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 SMCHD1 23347 genome.wustl.edu 36 18 2716478 2716478 + Missense_Mutation SNP G A A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 18 2716478 2716478 G A SNP SMCHD1 NM_015295 human genbank 54_36p +1 validated missense c.2729 p.G910D 0.997 NULL superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,superfamily_Smc hinge domain,HMMPfam_SMC_hinge - no_errors FASTKD5 60493 genome.wustl.edu 36 20 3075432 3075432 + Missense_Mutation SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 20 3075432 3075432 G T SNP FASTKD5 NM_021826 human genbank 54_36p -1 validated missense c.2285 p.S762Y 1.000 NULL HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors MYOM1 8736 genome.wustl.edu 36 18 3092625 3092625 + Missense_Mutation SNP G G A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 18 3092625 3092625 G A SNP MYOM1 NM_003803 human genbank 54_36p -1 reviewed missense c.3422 p.T1141I 1.000 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set - no_errors CSMD1 64478 genome.wustl.edu 36 8 3254465 3254465 + Silent SNP G G C novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 8 3254465 3254465 G C SNP CSMD1 NM_033225 human genbank 54_36p -1 validated silent c.1635 p.L545 0.853 HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CAMKK1 84254 genome.wustl.edu 36 17 3726409 3726409 + Missense_Mutation SNP C G G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 17 3726409 3726409 C G SNP CAMKK1 NM_172207 human genbank 54_36p -1 reviewed missense c.967 p.D323H 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors VISA 57506 genome.wustl.edu 36 20 3786323 3786323 + Silent SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 20 3786323 3786323 C T SNP VISA NM_020746 human genbank 54_36p +1 validated silent c.159 p.D53 0.570 NULL NULL - no_errors KIAA1543 57662 genome.wustl.edu 36 19 7588693 7588693 + Missense_Mutation SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 19 7588693 7588693 G T SNP KIAA1543 NM_001080429 human genbank 54_36p +1 validated missense c.3581 p.C1194F 1.000 superfamily_PRC-barrel domain,HMMPfam_DUF1781 superfamily_Calponin-homology domain CH-domain,superfamily_PRC-barrel domain,HMMPfam_DUF1781 - no_errors PTPRD 5789 genome.wustl.edu 36 9 8489677 8489677 + Missense_Mutation SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 9 8489677 8489677 C T SNP PTPRD NM_002839 human genbank 54_36p -1 reviewed missense c.2292 p.M764I 1.000 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors LOC729978 729978 genome.wustl.edu 36 16 11934987 11934987 + Missense_Mutation SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 16 11934987 11934987 G T SNP LOC729978 XM_001723016 human genbank 54_36p -1 model missense c.325 p.L109I 0.000 HMMPfam_NPIP HMMPfam_NPIP - no_errors SIN3B 23309 genome.wustl.edu 36 19 16841673 16841673 + Missense_Mutation SNP G G C novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 19 16841673 16841673 G C SNP SIN3B NM_015260 human genbank 54_36p +1 provisional missense c.2305 p.D769H 1.000 NULL superfamily_PAH2 domain,HMMPfam_PAH,HMMPfam_HDAC_interact,HMMSmart_SM00761 - no_errors SPAG6 9576 genome.wustl.edu 36 10 22716772 22716772 + Silent SNP A A T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 10 22716772 22716772 A T SNP SPAG6 NM_012443 human genbank 54_36p +1 reviewed silent c.693 p.S231 0.753 superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 - no_errors IL25 64806 genome.wustl.edu 36 14 22914716 22914716 + Silent SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 14 22914716 22914716 C T SNP IL25 NM_022789 human genbank 54_36p +1 reviewed silent c.321 p.H107 0.998 HMMPfam_IL17,superfamily_Cystine-knot cytokines HMMPfam_IL17,superfamily_Cystine-knot cytokines - no_errors KRAS 3845 genome.wustl.edu 36 12 25289552 25289552 + Missense_Mutation SNP C C G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 12 25289552 25289552 C G SNP KRAS NM_033360 human genbank 54_36p -1 reviewed missense c.34 p.G12R 1.000 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors SH2B1 25970 genome.wustl.edu 36 16 28788185 28788185 + Missense_Mutation SNP G G C novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 16 28788185 28788185 G C SNP SH2B1 NM_015503 human genbank 54_36p +1 reviewed missense c.1289 p.S430T 1.000 NULL HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 - no_errors KRTAP26-1 388818 genome.wustl.edu 36 21 30613725 30613725 + Missense_Mutation SNP C C G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 21 30613725 30613725 C G SNP KRTAP26-1 NM_203405 human genbank 54_36p -1 validated missense c.500 p.S167T 0.003 HMMPfam_PMG HMMPfam_PMG - no_errors HSPA1B 3304 genome.wustl.edu 36 6 31905613 31905613 + Missense_Mutation SNP C C A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 6 31905613 31905613 C A SNP HSPA1B NM_005346 human genbank 54_36p +1 reviewed missense c.1907 p.T636N 1.000 NULL superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain - no_errors CRKRS 51755 genome.wustl.edu 36 17 34935856 34935856 + Missense_Mutation SNP C G G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 17 34935856 34935856 C G SNP CRKRS NM_016507 human genbank 54_36p +1 validated missense c.3521 p.A1174G 0.990 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors DEF6 50619 genome.wustl.edu 36 6 35396986 35396986 + Missense_Mutation SNP C C A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 6 35396986 35396986 C A SNP DEF6 NM_022047 human genbank 54_36p +1 validated missense c.1717 p.P573T 0.006 NULL superfamily_SSF47473,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors DOPEY2 9980 genome.wustl.edu 36 21 36508694 36508694 + Missense_Mutation SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 21 36508694 36508694 C T SNP DOPEY2 NM_005128 human genbank 54_36p +1 validated missense c.1099 p.L367F 1.000 NULL HMMPfam_Dopey_N - no_errors INO80 54617 genome.wustl.edu 36 15 39129587 39129587 + Missense_Mutation SNP C C G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 15 39129587 39129587 C G SNP INO80 NM_017553 human genbank 54_36p -1 validated missense c.2280 p.E760D 1.000 HMMPfam_SNF2_N superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors LOC128192 128192 genome.wustl.edu 36 1 45226901 45226901 + Silent SNP A A G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 1 45226901 45226901 A G SNP LOC128192 XM_060887 human genbank 54_36p -1 model silent c.84 p.V28 0.999 superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 - no_errors DMXL2 23312 genome.wustl.edu 36 15 49616352 49616352 + Splice_Site SNP C C A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 15 49616352 49616352 C A SNP DMXL2 NM_015263 human genbank 54_36p -1 validated splice_site c.1618-1 e12-1 1.000 - - - no_errors OR5M1 390168 genome.wustl.edu 36 11 56137522 56137522 + Missense_Mutation SNP T T A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 11 56137522 56137522 T A SNP OR5M1 NM_001004740 human genbank 54_36p -1 provisional missense c.33 p.E11D 0.180 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors FLNB 2317 genome.wustl.edu 36 3 58091614 58091614 + Silent SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 3 58091614 58091614 C T SNP FLNB NM_001457 human genbank 54_36p +1 validated silent c.4329 p.F1443 1.000 superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN - no_errors LOC644456 0 genome.wustl.edu 36 2 58541607 58541607 + RNA SNP T T C novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 2 58541607 58541607 T C SNP LOC644456 XR_039438 human genbank 54_36p -1 model rna NULL NULL 0.006 - - - pseudogene CD226 10666 genome.wustl.edu 36 18 65714033 65714033 + Missense_Mutation SNP C A A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 18 65714033 65714033 C A SNP CD226 NM_006566 human genbank 54_36p -1 reviewed missense c.611 p.W204L 0.000 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGc2 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGc2 - no_errors LOC642236 642236 genome.wustl.edu 36 9 67944953 67944953 + RNA SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 9 67944953 67944953 C T SNP LOC642236 XR_041085 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors SLC10A1 6554 genome.wustl.edu 36 14 69322605 69322605 + Missense_Mutation SNP T T G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 14 69322605 69322605 T G SNP SLC10A1 NM_003049 human genbank 54_36p -1 validated missense c.529 p.K177Q 0.999 HMMPfam_SBF HMMPfam_SBF - no_errors ARR3 407 genome.wustl.edu 36 X 69417392 69417392 + Missense_Mutation SNP T T A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 X 69417392 69417392 T A SNP ARR3 NM_004312 human genbank 54_36p +1 validated missense c.1065 p.H355Q 0.007 superfamily_E set domains superfamily_E set domains,HMMPfam_Arrestin_N,PatternScan_ARRESTINS,HMMPfam_Arrestin_C - no_errors C6orf221 154288 genome.wustl.edu 36 6 74129549 74129549 + Silent SNP A A G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 6 74129549 74129549 A G SNP C6orf221 NM_001017361 human genbank 54_36p +1 validated silent c.180 p.G60 0.012 NULL NULL - no_errors CDKL2 8999 genome.wustl.edu 36 4 76751463 76751463 + Missense_Mutation SNP A A G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 4 76751463 76751463 A G SNP CDKL2 NM_003948 human genbank 54_36p -1 reviewed missense c.470 p.V157A 0.974 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 SYTL2 54843 genome.wustl.edu 36 11 85137080 85137080 + Silent SNP G G A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 11 85137080 85137080 G A SNP SYTL2 NM_032943 human genbank 54_36p -1 reviewed silent c.136 p.L46 1.000 NULL superfamily_FYVE/PHD zinc finger,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors ENSG00000166013 0 genome.wustl.edu 36 11 89217876 89217876 + Missense_Mutation SNP A T T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 11 89217876 89217876 A T SNP ENSG00000166013 ENST00000359967 human ensembl 54_36p +1 known missense c.293 p.E98V 0.359 superfamily_RING/U-box,HMMPfam_zf-B_box,HMMSmart_SM00336 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_zf-B_box,HMMSmart_SM00336 - no_stop_codon SV2B 9899 genome.wustl.edu 36 15 89633849 89633849 + Silent SNP G G C novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 15 89633849 89633849 G C SNP SV2B NM_014848 human genbank 54_36p +1 validated silent c.1803 p.G601 0.992 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors LOC642784 642784 genome.wustl.edu 36 X 91255420 91255420 + RNA SNP G G A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 X 91255420 91255420 G A SNP LOC642784 XR_016262 human genbank 54_36p -1 model rna NULL NULL 0.715 - - - pseudogene KIF20B 9585 genome.wustl.edu 36 10 91501136 91501136 + Missense_Mutation SNP C G G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 10 91501136 91501136 C G SNP KIF20B NM_016195 human genbank 54_36p +1 validated missense c.4030 p.Q1344E 0.999 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors KIAA1409 57578 genome.wustl.edu 36 14 93114128 93114128 + Missense_Mutation SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 14 93114128 93114128 G T SNP KIAA1409 NM_020818 human genbank 54_36p +1 validated missense c.1868 p.C623F 1.000 NULL NULL - no_errors LOC642943 0 genome.wustl.edu 36 9 94688278 94688278 + RNA SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 9 94688278 94688278 G T SNP LOC642943 XR_039168 human genbank 54_36p +1 model rna NULL NULL 0.078 - - - pseudogene TMEM130 222865 genome.wustl.edu 36 7 98283762 98283762 + Silent SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 7 98283762 98283762 C T SNP TMEM130 NM_152913 human genbank 54_36p -1 validated silent c.1125 p.P375 0.928 NULL superfamily_PKD domain - no_errors VCAM1 7412 genome.wustl.edu 36 1 100962880 100962880 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 1 100962880 100962880 G A SNP VCAM1 NM_001078 human genbank 54_36p +1 reviewed nonsense c.774 p.W258* 1.000 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMSmart_SM00406 HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set,HMMPfam_ig,HMMSmart_SM00406 - no_errors DIO3 1735 genome.wustl.edu 36 14 101098076 101098076 + Missense_Mutation SNP A A C novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 14 101098076 101098076 A C SNP DIO3 NM_001362 human genbank 54_36p +1 reviewed missense c.412 p.N138H 1.000 HMMPfam_T4_deiodinase HMMPfam_T4_deiodinase - pseudogene FGF14 2259 genome.wustl.edu 36 13 101325631 101325631 + Silent SNP A T T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 13 101325631 101325631 A T SNP FGF14 NM_175929 human genbank 54_36p -1 reviewed silent c.225 p.G75 1.000 superfamily_Cytok_IL1_like,HMMSmart_FGF superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF - no_errors ENSG00000176857 0 genome.wustl.edu 36 5 108415055 108415055 + Missense_Mutation SNP C A A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 5 108415055 108415055 C A SNP ENSG00000176857 ENST00000314747 human ensembl 54_36p -1 known missense c.1003 p.D335Y 1.000 NULL HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,HMMPfam_Connexin43 - no_errors ATXN7L2 127002 genome.wustl.edu 36 1 109830675 109830675 + Missense_Mutation SNP C C G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 1 109830675 109830675 C G SNP ATXN7L2 NM_153340 human genbank 54_36p +1 validated missense c.218 p.P73R 1.000 NULL HMMPfam_SCA7 - no_errors TNC 3371 genome.wustl.edu 36 9 116886536 116886536 + Missense_Mutation SNP G G A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 9 116886536 116886536 G A SNP TNC NM_002160 human genbank 54_36p -1 validated missense c.1904 p.T635M 1.000 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF,HMMPfam_EGF_2,HMMPfam_EGF,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMSmart_FBG,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen_a/b/g_C - no_errors GATC 283459 genome.wustl.edu 36 12 119368865 119368865 + Missense_Mutation SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 12 119368865 119368865 C T SNP GATC NM_176818 human genbank 54_36p +1 provisional missense c.104 p.A35V 0.029 NULL HMMPfam_Glu-tRNAGln - no_errors USP53 54532 genome.wustl.edu 36 4 120408982 120408982 + Missense_Mutation SNP C C G novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 4 120408982 120408982 C G SNP USP53 NM_019050 human genbank 54_36p +1 validated missense c.1247 p.S416C 0.721 NULL superfamily_SSF54001,HMMPfam_UCH - no_errors WDR40C 340578 genome.wustl.edu 36 X 125126579 125126579 + Missense_Mutation SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 X 125126579 125126579 C T SNP WDR40C NM_001013628 human genbank 54_36p -1 provisional missense c.1010 p.R337H 0.998 superfamily_WD40_like PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors GSDMC 56169 genome.wustl.edu 36 8 130857583 130857583 + Silent SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 8 130857583 130857583 G T SNP GSDMC NM_031415 human genbank 54_36p -1 validated silent c.351 p.L117 0.000 HMMPfam_Gasdermin HMMPfam_Gasdermin - no_errors HTATSF1 27336 genome.wustl.edu 36 X 135421563 135421563 + Missense_Mutation SNP G G C novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 X 135421563 135421563 G C SNP HTATSF1 NM_014500 human genbank 54_36p +1 provisional missense c.1993 p.E665Q 0.341 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors PCDHGA10 56106 genome.wustl.edu 36 5 140774849 140774849 + Silent SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 5 140774849 140774849 G T SNP PCDHGA10 NM_018913 human genbank 54_36p +1 reviewed silent c.1923 p.A641 0.398 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors CLEC5A 23601 genome.wustl.edu 36 7 141290228 141290228 + Missense_Mutation SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 7 141290228 141290228 G T SNP CLEC5A NM_013252 human genbank 54_36p -1 reviewed missense c.145 p.Q49K 0.154 NULL superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C - no_errors NOTCH2NL 388677 genome.wustl.edu 36 1 143993053 143993053 + Missense_Mutation SNP G G A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 1 143993053 143993053 G A SNP NOTCH2NL NM_203458 human genbank 54_36p +1 validated missense c.626 p.C209Y 1.000 superfamily_EGF/Laminin,HMMSmart_SM00181 PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL - no_errors HLTF 6596 genome.wustl.edu 36 3 150285316 150285316 + Missense_Mutation SNP T T C novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 3 150285316 150285316 T C SNP HLTF NM_003071 human genbank 54_36p -1 reviewed missense c.71 p.N24S 0.952 NULL HMMPfam_HIRAN,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors FLG2 388698 genome.wustl.edu 36 1 150589942 150589942 + Missense_Mutation SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 1 150589942 150589942 G T SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.6944 p.S2315Y 0.009 NULL superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin - no_errors FLG2 388698 genome.wustl.edu 36 1 150592348 150592348 + Missense_Mutation SNP C C T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 1 150592348 150592348 C T SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.4538 p.G1513D 0.000 NULL PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473 - no_errors SMC4 10051 genome.wustl.edu 36 3 161603297 161603297 + Missense_Mutation SNP A A T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 3 161603297 161603297 A T SNP SMC4 NM_001002800 human genbank 54_36p +1 validated missense c.458 p.K153M 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_Prefoldin,superfamily_Smc hinge domain,HMMPfam_SMC_hinge - no_errors SCN7A 6332 genome.wustl.edu 36 2 167030287 167030287 + Missense_Mutation SNP T T A novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 2 167030287 167030287 T A SNP SCN7A NM_002976 human genbank 54_36p -1 validated missense c.872 p.E291V 0.999 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc - no_errors SLC7A14 57709 genome.wustl.edu 36 3 171680970 171680970 + Missense_Mutation SNP G G T novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 3 171680970 171680970 G T SNP SLC7A14 NM_020949 human genbank 54_36p -1 validated missense c.1795 p.L599I 1.000 NULL HMMPfam_AA_permease - no_errors TP53 7157 genome.wustl.edu 36 17 7518922 7518922 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 17 7518922 7518922 C - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.652 p.V218fs 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain (deletion:cds_exon[7518902,7519014]) no_errors SLC12A4 6560 genome.wustl.edu 36 16 66536515 66536533 + Frame_Shift_Del DEL TGGGTGGGCCAGGCATGTT TGGGTGGGCCAGGCATGTT - novel unknown TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 TGGGTGGGCCAGGCATGTT TGGGTGGGCCAGGCATGTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52323a79-e1f0-4c1e-b6bc-b40927d1e268 c33b4324-c07b-4c48-bb1a-ce6c286280f5 16 66536515 66536533 TGGGTGGGCCAGGCATGTT - DEL SLC12A4 NM_005072 human genbank 54_36p -1 validated frame_shift_del c.3142_3124 p.N1042fs 0.995:0.989:1.000:1.000:0.958:1.000:1.000:0.996:1.000:1.000:0.976:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1 (deletion:cds_exon[66536491,66536624]) no_errors