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-CO3 4514 genome.wustl.edu 36 MT 8431 8431 + Missense_Mutation SNP T T C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 MT 8431 8431 T C SNP MT-CO3 ENST00000361851 human ensembl 54_36p +1 known missense c.65 p.L22P NULL HMMPfam_ATP-synt_8 HMMPfam_ATP-synt_8 - no_errors MT-ND4 4538 genome.wustl.edu 36 MT 11049 11049 + Missense_Mutation SNP T T C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 MT 11049 11049 T C SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.289 p.S97P NULL HMMPfam_Oxidored_q5_N HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region B4GALNT3 283358 genome.wustl.edu 36 12 533170 533170 + Missense_Mutation SNP A A T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 12 533170 533170 A T SNP B4GALNT3 NM_173593 human genbank 54_36p +1 validated missense c.1820 p.E607V 0.118 NULL HMMSmart_SM00758,HMMPfam_PA14,superfamily_Nucleotide-diphospho-sugar transferases - no_errors TP53 7157 genome.wustl.edu 36 17 7518276 7518276 + Missense_Mutation SNP C T T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 17 7518276 7518276 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.730 p.G244S 1.000 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors NUP210 23225 genome.wustl.edu 36 3 13382548 13382548 + Silent SNP T T G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 3 13382548 13382548 T G SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed silent c.1830 p.V610 0.850 NULL superfamily_Invasin/intimin cell-adhesion fragments,HMMPfam_Big_2,HMMSmart_SM00635 - no_errors TRIO 7204 genome.wustl.edu 36 5 14422481 14422481 + Splice_Site SNP A A T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 5 14422481 14422481 A T SNP TRIO NM_007118 human genbank 54_36p +1 validated splice_site c.3067-2 e18-2 1.000 - - - no_errors LOC645864 645864 genome.wustl.edu 36 X 16099229 16099229 + Missense_Mutation SNP G G A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 X 16099229 16099229 G A SNP LOC645864 XM_001130425 human genbank 54_36p +1 model missense c.1166 p.R389H 0.039 HMMPfam_MAGE HMMPfam_MAGE - no_errors SPEN 23013 genome.wustl.edu 36 1 16135070 16135070 + Missense_Mutation SNP G G T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 16135070 16135070 G T SNP SPEN NM_015001 human genbank 54_36p +1 reviewed missense c.9748 p.V3250F 0.050 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC - no_errors PLCL2 23228 genome.wustl.edu 36 3 17027699 17027699 + Silent SNP T T G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 3 17027699 17027699 T G SNP PLCL2 NM_015184 human genbank 54_36p +1 validated silent c.1479 p.S493 0.105 superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors ZNF645 158506 genome.wustl.edu 36 X 22201235 22201235 + Missense_Mutation SNP G G C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 X 22201235 22201235 G C SNP ZNF645 NM_152577 human genbank 54_36p +1 provisional missense c.206 p.R69P 0.998 superfamily_SSF57850,HMMSmart_RING PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_ZnF_C2H2 - no_errors KIAA0528 9847 genome.wustl.edu 36 12 22526933 22526933 + Nonsense_Mutation SNP A A C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 12 22526933 22526933 A C SNP KIAA0528 NM_014802 human genbank 54_36p -1 predicted nonsense c.1562 p.L521* 0.988 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors CST9L 128821 genome.wustl.edu 36 20 23496889 23496889 + Missense_Mutation SNP C C A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 20 23496889 23496889 C A SNP CST9L NM_080610 human genbank 54_36p -1 reviewed missense c.199 p.A67S 0.243 superfamily_Cystatin/monellin,HMMPfam_Cystatin superfamily_Cystatin/monellin,HMMPfam_Cystatin - no_errors NCOA1 8648 genome.wustl.edu 36 2 24787366 24787366 + Silent SNP G G A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 2 24787366 24787366 G A SNP NCOA1 NM_003743 human genbank 54_36p +1 reviewed silent c.2481 p.L827 1.000 NULL superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_SRC-1,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518 - no_errors NEK10 152110 genome.wustl.edu 36 3 27308078 27308078 + Silent SNP A A G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 3 27308078 27308078 A G SNP NEK10 ENST00000341435 human ensembl 54_36p -1 known silent c.1377 p.L459 1.000 superfamily_ARM repeat superfamily_ARM repeat,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors KRTCAP3 200634 genome.wustl.edu 36 2 27519255 27519255 + Missense_Mutation SNP C C G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 2 27519255 27519255 C G SNP KRTCAP3 NM_173853 human genbank 54_36p +1 provisional missense c.256 p.L86V 0.999 NULL NULL - no_errors CHRM5 1133 genome.wustl.edu 36 15 32142360 32142360 + Missense_Mutation SNP G G C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 15 32142360 32142360 G C SNP CHRM5 NM_012125 human genbank 54_36p +1 validated missense c.150 p.L50F 0.990 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors C11orf74 119710 genome.wustl.edu 36 11 36588277 36588277 + Missense_Mutation SNP A A C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 11 36588277 36588277 A C SNP C11orf74 NM_138787 human genbank 54_36p +1 predicted missense c.48 p.L16F 0.717 NULL NULL - no_errors ANK1 286 genome.wustl.edu 36 8 41666936 41666936 + Missense_Mutation SNP C C T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 8 41666936 41666936 C T SNP ANK1 NM_020476 human genbank 54_36p -1 reviewed missense c.4070 p.C1357Y 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death - no_errors MRPL10 124995 genome.wustl.edu 36 17 43260921 43260921 + Missense_Mutation SNP G G C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 17 43260921 43260921 G C SNP MRPL10 NM_145255 human genbank 54_36p -1 reviewed missense c.167 p.P56R 1.000 NULL NULL - no_errors CD40 958 genome.wustl.edu 36 20 44190381 44190381 + Missense_Mutation SNP G T T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 20 44190381 44190381 G T SNP CD40 NM_001250 human genbank 54_36p +1 reviewed missense c.652 p.V218L 0.001 NULL superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,PatternScan_EGF_2 - no_errors TIMM50 92609 genome.wustl.edu 36 19 44663330 44663330 + Silent SNP C C G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 19 44663330 44663330 C G SNP TIMM50 NM_001001563 human genbank 54_36p +1 validated silent c.306 p.R102 0.995 NULL superfamily_SSF56784,HMMPfam_NIF,HMMSmart_CPDc - no_errors ADCK4 79934 genome.wustl.edu 36 19 45903145 45903145 + Missense_Mutation SNP C C T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 19 45903145 45903145 C T SNP ADCK4 NM_024876 human genbank 54_36p -1 validated missense c.415 p.A139T 0.996 NULL superfamily_Protein kinase-like (PK-like),HMMPfam_ABC1 - no_errors THSD1P 374500 genome.wustl.edu 36 13 51658918 51658918 + RNA SNP G A A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 13 51658918 51658918 G A SNP THSD1P NR_002816 human genbank 54_36p -1 provisional rna NULL NULL 0.252 - - - pseudogene PODN 127435 genome.wustl.edu 36 1 53312905 53312905 + Missense_Mutation SNP A A G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 53312905 53312905 A G SNP PODN NM_153703 human genbank 54_36p +1 validated missense c.590 p.N197S 1.000 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047 - no_errors GYS1 2997 genome.wustl.edu 36 19 54188116 54188116 + Silent SNP G G A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 19 54188116 54188116 G A SNP GYS1 NM_002103 human genbank 54_36p -1 provisional silent c.66 p.F22 1.000 NULL HMMPfam_Glycogen_syn,superfamily_SSF53756 - no_errors MYH14 79784 genome.wustl.edu 36 19 55504858 55504858 + Nonstop_Mutation SNP G G C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 19 55504858 55504858 G C SNP MYH14 NM_001077186 human genbank 54_36p +1 reviewed nonstop c.6011 p.*2004S 0.212 NULL HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_Myosin_tail_1,superfamily_Prefoldin - no_errors SBK2 0 genome.wustl.edu 36 19 60739221 60739221 + Missense_Mutation SNP C C A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 19 60739221 60739221 C A SNP SBK2 NM_001101401 human genbank 54_36p -1 provisional missense c.253 p.G85C 1.000 superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ZNF417 147687 genome.wustl.edu 36 19 63112305 63112305 + Missense_Mutation SNP A A G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 19 63112305 63112305 A G SNP ZNF417 NM_152475 human genbank 54_36p -1 validated missense c.1153 p.C385R 0.983 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,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors TLE3 7090 genome.wustl.edu 36 15 68137570 68137570 + Missense_Mutation SNP G G A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 15 68137570 68137570 G A SNP TLE3 NM_005078 human genbank 54_36p -1 validated missense c.1033 p.P345S 0.836 NULL HMMPfam_TLE_N,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors SDK2 54549 genome.wustl.edu 36 17 68872999 68872999 + Silent SNP G G A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 17 68872999 68872999 G A SNP SDK2 ENST00000334543 human ensembl 54_36p -1 known silent c.4335 p.P1445 0.097 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors HCN4 10021 genome.wustl.edu 36 15 71409021 71409021 + Silent SNP G G A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 15 71409021 71409021 G A SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed silent c.1536 p.H512 0.998 superfamily_SSF81324,HMMPfam_Ion_trans PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1 - no_errors RNF157 114804 genome.wustl.edu 36 17 71670239 71670239 + Missense_Mutation SNP G C C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 17 71670239 71670239 G C SNP RNF157 NM_052916 human genbank 54_36p -1 validated missense c.781 p.Q261E 1.000 superfamily_RING/U-box superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors DMRTC1 63947 genome.wustl.edu 36 X 72011415 72011415 + Missense_Mutation SNP C C A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 X 72011415 72011415 C A SNP DMRTC1 NM_033053 human genbank 54_36p -1 validated missense c.226 p.D76Y 0.000 NULL NULL - no_errors TNPO1 3842 genome.wustl.edu 36 5 72221491 72221491 + Missense_Mutation SNP A T T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 5 72221491 72221491 A T SNP TNPO1 NM_002270 human genbank 54_36p +1 reviewed missense c.1652 p.D551V 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_HEAT - no_errors NAV3 89795 genome.wustl.edu 36 12 76925083 76925083 + Missense_Mutation SNP G A A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 12 76925083 76925083 G A SNP NAV3 NM_014903 human genbank 54_36p +1 validated missense c.1634 p.S545N 0.002 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382 - no_errors DOPEY1 23033 genome.wustl.edu 36 6 83902211 83902211 + Missense_Mutation SNP G A A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 6 83902211 83902211 G A SNP DOPEY1 NM_015018 human genbank 54_36p +1 validated missense c.3025 p.V1009I 1.000 NULL HMMPfam_Dopey_N - no_errors DDAH1 23576 genome.wustl.edu 36 1 85559754 85559754 + Missense_Mutation SNP G G A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 85559754 85559754 G A SNP DDAH1 NM_012137 human genbank 54_36p -1 reviewed missense c.827 p.S276L 0.996 HMMPfam_Amidinotransf,superfamily_Pentein HMMPfam_Amidinotransf,superfamily_Pentein - no_errors TLL2 7093 genome.wustl.edu 36 10 98123507 98123507 + Missense_Mutation SNP T G G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 10 98123507 98123507 T G SNP TLL2 NM_012465 human genbank 54_36p -1 reviewed missense c.2498 p.H833P 1.000 superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB PatternScan_EGF_1,superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Astacin,PatternScan_ZINC_PROTEASE,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,PatternScan_EGF_CA,HMMSmart_EGF_CA,HMMPfam_EGF_CA,superfamily_SSF57196,PatternScan_EGF_2,HMMPfam_EGF - no_errors FBXO24 26261 genome.wustl.edu 36 7 100035708 100035708 + Missense_Mutation SNP G G C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 7 100035708 100035708 G C SNP FBXO24 NM_033506 human genbank 54_36p +1 reviewed missense c.1325 p.R442P 0.999 superfamily_RCC1/BLIP-II superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_RCC1/BLIP-II - no_errors MUC17 140453 genome.wustl.edu 36 7 100466705 100466705 + Missense_Mutation SNP G G T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 7 100466705 100466705 G T SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional missense c.5288 p.S1763I 0.002 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors ZFPM2 23414 genome.wustl.edu 36 8 106883812 106883812 + Missense_Mutation SNP C C A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 8 106883812 106883812 C A SNP ZFPM2 NM_012082 human genbank 54_36p +1 reviewed missense c.2326 p.P776T 0.281 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors KDELC2 143888 genome.wustl.edu 36 11 107850790 107850790 + Missense_Mutation SNP T T G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 11 107850790 107850790 T G SNP KDELC2 NM_153705 human genbank 54_36p -1 validated missense c.1498 p.K500Q 0.673 NULL HMMPfam_Filamin,superfamily_E set domains,HMMSmart_SM00557,HMMSmart_SM00672 - no_errors LRCH2 57631 genome.wustl.edu 36 X 114320273 114320273 + Silent SNP G A A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 X 114320273 114320273 G A SNP LRCH2 NM_020871 human genbank 54_36p -1 validated silent c.837 p.N279 1.000 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH - no_errors NRAS 4893 genome.wustl.edu 36 1 115060209 115060209 + Nonsense_Mutation SNP A A C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 115060209 115060209 A C SNP NRAS NM_002524 human genbank 54_36p -1 reviewed nonsense c.96 p.Y32* 1.000 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174 - no_errors SLC37A4 2542 genome.wustl.edu 36 11 118401989 118401989 + Missense_Mutation SNP G G T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 11 118401989 118401989 G T SNP SLC37A4 NM_001467 human genbank 54_36p -1 validated missense c.883 p.Q295K 0.012 NULL superfamily_MFS general substrate transporter,HMMPfam_MFS_1,PatternScan_GLPT - pseudogene:no_stop_codon:bad_bp_length_for_coding_region GLT1D1 144423 genome.wustl.edu 36 12 128033494 128033494 + Missense_Mutation SNP G A A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 12 128033494 128033494 G A SNP GLT1D1 NM_144669 human genbank 54_36p +1 provisional missense c.707 p.G236E 0.014 superfamily_SSF53756,HMMPfam_Glycos_transf_1 superfamily_SSF53756,HMMPfam_Glycos_transf_1 - no_errors PCDHGA4 56111 genome.wustl.edu 36 5 140716806 140716806 + Missense_Mutation SNP G G A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 5 140716806 140716806 G A SNP PCDHGA4 NM_018917 human genbank 54_36p +1 reviewed missense c.1855 p.V619M 0.310 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors LRP1B 53353 genome.wustl.edu 36 2 141703287 141703287 + Missense_Mutation SNP A A C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 2 141703287 141703287 A C SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.785 p.I262S 0.935 superfamily_SSF63825,HMMSmart_LY superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,HMMPfam_EGF,HMMPfam_NHL,HMMPfam_EGF_2,PatternScan_EGF_1 - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144278128 144278128 + Missense_Mutation SNP T T C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 144278128 144278128 T C SNP ANKRD35 NM_144698 human genbank 54_36p +1 validated missense c.2873 p.L958P 1.000 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors FLG2 388698 genome.wustl.edu 36 1 150592414 150592414 + Missense_Mutation SNP G G C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 150592414 150592414 G C SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.4472 p.S1491C 0.002 NULL superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin - no_errors AKAP12 9590 genome.wustl.edu 36 6 151714300 151714300 + Silent SNP T T G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 6 151714300 151714300 T G SNP AKAP12 NM_005100 human genbank 54_36p +1 reviewed silent c.3081 p.G1027 0.000 NULL HMMPfam_WSK,HMMPfam_RII_binding_1 - no_errors DOCK2 1794 genome.wustl.edu 36 5 169048875 169048875 + Missense_Mutation SNP A A G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 5 169048875 169048875 A G SNP DOCK2 NM_004946 human genbank 54_36p +1 validated missense c.803 p.K268R 1.000 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Cytochrome c - no_errors CACNA1E 777 genome.wustl.edu 36 1 179719649 179719649 + Missense_Mutation SNP C C G novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 179719649 179719649 C G SNP CACNA1E NM_000721 human genbank 54_36p +1 reviewed missense c.146 p.T49S 1.000 superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors FAT1 2195 genome.wustl.edu 36 4 187866974 187866974 + Silent SNP G G C novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 4 187866974 187866974 G C SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed silent c.1002 p.L334 1.000 superfamily_Cadherin-like,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CADHERIN_1,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL - no_errors LGR6 59352 genome.wustl.edu 36 1 200554502 200554502 + Silent SNP G G T novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 200554502 200554502 G T SNP LGR6 NM_001017403 human genbank 54_36p +1 reviewed silent c.2448 p.L816 0.998 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_RNI-like,HMMSmart_SM00369,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors MIA3 375056 genome.wustl.edu 36 1 220868695 220868695 + Missense_Mutation SNP C C A novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 1 220868695 220868695 C A SNP MIA3 NM_198551 human genbank 54_36p +1 validated missense c.1510 p.L504I 0.000 NULL superfamily_SH3-domain,HMMPfam_SH3_2 - no_errors DNAH11 8701 genome.wustl.edu 36 7 21693507 21693525 + Splice_Site DEL CCTCACTTTATCATTTAGT CCTCACTTTATCATTTAGT - novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 CCTCACTTTATCATTTAGT CCTCACTTTATCATTTAGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 7 21693507 21693525 CCTCACTTTATCATTTAGT - DEL DNAH11 ENST00000328843 human ensembl 54_36p +1 known splice_site_del c.5800-18_5800-1 e35-1 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.000:0.001:0.349:0.419:0.419:1.000:1.000:1.000 - - (deletion:intron[21693399,21693524], cds_exon[21693525,21693670]) no_errors RPLP0-like 220717 genome.wustl.edu 36 2 38563545 38563547 + RNA DEL AAT AAT - novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 AAT AAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 2 38563545 38563547 AAT - DEL RPLP0-like XR_017813 human genbank 54_36p +1 model rna NULL NULL 0.003:0.003:0.002 - - (deletion:rna[38562421,38563591]) pseudogene SLC11A2 4891 genome.wustl.edu 36 12 49688546 49688559 + Frame_Shift_Del DEL TCTTCTCATTAAAG TCTTCTCATTAAAG - novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 TCTTCTCATTAAAG TCTTCTCATTAAAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 12 49688546 49688559 TCTTCTCATTAAAG - DEL SLC11A2 NM_000617 human genbank 54_36p -1 validated frame_shift_del c.163_150 p.F51fs 0.981:0.985:0.996:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000 NULL HMMPfam_Nramp (deletion:cds_exon[49688526,49688674]) no_errors REXO1L7P 441363 genome.wustl.edu 36 8 86909940 86909940 + RNA DEL C C - novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 8 86909940 86909940 C - DEL REXO1L7P XR_041982 human genbank 54_36p -1 model rna NULL NULL 0.001 - - (deletion:rna[86908388,86910219]) pseudogene uc010msa.1 0 genome.wustl.edu 36 9 97815111 97815131 + In_Frame_Del DEL TGATGAGAGTCTTAGTAAACT TGATGAGAGTCTTAGTAAACT - novel unknown TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 TGATGAGAGTCTTAGTAAACT TGATGAGAGTCTTAGTAAACT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d16824ed-060b-4af6-9d82-6923219decee 2e7ad573-09da-488a-9dbc-38d19a37e456 9 97815111 97815131 TGATGAGAGTCTTAGTAAACT - DEL uc010msa.1 ENST00000407474 human ensembl 54_36p +1 known in_frame_del c.1188_1208 p.DESLSKL397in_frame_del 0.996:0.984:0.895:0.599:0.999:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL (deletion:cds_exon[97814328,97815306]) no_errors