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 LOC729034 729034 genome.wustl.edu 36 17 177350 177350 + Missense_Mutation SNP G G C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 17 177350 177350 G C SNP LOC729034 XM_001129120 human genbank 54_36p +1 model missense c.1318 p.A440P 0.321 NULL NULL - no_start_codon:pseudogene:no_stop_codon COLEC12 81035 genome.wustl.edu 36 18 325101 325101 + Missense_Mutation SNP G T T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 18 325101 325101 G T SNP COLEC12 NM_130386 human genbank 54_36p -1 validated missense c.1457 p.P486Q 0.935 NULL HMMPfam_Collagen,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors GEMIN4 50628 genome.wustl.edu 36 17 597060 597060 + Missense_Mutation SNP G A A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 17 597060 597060 G A SNP GEMIN4 NM_015721 human genbank 54_36p -1 reviewed missense c.973 p.R325W 0.107 NULL NULL - no_errors NARFL 64428 genome.wustl.edu 36 16 720488 720488 + Missense_Mutation SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 16 720488 720488 G A SNP NARFL NM_022493 human genbank 54_36p -1 provisional missense c.1361 p.A454V 0.987 superfamily_Fe-only hydrogenase superfamily_Fe-only hydrogenase,HMMPfam_Fe_hyd_lg_C - no_errors TPO 7173 genome.wustl.edu 36 2 1486735 1486735 + Missense_Mutation SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 1486735 1486735 G A SNP TPO NM_000547 human genbank 54_36p +1 reviewed missense c.2395 p.E799K 1.000 superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181 superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase,PatternScan_PEROXIDASE_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors RGS12 6002 genome.wustl.edu 36 4 3386352 3386352 + Missense_Mutation SNP G G T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 4 3386352 3386352 G T SNP RGS12 NM_198229 human genbank 54_36p +1 reviewed missense c.2266 p.A756S 1.000 superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,superfamily_Ubiquitin-like,HMMPfam_RBD,HMMSmart_SM00455,HMMPfam_GoLoco,HMMSmart_SM00390 - no_errors ANKRD16 54522 genome.wustl.edu 36 10 5962324 5962324 + Missense_Mutation SNP G G C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 10 5962324 5962324 G C SNP ANKRD16 NM_001009941 human genbank 54_36p -1 validated missense c.871 p.Q291E 0.952 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors CHD5 26038 genome.wustl.edu 36 1 6092623 6092623 + Silent SNP C T T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 6092623 6092623 C T SNP CHD5 NM_015557 human genbank 54_36p -1 provisional silent c.5397 p.A1799 0.613 HMMPfam_CHDCT2 PatternScan_CHROMO_1,HMMPfam_CHDNT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,HMMSmart_RING,superfamily_Chromodomain-like,HMMSmart_CHROMO,superfamily_SSF52540,HMMPfam_Chromo,HMMSmart_DEXDc,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2 - no_errors PDE4A 5141 genome.wustl.edu 36 19 10432778 10432778 + Silent SNP C C A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 19 10432778 10432778 C A SNP PDE4A NM_006202 human genbank 54_36p +1 validated silent c.747 p.T249 0.976 superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors KCNF1 3754 genome.wustl.edu 36 2 10970880 10970880 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 10970880 10970880 C T SNP KCNF1 NM_002236 human genbank 54_36p +1 reviewed missense c.877 p.R293W 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_POZ domain,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors ZC3H7A 29066 genome.wustl.edu 36 16 11769802 11769802 + Missense_Mutation SNP C C G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 16 11769802 11769802 C G SNP ZC3H7A NM_014153 human genbank 54_36p -1 provisional missense c.1230 p.Q410H 0.998 NULL superfamily_TPR-like,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH,PatternScan_ZINC_FINGER_C2H2_1 - no_errors BCL2L14 79370 genome.wustl.edu 36 12 12134986 12134986 + Missense_Mutation SNP A A T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 12 12134986 12134986 A T SNP BCL2L14 NM_138722 human genbank 54_36p +1 reviewed missense c.614 p.E205V 0.993 superfamily_Bcl-2 inhibitors of programmed cell death superfamily_Bcl-2 inhibitors of programmed cell death,HMMPfam_Bcl-2 - no_errors CDRT1 374286 genome.wustl.edu 36 17 15451633 15451633 + Silent SNP A G G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 17 15451633 15451633 A G SNP CDRT1 NM_006382 human genbank 54_36p -1 provisional silent c.1212 p.N404 0.754 superfamily_WD40 repeat-like superfamily_F-box domain,HMMPfam_F-box,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors TRIM16 10626 genome.wustl.edu 36 17 15480181 15480181 + Missense_Mutation SNP G C C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 17 15480181 15480181 G C SNP TRIM16 NM_006470 human genbank 54_36p -1 reviewed missense c.743 p.A248G 1.000 NULL HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors ATPAF2 91647 genome.wustl.edu 36 17 17882970 17882970 + Missense_Mutation SNP C T T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 17 17882970 17882970 C T SNP ATPAF2 NM_145691 human genbank 54_36p -1 reviewed missense c.83 p.S28N 0.000 NULL HMMPfam_ATP12 - no_errors BTG3 10950 genome.wustl.edu 36 21 17888452 17888452 + Nonsense_Mutation SNP G A A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 21 17888452 17888452 G A SNP BTG3 NM_006806 human genbank 54_36p -1 reviewed nonsense c.589 p.R197* 0.999 NULL HMMSmart_SM00099,HMMPfam_BTG,PatternScan_BTG_1,PatternScan_BTG_2 - no_errors TPTE2 93492 genome.wustl.edu 36 13 18902655 18902655 + Missense_Mutation SNP T T A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 13 18902655 18902655 T A SNP TPTE2 NM_199254 human genbank 54_36p -1 validated missense c.1255 p.M419L 0.016 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 - no_errors SYT17 51760 genome.wustl.edu 36 16 19102350 19102350 + Splice_Site SNP G G T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 16 19102350 19102350 G T SNP SYT17 NM_016524 human genbank 54_36p +1 validated splice_site c.332-1 e5-1 1.000 - - - no_errors LOC100131046 0 genome.wustl.edu 36 16 20075871 20075871 + RNA SNP C A A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 16 20075871 20075871 C A SNP LOC100131046 XR_037711 human genbank 54_36p +1 model rna NULL NULL 0.956 - - - pseudogene GDF7 151449 genome.wustl.edu 36 2 20734562 20734562 + Missense_Mutation SNP C C A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 20734562 20734562 C A SNP GDF7 NM_182828 human genbank 54_36p +1 reviewed missense c.1249 p.P417T 1.000 superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204 HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1 - no_errors ZNF208 7757 genome.wustl.edu 36 19 21949366 21949366 + Missense_Mutation SNP C C G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 19 21949366 21949366 C G SNP ZNF208 NM_007153 human genbank 54_36p -1 provisional missense c.310 p.E104Q 0.007 NULL 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 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TNFRSF10A 8797 genome.wustl.edu 36 8 23115325 23115325 + Missense_Mutation SNP G G C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 8 23115325 23115325 G C SNP TNFRSF10A NM_003844 human genbank 54_36p -1 reviewed missense c.570 p.C190W 0.597 superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1,HMMPfam_TNFR_c6,HMMSmart_SM00208 superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death - no_errors MYO18B 84700 genome.wustl.edu 36 22 24621146 24621146 + Missense_Mutation SNP G A A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 22 24621146 24621146 G A SNP MYO18B NM_032608 human genbank 54_36p +1 reviewed missense c.4567 p.D1523N 0.969 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ - no_errors DNMT3A 1788 genome.wustl.edu 36 2 25359036 25359036 + Missense_Mutation SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 25359036 25359036 G A SNP DNMT3A NM_022552 human genbank 54_36p -1 reviewed missense c.226 p.P76S 0.957 NULL superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_1 - no_errors MAN1C1 57134 genome.wustl.edu 36 1 25952561 25952561 + Splice_Site SNP G T T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 25952561 25952561 G T SNP MAN1C1 NM_020379 human genbank 54_36p +1 validated splice_site c.835-1 e5-1 1.000 - - - no_errors PLB1 151056 genome.wustl.edu 36 2 28675079 28675079 + Missense_Mutation SNP G G C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 28675079 28675079 G C SNP PLB1 NM_153021 human genbank 54_36p +1 validated missense c.2422 p.A808P 0.002 superfamily_SGNH hydrolase,HMMPfam_Lipase_GDSL superfamily_SGNH hydrolase,PatternScan_LIPASE_GDSL_SER,HMMPfam_Lipase_GDSL - no_errors PLAGL2 5326 genome.wustl.edu 36 20 30248047 30248047 + Nonsense_Mutation SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 20 30248047 30248047 G A SNP PLAGL2 NM_002657 human genbank 54_36p -1 reviewed nonsense c.1360 p.Q454* 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SETD1A 9739 genome.wustl.edu 36 16 30890359 30890359 + Missense_Mutation SNP A A G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 16 30890359 30890359 A G SNP SETD1A NM_014712 human genbank 54_36p +1 provisional missense c.3176 p.E1059G 0.925 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET - no_errors PUM1 9698 genome.wustl.edu 36 1 31304699 31304699 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 31304699 31304699 C T SNP PUM1 NM_001020658 human genbank 54_36p -1 reviewed missense c.302 p.G101D 1.000 NULL superfamily_ARM repeat,HMMPfam_PUF,HMMSmart_SM00025 - no_errors NRP1 8829 genome.wustl.edu 36 10 33531645 33531645 + Missense_Mutation SNP A A G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 10 33531645 33531645 A G SNP NRP1 ENST00000374818 human ensembl 54_36p -1 known missense c.2044 p.F682L 0.001 NULL superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_Gal_bind_like,HMMSmart_FA58C,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors ERBB2 2064 genome.wustl.edu 36 17 35121734 35121734 + Missense_Mutation SNP C T T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 17 35121734 35121734 C T SNP ERBB2 NM_004448 human genbank 54_36p +1 reviewed missense c.929 p.S310F 0.999 superfamily_Growth factor receptor domain,HMMPfam_Furin-like superfamily_L domain-like,HMMPfam_Recep_L_domain,superfamily_Growth factor receptor domain,HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_EF_HAND_1,HMMPfam_YLP - no_errors EZH1 2145 genome.wustl.edu 36 17 38111666 38111666 + Missense_Mutation SNP T G G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 17 38111666 38111666 T G SNP EZH1 NM_001991 human genbank 54_36p -1 validated missense c.1724 p.Y575S 1.000 superfamily_SET domain HMMSmart_SM00717,PatternScan_AP_NUCLEASE_F2_1,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317 - no_errors ENSG00000221435 0 genome.wustl.edu 36 19 40565041 40565041 + RNA SNP A T T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 19 40565041 40565041 A T SNP ENSG00000221435 ENST00000408508 human ensembl 54_36p +1 novel rna NULL NULL 1.000 - - - no_errors TREML3 340206 genome.wustl.edu 36 6 41293601 41293601 + Silent SNP G G T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 6 41293601 41293601 G T SNP TREML3 ENST00000332842 human ensembl 54_36p -1 known silent c.63 p.S21 0.000 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_start_codon IKBKB 3551 genome.wustl.edu 36 8 42291059 42291059 + Missense_Mutation SNP C T T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 8 42291059 42291059 C T SNP IKBKB NM_001556 human genbank 54_36p +1 validated missense c.755 p.T252M 0.945 superfamily_Kinase_like PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_ubiquitin - no_errors SIK1 150094 genome.wustl.edu 36 21 43661210 43661210 + Missense_Mutation SNP T A A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 21 43661210 43661210 T A SNP SIK1 NM_173354 human genbank 54_36p -1 validated missense c.2192 p.H731L 1.000 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_UBA - no_errors JMJD2A 9682 genome.wustl.edu 36 1 43907477 43907477 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 43907477 43907477 C T SNP JMJD2A NM_014663 human genbank 54_36p +1 reviewed missense c.1283 p.T428M 0.990 NULL HMMSmart_SM00545,HMMPfam_JmjN,HMMSmart_SM00558,HMMPfam_JmjC,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT - no_errors POMGNT1 55624 genome.wustl.edu 36 1 46432628 46432628 + Missense_Mutation SNP T T G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 46432628 46432628 T G SNP POMGNT1 NM_017739 human genbank 54_36p -1 reviewed missense c.784 p.N262H 1.000 NULL superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_GNT-I - no_errors CACNA1F 778 genome.wustl.edu 36 X 48953042 48953042 + Silent SNP G A A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 X 48953042 48953042 G A SNP CACNA1F NM_005183 human genbank 54_36p -1 reviewed silent c.4845 p.S1615 0.996 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors ALDH16A1 126133 genome.wustl.edu 36 19 54663984 54663984 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 19 54663984 54663984 C T SNP ALDH16A1 NM_153329 human genbank 54_36p +1 validated missense c.2176 p.R726W 0.985 superfamily_ALDH-like,HMMPfam_Aldedh superfamily_ALDH-like,HMMPfam_Aldedh - no_errors OBFC2B 79035 genome.wustl.edu 36 12 54906418 54906418 + Silent SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 12 54906418 54906418 C T SNP OBFC2B NM_024068 human genbank 54_36p +1 validated silent c.384 p.D128 1.000 NULL superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_anti - no_errors RAX 30062 genome.wustl.edu 36 18 55090632 55090632 + Missense_Mutation SNP C G G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 18 55090632 55090632 C G SNP RAX NM_013435 human genbank 54_36p -1 validated missense c.484 p.D162H 1.000 superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR - no_errors LOC341689 341689 genome.wustl.edu 36 13 58001057 58001057 + RNA SNP A A G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 13 58001057 58001057 A G SNP LOC341689 XR_017487 human genbank 54_36p +1 model rna NULL NULL 0.515 - - - no_errors LOC653753 0 genome.wustl.edu 36 19 58511065 58511065 + RNA SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 19 58511065 58511065 G A SNP LOC653753 XR_039415 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene OR4D6 219983 genome.wustl.edu 36 11 58981331 58981331 + Missense_Mutation SNP G G T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 11 58981331 58981331 G T SNP OR4D6 NM_001004708 human genbank 54_36p +1 provisional missense c.322 p.G108C 0.001 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZP1 22917 genome.wustl.edu 36 11 60393659 60393659 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 11 60393659 60393659 C T SNP ZP1 NM_207341 human genbank 54_36p +1 validated missense c.392 p.A131V 0.000 NULL superfamily_P_trefoil,PatternScan_P_TREFOIL,HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1 - no_errors ANK3 288 genome.wustl.edu 36 10 61637947 61637947 + Silent SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 10 61637947 61637947 G A SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed silent c.1047 p.C349 0.994 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors SAPS3 55291 genome.wustl.edu 36 11 68127582 68127582 + Missense_Mutation SNP G G T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 11 68127582 68127582 G T SNP SAPS3 ENST00000393801 human ensembl 54_36p +1 known missense c.2462 p.G821V 0.377 NULL HMMPfam_SAPS - no_errors PMCHL2 5370 genome.wustl.edu 36 5 70707458 70707458 + Missense_Mutation SNP A C C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 5 70707458 70707458 A C SNP PMCHL2 ENST00000306564 human ensembl 54_36p +1 known missense c.70 p.K24Q 0.928 HMMPfam_Pro-MCH HMMPfam_Pro-MCH - no_errors TJP2 9414 genome.wustl.edu 36 9 71030774 71030774 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 9 71030774 71030774 C T SNP TJP2 NM_004817 human genbank 54_36p +1 validated missense c.1073 p.T358I 1.000 superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMPfam_SH3_2,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Guanylate_kin - no_errors ENAM 10117 genome.wustl.edu 36 4 71727841 71727841 + Missense_Mutation SNP T A A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 4 71727841 71727841 T A SNP ENAM NM_031889 human genbank 54_36p +1 validated missense c.1834 p.S612T 0.000 NULL NULL - no_errors TRPA1 8989 genome.wustl.edu 36 8 73127396 73127396 + Missense_Mutation SNP C C G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 8 73127396 73127396 C G SNP TRPA1 NM_007332 human genbank 54_36p -1 reviewed missense c.1803 p.R601S 0.708 superfamily_Ankyrin repeat,HMMSmart_SM00248 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_EF_HAND_1,HMMPfam_Ion_trans - no_errors CSPG4 1464 genome.wustl.edu 36 15 73762350 73762350 + Missense_Mutation SNP T T A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 15 73762350 73762350 T A SNP CSPG4 NM_001897 human genbank 54_36p -1 reviewed missense c.4537 p.I1513F 0.331 NULL superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ATPASE_ALPHA_BETA - no_errors XRRA1 143570 genome.wustl.edu 36 11 74310002 74310002 + Silent SNP G C C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 11 74310002 74310002 G C SNP XRRA1 NM_182969 human genbank 54_36p -1 validated silent c.537 p.A179 1.000 superfamily_L domain-like superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors C17orf56 146705 genome.wustl.edu 36 17 76819835 76819835 + Silent SNP C A A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 17 76819835 76819835 C A SNP C17orf56 NM_144679 human genbank 54_36p -1 predicted silent c.852 p.L284 1.000 NULL superfamily_ENTH/VHS domain - no_errors FAM46A 55603 genome.wustl.edu 36 6 82516885 82516885 + Missense_Mutation SNP A A C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 6 82516885 82516885 A C SNP FAM46A NM_017633 human genbank 54_36p -1 validated missense c.575 p.V192G 1.000 HMMPfam_DUF1693 HMMPfam_DUF1693 - no_errors PROS1 5627 genome.wustl.edu 36 3 95086316 95086316 + Missense_Mutation SNP C C G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 3 95086316 95086316 C G SNP PROS1 NM_000313 human genbank 54_36p -1 reviewed missense c.1438 p.E480Q 1.000 superfamily_ConA_like_lec_gl HMMSmart_GLA,superfamily_VitK_dep_GLA,HMMPfam_Gla,PatternScan_GLA_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_EGF_CA,HMMPfam_EGF_CA,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors CPN1 1369 genome.wustl.edu 36 10 101825735 101825735 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 10 101825735 101825735 C T SNP CPN1 NM_001308 human genbank 54_36p -1 reviewed missense c.343 p.V115I 0.096 superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14 superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2,superfamily_Carboxypeptidase regulatory domain - no_errors CASP1 834 genome.wustl.edu 36 11 104410292 104410292 + Missense_Mutation SNP C C G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 11 104410292 104410292 C G SNP CASP1 NM_033292 human genbank 54_36p -1 reviewed missense c.127 p.V43L 0.000 HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,PatternScan_AMP_BINDING,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS - no_errors COL17A1 1308 genome.wustl.edu 36 10 105830418 105830418 + Missense_Mutation SNP C C A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 10 105830418 105830418 C A SNP COL17A1 NM_000494 human genbank 54_36p -1 reviewed missense c.4 p.D2Y 1.000 NULL HMMPfam_Collagen - no_errors CD8BP 0 genome.wustl.edu 36 2 106487182 106487182 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 106487182 106487182 C T SNP CD8BP ENST00000303432 human ensembl 54_36p +1 known missense c.592 p.R198W 0.847 NULL superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG - no_errors RPH3A 22895 genome.wustl.edu 36 12 111798943 111798943 + Missense_Mutation SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 12 111798943 111798943 G A SNP RPH3A NM_014954 human genbank 54_36p +1 validated missense c.1048 p.G350R 0.153 NULL HMMPfam_RPH3A_effector,superfamily_FYVE_PHD_ZnF,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors DNAJC25-GNG10 0 genome.wustl.edu 36 9 113433783 113433783 + Missense_Mutation SNP G G C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 9 113433783 113433783 G C SNP DNAJC25-GNG10 NM_004125 human genbank 54_36p +1 validated missense c.275 p.R92P 0.990 superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,HMMSmart_GGL,HMMPfam_G-gamma - no_errors CCDC80 151887 genome.wustl.edu 36 3 113841332 113841332 + Missense_Mutation SNP T T A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 3 113841332 113841332 T A SNP CCDC80 NM_199511 human genbank 54_36p -1 validated missense c.111 p.K37N 0.006 NULL NULL - no_errors ZFP37 7539 genome.wustl.edu 36 9 114844923 114844923 + Missense_Mutation SNP T T A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 9 114844923 114844923 T A SNP ZFP37 NM_003408 human genbank 54_36p -1 provisional missense c.1796 p.K599I 0.998 superfamily_SSF57667 HMMSmart_KRAB,HMMPfam_KRAB,superfamily_Krueppel-associated_box,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ORM2 5005 genome.wustl.edu 36 9 116132570 116132570 + Silent SNP T T C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 9 116132570 116132570 T C SNP ORM2 NM_000608 human genbank 54_36p +1 reviewed silent c.150 p.F50 0.000 superfamily_Lipocalins,HMMPfam_Lipocalin superfamily_Lipocalins,HMMPfam_Lipocalin - no_errors TECTA 7007 genome.wustl.edu 36 11 120505971 120505971 + Missense_Mutation SNP G G T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 11 120505971 120505971 G T SNP TECTA NM_005422 human genbank 54_36p +1 reviewed missense c.2782 p.G928W 0.206 HMMPfam_C8 HMMSmart_SM00539,HMMPfam_NIDO,HMMSmart_SM00215,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_FA58C_2,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1,superfamily_EGF/Laminin - no_errors LHX2 9355 genome.wustl.edu 36 9 125817399 125817399 + Missense_Mutation SNP G G C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 9 125817399 125817399 G C SNP LHX2 NM_004789 human genbank 54_36p +1 reviewed missense c.501 p.L167F 1.000 HMMSmart_LIM,HMMPfam_LIM superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128750985 128750985 + Silent SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 12 128750985 128750985 G A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated silent c.291 p.Y97 1.000 NULL NULL - no_errors FREQ 23413 genome.wustl.edu 36 9 132024756 132024756 + Missense_Mutation SNP T T G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 9 132024756 132024756 T G SNP FREQ NM_014286 human genbank 54_36p +1 reviewed missense c.314 p.F105C 1.000 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors FAM78A 286336 genome.wustl.edu 36 9 133126260 133126260 + Missense_Mutation SNP T T C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 9 133126260 133126260 T C SNP FAM78A NM_033387 human genbank 54_36p -1 validated missense c.622 p.T208A 1.000 NULL NULL - no_errors DDX31 64794 genome.wustl.edu 36 9 134535363 134535363 + Missense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 9 134535363 134535363 C T SNP DDX31 NM_022779 human genbank 54_36p -1 reviewed missense c.95 p.R32K 0.001 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors ARHGEF5 7984 genome.wustl.edu 36 7 143691427 143691427 + Silent SNP A A G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 7 143691427 143691427 A G SNP ARHGEF5 NM_005435 human genbank 54_36p +1 reviewed silent c.732 p.G244 0.002 NULL superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2 - no_errors PLXNB3 5365 genome.wustl.edu 36 X 152686981 152686981 + Silent SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 X 152686981 152686981 G A SNP PLXNB3 NM_005393 human genbank 54_36p +1 provisional silent c.1170 p.L390 0.018 superfamily_Sema,HMMSmart_Sema superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_Ig_E-set,HMMSmart_IPT,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP - no_errors LOC284685 284685 genome.wustl.edu 36 1 164513386 164513386 + RNA SNP G G T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 164513386 164513386 G T SNP LOC284685 XR_017685 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene XPR1 9213 genome.wustl.edu 36 1 179060573 179060573 + Silent SNP C C G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 179060573 179060573 C G SNP XPR1 NM_004736 human genbank 54_36p +1 validated silent c.825 p.G275 1.000 HMMPfam_EXS HMMPfam_SPX,HMMPfam_EXS - no_errors TTN 7273 genome.wustl.edu 36 2 179350207 179350207 + Missense_Mutation SNP T T G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 179350207 179350207 T G SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.4728 p.K1576N 1.000 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors USP13 8975 genome.wustl.edu 36 3 180952845 180952845 + Silent SNP C C G novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 3 180952845 180952845 C G SNP USP13 NM_003940 human genbank 54_36p +1 validated silent c.1788 p.P596 0.979 superfamily_SSF54001,HMMPfam_UCH HMMSmart_ZnF_UBP,HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,HMMPfam_UBA,HMMSmart_UBA,superfamily_UBA_like,PatternScan_UCH_2_2 - no_errors PLEKHA6 22874 genome.wustl.edu 36 1 202466204 202466204 + Missense_Mutation SNP C C A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 202466204 202466204 C A SNP PLEKHA6 NM_014935 human genbank 54_36p -1 validated missense c.2543 p.S848I 0.986 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors YOD1 55432 genome.wustl.edu 36 1 205290834 205290834 + Missense_Mutation SNP G G C novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 205290834 205290834 G C SNP YOD1 NM_018566 human genbank 54_36p -1 validated missense c.165 p.D55E 0.921 superfamily_Ubiquitin-like superfamily_Ubiquitin-like,superfamily_Cysteine proteinases,HMMPfam_OTU,PatternScan_ZINC_FINGER_C2H2_1 - no_errors IRS1 3667 genome.wustl.edu 36 2 227370859 227370859 + Silent SNP G G A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 227370859 227370859 G A SNP IRS1 NM_005544 human genbank 54_36p -1 validated silent c.840 p.I280 1.000 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI - no_errors SPHKAP 80309 genome.wustl.edu 36 2 228592544 228592544 + Missense_Mutation SNP C C A novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 2 228592544 228592544 C A SNP SPHKAP NM_030623 human genbank 54_36p -1 validated missense c.1270 p.V424L 0.010 NULL HMMPfam_AKAP_110 - no_errors ERO1LB 56605 genome.wustl.edu 36 1 234456416 234456416 + Nonsense_Mutation SNP C C T novel unknown TCGA-36-2530-01A-01D-1526-09 TCGA-36-2530-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 990deb59-4f7f-422d-b470-b116edd32d33 4e3f49a5-cb83-4014-8840-ce71b8427e09 1 234456416 234456416 C T SNP ERO1LB NM_019891 human genbank 54_36p -1 provisional nonsense c.828 p.W276* 1.000 superfamily_ERO1,HMMPfam_ERO1 superfamily_ERO1,HMMPfam_ERO1 - no_errors