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-CO2 0 genome.wustl.edu 36 MT 8010 8010 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee MT 8010 8010 G A SNP MT-CO2 ENST00000361739 human ensembl 54_36p +1 known missense c.424 p.V142M NULL superfamily_Cupredoxins,HMMPfam_COX2 HMMPfam_COX2_TM,superfamily_Cytochrome c oxidase subunit II-like transmembrane region,superfamily_Cupredoxins,HMMPfam_COX2,PatternScan_COX2 - no_errors CSF2RA 1438 genome.wustl.edu 36 X 1369297 1369297 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee X 1369297 1369297 G A SNP CSF2RA NM_006140 human genbank 54_36p +1 reviewed missense c.541 p.D181N 0.006 superfamily_Fibronectin type III superfamily_Fibronectin type III,HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2 - no_errors ZNF343 79175 genome.wustl.edu 36 20 2412099 2412099 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 20 2412099 2412099 C A SNP ZNF343 NM_024325 human genbank 54_36p -1 validated missense c.1508 p.S503I 0.000 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,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZBED1 9189 genome.wustl.edu 36 X 2417124 2417124 + Missense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee X 2417124 2417124 T A SNP ZBED1 NM_004729 human genbank 54_36p -1 validated missense c.1637 p.N546I 1.000 NULL HMMSmart_ZnF_BED,HMMPfam_zf-BED,HMMPfam_hATC - no_errors OR52K3P 0 genome.wustl.edu 36 11 4453361 4453361 + Missense_Mutation SNP T T G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 11 4453361 4453361 T G SNP OR52K3P ENST00000380435 human ensembl 54_36p +1 known missense c.136 p.L46V 0.000 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like - no_errors NPHP4 261734 genome.wustl.edu 36 1 5944488 5944488 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 5944488 5944488 G A SNP NPHP4 NM_015102 human genbank 54_36p -1 reviewed missense c.626 p.S209F 1.000 NULL NULL - no_errors TP53 7157 genome.wustl.edu 36 17 7519281 7519281 + Splice_Site SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 7519281 7519281 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.376-2 e4-2 1.000 - - - no_errors PER3 8863 genome.wustl.edu 36 1 7812613 7812613 + Missense_Mutation SNP A A G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 7812613 7812613 A G SNP PER3 NM_016831 human genbank 54_36p +1 reviewed missense c.2992 p.K998E 0.000 NULL HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC - no_errors PER1 5187 genome.wustl.edu 36 17 7985897 7985897 + Missense_Mutation SNP A A G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 7985897 7985897 A G SNP PER1 NM_002616 human genbank 54_36p -1 reviewed missense c.3551 p.V1184A 1.000 NULL HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3 - no_errors OFCC1 266553 genome.wustl.edu 36 6 10016813 10016813 + Silent SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 6 10016813 10016813 G A SNP OFCC1 NM_153003 human genbank 54_36p -1 provisional silent c.267 p.Y89 1.000 NULL NULL - no_errors MYH4 4622 genome.wustl.edu 36 17 10297229 10297229 + Nonsense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 10297229 10297229 T A SNP MYH4 NM_017533 human genbank 54_36p -1 validated nonsense c.3076 p.K1026* 1.000 NULL HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1 - no_errors MYH1 4619 genome.wustl.edu 36 17 10339325 10339325 + Missense_Mutation SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 10339325 10339325 T C SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.5204 p.E1735G 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors DGKB 1607 genome.wustl.edu 36 7 14707858 14707858 + Silent SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 14707858 14707858 C T SNP DGKB NM_004080 human genbank 54_36p -1 reviewed silent c.489 p.T163 0.986 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045 - no_errors BFSP1 631 genome.wustl.edu 36 20 17440702 17440702 + Missense_Mutation SNP T T G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 20 17440702 17440702 T G SNP BFSP1 NM_001195 human genbank 54_36p -1 reviewed missense c.546 p.E182D 0.999 NULL superfamily_Prefoldin - no_errors MRC1 4360 genome.wustl.edu 36 10 18152243 18152243 + Silent SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 10 18152243 18152243 T A SNP MRC1 NM_002438 human genbank 54_36p +1 validated silent c.255 p.A85 0.001 superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors LOC645313 645313 genome.wustl.edu 36 17 20629562 20629562 + RNA SNP A A G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 20629562 20629562 A G SNP LOC645313 XR_017585 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene KRT18P40 390904 genome.wustl.edu 36 19 20936135 20936135 + RNA SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 19 20936135 20936135 C T SNP KRT18P40 XR_017288 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene XRN2 22803 genome.wustl.edu 36 20 21272813 21272813 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 20 21272813 21272813 G A SNP XRN2 NM_012255 human genbank 54_36p +1 reviewed missense c.1496 p.S499N 1.000 NULL HMMPfam_XRN_N - no_errors FAM126A 84668 genome.wustl.edu 36 7 22984446 22984446 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 22984446 22984446 G T SNP FAM126A NM_032581 human genbank 54_36p -1 reviewed nonsense c.300 p.C100* 1.000 HMMPfam_Hyccin HMMPfam_Hyccin - no_errors ASAP3 55616 genome.wustl.edu 36 1 23632290 23632290 + Missense_Mutation SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 23632290 23632290 G C SNP ASAP3 NM_017707 human genbank 54_36p -1 reviewed missense c.2190 p.N730K 1.000 NULL PatternScan_AIPM_HOMOCIT_SYNTH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors NR1D2 9975 genome.wustl.edu 36 3 23978907 23978907 + Missense_Mutation SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 3 23978907 23978907 T C SNP NR1D2 NM_005126 human genbank 54_36p +1 reviewed missense c.953 p.L318P 0.981 superfamily_Str_ncl_receptor HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep - no_errors ABHD12 26090 genome.wustl.edu 36 20 25268277 25268277 + Missense_Mutation SNP A A G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 20 25268277 25268277 A G SNP ABHD12 ENST00000376517 human ensembl 54_36p -1 known missense c.37 p.C13R 0.026 NULL superfamily_SSF53474 - no_stop_codon BTN3A3 10384 genome.wustl.edu 36 6 26560457 26560457 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 6 26560457 26560457 C G SNP BTN3A3 NM_006994 human genbank 54_36p +1 validated missense c.1594 p.L532V 0.013 NULL superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors HIST1H2AM 8336 genome.wustl.edu 36 6 27968646 27968646 + Silent SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 6 27968646 27968646 G T SNP HIST1H2AM NM_003514 human genbank 54_36p -1 reviewed silent c.261 p.A87 1.000 superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A - no_errors THOC5 8563 genome.wustl.edu 36 22 28257908 28257908 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 22 28257908 28257908 C G SNP THOC5 NM_001002877 human genbank 54_36p -1 validated missense c.759 p.Q253H 0.994 HMMPfam_FimP HMMPfam_FimP - no_errors AZI2 64343 genome.wustl.edu 36 3 28343399 28343399 + Missense_Mutation SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 3 28343399 28343399 T C SNP AZI2 NM_022461 human genbank 54_36p -1 validated missense c.694 p.N232D 1.000 NULL NULL - no_errors DEPDC5 9681 genome.wustl.edu 36 22 30623484 30623484 + Missense_Mutation SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 22 30623484 30623484 G C SNP DEPDC5 NM_014662 human genbank 54_36p +1 validated missense c.4127 p.R1376P 1.000 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049" - no_errors HSPA1L 3305 genome.wustl.edu 36 6 31887196 31887196 + Missense_Mutation SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 6 31887196 31887196 G C SNP HSPA1L NM_005527 human genbank 54_36p -1 reviewed missense c.533 p.P178R 1.000 superfamily_SSF53067,HMMPfam_HSP70 superfamily_SSF53067,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934 - no_errors EHMT2 10919 genome.wustl.edu 36 6 31972459 31972459 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 6 31972459 31972459 C A SNP EHMT2 NM_006709 human genbank 54_36p -1 reviewed missense c.231 p.E77D 0.997 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SET domain,HMMSmart_SM00468,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SM00317 - no_errors NPSR1 387129 genome.wustl.edu 36 7 34664649 34664649 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 34664649 34664649 G T SNP NPSR1 NM_207173 human genbank 54_36p +1 reviewed nonsense c.100 p.E34* 0.829 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC100132910 0 genome.wustl.edu 36 18 35169000 35169000 + Missense_Mutation SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 18 35169000 35169000 T C SNP LOC100132910 XM_001720527 human genbank 54_36p +1 model missense c.194 p.F65S 0.995 NULL NULL - no_errors THRA 7067 genome.wustl.edu 36 17 35498269 35498269 + Silent SNP A A G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 35498269 35498269 A G SNP THRA NM_003250 human genbank 54_36p +1 reviewed silent c.972 p.L324 1.000 superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors ZNF536 9745 genome.wustl.edu 36 19 35626447 35626447 + Silent SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 19 35626447 35626447 C A SNP ZNF536 NM_014717 human genbank 54_36p +1 provisional silent c.138 p.A46 1.000 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TRIM44 54765 genome.wustl.edu 36 11 35641751 35641751 + Missense_Mutation SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 11 35641751 35641751 G C SNP TRIM44 NM_017583 human genbank 54_36p +1 reviewed missense c.516 p.E172D 1.000 NULL HMMPfam_zf-B_box,HMMSmart_BBOX,superfamily_SSF57845 - no_errors ENSG00000200113 0 genome.wustl.edu 36 7 37425877 37425877 + RNA SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 37425877 37425877 T C SNP ENSG00000200113 ENST00000363243 human ensembl 54_36p +1 novel rna NULL NULL 0.073 - - - no_errors GNL2 29889 genome.wustl.edu 36 1 37807469 37807469 + Missense_Mutation SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 37807469 37807469 C T SNP GNL2 NM_013285 human genbank 54_36p -1 validated missense c.1438 p.E480K 0.872 NULL HMMPfam_NGP1NT,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1 - no_errors LSM12 124801 genome.wustl.edu 36 17 39496788 39496788 + Silent SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 39496788 39496788 G T SNP LSM12 NM_152344 human genbank 54_36p -1 validated silent c.165 p.I55 1.000 NULL HMMPfam_AD - no_errors ADAM11 4185 genome.wustl.edu 36 17 40204530 40204530 + Missense_Mutation SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 40204530 40204530 C T SNP ADAM11 NM_002390 human genbank 54_36p +1 reviewed missense c.434 p.S145F 1.000 HMMPfam_Pep_M12B_propep "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,superfamily_EGF/Laminin,PatternScan_EGF_1" - no_errors SREBF2 6721 genome.wustl.edu 36 22 40601315 40601315 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 22 40601315 40601315 C G SNP SREBF2 NM_004599 human genbank 54_36p +1 reviewed missense c.1118 p.A373G 1.000 superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH - no_errors SETBP1 26040 genome.wustl.edu 36 18 40787291 40787291 + Missense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 18 40787291 40787291 T A SNP SETBP1 NM_015559 human genbank 54_36p +1 validated missense c.3826 p.S1276T 0.905 NULL HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors GTSF1L 149699 genome.wustl.edu 36 20 41788535 41788535 + Missense_Mutation SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 20 41788535 41788535 C T SNP GTSF1L NM_176791 human genbank 54_36p -1 validated missense c.214 p.E72K 0.158 HMMPfam_UPF0224 HMMPfam_UPF0224 - no_errors HIVEP3 59269 genome.wustl.edu 36 1 41820959 41820959 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 41820959 41820959 C A SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated missense c.2097 p.M699I 1.000 NULL PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors USP49 25862 genome.wustl.edu 36 6 41874475 41874475 + Missense_Mutation SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 6 41874475 41874475 C T SNP USP49 NM_018561 human genbank 54_36p -1 provisional missense c.1841 p.G614E 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_2 HMMSmart_SM00290,HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors CDC27 996 genome.wustl.edu 36 17 42561792 42561792 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 42561792 42561792 C G SNP CDC27 NM_001256 human genbank 54_36p -1 reviewed missense c.2126 p.R709T 1.000 superfamily_SSF48452,HMMSmart_TPR superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR - no_errors RYR1 6261 genome.wustl.edu 36 19 43629235 43629235 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 19 43629235 43629235 C A SNP RYR1 NM_000540 human genbank 54_36p +1 reviewed missense c.787 p.P263T 1.000 HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815) HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors MMP9 4318 genome.wustl.edu 36 20 44073250 44073250 + Silent SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 20 44073250 44073250 G A SNP MMP9 NM_004994 human genbank 54_36p +1 reviewed silent c.711 p.E237 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1" "superfamily_PGBD-like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_PT,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN" - no_errors TCTE1 202500 genome.wustl.edu 36 6 44363344 44363344 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 6 44363344 44363344 G A SNP TCTE1 NM_182539 human genbank 54_36p -1 provisional missense c.197 p.A66V 0.995 NULL superfamily_SSF52047 - no_errors uc001jgd.1 0 genome.wustl.edu 36 10 48889506 48889506 + Missense_Mutation SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 10 48889506 48889506 G T SNP uc001jgd.1 ENST00000339771 human ensembl 54_36p -1 known missense c.651 p.N217K 1.000 NULL superfamily_SSF50729,HMMPfam_PH - no_start_codon:no_stop_codon AP4E1 23431 genome.wustl.edu 36 15 48991585 48991585 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 15 48991585 48991585 C T SNP AP4E1 NM_007347 human genbank 54_36p +1 validated nonsense c.169 p.Q57* 1.000 superfamily_ARM-type_fold,HMMPfam_Adaptin_N superfamily_ARM-type_fold,HMMPfam_Adaptin_N,HMMPfam_Coatamer_beta_C - no_errors GLDN 342035 genome.wustl.edu 36 15 49484226 49484226 + Missense_Mutation SNP A A G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 15 49484226 49484226 A G SNP GLDN NM_181789 human genbank 54_36p +1 validated missense c.1639 p.T547A 0.001 NULL HMMPfam_Collagen,HMMPfam_OLF,HMMSmart_SM00284 - no_errors CHD9 80205 genome.wustl.edu 36 16 51747939 51747939 + Missense_Mutation SNP A A T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 16 51747939 51747939 A T SNP CHD9 NM_025134 human genbank 54_36p +1 validated missense c.437 p.H146L 1.000 NULL superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_BRK - no_errors OLFM4 10562 genome.wustl.edu 36 13 52522718 52522718 + Silent SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 13 52522718 52522718 C A SNP OLFM4 NM_006418 human genbank 54_36p +1 reviewed silent c.1344 p.T448 0.979 HMMPfam_OLF,HMMSmart_OLF HMMPfam_OLF,HMMSmart_OLF - no_errors ERBB3 2065 genome.wustl.edu 36 12 54773593 54773593 + Missense_Mutation SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 12 54773593 54773593 G C SNP ERBB3 NM_001982 human genbank 54_36p +1 reviewed missense c.1472 p.R491T 0.013 superfamily_L domain-like,HMMSmart_SM00261 superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMSmart_SM00261,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220 - no_errors FAM83B 222584 genome.wustl.edu 36 6 54913105 54913105 + Missense_Mutation SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 6 54913105 54913105 G T SNP FAM83B NM_001010872 human genbank 54_36p +1 validated missense c.1377 p.R459S 1.000 NULL HMMPfam_DUF1669,superfamily_SSF56024 - no_errors AMFR 267 genome.wustl.edu 36 16 54993171 54993171 + Missense_Mutation SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 16 54993171 54993171 G C SNP AMFR NM_001144 human genbank 54_36p -1 reviewed missense c.1060 p.L354V 1.000 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_CUE,HMMSmart_SM00546 - no_errors DHCR24 1718 genome.wustl.edu 36 1 55092355 55092355 + Missense_Mutation SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 55092355 55092355 C T SNP DHCR24 NM_014762 human genbank 54_36p -1 reviewed missense c.1161 p.M387I 1.000 NULL superfamily_FAD-binding_2,HMMPfam_FAD_binding_4 - no_errors RP1 6101 genome.wustl.edu 36 8 55696210 55696210 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 8 55696210 55696210 G A SNP RP1 ENST00000220676 human ensembl 54_36p +1 known missense c.131 p.G44E 1.000 superfamily_SSF89837,HMMSmart_DCX superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX - no_errors SCN4A 6329 genome.wustl.edu 36 17 59374869 59374869 + Missense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 59374869 59374869 T A SNP SCN4A NM_000334 human genbank 54_36p -1 reviewed missense c.3986 p.K1329M 1.000 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ - no_errors LOC643358 643358 genome.wustl.edu 36 16 59647143 59647143 + RNA SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 16 59647143 59647143 G A SNP LOC643358 XR_017145 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene LILRA1 11024 genome.wustl.edu 36 19 59798228 59798228 + Silent SNP A A T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 19 59798228 59798228 A T SNP LILRA1 NM_006863 human genbank 54_36p +1 provisional silent c.357 p.T119 1.000 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors ISCA1L 389293 genome.wustl.edu 36 5 62108612 62108612 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 5 62108612 62108612 G A SNP ISCA1L NM_001080540 human genbank 54_36p -1 provisional nonsense c.235 p.Q79* 1.000 superfamily_HesB_yadR_yfhF-like,HMMPfam_Fe-S_biosyn superfamily_HesB_yadR_yfhF-like,HMMPfam_Fe-S_biosyn - no_errors GANAB 23193 genome.wustl.edu 36 11 62153999 62153999 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 11 62153999 62153999 C G SNP GANAB NM_198335 human genbank 54_36p -1 validated missense c.1666 p.A556P 0.987 HMMPfam_Glyco_hydro_31 HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2 - no_errors SNX1 6642 genome.wustl.edu 36 15 62210974 62210974 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 15 62210974 62210974 C G SNP SNX1 NM_003099 human genbank 54_36p +1 reviewed missense c.1051 p.L351V 0.923 HMMPfam_Vps5 HMMPfam_Sorting_nexin,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMPfam_Vps5 - no_errors LCTL 197021 genome.wustl.edu 36 15 64643003 64643003 + Missense_Mutation SNP T T G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 15 64643003 64643003 T G SNP LCTL NM_207338 human genbank 54_36p -1 validated missense c.385 p.K129Q 0.757 HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F1_2,PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors LOC642236 642236 genome.wustl.edu 36 9 67945115 67945115 + RNA SNP C A A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 9 67945115 67945115 C A SNP LOC642236 XR_041085 human genbank 54_36p -1 model rna NULL NULL 0.003 - - - no_errors WBP2 23558 genome.wustl.edu 36 17 71357283 71357283 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 71357283 71357283 C G SNP WBP2 NM_012478 human genbank 54_36p -1 reviewed missense c.301 p.G101R 1.000 HMMPfam_WWbp HMMPfam_GRAM,HMMPfam_WWbp - no_errors FOLR1 2348 genome.wustl.edu 36 11 71583984 71583984 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 11 71583984 71583984 G A SNP FOLR1 NM_000802 human genbank 54_36p +1 reviewed missense c.190 p.A64T 0.566 HMMPfam_Folate_rec HMMPfam_Folate_rec - no_errors KIAA1274 27143 genome.wustl.edu 36 10 71977192 71977192 + Missense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 10 71977192 71977192 T A SNP KIAA1274 NM_014431 human genbank 54_36p +1 validated missense c.2246 p.I749N 1.000 NULL superfamily_SSF52799 - no_errors MOBKL1A 92597 genome.wustl.edu 36 4 72059814 72059814 + Missense_Mutation SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 4 72059814 72059814 T C SNP MOBKL1A NM_173468 human genbank 54_36p +1 reviewed missense c.356 p.M119T 1.000 HMMPfam_Mob1_phocein,superfamily_Mob1/phocein HMMPfam_Mob1_phocein,superfamily_Mob1/phocein - no_errors DNAH17 8632 genome.wustl.edu 36 17 73958384 73958384 + Missense_Mutation SNP T T G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 17 73958384 73958384 T G SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.10859 p.H3620P 1.000 NULL HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy - no_errors ACADM 34 genome.wustl.edu 36 1 75971002 75971002 + Missense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 75971002 75971002 T A SNP ACADM NM_000016 human genbank 54_36p +1 reviewed missense c.204 p.D68E 0.975 superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,PatternScan_ACYL_COA_DH_2 - no_errors C14orf148 122945 genome.wustl.edu 36 14 76930734 76930734 + Missense_Mutation SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 14 76930734 76930734 G T SNP C14orf148 ENST00000380835 human ensembl 54_36p -1 known missense c.1073 p.S358Y 0.015 NULL PatternScan_P5CR,superfamily_NAD(P)-bd,HMMPfam_F420_oxidored - no_errors LOC653631 653631 genome.wustl.edu 36 1 78049154 78049154 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 78049154 78049154 G A SNP LOC653631 XM_930476 human genbank 54_36p -1 model nonsense c.901 p.Q301* 1.000 HMMPfam_DUF1855 superfamily_Domain from hypothetical 2610208m17rik protein,HMMPfam_DUF1855 - no_errors POLR1A 25885 genome.wustl.edu 36 2 86108155 86108155 + Missense_Mutation SNP A A T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 2 86108155 86108155 A T SNP POLR1A NM_015425 human genbank 54_36p -1 validated missense c.5065 p.S1689T 0.998 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb1_1,HMMSmart_SM00663,HMMPfam_RNA_pol_Rpb1_2,HMMPfam_RNA_pol_Rpb1_3,HMMPfam_RNA_pol_Rpb1_4,HMMPfam_RNA_pol_Rpb1_5 - no_errors E2F5 1875 genome.wustl.edu 36 8 86311668 86311668 + Missense_Mutation SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 8 86311668 86311668 T C SNP E2F5 NM_001951 human genbank 54_36p +1 reviewed missense c.908 p.I303T 1.000 NULL superfamily_SSF46785,HMMPfam_E2F_TDP - no_errors VGLL3 389136 genome.wustl.edu 36 3 87100499 87100499 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 3 87100499 87100499 C G SNP VGLL3 NM_016206 human genbank 54_36p -1 validated missense c.868 p.A290P 1.000 NULL HMMPfam_Vg_Tdu,HMMSmart_SM00711 - no_errors SPATA7 55812 genome.wustl.edu 36 14 87974333 87974333 + Silent SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 14 87974333 87974333 G C SNP SPATA7 NM_018418 human genbank 54_36p +1 validated silent c.1614 p.V538 0.111 NULL NULL - no_errors KLHL8 57563 genome.wustl.edu 36 4 88310789 88310789 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 4 88310789 88310789 C A SNP KLHL8 NM_020803 human genbank 54_36p -1 validated missense c.1211 p.R404L 1.000 superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612 - no_errors AKAP9 10142 genome.wustl.edu 36 7 91569903 91569903 + Missense_Mutation SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 91569903 91569903 G C SNP AKAP9 NM_005751 human genbank 54_36p +1 reviewed missense c.11157 p.K3719N 1.000 HMMPfam_PACT_coil_coil PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil - no_errors MCTP2 55784 genome.wustl.edu 36 15 92728343 92728343 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 15 92728343 92728343 C A SNP MCTP2 NM_018349 human genbank 54_36p +1 provisional missense c.1671 p.N557K 1.000 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors ATP5J2 9551 genome.wustl.edu 36 7 98894785 98894785 + Silent SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 98894785 98894785 C T SNP ATP5J2 NM_004889 human genbank 54_36p -1 reviewed silent c.177 p.K59 1.000 HMMPfam_WRW HMMPfam_WRW - no_errors NR1H4 9971 genome.wustl.edu 36 12 99421331 99421331 + Missense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 12 99421331 99421331 T A SNP NR1H4 ENST00000188403 human ensembl 54_36p +1 known missense c.35 p.I12N 0.000 NULL HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors PCDH19 57526 genome.wustl.edu 36 X 99548556 99548556 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee X 99548556 99548556 G A SNP PCDH19 NM_001105243 human genbank 54_36p -1 validated missense c.1696 p.P566S 1.000 superfamily_Cadherin HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors DCBLD2 131566 genome.wustl.edu 36 3 100023798 100023798 + Missense_Mutation SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 3 100023798 100023798 T C SNP DCBLD2 NM_080927 human genbank 54_36p -1 validated missense c.794 p.Y265C 1.000 superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1 - no_errors IL1RAPL2 26280 genome.wustl.edu 36 X 104898059 104898059 + Missense_Mutation SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee X 104898059 104898059 C T SNP IL1RAPL2 NM_017416 human genbank 54_36p +1 reviewed missense c.1810 p.P604S 0.965 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors NEURL 9148 genome.wustl.edu 36 10 105320859 105320859 + Missense_Mutation SNP A A T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 10 105320859 105320859 A T SNP NEURL NM_004210 human genbank 54_36p +1 validated missense c.326 p.K109M 1.000 HMMSmart_SM00588,HMMPfam_Neuralized HMMSmart_SM00588,HMMPfam_Neuralized,superfamily_RING/U-box - no_errors LOC642732 642732 genome.wustl.edu 36 11 106203477 106203477 + RNA SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 11 106203477 106203477 T C SNP LOC642732 XR_016381 human genbank 54_36p -1 model rna NULL NULL 0.960 - - - pseudogene COL4A6 1288 genome.wustl.edu 36 X 107289498 107289498 + Silent SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee X 107289498 107289498 G A SNP COL4A6 NM_001847 human genbank 54_36p -1 reviewed silent c.4665 p.P1555 0.898 HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like - no_errors KCNV1 27012 genome.wustl.edu 36 8 111053672 111053672 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 8 111053672 111053672 G A SNP KCNV1 NM_014379 human genbank 54_36p -1 reviewed missense c.982 p.H328Y 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors DOCK4 9732 genome.wustl.edu 36 7 111274306 111274306 + Missense_Mutation SNP G G C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 111274306 111274306 G C SNP DOCK4 NM_014705 human genbank 54_36p -1 reviewed missense c.2586 p.I862M 1.000 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2 - no_errors PPP1R3A 5506 genome.wustl.edu 36 7 113307348 113307348 + Silent SNP A A G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 113307348 113307348 A G SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed silent c.1035 p.D345 0.768 NULL HMMPfam_CBM_21 - no_errors CSMD3 114788 genome.wustl.edu 36 8 113318684 113318684 + Missense_Mutation SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 8 113318684 113318684 G T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.10538 p.P3513H 1.000 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors SUSD1 64420 genome.wustl.edu 36 9 113880646 113880646 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 9 113880646 113880646 C G SNP SUSD1 NM_022486 human genbank 54_36p -1 validated missense c.1746 p.Q582H 0.999 NULL superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors ANAPC5 51433 genome.wustl.edu 36 12 120257808 120257808 + Silent SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 12 120257808 120257808 T C SNP ANAPC5 NM_016237 human genbank 54_36p -1 reviewed silent c.861 p.E287 0.985 superfamily_TPR-like superfamily_TPR-like,HMMSmart_SM00028 - no_errors COL14A1 7373 genome.wustl.edu 36 8 121329084 121329084 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 8 121329084 121329084 G A SNP COL14A1 NM_021110 human genbank 54_36p +1 validated missense c.2531 p.R844Q 1.000 HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen - no_errors PDIA5 10954 genome.wustl.edu 36 3 124312501 124312501 + Silent SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 3 124312501 124312501 G A SNP PDIA5 NM_006810 human genbank 54_36p +1 provisional silent c.501 p.K167 1.000 superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1,PatternScan_ER_TARGET - no_errors ACTRT1 139741 genome.wustl.edu 36 X 127012764 127012764 + Missense_Mutation SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee X 127012764 127012764 G T SNP ACTRT1 NM_138289 human genbank 54_36p -1 provisional missense c.1103 p.T368K 0.927 HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 HMMPfam_Actin,superfamily_SSF53067,HMMSmart_ACTIN - no_errors YSK4 80122 genome.wustl.edu 36 2 135460835 135460835 + Missense_Mutation SNP A A T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 2 135460835 135460835 A T SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.2077 p.S693T 0.377 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors PPP2R3A 5523 genome.wustl.edu 36 3 137307790 137307790 + Missense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 3 137307790 137307790 T A SNP PPP2R3A NM_002718 human genbank 54_36p +1 reviewed missense c.3265 p.F1089I 1.000 NULL superfamily_EF-hand,PatternScan_EF_HAND_1 - no_errors MCF2 4168 genome.wustl.edu 36 X 138526168 138526168 + Missense_Mutation SNP A A T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee X 138526168 138526168 A T SNP MCF2 NM_001099855 human genbank 54_36p -1 validated missense c.1310 p.I437K 0.831 NULL HMMSmart_SEC14,superfamily_Spectrin,HMMSmart_SPEC,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors OR2F2 135948 genome.wustl.edu 36 7 143263493 143263493 + Missense_Mutation SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 143263493 143263493 C T SNP OR2F2 NM_001004685 human genbank 54_36p +1 provisional missense c.235 p.P79S 0.880 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 PRKAG2 51422 genome.wustl.edu 36 7 150900724 150900724 + Missense_Mutation SNP T T A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 7 150900724 150900724 T A SNP PRKAG2 NM_016203 human genbank 54_36p -1 reviewed missense c.1010 p.Q337L 1.000 HMMPfam_CBS superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116 - no_errors ARHGEF11 9826 genome.wustl.edu 36 1 155176792 155176792 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 155176792 155176792 C A SNP ARHGEF11 NM_198236 human genbank 54_36p -1 reviewed missense c.3564 p.E1188D 0.049 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,HMMSmart_RGS,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH - no_errors ODZ2 57451 genome.wustl.edu 36 5 167606446 167606446 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 5 167606446 167606446 C A SNP ODZ2 ENST00000388903 human ensembl 54_36p +1 known missense c.5921 p.S1974Y 1.000 superfamily_Concanavalin A-like lectins/glucanases HMMPfam_Ten_N,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain,superfamily_NHL repeat,HMMPfam_NHL,HMMPfam_RHS_repeat - no_errors HAT1 8520 genome.wustl.edu 36 2 172530669 172530669 + Missense_Mutation SNP T T G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 2 172530669 172530669 T G SNP HAT1 NM_003642 human genbank 54_36p +1 reviewed missense c.605 p.F202C 1.000 superfamily_Acyl_CoA_acyltransferase superfamily_Acyl_CoA_acyltransferase,HMMPfam_Hat1_N - no_errors PAPPA2 60676 genome.wustl.edu 36 1 174792848 174792848 + Missense_Mutation SNP C C G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 174792848 174792848 C G SNP PAPPA2 NM_020318 human genbank 54_36p +1 validated missense c.767 p.S256C 0.183 superfamily_Concanavalin A-like lectins/glucanases "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00004,HMMPfam_Notch,PatternScan_ZINC_PROTEASE,HMMPfam_Peptidase_M43,PatternScan_N6_MTASE,superfamily_Complement control module/SCR domain,HMMSmart_SM00032,HMMPfam_Sushi,superfamily_Notch domain" - no_errors PAPPA2 60676 genome.wustl.edu 36 1 174927994 174927994 + Silent SNP C C T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 174927994 174927994 C T SNP PAPPA2 NM_020318 human genbank 54_36p +1 validated silent c.2541 p.P847 0.998 HMMPfam_Peptidase_M43 "HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain,PatternScan_N6_MTASE,PatternScan_ZINC_PROTEASE,HMMSmart_SM00560,HMMPfam_Peptidase_M43,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Complement control module/SCR domain,superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors HTR3D 200909 genome.wustl.edu 36 3 185236976 185236976 + Missense_Mutation SNP C C A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 3 185236976 185236976 C A SNP HTR3D NM_182537 human genbank 54_36p +1 reviewed missense c.95 p.S32Y 0.959 NULL superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb - no_errors SORBS2 8470 genome.wustl.edu 36 4 186810812 186810812 + Missense_Mutation SNP G G A novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 4 186810812 186810812 G A SNP SORBS2 NM_021069 human genbank 54_36p -1 reviewed missense c.332 p.P111L 0.999 HMMPfam_Sorb,HMMSmart_SM00459 HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors KCNH1 3756 genome.wustl.edu 36 1 208923619 208923619 + Missense_Mutation SNP G G T novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 208923619 208923619 G T SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.2597 p.T866K 0.997 NULL 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 FN1 2335 genome.wustl.edu 36 2 215967656 215967656 + Silent SNP A A G novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 2 215967656 215967656 A G SNP FN1 NM_212482 human genbank 54_36p -1 reviewed silent c.3636 p.P1212 0.871 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_Fibronectin type I module,HMMPfam_fn1,PatternScan_FN1_1,HMMSmart_SM00058,PatternScan_EGF_1,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors OR2W5 441932 genome.wustl.edu 36 1 245721521 245721521 + Missense_Mutation SNP T T C novel unknown TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 214738d1-a084-4024-a0e5-7f4683233a06 47f4fbdc-08e4-445d-a5cd-be801f5fa9ee 1 245721521 245721521 T C SNP OR2W5 NM_001004698 human genbank 54_36p +1 provisional missense c.469 p.F157L 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors