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 ABCC10 89845 broad.mit.edu 36 6 43514388 43514388 + Silent SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 6 43514388 43514388 G A SNP ABCC10 NM_033450 human genbank 54_36p 1 reviewed silent c.1920 p.L640 1 HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540 - no_errors ABCC5 10057 broad.mit.edu 36 3 185121873 185121873 + Missense_Mutation SNP A A T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 3 185121873 185121873 A T SNP ABCC5 NM_005688 human genbank 54_36p -1 reviewed missense c.4223 p.F1408Y 1 superfamily_P-loop containing nucleoside triphosphate hydrolases 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 ADCY2 108 broad.mit.edu 36 5 7879918 7879918 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 5 7879918 7879918 C T SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed silent c.3210 p.D1070 1 HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1 - no_errors ALDH1L1 10840 broad.mit.edu 36 3 127355060 127355060 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 3 127355060 127355060 C G SNP ALDH1L1 NM_012190 human genbank 54_36p -1 reviewed missense c.775 p.D259H 0.96 HMMPfam_Formyl_trans_C,superfamily_FMT_C_like PatternScan_GART,HMMPfam_Formyl_trans_N,superfamily_formyl_transf,HMMPfam_Formyl_trans_C,PatternScan_PHOSPHOPANTETHEINE,superfamily_ACP_like,superfamily_FMT_C_like,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_CYS,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_Aldehyde_DH/Histidinol_DH - no_errors BAI1 575 broad.mit.edu 36 8 143566730 143566730 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 8 143566730 143566730 T C SNP BAI1 NM_001702 human genbank 54_36p 1 reviewed missense c.2312 p.L771P 1 NULL superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors C18orf34 374864 broad.mit.edu 36 18 29182907 29182907 + Missense_Mutation SNP T T G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 18 29182907 29182907 T G SNP C18orf34 NM_001105528 human genbank 54_36p -1 validated missense c.402 p.K134N 0 NULL NULL - no_errors C18orf45 85019 broad.mit.edu 36 18 19132002 19132002 + Silent SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 18 19132002 19132002 G T SNP C18orf45 NM_032933 human genbank 54_36p -1 validated silent c.858 p.A286 1 superfamily_Multidrug resistance efflux transporter EmrE superfamily_Multidrug resistance efflux transporter EmrE - no_errors C2orf66 401027 broad.mit.edu 36 2 197380523 197380523 + Silent SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 2 197380523 197380523 G A SNP C2orf66 NM_213608 human genbank 54_36p -1 predicted silent c.243 p.F81 0.96 NULL NULL - no_errors C4orf21 55345 broad.mit.edu 36 4 113758564 113758564 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 4 113758564 113758564 G C SNP C4orf21 NM_018392 human genbank 54_36p -1 predicted missense c.2083 p.Q695E 0 NULL HMMPfam_DUF2439 - no_errors CA4 762 broad.mit.edu 36 17 55591421 55591421 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 17 55591421 55591421 A G SNP CA4 NM_000717 human genbank 54_36p 1 reviewed missense c.793 p.S265G 0.01 superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1 - no_errors CCDC158 339965 broad.mit.edu 36 4 77497599 77497599 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 4 77497599 77497599 C G SNP FLJ25770 NM_001042784 human genbank 54_36p -1 validated missense c.2125 p.E709Q 0.96 NULL NULL - no_errors CGRRF1 10668 broad.mit.edu 36 14 54074630 54074630 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 14 54074630 54074630 T C SNP CGRRF1 NM_006568 human genbank 54_36p 1 validated missense c.778 p.S260P 0.03 superfamily_SSF57850 HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_SSF57850 - no_errors CLPB 81570 broad.mit.edu 36 11 71823138 71823138 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 11 71823138 71823138 T C SNP CLPB NM_030813 human genbank 54_36p -1 provisional missense c.29 p.K10R 0.91 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_2,HMMPfam_ClpB_D2-small - no_errors CTBS 1486 broad.mit.edu 36 1 84808932 84808932 + Silent SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 1 84808932 84808932 T C SNP CTBS NM_004388 human genbank 54_36p -1 validated silent c.237 p.T79 1 superfamily_(Trans)glycosidases,HMMSmart_SM00636 superfamily_(Trans)glycosidases,HMMSmart_SM00636,HMMPfam_Glyco_hydro_18,PatternScan_CHITINASE_18 - no_errors CTNNA1 1495 broad.mit.edu 36 5 138145513 138145513 + Missense_Mutation SNP A A C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 5 138145513 138145513 A C SNP CTNNA1 NM_001903 human genbank 54_36p 1 validated missense c.1 p.M1L 1 NULL HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin,PatternScan_VINCULIN_1 - no_errors CTNND2 1501 broad.mit.edu 36 5 11289923 11289923 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 5 11289923 11289923 C G SNP CTNND2 NM_001332 human genbank 54_36p -1 validated missense c.1641 p.W547C 1 superfamily_ARM repeat,HMMPfam_Arm superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 - no_errors DGKI 9162 broad.mit.edu 36 7 136922464 136922464 + Silent SNP C C A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 7 136922464 136922464 C A SNP DGKI NM_004717 human genbank 54_36p -1 reviewed silent c.1344 p.L448 1 HMMPfam_DAGK_cat,HMMSmart_DAGKc PatternScan_ZF_DAG_PE_1,HMMSmart_C1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_DAGKc,HMMPfam_DAGK_acc,HMMSmart_DAGKa,superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK - no_errors ELN 2006 broad.mit.edu 36 7 73093497 73093497 + Missense_Mutation SNP C C A rs41350445 Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 7 73093497 73093497 C A SNP ELN NM_000501 human genbank 54_36p 1 reviewed missense c.212 p.A71E 0 NULL PatternScan_ENDONUCLEASE_III_2,PatternScan_HEXAPEP_TRANSFERASES - no_errors EPDR1 54749 broad.mit.edu 36 7 37926943 37926943 + Silent SNP A A C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 7 37926943 37926943 A C SNP EPDR1 NM_017549 human genbank 54_36p 1 reviewed silent c.237 p.A79 0 NULL HMMPfam_Ependymin,PatternScan_EPENDYMIN_1,PatternScan_EPENDYMIN_2 - no_errors ETV4 2118 broad.mit.edu 36 17 38962065 38962065 + Silent SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 17 38962065 38962065 C G SNP ETV4 NM_001079675 human genbank 54_36p -1 validated silent c.1194 p.S398 0.76 superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_2 HMMPfam_ETS_PEA3_N,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2 - no_errors FBN2 2201 broad.mit.edu 36 5 127738326 127738326 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 5 127738326 127738326 C T SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed silent c.1989 p.Q663 1 HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors FGFR3 2261 broad.mit.edu 36 4 1777374 1777374 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 4 1777374 1777374 G T SNP FGFR3 NM_000142 human genbank 54_36p 1 reviewed missense c.1745 p.C582F 1 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors GSPT1 2935 broad.mit.edu 36 16 11888276 11888276 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 16 11888276 11888276 C T SNP GSPT1 NM_002094 human genbank 54_36p -1 validated missense c.557 p.R186K 1 superfamily_SSF52540,HMMPfam_GTP_EFTU superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C - no_errors HIST1H2BJ 8970 broad.mit.edu 36 6 27208431 27208431 + Silent SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 6 27208431 27208431 G A SNP HIST1H2BJ NM_021058 human genbank 54_36p -1 reviewed silent c.78 p.D26 1 superfamily_Histone-fold superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors LILRA5 353514 broad.mit.edu 36 19 59514739 59514739 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 19 59514739 59514739 T C SNP LILRA5 NM_021250 human genbank 54_36p -1 reviewed missense c.469 p.N157D 0.05 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors MAP4K3 8491 broad.mit.edu 36 2 39517539 39517539 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 2 39517539 39517539 T C SNP MAP4K3 NM_003618 human genbank 54_36p -1 reviewed missense c.94 p.K32E 1 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase HMMPfam_CNH,HMMSmart_SM00036,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors MED11 400569 broad.mit.edu 36 17 4581930 4581930 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 17 4581930 4581930 C A SNP MED11 NM_001001683 human genbank 54_36p 1 provisional missense c.196 p.Q66K 1 HMMPfam_Med11 HMMPfam_Med11 - no_errors MYH7B 57644 broad.mit.edu 36 20 33050327 33050327 + Missense_Mutation SNP A A C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 20 33050327 33050327 A C SNP MYH7B NM_020884 human genbank 54_36p 1 validated missense c.4264 p.S1422R 1 HMMPfam_Myosin_tail_1 PatternScan_THIOL_PROTEASE_HIS,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors MYO16 23026 broad.mit.edu 36 13 108270690 108270691 + Missense_Mutation DNP AT AT TA novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 AT AT Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 13 108270690 108270691 AT TA DNP MYO16 NM_015011 human genbank 54_36p 1 validated missense c.806_807 p.N269I 0.740:0.891 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ - no_errors NDN 4692 broad.mit.edu 36 15 21483337 21483337 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 15 21483337 21483337 G A SNP NDN NM_002487 human genbank 54_36p -1 reviewed missense c.121 p.P41S 0.02 NULL HMMPfam_MAGE - no_errors NLRP12 91662 broad.mit.edu 36 19 59004776 59004776 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 19 59004776 59004776 G C SNP NLRP12 NM_144687 human genbank 54_36p -1 reviewed missense c.1949 p.S650C 0.01 superfamily_RNI-like HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like - no_errors NPC1L1 29881 broad.mit.edu 36 7 44519640 44519640 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 7 44519640 44519640 G C SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated missense c.4011 p.S1337R 0.2 NULL HMMPfam_Patched,superfamily_SSF82866 - no_errors NPHP3 27031 broad.mit.edu 36 3 133903036 133903036 + Missense_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 3 133903036 133903036 G C SNP NPHP3 NM_153240 human genbank 54_36p -1 reviewed missense c.1556 p.A519G 1 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1 - no_errors PRC1 9055 broad.mit.edu 36 15 89325231 89325231 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 15 89325231 89325231 C G SNP PRC1 NM_003981 human genbank 54_36p -1 reviewed missense c.709 p.E237Q 1 HMMPfam_MAP65_ASE1 HMMPfam_MAP65_ASE1 - no_errors PROKR2 128674 broad.mit.edu 36 20 5230783 5230783 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 20 5230783 5230783 C T SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed missense c.1058 p.R353H 0.98 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PUS1 80324 broad.mit.edu 36 12 130980501 130980501 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 12 130980501 130980501 C T SNP PUS1 NM_025215 human genbank 54_36p 1 validated silent c.171 p.R57 0.03 NULL superfamily_Pseudouridine synthase,HMMPfam_PseudoU_synth_1 - no_errors RSPH6A 81492 broad.mit.edu 36 19 51009836 51009837 + Missense_Mutation DNP CC CC AA novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 CC CC Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 19 51009836 51009837 CC AA DNP RSHL1 NM_030785 human genbank 54_36p -1 reviewed missense c.439_438 p.LG146FC 0.001:0.000 NULL HMMPfam_Radial_spoke - no_errors SCN3A 6328 broad.mit.edu 36 2 165711590 165711590 + Missense_Mutation SNP A A G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 A A Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 2 165711590 165711590 A G SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed missense c.1576 p.S526P 1 NULL HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324 - no_errors SHKBP1 92799 broad.mit.edu 36 19 45786835 45786835 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 19 45786835 45786835 C T SNP SHKBP1 NM_138392 human genbank 54_36p 1 validated silent c.1500 p.Y500 1 NULL superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1 - no_errors SLC4A11 83959 broad.mit.edu 36 20 3158863 3158863 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 20 3158863 3158863 C G SNP SLC4A11 NM_032034 human genbank 54_36p -1 validated missense c.1507 p.V503L 1 HMMPfam_HCO3_cotransp superfamily_Phoshotransferase/anion transport protein,HMMPfam_HCO3_cotransp - no_errors SNED1 25992 broad.mit.edu 36 2 241670404 241670404 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 2 241670404 241670404 C T SNP SNED1 NM_001080437 human genbank 54_36p 1 provisional missense c.4073 p.S1358F 0.99 superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMSmart_SM00179,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors SPTBN2 6712 broad.mit.edu 36 11 66223550 66223550 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 11 66223550 66223550 G A SNP SPTBN2 NM_006946 human genbank 54_36p -1 validated missense c.3679 p.R1227W 1 HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors SYNM 23336 broad.mit.edu 36 15 97490428 97490428 + Missense_Mutation SNP C C G novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 15 97490428 97490428 C G SNP SYNM ENST00000336292 human ensembl 54_36p 1 known missense c.4337 p.T1446R 0 NULL HMMPfam_Filament,PatternScan_IF - no_errors TMC8 147138 broad.mit.edu 36 17 73646067 73646067 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 17 73646067 73646067 C T SNP TMC8 NM_152468 human genbank 54_36p 1 reviewed missense c.1576 p.R526C 1 HMMPfam_TMC HMMPfam_TMC - no_errors TP53 7157 broad.mit.edu 36 17 7518293 7518293 + Missense_Mutation SNP C C A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C C A C C Unknown Valid Somatic Phase_I Capture Sanger_PCR_WGA Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 17 7518293 7518293 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.713 p.C238F 1 PatternScan_P53,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 TRPM2 7226 broad.mit.edu 36 21 44635613 44635613 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 21 44635613 44635613 G T SNP TRPM2 NM_003307 human genbank 54_36p 1 reviewed missense c.1471 p.A491S 1 NULL PatternScan_CHITINASE_18,HMMPfam_Ion_trans,superfamily_Nudix - no_errors TRPS1 7227 broad.mit.edu 36 8 116701055 116701055 + Missense_Mutation SNP G G A novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 8 116701055 116701055 G A SNP TRPS1 NM_014112 human genbank 54_36p -1 reviewed missense c.445 p.P149S 1 NULL HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57716 - no_errors TRPV3 162514 broad.mit.edu 36 17 3404841 3404841 + Silent SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 17 3404841 3404841 G C SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed silent c.54 p.A18 0 NULL HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans - no_errors TTL 150465 broad.mit.edu 36 2 112968226 112968226 + Missense_Mutation SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 2 112968226 112968226 G T SNP TTL NM_153712 human genbank 54_36p 1 validated missense c.272 p.C91F 1 HMMPfam_TTL HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like - no_errors USP51 158880 broad.mit.edu 36 X 55531044 55531044 + Missense_Mutation SNP T T C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 T T Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 X 55531044 55531044 T C SNP USP51 NM_201286 human genbank 54_36p -1 validated missense c.1054 p.R352G 1 NULL HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors UTP14A 10813 broad.mit.edu 36 X 128891264 128891264 + Nonstop_Mutation SNP G G C novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 X 128891264 128891264 G C SNP UTP14A NM_006649 human genbank 54_36p 1 provisional nonstop c.2315 p.*772S 0.02 NULL HMMPfam_Utp14 - no_errors VPS13C 54832 broad.mit.edu 36 15 59988545 59988545 + Silent SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 15 59988545 59988545 C T SNP VPS13C NM_020821 human genbank 54_36p -1 validated silent c.8916 p.E2972 1 HMMPfam_DUF1162 HMMPfam_DUF1162 - no_errors ZNF821 55565 broad.mit.edu 36 16 70451902 70451902 + Silent SNP G G T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 G G Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 16 70451902 70451902 G T SNP ZNF821 NM_017530 human genbank 54_36p -1 provisional silent c.633 p.P211 0.84 NULL PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2 - no_errors ZNF91 7644 broad.mit.edu 36 19 23336986 23336986 + Missense_Mutation SNP C C T novel Unknown TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 C C Unknown Unknown Somatic Phase_I Capture --- Illumina GAIIx a2f4e75d-b9ce-4d18-bd89-e8e19099c770 f10444ec-4962-4bf5-ae15-5a6641b9ec64 19 23336986 23336986 C T SNP ZNF91 NM_003430 human genbank 54_36p -1 validated missense c.635 p.C212Y 0.61 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,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 - no_errors