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 MT-ND1 4535 genome.wustl.edu 36 MT 3746 3746 + Missense_Mutation SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d MT 3746 3746 G A SNP MT-ND1 ENST00000361390 human ensembl 54_36p +1 known missense c.439 p.A147T NULL HMMPfam_NADHdh HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_1,PatternScan_COMPLEX1_ND1_2 - no_errors MT-CYB 4519 genome.wustl.edu 36 MT 14961 14961 + Missense_Mutation SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d MT 14961 14961 G A SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.214 p.D72N NULL superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region KRTAP5-5 439915 genome.wustl.edu 36 11 1607987 1607987 + Missense_Mutation SNP G G T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 11 1607987 1607987 G T SNP KRTAP5-5 NM_001001480 human genbank 54_36p +1 validated missense c.341 p.G114V 0.325 NULL PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_2FE2S_FER_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7517830 7517830 + Missense_Mutation SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 17 7517830 7517830 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.833 p.P278L 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors LOC126075 126075 genome.wustl.edu 36 19 11323734 11323734 + Missense_Mutation SNP A A C novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 19 11323734 11323734 A C SNP LOC126075 NM_001080503 human genbank 54_36p +1 validated missense c.723 p.Q241H 0.002 NULL NULL - no_errors GAB4 128954 genome.wustl.edu 36 22 15830977 15830977 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 22 15830977 15830977 C T SNP GAB4 NM_001037814 human genbank 54_36p -1 provisional missense c.793 p.G265S 0.913 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors PTPN5 84867 genome.wustl.edu 36 11 18721479 18721479 + Missense_Mutation SNP G G C novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 11 18721479 18721479 G C SNP PTPN5 NM_006906 human genbank 54_36p -1 validated missense c.365 p.S122C 0.056 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors TFIP11 24144 genome.wustl.edu 36 22 25222055 25222055 + Silent SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 22 25222055 25222055 G A SNP TFIP11 NM_001008697 human genbank 54_36p -1 validated silent c.1833 p.N611 1.000 HMMPfam_TFP11 HMMSmart_SM00443,HMMPfam_G-patch,HMMPfam_TFP11 - no_errors NIPSNAP1 8508 genome.wustl.edu 36 22 28284897 28284897 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 22 28284897 28284897 C T SNP NIPSNAP1 NM_003634 human genbank 54_36p -1 reviewed nonsense c.752 p.W251* 1.000 HMMPfam_NIPSNAP HMMPfam_NIPSNAP - no_errors XDH 7498 genome.wustl.edu 36 2 31450252 31450252 + Missense_Mutation SNP C C A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 2 31450252 31450252 C A SNP XDH NM_000379 human genbank 54_36p -1 reviewed missense c.1677 p.Q559H 1.000 superfamily_Aldxan_dh_hamm superfamily_Ferredoxin,HMMPfam_Fer2,PatternScan_2FE2S_FER_1,HMMPfam_Fer2_2,superfamily_2Fe-2S_bind,superfamily_FAD-binding_2,HMMPfam_FAD_binding_5,superfamily_CO_deh_flav_C,HMMPfam_CO_deh_flav_C,superfamily_Aldxan_dh_hamm,HMMPfam_Ald_Xan_dh_C,superfamily_Ald_xan_DH_mo_bd,HMMPfam_Ald_Xan_dh_C2,PatternScan_MOLYBDOPTERIN_EUK - no_errors MOCOS 55034 genome.wustl.edu 36 18 32039062 32039062 + Missense_Mutation SNP A A G novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 18 32039062 32039062 A G SNP MOCOS NM_017947 human genbank 54_36p +1 validated missense c.1043 p.H348R 1.000 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_5,superfamily_PK beta-barrel domain-like,HMMPfam_MOSC_N,HMMPfam_MOSC - no_errors VCP 7415 genome.wustl.edu 36 9 35057954 35057954 + Missense_Mutation SNP T T A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 9 35057954 35057954 T A SNP VCP NM_007126 human genbank 54_36p -1 reviewed missense c.236 p.D79V 1.000 superfamily_ADC-like,HMMPfam_CDC48_N superfamily_ADC-like,HMMPfam_CDC48_N,superfamily_Cdc48 domain 2-like,HMMPfam_CDC48_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA - no_errors SPG11 80208 genome.wustl.edu 36 15 42738739 42738739 + Missense_Mutation SNP A A C novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 15 42738739 42738739 A C SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed missense c.497 p.L166R 0.895 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors LOC729102 729102 genome.wustl.edu 36 3 42906274 42906274 + RNA SNP G G T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 3 42906274 42906274 G T SNP LOC729102 XR_015895 human genbank 54_36p +1 model rna NULL NULL 0.117 - - - pseudogene LOC100130881 0 genome.wustl.edu 36 10 43311374 43311374 + RNA SNP G G C novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 10 43311374 43311374 G C SNP LOC100130881 XR_037727 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene ZFP36 7538 genome.wustl.edu 36 19 44590260 44590260 + Missense_Mutation SNP C C A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 19 44590260 44590260 C A SNP ZFP36 NM_003407 human genbank 54_36p +1 provisional missense c.62 p.S21Y 0.014 NULL superfamily_SSF90229,HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH - no_errors ZMIZ2 83637 genome.wustl.edu 36 7 44771492 44771492 + Silent SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 7 44771492 44771492 G A SNP ZMIZ2 NM_031449 human genbank 54_36p +1 validated silent c.2031 p.T677 0.485 NULL superfamily_RING/U-box,HMMPfam_zf-MIZ - no_errors C16orf87 388272 genome.wustl.edu 36 16 45415849 45415849 + Missense_Mutation SNP C C G novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 16 45415849 45415849 C G SNP C16orf87 NM_001001436 human genbank 54_36p -1 predicted missense c.113 p.S38T 1.000 HMMPfam_UPF0547 HMMPfam_UPF0547 - no_errors SULF2 55959 genome.wustl.edu 36 20 45752415 45752415 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 20 45752415 45752415 C T SNP SULF2 NM_018837 human genbank 54_36p -1 validated missense c.599 p.S200N 1.000 HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1 - no_errors HDC 3067 genome.wustl.edu 36 15 48327775 48327775 + Missense_Mutation SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 15 48327775 48327775 G A SNP HDC NM_002112 human genbank 54_36p -1 validated missense c.1099 p.R367W 1.000 superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Pyridoxal_deC superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC - no_errors P4HTM 54681 genome.wustl.edu 36 3 49017401 49017401 + Missense_Mutation SNP A A G novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 3 49017401 49017401 A G SNP P4HTM NM_177938 human genbank 54_36p +1 reviewed missense c.991 p.S331G 1.000 HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy superfamily_SSF47473,HMMSmart_P4Hc,PatternScan_EF_HAND_1,HMMPfam_2OG-FeII_Oxy - no_errors SPATA18 132671 genome.wustl.edu 36 4 52632931 52632931 + Missense_Mutation SNP G G C novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 4 52632931 52632931 G C SNP SPATA18 NM_145263 human genbank 54_36p +1 provisional missense c.610 p.E204Q 0.004 NULL NULL - no_errors ZNF609 23060 genome.wustl.edu 36 15 62579073 62579073 + Silent SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 15 62579073 62579073 G A SNP ZNF609 NM_015042 human genbank 54_36p +1 provisional silent c.402 p.L134 0.998 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NOL11 25926 genome.wustl.edu 36 17 63164548 63164548 + Missense_Mutation SNP G T T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 17 63164548 63164548 G T SNP NOL11 NM_015462 human genbank 54_36p +1 provisional missense c.1527 p.L509F 0.993 NULL HMMPfam_NUC205 - no_errors UACA 55075 genome.wustl.edu 36 15 68759060 68759060 + Missense_Mutation SNP T T C novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 15 68759060 68759060 T C SNP UACA NM_018003 human genbank 54_36p -1 validated missense c.832 p.T278A 0.012 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_Pox_A_type_inc - no_errors SLC7A3 84889 genome.wustl.edu 36 X 70064496 70064496 + Missense_Mutation SNP G G T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d X 70064496 70064496 G T SNP SLC7A3 NM_001048164 human genbank 54_36p -1 validated missense c.920 p.T307N 1.000 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors XIST 7503 genome.wustl.edu 36 X 72982071 72982071 + RNA SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d X 72982071 72982071 G A SNP XIST NR_001564 human genbank 54_36p -1 reviewed rna NULL NULL 0.000 - - - no_errors LOC441775 441775 genome.wustl.edu 36 16 74826755 74826755 + RNA SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 16 74826755 74826755 G A SNP LOC441775 XR_042366 human genbank 54_36p -1 model rna NULL NULL 0.992 - - - pseudogene HIP1 3092 genome.wustl.edu 36 7 75027068 75027068 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 7 75027068 75027068 C T SNP HIP1 NM_005338 human genbank 54_36p -1 reviewed missense c.1279 p.A427T 0.004 NULL HMMPfam_ANTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273,superfamily_ARM repeat,superfamily_I/LWEQ domain (Pfam 01608),HMMSmart_SM00307,HMMPfam_I_LWEQ - no_errors LOC440311 440311 genome.wustl.edu 36 15 93201127 93201127 + RNA SNP G A A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 15 93201127 93201127 G A SNP LOC440311 XR_016779 human genbank 54_36p +1 model rna NULL NULL 0.016 - - - pseudogene LOXL4 84171 genome.wustl.edu 36 10 100007737 100007737 + Silent SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 10 100007737 100007737 G A SNP LOXL4 NM_032211 human genbank 54_36p -1 reviewed silent c.1096 p.L366 0.977 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE - no_errors HSP90B1 7184 genome.wustl.edu 36 12 102859577 102859577 + Missense_Mutation SNP A A T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 12 102859577 102859577 A T SNP HSP90B1 NM_003299 human genbank 54_36p +1 provisional missense c.1271 p.D424V 1.000 HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold superfamily_ATP_bd_ATPase,PatternScan_HSP90,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF110942,PatternScan_ER_TARGET - no_errors IL1RAPL2 26280 genome.wustl.edu 36 X 104871332 104871332 + Missense_Mutation SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d X 104871332 104871332 G A SNP IL1RAPL2 NM_017416 human genbank 54_36p +1 reviewed missense c.1040 p.R347H 1.000 HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors IKBKAP 8518 genome.wustl.edu 36 9 110680782 110680782 + Silent SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 9 110680782 110680782 C T SNP IKBKAP NM_003640 human genbank 54_36p -1 reviewed silent c.3642 p.E1214 1.000 NULL HMMPfam_IKI3,superfamily_Amine_DH_B_like - no_errors ADAM12 8038 genome.wustl.edu 36 10 127728178 127728178 + Missense_Mutation SNP C C G novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 10 127728178 127728178 C G SNP ADAM12 NM_003474 human genbank 54_36p -1 reviewed missense c.1669 p.D557H 1.000 HMMSmart_SM00608,HMMPfam_ADAM_CR "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2" - no_errors OCRL 4952 genome.wustl.edu 36 X 128551916 128551916 + Silent SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d X 128551916 128551916 C T SNP OCRL NM_000276 human genbank 54_36p +1 reviewed silent c.2694 p.S898 0.625 NULL superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors SLC9A6 10479 genome.wustl.edu 36 X 134934213 134934213 + Silent SNP G G T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d X 134934213 134934213 G T SNP SLC9A6 NM_001042537 human genbank 54_36p +1 validated silent c.1521 p.R507 0.998 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors SLITRK4 139065 genome.wustl.edu 36 X 142545837 142545837 + Missense_Mutation SNP G G T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d X 142545837 142545837 G T SNP SLITRK4 NM_173078 human genbank 54_36p -1 validated missense c.754 p.L252I 1.000 superfamily_L domain-like,HMMSmart_SM00082 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRNT - no_errors TCERG1 10915 genome.wustl.edu 36 5 145829361 145829361 + Silent SNP A A G novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 5 145829361 145829361 A G SNP TCERG1 NM_006706 human genbank 54_36p +1 reviewed silent c.1260 p.A420 0.993 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF - no_errors LOC286456 286456 genome.wustl.edu 36 X 150145162 150145162 + RNA SNP C C A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d X 150145162 150145162 C A SNP LOC286456 XR_016302 human genbank 54_36p -1 model rna NULL NULL 0.953 - - - pseudogene BCAP31 10134 genome.wustl.edu 36 X 152634327 152634327 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d X 152634327 152634327 C T SNP BCAP31 NM_005745 human genbank 54_36p -1 reviewed missense c.205 p.E69K 0.998 HMMPfam_Bap31 HMMPfam_Bap31 - no_errors RNF32 140545 genome.wustl.edu 36 7 156140126 156140126 + Missense_Mutation SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 7 156140126 156140126 G A SNP RNF32 NM_030936 human genbank 54_36p +1 reviewed missense c.370 p.V124M 0.003 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_IQ - no_errors LMBR1 64327 genome.wustl.edu 36 7 156210910 156210910 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 7 156210910 156210910 C T SNP LMBR1 NM_022458 human genbank 54_36p -1 reviewed missense c.1138 p.D380N 1.000 HMMPfam_LMBR1 HMMPfam_LMBR1 - no_errors ABCC5 10057 genome.wustl.edu 36 3 185147976 185147976 + Missense_Mutation SNP C C G novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 3 185147976 185147976 C G SNP ABCC5 NM_005688 human genbank 54_36p -1 reviewed missense c.3244 p.D1082H 1.000 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane 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 NRP2 8828 genome.wustl.edu 36 2 206349489 206349489 + Missense_Mutation SNP C C G novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 2 206349489 206349489 C G SNP NRP2 NM_018534 human genbank 54_36p +1 reviewed missense c.2715 p.H905Q 0.942 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00137,HMMPfam_MAM - no_errors C2orf80 389073 genome.wustl.edu 36 2 208745037 208745037 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 2 208745037 208745037 C T SNP C2orf80 NM_001099334 human genbank 54_36p -1 validated missense c.374 p.R125Q 0.146 NULL NULL - no_errors KCNH1 3756 genome.wustl.edu 36 1 209037572 209037572 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 1 209037572 209037572 C T SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.1816 p.D606N 1.000 superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding superfamily_PYP-like sensor domain (PAS domain),HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding - no_errors CCDC108 255101 genome.wustl.edu 36 2 219604270 219604270 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 2 219604270 219604270 C T SNP CCDC108 NM_194302 human genbank 54_36p -1 provisional missense c.817 p.D273N 1.000 superfamily_PapD-like PatternScan_MGMT,superfamily_PapD-like - no_errors ITPKB 3707 genome.wustl.edu 36 1 224990523 224990523 + Silent SNP G G A novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 1 224990523 224990523 G A SNP ITPKB NM_002221 human genbank 54_36p -1 reviewed silent c.1260 p.S420 0.000 NULL HMMPfam_IPK,superfamily_SAICAR synthase-like - no_errors COL6A3 1293 genome.wustl.edu 36 2 237940650 237940650 + Missense_Mutation SNP A A G novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 2 237940650 237940650 A G SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.4919 p.I1640T 1.000 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors TRIM58 25893 genome.wustl.edu 36 1 246106083 246106083 + Missense_Mutation SNP C C T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 1 246106083 246106083 C T SNP TRIM58 NM_015431 human genbank 54_36p +1 validated missense c.1130 p.P377L 0.235 HMMPfam_SPRY,HMMSmart_SPRY superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors ENSG00000223073 0 genome.wustl.edu 36 MT 516 517 + RNA DEL CA CA - novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 CA CA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d MT 516 517 CA - DEL ENSG00000223073 ENST00000411141 human ensembl 54_36p +1 novel rna NULL NULL NULL - - (deletion:rna[155,931]) no_errors MT-CO2 0 genome.wustl.edu 36 MT 7671 7672 + Frame_Shift_Del DEL AT AT - novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 AT AT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d MT 7671 7672 AT - DEL MT-CO2 ENST00000361739 human ensembl 54_36p +1 known frame_shift_del c.85_86 p.M29fs NULL HMMPfam_COX2_TM,superfamily_Cytochrome c oxidase subunit II-like transmembrane region HMMPfam_COX2_TM,superfamily_Cytochrome c oxidase subunit II-like transmembrane region,superfamily_Cupredoxins,HMMPfam_COX2,PatternScan_COX2 (deletion:cds_exon[7587,8270]) no_errors CD109 135228 genome.wustl.edu 36 6 74464017 74464018 + Splice_Site INS - - T novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 6 74464017 74464018 - T INS CD109 NM_133493 human genbank 54_36p +1 validated splice_site_ins c.247+1_247+1 e2+1 1.000:0.996 - - - no_errors PSMD14 10213 genome.wustl.edu 36 2 161883607 161883618 + In_Frame_Del DEL GGAGGTATGCCT GGAGGTATGCCT - novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 GGAGGTATGCCT GGAGGTATGCCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 2 161883607 161883618 GGAGGTATGCCT - DEL PSMD14 NM_005805 human genbank 54_36p +1 validated in_frame_del c.25_36 p.GMPG10in_frame_del 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000 NULL HMMPfam_Mov34,superfamily_JAB1/MPN domain,HMMSmart_SM00232 (deletion:cds_exon[161883583,161883630]) no_errors OR2G6 391211 genome.wustl.edu 36 1 246751725 246751738 + Frame_Shift_Del DEL ACTCCAGACTCCAC ACTCCAGACTCCAC - novel unknown TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 ACTCCAGACTCCAC ACTCCAGACTCCAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 083e3d14-3756-4101-a93d-bc76f2c0d59c e4318781-2a5f-412b-aaa5-74827d79a63d 1 246751725 246751738 ACTCCAGACTCCAC - DEL OR2G6 NM_001013355 human genbank 54_36p +1 validated frame_shift_del c.155_168 p.R54fs 0.024:0.002:0.002:0.004:0.001:0.001:0.003:0.079:0.991:0.997:0.994:0.994:0.984:0.717 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 (deletion:cds_exon[246751571,246752521]) no_errors