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-ND4 4538 genome.wustl.edu 36 MT 12073 12073 + Missense_Mutation SNP T T C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 MT 12073 12073 T C SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.1313 p.F438S NULL NULL HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region MT-ND6 4541 genome.wustl.edu 36 MT 14601 14601 + Missense_Mutation SNP G A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 MT 14601 14601 G A SNP MT-ND6 ENST00000361681 human ensembl 54_36p -1 known missense c.74 p.P25L NULL HMMPfam_Oxidored_q3 HMMPfam_Oxidored_q3 - no_stop_codon DMRT3 58524 genome.wustl.edu 36 9 980520 980520 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 9 980520 980520 C T SNP DMRT3 NM_021240 human genbank 54_36p +1 validated missense c.934 p.H312Y 1.000 NULL superfamily_DM_DNA_bd,HMMPfam_DM,HMMSmart_DM,PatternScan_DM_1,HMMPfam_DMA - no_errors CLPTM1L 81037 genome.wustl.edu 36 5 1388172 1388172 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 5 1388172 1388172 C T SNP CLPTM1L NM_030782 human genbank 54_36p -1 provisional missense c.796 p.G266R 1.000 HMMPfam_CLPTM1 HMMPfam_CLPTM1 - no_errors OR56A4 120793 genome.wustl.edu 36 11 5980433 5980433 + Silent SNP G C C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 5980433 5980433 G C SNP OR56A4 NM_001005179 human genbank 54_36p -1 provisional silent c.522 p.A174 0.898 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7519095 7519095 + Splice_Site SNP C A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 17 7519095 7519095 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.559+1 e4+1 0.998 - - - no_errors CNTROB 116840 genome.wustl.edu 36 17 7777276 7777276 + Missense_Mutation SNP G A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 17 7777276 7777276 G A SNP CNTROB NM_001037144 human genbank 54_36p +1 validated missense c.154 p.A52T 0.994 NULL NULL - no_errors PNPLA4 8228 genome.wustl.edu 36 X 7828839 7828839 + Missense_Mutation SNP A T T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 X 7828839 7828839 A T SNP PNPLA4 NM_004650 human genbank 54_36p -1 validated missense c.650 p.V217E 1.000 NULL superfamily_FabD/lysophospholipase-like,HMMPfam_Patatin - no_errors PLOD1 5351 genome.wustl.edu 36 1 11955639 11955639 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 11955639 11955639 G C SNP PLOD1 NM_000302 human genbank 54_36p +1 reviewed missense c.2026 p.E676Q 1.000 HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy,PatternScan_LYS_HYDROXYLASE - no_errors CYP4F8 11283 genome.wustl.edu 36 19 15595012 15595012 + Missense_Mutation SNP C C A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 19 15595012 15595012 C A SNP CYP4F8 ENST00000325723 human ensembl 54_36p +1 known missense c.742 p.L248I 0.977 superfamily_Cytochrome P450,HMMPfam_p450 superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 - no_errors MYH11 4629 genome.wustl.edu 36 16 15757717 15757717 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 16 15757717 15757717 G A SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed silent c.1752 p.I584 0.973 superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors TMEM38A 79041 genome.wustl.edu 36 19 16660174 16660174 + Missense_Mutation SNP G G T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 19 16660174 16660174 G T SNP TMEM38A NM_024074 human genbank 54_36p +1 provisional missense c.892 p.A298S 1.000 NULL HMMPfam_DUF714 - no_errors NELL1 4745 genome.wustl.edu 36 11 20897433 20897433 + Missense_Mutation SNP C C A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 20897433 20897433 C A SNP NELL1 NM_006157 human genbank 54_36p +1 reviewed missense c.736 p.L246I 1.000 NULL HMMSmart_SM00210,HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_VWC,HMMSmart_SM00214,HMMSmart_SM00215,PatternScan_VWFC_1,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF_2,PatternScan_EGF_1 - no_errors MKRN3 7681 genome.wustl.edu 36 15 21362167 21362167 + Missense_Mutation SNP C A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 15 21362167 21362167 C A SNP MKRN3 NM_005664 human genbank 54_36p +1 reviewed missense c.145 p.P49T 0.000 NULL HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors BCR 613 genome.wustl.edu 36 22 21853956 21853956 + Missense_Mutation SNP C C G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 22 21853956 21853956 C G SNP BCR NM_004327 human genbank 54_36p +1 reviewed missense c.809 p.P270R 0.979 NULL superfamily_Bcr-Abl oncoprotein oligomerization domain,HMMPfam_Bcr-Abl_Oligo,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors SMS 6611 genome.wustl.edu 36 X 21868809 21868809 + Silent SNP C A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 X 21868809 21868809 C A SNP SMS ENST00000265782 human ensembl 54_36p +1 known silent c.51 p.G17 0.903 NULL HMMPfam_Spermine_synth,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_SPERMIDINE_SYNTHASE_1 - no_start_codon ABCC9 10060 genome.wustl.edu 36 12 21903836 21903836 + Missense_Mutation SNP C C A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 12 21903836 21903836 C A SNP ABCC9 NM_005691 human genbank 54_36p -1 reviewed missense c.2456 p.R819I 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors ANO5 203859 genome.wustl.edu 36 11 22217724 22217724 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 22217724 22217724 C T SNP ANO5 NM_213599 human genbank 54_36p +1 validated missense c.796 p.P266S 0.460 NULL HMMPfam_DUF590 - no_errors PRMT5 10419 genome.wustl.edu 36 14 22465300 22465300 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 14 22465300 22465300 C T SNP PRMT5 NM_006109 human genbank 54_36p -1 validated missense c.659 p.R220H 1.000 HMMPfam_PRMT5 HMMPfam_PRMT5,superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors SUSD2 56241 genome.wustl.edu 36 22 22913262 22913262 + Missense_Mutation SNP A A G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 22 22913262 22913262 A G SNP SUSD2 NM_019601 human genbank 54_36p +1 validated missense c.1735 p.S579G 0.956 HMMSmart_VWD,HMMPfam_VWD HMMSmart_SO,HMMPfam_Somatomedin_B,superfamily_SSF90188,PatternScan_SMB_1,HMMSmart_AMOP,HMMPfam_AMOP,HMMSmart_VWD,HMMPfam_VWD,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors HIST1H3D 8351 genome.wustl.edu 36 6 26305284 26305284 + Silent SNP C C G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 6 26305284 26305284 C G SNP HIST1H3D NM_003530 human genbank 54_36p -1 reviewed silent c.174 p.S58 1.000 superfamily_Histone-fold,HMMSmart_SM00428,HMMPfam_Histone superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2 - no_errors C2orf53 339779 genome.wustl.edu 36 2 27213539 27213539 + Missense_Mutation SNP G G T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 2 27213539 27213539 G T SNP C2orf53 NM_178553 human genbank 54_36p -1 validated missense c.1163 p.S388Y 0.001 NULL NULL - no_errors GPR3 2827 genome.wustl.edu 36 1 27593522 27593522 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 27593522 27593522 G C SNP GPR3 NM_005281 human genbank 54_36p +1 provisional missense c.633 p.Q211H 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR10C1 442194 genome.wustl.edu 36 6 29516261 29516261 + Missense_Mutation SNP T T C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 6 29516261 29516261 T C SNP OR10C1 NM_013941 human genbank 54_36p +1 provisional missense c.490 p.S164P 0.007 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ITGAX 3687 genome.wustl.edu 36 16 31295720 31295720 + Missense_Mutation SNP T T A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 16 31295720 31295720 T A SNP ITGAX NM_000887 human genbank 54_36p +1 reviewed missense c.2608 p.F870I 1.000 HMMPfam_Integrin_alpha2,superfamily_SSF69179 superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors CSNK2B 1460 genome.wustl.edu 36 6 31745121 31745121 + Silent SNP C C G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 6 31745121 31745121 C G SNP CSNK2B NM_001320 human genbank 54_36p +1 reviewed silent c.414 p.P138 1.000 superfamily_Casein kinase II beta subunit,HMMPfam_CK_II_beta,PatternScan_CK2_BETA superfamily_Casein kinase II beta subunit,HMMPfam_CK_II_beta,PatternScan_CK2_BETA - no_errors C4B 721 genome.wustl.edu 36 6 32071506 32071506 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 6 32071506 32071506 G A SNP C4B NM_001002029 human genbank 54_36p +1 reviewed silent c.3186 p.A1062 0.154 superfamily_Terp_cyc_toroid,HMMPfam_A2M_comp HMMPfam_A2M_N,HMMPfam_A2M_N_2,superfamily_Anaphylatoxin,HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,superfamily_Terp_cyc_toroid,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_AM_receptor_bind,HMMPfam_A2M_recep,HMMSmart_C345C,HMMPfam_NTR - no_errors ARHGAP12 94134 genome.wustl.edu 36 10 32237765 32237765 + Missense_Mutation SNP T T G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 10 32237765 32237765 T G SNP ARHGAP12 NM_018287 human genbank 54_36p -1 provisional missense c.25 p.K9Q 0.994 NULL superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors PBX2 5089 genome.wustl.edu 36 6 32264079 32264079 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 6 32264079 32264079 G C SNP PBX2 NM_002586 human genbank 54_36p -1 reviewed missense c.476 p.S159W 0.999 HMMPfam_PBC HMMPfam_PBC,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors ASIP 434 genome.wustl.edu 36 20 32320622 32320622 + Missense_Mutation SNP C C G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 20 32320622 32320622 C G SNP ASIP NM_001672 human genbank 54_36p +1 reviewed missense c.387 p.S129R 0.002 superfamily_Agouti,PatternScan_AGOUTI_1 HMMPfam_Agouti,HMMSmart_Agouti,superfamily_Agouti,PatternScan_AGOUTI_1 - no_errors LHX1 3975 genome.wustl.edu 36 17 32374403 32374403 + Silent SNP G T T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 17 32374403 32374403 G T SNP LHX1 NM_005568 human genbank 54_36p +1 reviewed silent c.1083 p.L361 0.977 NULL superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors ZBTB22 9278 genome.wustl.edu 36 6 33390965 33390965 + Silent SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 6 33390965 33390965 C T SNP ZBTB22 NM_005453 human genbank 54_36p -1 validated silent c.1707 p.L569 1.000 superfamily_C2H2 and C2HC zinc fingers superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SLC1A2 6506 genome.wustl.edu 36 11 35284237 35284237 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 35284237 35284237 G C SNP SLC1A2 NM_004171 human genbank 54_36p -1 reviewed missense c.690 p.I230M 1.000 HMMPfam_SDF HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2 - no_errors C5orf42 65250 genome.wustl.edu 36 5 37215926 37215926 + Missense_Mutation SNP A A G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 5 37215926 37215926 A G SNP C5orf42 NM_023073 human genbank 54_36p -1 predicted missense c.2327 p.V776A 0.001 NULL NULL - no_errors ZNF703 80139 genome.wustl.edu 36 8 37672806 37672806 + Silent SNP A A C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 8 37672806 37672806 A C SNP ZNF703 NM_025069 human genbank 54_36p +1 provisional silent c.151 p.R51 1.000 NULL NULL - no_errors SCN11A 11280 genome.wustl.edu 36 3 38901842 38901842 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 3 38901842 38901842 C T SNP SCN11A NM_014139 human genbank 54_36p -1 validated missense c.3005 p.G1002D 0.000 HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc - no_errors PLEKHM1 9842 genome.wustl.edu 36 17 40872668 40872668 + Missense_Mutation SNP T A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 17 40872668 40872668 T A SNP PLEKHM1 NM_014798 human genbank 54_36p -1 provisional missense c.3017 p.H1006L 0.909 HMMSmart_C1 PatternScan_ZF_DAG_PE_1,HMMPfam_RUN,HMMSmart_RUN,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_C1 - no_errors FANCM 57697 genome.wustl.edu 36 14 44715485 44715485 + Missense_Mutation SNP T T C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 14 44715485 44715485 T C SNP FANCM NM_020937 human genbank 54_36p +1 reviewed missense c.3778 p.Y1260H 0.031 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Restriction endonuclease-like,HMMPfam_ERCC4,superfamily_RuvA domain 2-like - no_errors LOC340970 340970 genome.wustl.edu 36 11 48964219 48964219 + RNA SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 48964219 48964219 C T SNP LOC340970 XR_042351 human genbank 54_36p -1 model rna NULL NULL 0.001 - - - pseudogene KCNRG 283518 genome.wustl.edu 36 13 49488108 49488108 + Nonsense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 13 49488108 49488108 C T SNP KCNRG NM_173605 human genbank 54_36p +1 validated nonsense c.478 p.Q160* 0.843 NULL superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra - no_errors ACR 49 genome.wustl.edu 36 22 49530180 49530180 + Silent SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 22 49530180 49530180 C T SNP ACR NM_001097 human genbank 54_36p +1 reviewed silent c.945 p.P315 0.014 NULL superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors OR4A5 81318 genome.wustl.edu 36 11 51268273 51268273 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 51268273 51268273 G A SNP OR4A5 NM_001005272 human genbank 54_36p -1 provisional silent c.699 p.A233 0.978 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,PatternScan_LECTIN_LEGUME_ALPHA,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ESPL1 9700 genome.wustl.edu 36 12 51957598 51957598 + Missense_Mutation SNP T T G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 12 51957598 51957598 T G SNP ESPL1 NM_012291 human genbank 54_36p +1 validated missense c.2163 p.D721E 0.993 NULL HMMPfam_Peptidase_C50 - no_errors OR6C2 341416 genome.wustl.edu 36 12 54133110 54133110 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 12 54133110 54133110 G A SNP OR6C2 NM_054105 human genbank 54_36p +1 provisional silent c.846 p.L282 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR4P1P 0 genome.wustl.edu 36 11 55207650 55207650 + Missense_Mutation SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 55207650 55207650 G A SNP OR4P1P ENST00000345013 human ensembl 54_36p +1 known missense c.88 p.E30K 0.007 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,superfamily_SSF81321 - no_errors LRP1 4035 genome.wustl.edu 36 12 55890214 55890214 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 12 55890214 55890214 C T SNP LRP1 NM_002332 human genbank 54_36p +1 validated missense c.12575 p.P4192L 0.638 superfamily_EGF/Laminin superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_1 - no_errors CHCHD2 51142 genome.wustl.edu 36 7 56141679 56141679 + Silent SNP T T C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 7 56141679 56141679 T C SNP CHCHD2 ENST00000395422 human ensembl 54_36p -1 known silent c.6 p.P2 0.000 NULL HMMPfam_CHCH - no_start_codon ARHGAP9 64333 genome.wustl.edu 36 12 56156453 56156453 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 12 56156453 56156453 G A SNP ARHGAP9 NM_032496 human genbank 54_36p -1 reviewed silent c.1077 p.F359 1.000 superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_WW_Rsp5_WWP,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP - no_errors SIGLEC9 27180 genome.wustl.edu 36 19 56322304 56322304 + Silent SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 19 56322304 56322304 C T SNP SIGLEC9 NM_014441 human genbank 54_36p +1 provisional silent c.954 p.F318 0.012 superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig - no_errors FLJ40235 284369 genome.wustl.edu 36 19 56462438 56462438 + Splice_Site SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 19 56462438 56462438 G C SNP FLJ40235 NM_173635 human genbank 54_36p +1 predicted splice_site c.411-1 e4-1 0.279 - - - no_errors DST 667 genome.wustl.edu 36 6 56612468 56612468 + Silent SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 6 56612468 56612468 C T SNP DST NM_183380 human genbank 54_36p -1 reviewed silent c.2049 p.Q683 1.000 HMMSmart_SM00150,superfamily_Spectrin repeat superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors KCNQ2 3785 genome.wustl.edu 36 20 61510320 61510320 + Missense_Mutation SNP C C A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 20 61510320 61510320 C A SNP KCNQ2 NM_172107 human genbank 54_36p -1 reviewed missense c.1777 p.V593L 1.000 HMMPfam_KCNQ_channel superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel - no_errors CACNG4 27092 genome.wustl.edu 36 17 62457341 62457341 + Missense_Mutation SNP G T T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 17 62457341 62457341 G T SNP CACNG4 NM_014405 human genbank 54_36p +1 reviewed missense c.743 p.R248M 0.053 NULL HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors EHD1 10938 genome.wustl.edu 36 11 64379512 64379512 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 64379512 64379512 G C SNP EHD1 NM_006795 human genbank 54_36p -1 reviewed missense c.938 p.S313C 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1 - no_errors FRMD8 83786 genome.wustl.edu 36 11 64928943 64928943 + Silent SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 64928943 64928943 C T SNP FRMD8 NM_031904 human genbank 54_36p +1 validated silent c.1104 p.C368 1.000 NULL HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M - no_errors SAPS3 55291 genome.wustl.edu 36 11 68100044 68100044 + Missense_Mutation SNP C C G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 68100044 68100044 C G SNP SAPS3 NM_018312 human genbank 54_36p +1 validated missense c.1349 p.T450R 0.957 HMMPfam_SAPS HMMPfam_SAPS - no_errors CLEC4F 165530 genome.wustl.edu 36 2 70900027 70900027 + Missense_Mutation SNP T T A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 2 70900027 70900027 T A SNP CLEC4F NM_173535 human genbank 54_36p -1 validated missense c.236 p.N79I 0.000 NULL PatternScan_C_TYPE_LECTIN_1,superfamily_C-type_lectin_fold - no_errors FOXC2 2303 genome.wustl.edu 36 16 85158762 85158762 + Missense_Mutation SNP C A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 16 85158762 85158762 C A SNP FOXC2 NM_005251 human genbank 54_36p +1 reviewed missense c.320 p.P107H 1.000 HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head HMMSmart_FH,superfamily_SSF46785,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2 - no_errors LOC100127905 0 genome.wustl.edu 36 6 86502185 86502185 + Missense_Mutation SNP T T C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 6 86502185 86502185 T C SNP LOC100127905 XM_001720540 human genbank 54_36p -1 model missense c.173 p.N58S 0.002 NULL NULL - no_errors ABCB1 5243 genome.wustl.edu 36 7 87011422 87011422 + Missense_Mutation SNP G G T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 7 87011422 87011422 G T SNP ABCB1 NM_000927 human genbank 54_36p -1 reviewed missense c.2170 p.L724M 0.273 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors LOC100129901 0 genome.wustl.edu 36 9 87569632 87569632 + Silent SNP T C C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 9 87569632 87569632 T C SNP LOC100129901 XM_001716099 human genbank 54_36p +1 model silent c.316 p.L106 0.988 NULL NULL - no_errors LDB3 11155 genome.wustl.edu 36 10 88431343 88431343 + Silent SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 10 88431343 88431343 G C SNP LDB3 NM_007078 human genbank 54_36p +1 reviewed silent c.492 p.P164 0.044 NULL HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1 - no_errors LOC401602 401602 genome.wustl.edu 36 X 92364445 92364445 + RNA SNP G G T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 X 92364445 92364445 G T SNP LOC401602 XR_016272 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene uc010fhq.1 0 genome.wustl.edu 36 2 94844729 94844729 + Missense_Mutation SNP T T C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 2 94844729 94844729 T C SNP uc010fhq.1 ENST00000358870 human ensembl 54_36p -1 known missense c.986 p.D329G 0.991 NULL NULL - no_errors POP1 10940 genome.wustl.edu 36 8 99231913 99231913 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 8 99231913 99231913 G C SNP POP1 NM_015029 human genbank 54_36p +1 reviewed missense c.1927 p.G643R 1.000 HMMPfam_POPLD HMMPfam_POP1,HMMPfam_POPLD - no_errors GIGYF1 64599 genome.wustl.edu 36 7 100117795 100117795 + Splice_Site SNP C T T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 7 100117795 100117795 C T SNP GIGYF1 NM_022574 human genbank 54_36p -1 validated splice_site c.2762-1 e22-1 1.000 - - - no_errors DYNC1H1 1778 genome.wustl.edu 36 14 101519527 101519527 + Missense_Mutation SNP T T G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 14 101519527 101519527 T G SNP DYNC1H1 NM_001376 human genbank 54_36p +1 reviewed missense c.1289 p.L430R 0.994 HMMPfam_DHC_N1 HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors CUX1 1523 genome.wustl.edu 36 7 101619860 101619860 + Silent SNP G A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 7 101619860 101619860 G A SNP CUX1 NM_181552 human genbank 54_36p +1 reviewed silent c.1065 p.K355 1.000 NULL superfamily_lambda repressor-like DNA-binding domains,HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors LOC442461 442461 genome.wustl.edu 36 X 103046078 103046078 + Silent SNP G A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 X 103046078 103046078 G A SNP LOC442461 XM_498379 human genbank 54_36p -1 model silent c.486 p.F162 0.985 superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone - no_errors IRS4 8471 genome.wustl.edu 36 X 107865082 107865082 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 X 107865082 107865082 G A SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed silent c.1149 p.L383 0.902 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI - no_errors LOC729164 729164 genome.wustl.edu 36 2 109327085 109327085 + RNA SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 2 109327085 109327085 G C SNP LOC729164 XR_041020 human genbank 54_36p -1 model rna NULL NULL 0.001 - - - no_errors EIF3IP1 442720 genome.wustl.edu 36 7 109387315 109387315 + RNA SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 7 109387315 109387315 C T SNP EIF3IP1 NR_003024 human genbank 54_36p -1 provisional rna NULL NULL 0.984 - - - pseudogene XPNPEP1 7511 genome.wustl.edu 36 10 111614947 111614947 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 10 111614947 111614947 G A SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional silent c.1857 p.I619 0.986 NULL HMMPfam_Creatinase_N,superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24,PatternScan_PROLINE_PEPTIDASE - no_errors NOTCH2 4853 genome.wustl.edu 36 1 120269658 120269658 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 120269658 120269658 C T SNP NOTCH2 NM_024408 human genbank 54_36p -1 reviewed missense c.4304 p.R1435Q 0.918 HMMSmart_NL,HMMPfam_Notch,superfamily_Notch_region superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_NL,HMMPfam_Notch,superfamily_Notch_region,HMMPfam_NOD,HMMPfam_NODP,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors LOC283155 283155 genome.wustl.edu 36 11 120738824 120738824 + RNA SNP C C G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 11 120738824 120738824 C G SNP LOC283155 XR_016866 human genbank 54_36p -1 model rna NULL NULL 0.904 - - - pseudogene TAS2R16 50833 genome.wustl.edu 36 7 122422791 122422791 + Missense_Mutation SNP A A G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 7 122422791 122422791 A G SNP TAS2R16 NM_016945 human genbank 54_36p -1 reviewed missense c.134 p.V45A 0.026 HMMPfam_TAS2R HMMPfam_TAS2R - no_errors DPYSL4 10570 genome.wustl.edu 36 10 133858395 133858395 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 10 133858395 133858395 C T SNP DPYSL4 NM_006426 human genbank 54_36p +1 validated missense c.370 p.R124W 1.000 superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases superfamily_Composite domain of metallo-dependent hydrolases,HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases - no_errors TG 7038 genome.wustl.edu 36 8 133980327 133980327 + Missense_Mutation SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 8 133980327 133980327 C T SNP TG NM_003235 human genbank 54_36p +1 validated missense c.3320 p.A1107V 0.679 HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211 superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2 - no_errors TG 7038 genome.wustl.edu 36 8 133994624 133994624 + Nonsense_Mutation SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 8 133994624 133994624 G A SNP TG NM_003235 human genbank 54_36p +1 validated nonsense c.4310 p.W1437* 0.005 NULL HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_COesterase,HMMPfam_GCC2_GCC3,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases,superfamily_TNF receptor-like - no_errors TF 7018 genome.wustl.edu 36 3 134966421 134966421 + Missense_Mutation SNP G G T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 3 134966421 134966421 G T SNP TF NM_001063 human genbank 54_36p +1 reviewed missense c.1310 p.C437F 0.042 superfamily_Periplasmic binding protein-like II,HMMPfam_Transferrin,HMMSmart_SM00094 superfamily_Periplasmic binding protein-like II,HMMPfam_Transferrin,HMMSmart_SM00094,PatternScan_TRANSFERRIN_1,PatternScan_TRANSFERRIN_2,PatternScan_TRANSFERRIN_3 - no_errors VGLL1 51442 genome.wustl.edu 36 X 135458615 135458615 + Missense_Mutation SNP C T T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 X 135458615 135458615 C T SNP VGLL1 NM_016267 human genbank 54_36p +1 provisional missense c.416 p.T139I 0.001 NULL HMMPfam_Vg_Tdu,HMMSmart_SM00711 - no_errors PCDHA9 9752 genome.wustl.edu 36 5 140210178 140210178 + Silent SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 5 140210178 140210178 C T SNP PCDHA9 NM_031857 human genbank 54_36p +1 reviewed silent c.1914 p.D638 0.110 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHB9 56127 genome.wustl.edu 36 5 140547275 140547275 + Missense_Mutation SNP G G T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 5 140547275 140547275 G T SNP PCDHB9 NM_019119 human genbank 54_36p +1 reviewed missense c.199 p.V67F 0.000 HMMPfam_Cadherin_2,superfamily_Cadherin-like HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PCDHGC5 56097 genome.wustl.edu 36 5 140849539 140849539 + Missense_Mutation SNP A A G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 5 140849539 140849539 A G SNP PCDHGC5 NM_018929 human genbank 54_36p +1 reviewed missense c.548 p.K183R 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors TRIM42 287015 genome.wustl.edu 36 3 141889337 141889337 + Nonsense_Mutation SNP G G T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 3 141889337 141889337 G T SNP TRIM42 NM_152616 human genbank 54_36p +1 reviewed nonsense c.1123 p.E375* 1.000 NULL PatternScan_TNFR_NGFR_1,superfamily_RING/U-box,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors FAM131B 9715 genome.wustl.edu 36 7 142764027 142764027 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 7 142764027 142764027 G C SNP FAM131B NM_001031690 human genbank 54_36p -1 validated missense c.737 p.A246G 0.425 NULL NULL - no_errors GRPEL2 134266 genome.wustl.edu 36 5 148710920 148710920 + Missense_Mutation SNP G G T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 5 148710920 148710920 G T SNP GRPEL2 NM_152407 human genbank 54_36p +1 validated missense c.560 p.G187V 1.000 HMMPfam_GrpE,superfamily_GrpE_head,PatternScan_GRPE HMMPfam_GrpE,superfamily_GrpE_head,PatternScan_GRPE - no_errors DCHS2 54798 genome.wustl.edu 36 4 155438524 155438524 + Missense_Mutation SNP T A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 4 155438524 155438524 T A SNP DCHS2 NM_017639 human genbank 54_36p -1 validated missense c.5027 p.E1676V 1.000 HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 - no_errors ACCN5 51802 genome.wustl.edu 36 4 156970640 156970640 + Missense_Mutation SNP C A A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 4 156970640 156970640 C A SNP ACCN5 NM_017419 human genbank 54_36p -1 reviewed missense c.1336 p.G446C 0.997 HMMPfam_ASC PatternScan_ASC,HMMPfam_ASC - no_errors OR10J1 26476 genome.wustl.edu 36 1 157602801 157602801 + Missense_Mutation SNP T T A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 157602801 157602801 T A SNP OR10J1 ENST00000328408 human ensembl 54_36p +1 known missense c.227 p.V76D 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_stop_codon DUSP27 92235 genome.wustl.edu 36 1 165362345 165362345 + Silent SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 165362345 165362345 G C SNP DUSP27 NM_001080426 human genbank 54_36p +1 provisional silent c.1353 p.L451 1.000 NULL PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc - no_errors SCN3A 6328 genome.wustl.edu 36 2 165655260 165655260 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 2 165655260 165655260 G A SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed silent c.5649 p.P1883 0.999 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ - no_errors PCDH24 54825 genome.wustl.edu 36 5 175950181 175950181 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 5 175950181 175950181 G C SNP PCDH24 NM_017675 human genbank 54_36p +1 reviewed missense c.3426 p.E1142D 0.820 NULL superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1 - no_errors GPRIN1 114787 genome.wustl.edu 36 5 175957602 175957602 + Missense_Mutation SNP C C A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 5 175957602 175957602 C A SNP GPRIN1 NM_052899 human genbank 54_36p -1 validated missense c.1840 p.G614W 0.000 NULL NULL - no_errors ZNF385B 151126 genome.wustl.edu 36 2 180342629 180342629 + Silent SNP G G A novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 2 180342629 180342629 G A SNP ZNF385B NM_152520 human genbank 54_36p -1 validated silent c.99 p.F33 1.000 HMMSmart_SM00451 HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors LAMC1 3915 genome.wustl.edu 36 1 181353904 181353904 + Missense_Mutation SNP A A G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 181353904 181353904 A G SNP LAMC1 NM_002293 human genbank 54_36p +1 reviewed missense c.1990 p.S664G 1.000 superfamily_Grow_fac_recept,HMMSmart_LamB,HMMPfam_Laminin_B HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMSmart_LamB,HMMPfam_Laminin_B,PatternScan_EGF_2 - no_errors HMCN1 83872 genome.wustl.edu 36 1 184274712 184274712 + Missense_Mutation SNP A A G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 184274712 184274712 A G SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.5980 p.I1994V 0.929 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2 - no_errors MCF2L2 23101 genome.wustl.edu 36 3 184495881 184495881 + Missense_Mutation SNP G G C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 3 184495881 184495881 G C SNP MCF2L2 NM_015078 human genbank 54_36p -1 validated missense c.1576 p.L526V 1.000 NULL HMMSmart_SM00516,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors OSTalpha 200931 genome.wustl.edu 36 3 197440158 197440158 + Silent SNP C C T novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 3 197440158 197440158 C T SNP OSTalpha NM_152672 human genbank 54_36p +1 validated silent c.603 p.L201 0.683 NULL NULL - no_errors TTC13 79573 genome.wustl.edu 36 1 229181088 229181088 + Missense_Mutation SNP C G G novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 229181088 229181088 C G SNP TTC13 NM_024525 human genbank 54_36p -1 validated missense c.112 p.G38R 0.001 NULL HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2 - no_errors OR2G3 81469 genome.wustl.edu 36 1 245835838 245835838 + Missense_Mutation SNP A A C novel unknown TCGA-23-2641-01A-01D-1526-09 TCGA-23-2641-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f91a1a25-fede-4430-b5d9-d768bce3e101 3cc43868-18ab-4129-8ebf-af7cdfd93025 1 245835838 245835838 A C SNP OR2G3 NM_001001914 human genbank 54_36p +1 provisional missense c.328 p.T110P 0.001 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors