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 ENSG00000212884 0 genome.wustl.edu 36 NT_113930 117722 117722 + Missense_Mutation SNP T T C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 NT_113930 117722 117722 T C SNP ENSG00000212884 ENST00000391571 human ensembl 54_36p +1 known missense c.353 p.M118T NULL NULL superfamily_SSF52283,HMMPfam_2-Hacid_dh - no_errors LMNB2 84823 genome.wustl.edu 36 19 2389255 2389255 + Missense_Mutation SNP T T A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 19 2389255 2389255 T A SNP LMNB2 NM_032737 human genbank 54_36p -1 reviewed missense c.530 p.Q177L 1.000 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF,superfamily_SSF74853,HMMPfam_IF_tail - no_errors CTNS 1497 genome.wustl.edu 36 17 3498892 3498892 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 17 3498892 3498892 C T SNP CTNS NM_001031681 human genbank 54_36p +1 validated missense c.143 p.P48L 0.411 NULL HMMPfam_PQ-loop,HMMSmart_SM00679 - no_errors BTBD12 84464 genome.wustl.edu 36 16 3580728 3580728 + Missense_Mutation SNP T T C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 16 3580728 3580728 T C SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional missense c.2912 p.E971G 0.013 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 - no_errors CLEC2A 387836 genome.wustl.edu 36 12 9976190 9976190 + Silent SNP A A G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 12 9976190 9976190 A G SNP CLEC2A ENST00000339766 human ensembl 54_36p -1 known silent c.6 p.I2 0.000 NULL superfamily_C-type_lectin_fold,HMMSmart_CLECT,HMMPfam_Lectin_C - no_errors MRVI1 10335 genome.wustl.edu 36 11 10571712 10571712 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 11 10571712 10571712 C T SNP MRVI1 NM_001098579 human genbank 54_36p -1 reviewed missense c.2051 p.R684H 1.000 HMMPfam_MRVI1 HMMPfam_MRVI1 - no_errors HIVEP1 3096 genome.wustl.edu 36 6 12272001 12272001 + Missense_Mutation SNP T T A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 6 12272001 12272001 T A SNP HIVEP1 NM_002114 human genbank 54_36p +1 validated missense c.7478 p.M2493K 0.992 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZFYVE20 64145 genome.wustl.edu 36 3 15091300 15091300 + Missense_Mutation SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 3 15091300 15091300 G T SNP ZFYVE20 NM_022340 human genbank 54_36p -1 validated missense c.1348 p.Q450K 0.001 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_FYVE,HMMPfam_FYVE,superfamily_FYVE_PHD_ZnF - no_errors FAM171A1 221061 genome.wustl.edu 36 10 15295612 15295612 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 10 15295612 15295612 C T SNP FAM171A1 NM_001010924 human genbank 54_36p -1 validated missense c.1981 p.A661T 0.009 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors CDRT1 374286 genome.wustl.edu 36 17 15433195 15433195 + Missense_Mutation SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 17 15433195 15433195 G A SNP CDRT1 NM_006382 human genbank 54_36p -1 provisional missense c.2078 p.A693V 0.001 NULL superfamily_F-box domain,HMMPfam_F-box,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors SPEN 23013 genome.wustl.edu 36 1 16119971 16119971 + Missense_Mutation SNP A A G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 16119971 16119971 A G SNP SPEN NM_015001 human genbank 54_36p +1 reviewed missense c.1655 p.K552R 1.000 superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC - no_errors BCL2L13 23786 genome.wustl.edu 36 22 16518590 16518590 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 22 16518590 16518590 C A SNP BCL2L13 NM_015367 human genbank 54_36p +1 validated nonsense c.113 p.S38* 0.811 superfamily_Bcl-2 inhibitors of programmed cell death superfamily_Bcl-2 inhibitors of programmed cell death,HMMPfam_Bcl-2 - no_errors SDC1 6382 genome.wustl.edu 36 2 20267348 20267348 + Missense_Mutation SNP G G C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 2 20267348 20267348 G C SNP SDC1 NM_001006946 human genbank 54_36p -1 reviewed missense c.334 p.P112A 0.783 HMMPfam_Syndecan HMMPfam_Syndecan,HMMSmart_4.1m,PatternScan_SYNDECAN - no_errors PLA2G2D 26279 genome.wustl.edu 36 1 20318555 20318555 + Silent SNP C C G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 20318555 20318555 C G SNP PLA2G2D NM_012400 human genbank 54_36p -1 provisional silent c.24 p.G8 0.544 NULL HMMSmart_PA2c,HMMPfam_Phospholip_A2_1,superfamily_PhospholipaseA2,PatternScan_PA2_HIS,PatternScan_PA2_ASP - no_errors CORO6 84940 genome.wustl.edu 36 17 24968369 24968369 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 17 24968369 24968369 C A SNP CORO6 ENST00000337761 human ensembl 54_36p -1 known nonsense c.13 p.G5* 0.001 NULL HMMPfam_DUF1900 - no_errors ARID1A 8289 genome.wustl.edu 36 1 26978272 26978272 + Nonsense_Mutation SNP G T T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 26978272 26978272 G T SNP ARID1A NM_006015 human genbank 54_36p +1 reviewed nonsense c.5296 p.E1766* 0.998 NULL superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501 - no_errors ARGFXP2 0 genome.wustl.edu 36 17 27501673 27501673 + RNA SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 17 27501673 27501673 G A SNP ARGFXP2 NR_002222 human genbank 54_36p -1 provisional rna NULL NULL 0.016 - - - pseudogene IFT172 26160 genome.wustl.edu 36 2 27521757 27521757 + Missense_Mutation SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 2 27521757 27521757 G T SNP IFT172 NM_015662 human genbank 54_36p -1 validated missense c.4978 p.Q1660K 1.000 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,superfamily_TPR-like,superfamily_HCP-like - no_errors LINGO2 158038 genome.wustl.edu 36 9 27939202 27939202 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 9 27939202 27939202 C T SNP LINGO2 NM_152570 human genbank 54_36p -1 provisional missense c.1468 p.G490R 1.000 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 - no_errors KRTAP22-1 337979 genome.wustl.edu 36 21 30895357 30895357 + Missense_Mutation SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 21 30895357 30895357 G T SNP KRTAP22-1 NM_181620 human genbank 54_36p +1 provisional missense c.47 p.G16V 0.005 NULL NULL - no_errors ENSG00000214613 0 genome.wustl.edu 36 16 32928380 32928380 + Missense_Mutation SNP A A G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 16 32928380 32928380 A G SNP ENSG00000214613 ENST00000398668 human ensembl 54_36p +1 known missense c.230 p.N77S 0.000 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_start_codon:no_stop_codon RICTOR 253260 genome.wustl.edu 36 5 39003233 39003233 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 5 39003233 39003233 C T SNP RICTOR NM_152756 human genbank 54_36p -1 validated missense c.1114 p.E372K 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_RasGEF_N - no_errors CNTN1 1272 genome.wustl.edu 36 12 39694315 39694315 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 12 39694315 39694315 C T SNP CNTN1 NM_001843 human genbank 54_36p +1 reviewed missense c.2132 p.S711L 1.000 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,PatternScan_N6_MTASE,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors MRPL2 51069 genome.wustl.edu 36 6 43131724 43131724 + Splice_Site SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 6 43131724 43131724 C T SNP MRPL2 NM_015950 human genbank 54_36p -1 reviewed splice_site c.521-1 e5-1 1.000 - - - no_errors SGCA 6442 genome.wustl.edu 36 17 45602573 45602573 + Missense_Mutation SNP C T T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 17 45602573 45602573 C T SNP SGCA NM_000023 human genbank 54_36p +1 reviewed missense c.818 p.P273L 0.534 HMMPfam_Sarcoglycan_2 HMMPfam_Sarcoglycan_2,HMMSmart_SM00736,superfamily_Cadherin-like - no_errors OR8S1 341568 genome.wustl.edu 36 12 47205920 47205920 + Missense_Mutation SNP A A T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 12 47205920 47205920 A T SNP OR8S1 NM_001005203 human genbank 54_36p +1 validated missense c.239 p.K80M 0.776 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 - no_errors MADD 8567 genome.wustl.edu 36 11 47289922 47289922 + Missense_Mutation SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 11 47289922 47289922 G T SNP MADD NM_003682 human genbank 54_36p +1 reviewed missense c.4222 p.V1408L 0.999 NULL HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMSmart_SM00801,HMMPfam_dDENN - no_errors ZNF226 7769 genome.wustl.edu 36 19 49373511 49373511 + Silent SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 19 49373511 49373511 G A SNP ZNF226 NM_001032372 human genbank 54_36p +1 validated silent c.2256 p.E752 0.999 superfamily_SSF57667 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors AGBL4 84871 genome.wustl.edu 36 1 50089665 50089665 + Missense_Mutation SNP G G C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 50089665 50089665 G C SNP AGBL4 ENST00000371839 human ensembl 54_36p -1 known missense c.147 p.C49W 1.000 NULL superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14 - no_errors MYH14 79784 genome.wustl.edu 36 19 55484646 55484646 + Missense_Mutation SNP A A G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 19 55484646 55484646 A G SNP MYH14 NM_001077186 human genbank 54_36p +1 reviewed missense c.4795 p.T1599A 1.000 HMMPfam_Myosin_tail_1,superfamily_Prefoldin 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 LOC100134747 0 genome.wustl.edu 36 7 55556065 55556065 + Missense_Mutation SNP A C C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 7 55556065 55556065 A C SNP LOC100134747 XM_001719364 human genbank 54_36p -1 model missense c.725 p.L242W 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon KLF8 11279 genome.wustl.edu 36 X 56276462 56276462 + Silent SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 X 56276462 56276462 C T SNP KLF8 ENST00000313456 human ensembl 54_36p +1 known silent c.231 p.F77 0.367 NULL HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_start_codon OR10W1 81341 genome.wustl.edu 36 11 57791458 57791458 + Missense_Mutation SNP A A C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 11 57791458 57791458 A C SNP OR10W1 NM_207374 human genbank 54_36p -1 provisional missense c.449 p.L150R 0.524 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PHLPP 23239 genome.wustl.edu 36 18 58713354 58713354 + Missense_Mutation SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 18 58713354 58713354 G A SNP PHLPP NM_194449 human genbank 54_36p +1 validated missense c.661 p.V221I 0.853 superfamily_L domain-like HMMPfam_PH,superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C - no_errors ZP1 22917 genome.wustl.edu 36 11 60391639 60391639 + Missense_Mutation SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 11 60391639 60391639 G T SNP ZP1 NM_207341 human genbank 54_36p +1 validated missense c.29 p.G10V 0.015 NULL superfamily_P_trefoil,PatternScan_P_TREFOIL,HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1 - no_errors OPRL1 4987 genome.wustl.edu 36 20 62199949 62199949 + Missense_Mutation SNP A A T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 20 62199949 62199949 A T SNP OPRL1 NM_000913 human genbank 54_36p +1 reviewed missense c.584 p.D195V 0.996 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 - no_errors ASB12 142689 genome.wustl.edu 36 X 63361792 63361792 + Missense_Mutation SNP A A T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 X 63361792 63361792 A T SNP ASB12 NM_130388 human genbank 54_36p -1 reviewed missense c.437 p.L146Q 1.000 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SOCS_box - no_errors RAVER2 55225 genome.wustl.edu 36 1 65069190 65069190 + Missense_Mutation SNP C C G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 65069190 65069190 C G SNP RAVER2 NM_018211 human genbank 54_36p +1 validated missense c.1971 p.D657E 0.957 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors MTL5 9633 genome.wustl.edu 36 11 68234934 68234934 + Silent SNP T T G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 11 68234934 68234934 T G SNP MTL5 NM_004923 human genbank 54_36p -1 reviewed silent c.1318 p.R440 0.000 NULL HMMPfam_CXC - no_errors EDA 1896 genome.wustl.edu 36 X 69164486 69164486 + Missense_Mutation SNP C A A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 X 69164486 69164486 C A SNP EDA NM_001399 human genbank 54_36p +1 reviewed missense c.581 p.P194Q 1.000 HMMPfam_Collagen HMMPfam_Collagen,superfamily_TNF-like,HMMPfam_TNF - no_errors LRRC7 57554 genome.wustl.edu 36 1 70261434 70261434 + Missense_Mutation SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 70261434 70261434 G A SNP LRRC7 NM_020794 human genbank 54_36p +1 validated missense c.1469 p.R490H 1.000 NULL superfamily_L domain-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors HN1 51155 genome.wustl.edu 36 17 70655274 70655274 + Missense_Mutation SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 17 70655274 70655274 G A SNP HN1 NM_001002032 human genbank 54_36p -1 validated missense c.269 p.A90V 0.888 NULL NULL - no_errors MYST4 23522 genome.wustl.edu 36 10 76459268 76459268 + Missense_Mutation SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 10 76459268 76459268 G T SNP MYST4 NM_012330 human genbank 54_36p +1 validated missense c.4680 p.Q1560H 1.000 NULL "HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS" - no_errors FSCN2 25794 genome.wustl.edu 36 17 77110200 77110200 + Silent SNP C T T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 17 77110200 77110200 C T SNP FSCN2 ENST00000334850 human ensembl 54_36p +1 known silent c.48 p.L16 0.427 superfamily_Actin_crosslink superfamily_Actin_crosslink,HMMPfam_Fascin - no_errors LPAR4 2846 genome.wustl.edu 36 X 77897147 77897147 + Missense_Mutation SNP A A G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 X 77897147 77897147 A G SNP LPAR4 NM_005296 human genbank 54_36p +1 reviewed missense c.125 p.N42S 1.000 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SYT1 6857 genome.wustl.edu 36 12 78203775 78203775 + Nonsense_Mutation SNP A A T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 12 78203775 78203775 A T SNP SYT1 NM_005639 human genbank 54_36p +1 validated nonsense c.244 p.K82* 1.000 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors CMYA5 202333 genome.wustl.edu 36 5 79065999 79065999 + Missense_Mutation SNP C C G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 5 79065999 79065999 C G SNP CMYA5 NM_153610 human genbank 54_36p +1 validated missense c.5655 p.F1885L 0.000 NULL superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_SPRY - no_errors LOC388965 388965 genome.wustl.edu 36 2 84371965 84371965 + RNA SNP T T A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 2 84371965 84371965 T A SNP LOC388965 NR_003663 human genbank 54_36p +1 provisional rna NULL NULL 0.196 - - - pseudogene TMTC3 160418 genome.wustl.edu 36 12 87084440 87084440 + Missense_Mutation SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 12 87084440 87084440 G A SNP TMTC3 NM_181783 human genbank 54_36p +1 validated missense c.1000 p.G334R 0.985 NULL HMMPfam_DUF1736,superfamily_Prenyl_trans,HMMPfam_TPR_1,HMMSmart_TPR - no_errors PSMAL 219595 genome.wustl.edu 36 11 89063830 89063830 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 11 89063830 89063830 G T SNP PSMAL NM_153696 human genbank 54_36p +1 predicted nonsense c.832 p.E278* 0.991 superfamily_SSF53187,superfamily_Transferrin_rcpt-like_dimerise superfamily_SSF53187,HMMPfam_Peptidase_M28,superfamily_Transferrin_rcpt-like_dimerise,HMMPfam_TFR_dimer - no_errors CCRK 23552 genome.wustl.edu 36 9 89774621 89774621 + Missense_Mutation SNP A A C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 9 89774621 89774621 A C SNP CCRK NM_001039803 human genbank 54_36p -1 reviewed missense c.597 p.N199K 0.680 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors CCDC88C 440193 genome.wustl.edu 36 14 90851801 90851801 + Missense_Mutation SNP C C A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 14 90851801 90851801 C A SNP CCDC88C NM_001080414 human genbank 54_36p -1 validated missense c.1611 p.E537D 1.000 NULL superfamily_Prefoldin - no_errors LOC389000 389000 genome.wustl.edu 36 2 91482150 91482150 + Missense_Mutation SNP A A G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 2 91482150 91482150 A G SNP LOC389000 XM_371534 human genbank 54_36p -1 model missense c.575 p.M192T 0.397 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - pseudogene SYK 6850 genome.wustl.edu 36 9 92679673 92679673 + Splice_Site SNP G C C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 9 92679673 92679673 G C SNP SYK NM_003177 human genbank 54_36p +1 validated splice_site c.1182-1 e9-1 0.994 - - - no_errors KIAA1529 57653 genome.wustl.edu 36 9 99130129 99130129 + Missense_Mutation SNP A A T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 9 99130129 99130129 A T SNP KIAA1529 NM_020893 human genbank 54_36p +1 predicted missense c.2217 p.E739D 0.013 NULL NULL - no_errors NOX1 27035 genome.wustl.edu 36 X 99990363 99990363 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 X 99990363 99990363 C T SNP NOX1 NM_007052 human genbank 54_36p -1 reviewed missense c.1480 p.D494N 0.796 superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_6 HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_8,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_6 - no_errors COL11A1 1301 genome.wustl.edu 36 1 103151825 103151825 + Missense_Mutation SNP C C A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 103151825 103151825 C A SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.4024 p.G1342C 1.000 NULL HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors CXorf57 55086 genome.wustl.edu 36 X 105742404 105742404 + Silent SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 X 105742404 105742404 G T SNP CXorf57 NM_018015 human genbank 54_36p +1 validated silent c.438 p.G146 0.984 NULL superfamily_Nucleic acid-binding proteins - no_errors C12orf51 283450 genome.wustl.edu 36 12 111189162 111189162 + Missense_Mutation SNP A A C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 12 111189162 111189162 A C SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated missense c.1033 p.L345V 1.000 NULL superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors CD96 10225 genome.wustl.edu 36 3 112839666 112839666 + Missense_Mutation SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 3 112839666 112839666 G A SNP CD96 NM_198196 human genbank 54_36p +1 reviewed missense c.1486 p.A496T 0.955 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors AMPD1 270 genome.wustl.edu 36 1 115024446 115024446 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 115024446 115024446 C T SNP AMPD1 NM_000036 human genbank 54_36p -1 reviewed missense c.724 p.D242N 1.000 NULL superfamily_SSF51556,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE - no_errors QTRTD1 79691 genome.wustl.edu 36 3 115287294 115287294 + Silent SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 3 115287294 115287294 G A SNP QTRTD1 NM_024638 human genbank 54_36p +1 provisional silent c.1101 p.L367 1.000 superfamily_tRNA_ribo_trans,HMMPfam_TGT superfamily_tRNA_ribo_trans,HMMPfam_TGT - no_errors KIAA1210 57481 genome.wustl.edu 36 X 118106089 118106089 + Silent SNP A A T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 X 118106089 118106089 A T SNP KIAA1210 NM_020721 human genbank 54_36p -1 validated silent c.3132 p.T1044 0.000 NULL NULL - no_errors TBX15 6913 genome.wustl.edu 36 1 119275926 119275926 + Silent SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 119275926 119275926 G A SNP TBX15 ENST00000369429 human ensembl 54_36p -1 known silent c.258 p.S86 1.000 NULL superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2 - no_errors CEP110 11064 genome.wustl.edu 36 9 122960969 122960969 + Missense_Mutation SNP C C G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 9 122960969 122960969 C G SNP CEP110 NM_007018 human genbank 54_36p +1 reviewed missense c.4780 p.Q1594E 1.000 NULL superfamily_L domain-like,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_Prefoldin,superfamily_tRNA-binding arm - no_errors PHAX 51808 genome.wustl.edu 36 5 125964596 125964596 + Missense_Mutation SNP G G T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 5 125964596 125964596 G T SNP PHAX NM_032177 human genbank 54_36p +1 validated missense c.43 p.D15Y 1.000 NULL HMMPfam_RNA_GG_bind - no_errors LOC644754 644754 genome.wustl.edu 36 5 126027167 126027167 + RNA SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 5 126027167 126027167 C T SNP LOC644754 XR_016963 human genbank 54_36p -1 model rna NULL NULL 0.009 - - - pseudogene TRPC7 57113 genome.wustl.edu 36 5 135629890 135629890 + Missense_Mutation SNP A A T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 5 135629890 135629890 A T SNP TRPC7 ENST00000265193 human ensembl 54_36p -1 known missense c.1259 p.F420Y 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_TRP_2,HMMPfam_Ion_trans - no_errors BRD8 10902 genome.wustl.edu 36 5 137528467 137528467 + Silent SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 5 137528467 137528467 G A SNP BRD8 NM_139199 human genbank 54_36p -1 reviewed silent c.1566 p.A522 0.972 NULL superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors MAGEC1 9947 genome.wustl.edu 36 X 140821159 140821159 + Silent SNP T T C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 X 140821159 140821159 T C SNP MAGEC1 NM_005462 human genbank 54_36p +1 reviewed silent c.303 p.S101 0.002 NULL HMMPfam_MAGE - no_errors FLJ43860 389690 genome.wustl.edu 36 8 142550403 142550403 + Missense_Mutation SNP C C A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 8 142550403 142550403 C A SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.1940 p.R647M 0.044 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - pseudogene PLEC1 5339 genome.wustl.edu 36 8 145063680 145063680 + Silent SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 8 145063680 145063680 G A SNP PLEC1 NM_201380 human genbank 54_36p -1 reviewed silent c.12708 p.L4236 0.908 superfamily_Plakin repeat,HMMSmart_SM00250 HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin - no_errors PBXIP1 57326 genome.wustl.edu 36 1 153190613 153190613 + Silent SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 153190613 153190613 G A SNP PBXIP1 NM_020524 human genbank 54_36p -1 provisional silent c.201 p.S67 0.000 NULL NULL - no_errors RABGAP1L 9910 genome.wustl.edu 36 1 172514498 172514498 + Missense_Mutation SNP C C G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 172514498 172514498 C G SNP RABGAP1L NM_014857 human genbank 54_36p +1 validated missense c.1281 p.S427R 1.000 NULL superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 - no_errors AADACL1 57552 genome.wustl.edu 36 3 173848444 173848444 + Missense_Mutation SNP G G A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 3 173848444 173848444 G A SNP AADACL1 NM_020792 human genbank 54_36p -1 provisional missense c.389 p.P130L 0.039 superfamily_alpha/beta-Hydrolases superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3,PatternScan_LIPASE_GDXG_SER - no_errors CHRNA1 1134 genome.wustl.edu 36 2 175326449 175326449 + Missense_Mutation SNP C C G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 2 175326449 175326449 C G SNP CHRNA1 ENST00000409323 human ensembl 54_36p -1 known missense c.806 p.C269S 0.004 NULL superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb - no_errors C1orf25 81627 genome.wustl.edu 36 1 183379145 183379145 + Missense_Mutation SNP G G C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 183379145 183379145 G C SNP C1orf25 NM_030934 human genbank 54_36p -1 reviewed missense c.826 p.P276A 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_TRM HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_TRM - no_errors MUC4 4585 genome.wustl.edu 36 3 197002389 197002389 + Missense_Mutation SNP C C G novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 3 197002389 197002389 C G SNP MUC4 NM_018406 human genbank 54_36p -1 reviewed missense c.457 p.E153Q 0.000 NULL HMMSmart_SM00539,HMMPfam_NIDO,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00723,HMMPfam_AMOP,HMMSmart_SM00216,HMMPfam_VWD,PatternScan_EGF_1,HMMSmart_SM00181,superfamily_EGF/Laminin - no_errors FZD7 8324 genome.wustl.edu 36 2 202608579 202608579 + Missense_Mutation SNP G A A novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 2 202608579 202608579 G A SNP FZD7 NM_003507 human genbank 54_36p +1 reviewed missense c.964 p.D322N 1.000 HMMPfam_Frizzled HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,HMMPfam_Frizzled - no_errors USP37 57695 genome.wustl.edu 36 2 219061351 219061351 + Missense_Mutation SNP C C T novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 2 219061351 219061351 C T SNP USP37 NM_020935 human genbank 54_36p -1 validated missense c.1510 p.D504N 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,HMMSmart_SM00726,HMMPfam_UIM,PatternScan_UCH_2_2 - no_errors MTR 4548 genome.wustl.edu 36 1 235119144 235119144 + Silent SNP T T C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 235119144 235119144 T C SNP MTR NM_000254 human genbank 54_36p +1 reviewed silent c.2892 p.Y964 0.998 superfamily_Methionine synthase activation domain-like superfamily_Homocysteine S-methyltransferase,HMMPfam_S-methyl_trans,HMMPfam_Pterin_bind,superfamily_Dihydropteroate synthetase-like,superfamily_Methionine synthase domain,HMMPfam_B12-binding_2,superfamily_Cobalamin (vitamin B12)-binding domain,HMMPfam_B12-binding,superfamily_Methionine synthase activation domain-like,HMMPfam_Met_synt_B12 - no_errors MT1P2 645745 genome.wustl.edu 36 1 235234183 235234183 + Missense_Mutation SNP G G C novel unknown TCGA-61-2610-02A-01W-1092-09 TCGA-61-2610-11A-01W-1092-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5dfba551-6f51-46e4-826a-c38c2c319fc8 6cc00fb7-0b02-4df3-90f4-eafcd684cba5 1 235234183 235234183 G C SNP MT1P2 ENST00000294916 human ensembl 54_36p -1 known missense c.113 p.P38R 0.582 HMMPfam_Metallothio,superfamily_Metallothionein,PatternScan_TNFR_NGFR_1 HMMPfam_Metallothio,superfamily_Metallothionein,PatternScan_TNFR_NGFR_1 - no_errors