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 default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AMPD2 0 genome.wustl.edu 37 1 110171967 110171967 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 110171967 110171967 G A SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.1879 p.V627M 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 292 0 0 300 34 10.1796 MFN2 0 genome.wustl.edu 37 1 12062117 12062117 + Nonsense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 12062117 12062117 C T SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known nonsense c.1117 p.R373* 0.998 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 217 1 0.458716 205 72 25.9928 MTMR11 0 genome.wustl.edu 37 1 149903217 149903217 + Nonsense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 149903217 149903217 G A SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known nonsense c.1225 p.R409* 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 142 0 0 121 31 20.3947 INSRR 0 genome.wustl.edu 37 1 156819226 156819226 + Missense_Mutation SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 156819226 156819226 T C SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.1256 p.N419S 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 145 0 0 146 62 29.8077 GORAB 0 genome.wustl.edu 37 1 170521254 170521254 + Missense_Mutation SNP C C G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 170521254 170521254 C G SNP GORAB ENST00000367763 human ensembl 74_37 +1 known missense c.836 p.T279R 1.000 pfam_Transcript_act pfam_Transcript_act - no_errors GORAB HGNC ENSG00000120370 104 0 0 90 9 9.09091 TNR 0 genome.wustl.edu 37 1 175372750 175372750 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 175372750 175372750 G T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.502 p.Q168K 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 114 0 0 141 27 16.0714 CRB1 0 genome.wustl.edu 37 1 197396612 197396612 + Silent SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 197396612 197396612 T C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.2157 p.D719 0.633 pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 75 0 0 87 8 8.42105 KCTD3 0 genome.wustl.edu 37 1 215793886 215793886 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 215793886 215793886 C T SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.2374 p.P792S 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 173 0 0 149 47 23.9796 TGFB2 0 genome.wustl.edu 37 1 218614769 218614769 + RNA SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 218614769 218614769 C T SNP TGFB2 ENST00000479322 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TGFB2 HGNC ENSG00000092969 18 0 0 22 8 26.6667 LRRC47 0 genome.wustl.edu 37 1 3701670 3701670 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 3701670 3701670 C T SNP LRRC47 ENST00000378251 human ensembl 74_37 -1 known missense c.1175 p.R392Q 0.217 smart_B3/B4_tRNA-bd pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 83 0 0 89 20 18.3486 CTBS 0 genome.wustl.edu 37 1 85020805 85020805 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 85020805 85020805 G C SNP CTBS ENST00000370630 human ensembl 74_37 -1 known missense c.1035 p.N345K 0.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CTBS HGNC ENSG00000117151 144 1 0.689655 122 12 8.95522 DPYD 0 genome.wustl.edu 37 1 98058818 98058818 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 1 98058818 98058818 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1084 p.V362I 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 215 0 0 161 26 13.9037 FBXW4 0 genome.wustl.edu 37 10 103370992 103370992 + RNA SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 10 103370992 103370992 G C SNP FBXW4 ENST00000470093 human ensembl 74_37 -1 known rna NULL NULL 0.187 - - - no_errors FBXW4 HGNC ENSG00000107829 103 0 0 100 6 5.66038 SVIL 0 genome.wustl.edu 37 10 29769635 29769635 + Nonsense_Mutation SNP A A T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 10 29769635 29769635 A T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known nonsense c.5208 p.Y1736* 0.992 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 268 1 0.371747 279 27 8.82353 GDF2 0 genome.wustl.edu 37 10 48414362 48414362 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 10 48414362 48414362 C A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.506 p.S169I 0.026 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 68 0 0 48 22 31.4286 USP54 0 genome.wustl.edu 37 10 75289589 75289589 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 10 75289589 75289589 G A SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.1909 p.R637C 0.658 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 226 0 0 232 22 8.66142 OPCML 0 genome.wustl.edu 37 11 132527089 132527089 + Missense_Mutation SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 11 132527089 132527089 T C SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.293 p.Y98C 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 136 0 0 111 14 11.2 NUP160 0 genome.wustl.edu 37 11 47814468 47814468 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 11 47814468 47814468 C A SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.3320 p.R1107L 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 218 0 0 176 26 12.8713 MS4A14 0 genome.wustl.edu 37 11 60184013 60184013 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 11 60184013 60184013 C T SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known silent c.1572 p.G524 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 124 0 0 121 15 11.0294 SART1 0 genome.wustl.edu 37 11 65743976 65743976 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 11 65743976 65743976 C T SNP SART1 ENST00000312397 human ensembl 74_37 +1 known silent c.1683 p.R561 0.995 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 82 0 0 56 16 22.2222 PAK1 0 genome.wustl.edu 37 11 77066712 77066712 + Splice_Site SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 11 77066712 77066712 C T SNP PAK1 ENST00000278568 human ensembl 74_37 -1 known splice_site c.772+1 e6+1 1.000 - - - no_errors PAK1 HGNC ENSG00000149269 265 0 0 222 28 11.2 FZD4 0 genome.wustl.edu 37 11 86663042 86663042 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 11 86663042 86663042 C T SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known silent c.756 p.E252 0.998 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 39 0 0 38 9 19.1489 TRIM49C 0 genome.wustl.edu 37 11 89774511 89774511 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 11 89774511 89774511 G T SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.1152 p.K384N 0.001 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 211 0 0 124 11 8.14815 MED17 0 genome.wustl.edu 37 11 93543040 93543040 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 11 93543040 93543040 C T SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.1742 p.S581L 1.000 NULL pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 233 1 0.42735 193 22 10.2326 STAB2 0 genome.wustl.edu 37 12 104118856 104118856 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 12 104118856 104118856 G A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.4787 p.R1596H 0.971 superfamily_FAS1_domain,smart_EG-like_dom,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 234 0 0 185 58 23.8683 HECTD4 0 genome.wustl.edu 37 12 112600915 112600915 + Missense_Mutation SNP C C G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 12 112600915 112600915 C G SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.12535 p.D4179H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 232 0 0 201 56 21.7899 DNAH10 0 genome.wustl.edu 37 12 124315205 124315205 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 12 124315205 124315205 G C SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.4150 p.E1384Q 1.000 pfam_Dynein_heavy_dom-2,superfamily_PyrdxlP-dep_Trfase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 45 0 0 39 6 13.3333 PDZRN4 0 genome.wustl.edu 37 12 41900359 41900359 + Silent SNP T T A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 12 41900359 41900359 T A SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known silent c.945 p.P315 0.004 superfamily_PDZ pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 93 0 0 71 13 15.4762 PRICKLE1 0 genome.wustl.edu 37 12 42858256 42858256 + Missense_Mutation SNP A A C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 12 42858256 42858256 A C SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1580 p.L527R 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 274 1 0.363636 231 29 11.1538 KRT78 0 genome.wustl.edu 37 12 53242671 53242671 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 12 53242671 53242671 C T SNP KRT78 ENST00000304620 human ensembl 74_37 -1 known missense c.44 p.R15H 0.568 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 47 0 0 26 11 29.7297 KERA 0 genome.wustl.edu 37 12 91445274 91445274 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 12 91445274 91445274 C A SNP KERA ENST00000266719 human ensembl 74_37 -1 known missense c.908 p.C303F 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors KERA HGNC ENSG00000139330 56 0 0 35 9 20.4545 C12orf55 0 genome.wustl.edu 37 12 97073407 97073407 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 12 97073407 97073407 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.5593 p.V1865M 0.997 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 228 0 0 184 41 18.2222 TUBA3C 0 genome.wustl.edu 37 13 19751671 19751671 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 13 19751671 19751671 G C SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.452 p.S151C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 171 0 0 161 41 20.297 DCLK1 0 genome.wustl.edu 37 13 36379850 36379850 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 13 36379850 36379850 G T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1930 p.H644N 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 209 0 0 244 20 7.57576 SMAD9 0 genome.wustl.edu 37 13 37446989 37446989 + Missense_Mutation SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 13 37446989 37446989 T C SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.476 p.K159R 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 73 0 0 65 23 26.1364 CAB39L 0 genome.wustl.edu 37 13 49924993 49924993 + Nonsense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 13 49924993 49924993 G A SNP CAB39L ENST00000347776 human ensembl 74_37 -1 known nonsense c.451 p.R151* 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 163 0 0 199 12 5.6872 SLITRK1 0 genome.wustl.edu 37 13 84454621 84454621 + Missense_Mutation SNP C C G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 13 84454621 84454621 C G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1022 p.C341S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 143 0 0 157 36 18.6528 SLITRK5 0 genome.wustl.edu 37 13 88329122 88329122 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 13 88329122 88329122 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1479 p.I493 0.034 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 128 0 0 135 12 8.16327 SLITRK5 0 genome.wustl.edu 37 13 88330443 88330443 + Nonsense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 13 88330443 88330443 G T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known nonsense c.2800 p.E934* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 226 1 0.440529 254 57 18.328 MIPOL1 0 genome.wustl.edu 37 14 37739664 37739664 + Missense_Mutation SNP A A C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 14 37739664 37739664 A C SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.427 p.K143Q 1.000 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 33 0 0 31 6 16.2162 PTPN21 0 genome.wustl.edu 37 14 88945666 88945666 + Silent SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 14 88945666 88945666 G A SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known silent c.2109 p.D703 0.986 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 122 0 0 113 15 11.7188 UNC79 0 genome.wustl.edu 37 14 94120100 94120100 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 14 94120100 94120100 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.6279 p.P2093 0.046 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 800 1 0.124844 733 85 10.3912 ATG2B 0 genome.wustl.edu 37 14 96789038 96789038 + Missense_Mutation SNP A A T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 14 96789038 96789038 A T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.2575 p.S859T 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 113 0 0 91 28 23.5294 SNORD115-6 0 genome.wustl.edu 37 15 25425725 25425725 + RNA SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 15 25425725 25425725 C T SNP SNORD115-6 ENST00000363942 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors SNORD115-6 HGNC ENSG00000200812 422 0 0 375 98 20.7188 ANKDD1A 0 genome.wustl.edu 37 15 65226358 65226358 + Missense_Mutation SNP A A G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 15 65226358 65226358 A G SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known missense c.791 p.Y264C 0.995 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 138 0 0 133 12 8.27586 IL16 0 genome.wustl.edu 37 15 81584977 81584977 + Missense_Mutation SNP C C G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 15 81584977 81584977 C G SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.1501 p.R501G 0.722 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 90 0 0 99 10 9.17431 NOMO1 0 genome.wustl.edu 37 16 14947462 14947462 + Splice_Site SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 16 14947462 14947462 G T SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known splice_site c.873+1 e8+1 1.000 - - - no_errors NOMO1 HGNC ENSG00000103512 446 1 0.223714 456 39 7.87879 DNAH3 0 genome.wustl.edu 37 16 21033315 21033315 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 16 21033315 21033315 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5754 p.M1918I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 54 0 0 28 8 22.2222 SLC5A11 0 genome.wustl.edu 37 16 24918379 24918379 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 16 24918379 24918379 C T SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known missense c.1148 p.A383V 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 138 0 0 95 21 18.1034 SLX4 0 genome.wustl.edu 37 16 3647972 3647972 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 16 3647972 3647972 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.1192 p.R398W 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 151 0 0 110 7 5.98291 RBFOX1 0 genome.wustl.edu 37 16 7383011 7383011 + Silent SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 16 7383011 7383011 G A SNP RBFOX1 ENST00000311745 human ensembl 74_37 +1 known silent c.9 p.A3 1.000 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 212 0 0 216 24 10 FBXL16 0 genome.wustl.edu 37 16 747115 747115 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 16 747115 747115 C T SNP FBXL16 ENST00000324361 human ensembl 74_37 -1 known silent c.291 p.T97 1.000 superfamily_F-box_dom superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 54 0 0 64 9 12.3288 MYH13 0 genome.wustl.edu 37 17 10224947 10224947 + Missense_Mutation SNP C C G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 17 10224947 10224947 C G SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.3013 p.E1005Q 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 91 0 0 47 22 31.8841 MPP2 0 genome.wustl.edu 37 17 41959871 41959871 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 17 41959871 41959871 C T SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known silent c.534 p.T178 0.322 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 58 0 0 47 13 21.6667 COL1A1 0 genome.wustl.edu 37 17 48270355 48270355 + Silent SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 17 48270355 48270355 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known silent c.1821 p.V607 0.668 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 72 0 0 51 13 20.3125 SCPEP1 0 genome.wustl.edu 37 17 55058576 55058576 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 17 55058576 55058576 G T SNP SCPEP1 ENST00000575423 human ensembl 74_37 +1 known missense c.175 p.G59C 1.000 NULL NULL - no_errors SCPEP1 HGNC ENSG00000121064 72 0 0 50 10 16.6667 SLC13A5 0 genome.wustl.edu 37 17 6607272 6607272 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 17 6607272 6607272 G T SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known missense c.472 p.Q158K 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 57 0 0 30 12 28.5714 METTL4 0 genome.wustl.edu 37 18 2539062 2539062 + Nonsense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 18 2539062 2539062 C T SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known nonsense c.1356 p.W452* 1.000 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 202 0 0 145 42 22.4599 SEC11C 0 genome.wustl.edu 37 18 56824886 56824886 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 18 56824886 56824886 C A SNP SEC11C ENST00000587834 human ensembl 74_37 +1 known missense c.514 p.P172T 1.000 tigrfam_Peptidase_S26B pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B - no_errors SEC11C HGNC ENSG00000166562 53 0 0 27 2 6.89655 DOCK6 0 genome.wustl.edu 37 19 11313353 11313353 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 19 11313353 11313353 G C SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.5268 p.F1756L 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 273 1 0.364964 155 79 33.7607 BEST2 0 genome.wustl.edu 37 19 12866462 12866462 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 19 12866462 12866462 G A SNP BEST2 ENST00000042931 human ensembl 74_37 +1 known missense c.748 p.A250T 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 125 0 0 63 40 38.835 ADAMTS10 0 genome.wustl.edu 37 19 8670006 8670006 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 19 8670006 8670006 C A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.326 p.R109L 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 33 0 0 37 3 7.5 MUC16 0 genome.wustl.edu 37 19 8994159 8994159 + Nonsense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 19 8994159 8994159 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.41526 p.C13842* 0.940 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 97 0 0 60 5 7.69231 PSD4 0 genome.wustl.edu 37 2 113940797 113940797 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 113940797 113940797 C A SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.764 p.P255H 0.987 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 146 0 0 139 11 7.33333 C2orf76 0 genome.wustl.edu 37 2 120078733 120078733 + Missense_Mutation SNP A A G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 120078733 120078733 A G SNP C2orf76 ENST00000334816 human ensembl 74_37 -1 known missense c.181 p.Y61H 1.000 pfam_UPF0538 pfam_UPF0538 - no_errors C2orf76 HGNC ENSG00000186132 76 0 0 56 5 8.19672 THSD7B 0 genome.wustl.edu 37 2 138373815 138373815 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 138373815 138373815 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3503 p.C1168Y 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 213 0 0 159 35 18.0412 LRP1B 0 genome.wustl.edu 37 2 141660534 141660534 + Missense_Mutation SNP C C G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 141660534 141660534 C G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3721 p.E1241Q 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 146 0 0 106 15 12.3967 TTC21B 0 genome.wustl.edu 37 2 166755241 166755241 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 166755241 166755241 C T SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.2905 p.E969K 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 76 0 0 58 10 14.7059 SCN9A 0 genome.wustl.edu 37 2 167060651 167060651 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 167060651 167060651 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.4591 p.V1531I 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 42 0 0 32 6 15.7895 METAP1D 0 genome.wustl.edu 37 2 172930411 172930411 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 172930411 172930411 G C SNP METAP1D ENST00000315796 human ensembl 74_37 +1 known missense c.428 p.G143A 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC ENSG00000172878 141 0 0 97 18 15.6522 TTN 0 genome.wustl.edu 37 2 179395550 179395550 + Silent SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 179395550 179395550 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.98088 p.V32696 0.995 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 82 0 0 59 6 9.23077 NUP35 0 genome.wustl.edu 37 2 184023068 184023068 + Nonsense_Mutation SNP A A T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 184023068 184023068 A T SNP NUP35 ENST00000295119 human ensembl 74_37 +1 known nonsense c.667 p.K223* 1.000 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 - no_errors NUP35 HGNC ENSG00000163002 80 0 0 51 10 16.3934 HEATR5B 0 genome.wustl.edu 37 2 37229454 37229454 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 37229454 37229454 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.5312 p.P1771L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 253 0 0 209 56 21.1321 NRXN1 0 genome.wustl.edu 37 2 51254932 51254932 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 51254932 51254932 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.480 p.P160 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 20 0 0 37 6 13.9535 DYSF 0 genome.wustl.edu 37 2 71886083 71886083 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 71886083 71886083 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.4807 p.A1603T 0.527 superfamily_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 227 0 0 252 24 8.69565 SPR 0 genome.wustl.edu 37 2 73115443 73115443 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 73115443 73115443 G C SNP SPR ENST00000234454 human ensembl 74_37 +1 known missense c.305 p.G102A 0.981 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 167 0 0 192 39 16.8831 SEMA4F 0 genome.wustl.edu 37 2 74889902 74889902 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 74889902 74889902 G A SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.500 p.R167Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 338 0 0 284 95 25.066 ANKRD20A8P 0 genome.wustl.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 95522786 95522786 T C SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 71 0 0 112 6 5.08475 NCAPH 0 genome.wustl.edu 37 2 97020058 97020058 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 97020058 97020058 C A SNP NCAPH ENST00000240423 human ensembl 74_37 +1 known missense c.1140 p.D380E 0.007 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 263 1 0.378788 280 28 9.09091 SLC13A3 0 genome.wustl.edu 37 20 45239108 45239108 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 20 45239108 45239108 C A SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.518 p.S173I 0.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 474 0 0 428 151 26.0794 TIAM1 0 genome.wustl.edu 37 21 32492849 32492849 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 21 32492849 32492849 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.4613 p.R1538K 0.997 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 76 0 0 51 20 28.169 MX2 0 genome.wustl.edu 37 21 42770928 42770928 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 21 42770928 42770928 G T SNP MX2 ENST00000330714 human ensembl 74_37 +1 known missense c.1254 p.K418N 0.434 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX2 HGNC ENSG00000183486 135 0 0 86 22 20.3704 MCM3AP 0 genome.wustl.edu 37 21 47703695 47703695 + Missense_Mutation SNP A A G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 21 47703695 47703695 A G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1277 p.L426P 0.381 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 150 0 0 104 33 24.0876 CECR1 0 genome.wustl.edu 37 22 17670888 17670888 + Nonsense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 22 17670888 17670888 G A SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known nonsense c.916 p.R306* 0.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 85 0 0 69 32 31.6832 PPM1F 0 genome.wustl.edu 37 22 22287943 22287943 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 22 22287943 22287943 C T SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known silent c.567 p.V189 0.997 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 63 0 0 89 7 7.29167 MIEF1 0 genome.wustl.edu 37 22 39909957 39909957 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 22 39909957 39909957 C A SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.1021 p.L341M 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 128 0 0 68 16 19.0476 PLXND1 0 genome.wustl.edu 37 3 129286351 129286351 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 3 129286351 129286351 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.4070 p.R1357H 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 14 0 0 14 4 22.2222 IGSF10 0 genome.wustl.edu 37 3 151155443 151155443 + Missense_Mutation SNP A A T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 3 151155443 151155443 A T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.6906 p.N2302K 0.643 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 179 0 0 160 62 27.9279 KLHL6 0 genome.wustl.edu 37 3 183211985 183211985 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 3 183211985 183211985 C A SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known missense c.1232 p.R411L 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 264 0 0 262 17 6.09319 IMPDH2 0 genome.wustl.edu 37 3 49065727 49065727 + Missense_Mutation SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 3 49065727 49065727 T C SNP IMPDH2 ENST00000326739 human ensembl 74_37 -1 known missense c.278 p.H93R 1.000 pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pirsf_IMP_DH,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH - no_errors IMPDH2 HGNC ENSG00000178035 82 0 0 43 11 20.3704 FEZF2 0 genome.wustl.edu 37 3 62357828 62357828 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 3 62357828 62357828 G C SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known missense c.716 p.P239R 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 9 0 0 11 6 35.2941 OR5K3 0 genome.wustl.edu 37 3 98110101 98110101 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 3 98110101 98110101 G C SNP OR5K3 ENST00000383695 human ensembl 74_37 +1 known missense c.592 p.V198L 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K3 HGNC ENSG00000206536 114 0 0 116 14 10.7692 BANK1 0 genome.wustl.edu 37 4 102984241 102984241 + Nonsense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 4 102984241 102984241 C T SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known nonsense c.2158 p.R720* 0.997 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 74 0 0 53 4 7.01754 AIMP1 0 genome.wustl.edu 37 4 107252898 107252898 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 4 107252898 107252898 G A SNP AIMP1 ENST00000394701 human ensembl 74_37 +1 known missense c.533 p.R178H 1.000 superfamily_NA-bd_OB-fold,pfscan_tRNA-bd_dom pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_t-SNARE,pfscan_tRNA-bd_dom - no_errors AIMP1 HGNC ENSG00000164022 314 0 0 212 31 12.7572 FAT4 0 genome.wustl.edu 37 4 126336957 126336957 + Missense_Mutation SNP T T G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 4 126336957 126336957 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.6839 p.L2280R 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 49 0 0 33 4 10.8108 ASIC5 0 genome.wustl.edu 37 4 156775288 156775288 + Missense_Mutation SNP A A G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 4 156775288 156775288 A G SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known missense c.526 p.Y176H 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 155 0 0 85 9 9.57447 ATP10D 0 genome.wustl.edu 37 4 47548832 47548832 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 4 47548832 47548832 G T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.1588 p.A530S 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 62 0 0 78 7 8.23529 AASDH 0 genome.wustl.edu 37 4 57204862 57204862 + Silent SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 4 57204862 57204862 G T SNP AASDH ENST00000205214 human ensembl 74_37 -1 known silent c.3003 p.I1001 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 141 0 0 83 12 12.6316 WFS1 0 genome.wustl.edu 37 4 6302687 6302687 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 4 6302687 6302687 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.1165 p.D389N 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 260 0 0 185 30 13.9535 APC 0 genome.wustl.edu 37 5 112174682 112174682 + Nonsense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 112174682 112174682 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.3391 p.Q1131* 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 116 0 0 57 46 44.6602 APC 0 genome.wustl.edu 37 5 112175639 112175639 + Nonsense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 112175639 112175639 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.4348 p.R1450* 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 89 0 0 76 7 8.43373 PCDHB2 0 genome.wustl.edu 37 5 140476413 140476413 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 140476413 140476413 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.2039 p.P680L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 122 0 0 130 12 8.4507 HDAC3 0 genome.wustl.edu 37 5 141016342 141016342 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 141016342 141016342 C T SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known missense c.16 p.A6T 1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 167 1 0.595238 148 17 10.303 NR3C1 0 genome.wustl.edu 37 5 142661488 142661488 + Missense_Mutation SNP C C G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 142661488 142661488 C G SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known missense c.2303 p.G768A 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 93 0 0 118 12 9.23077 FGF10 0 genome.wustl.edu 37 5 44388473 44388473 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 44388473 44388473 C T SNP FGF10 ENST00000264664 human ensembl 74_37 -1 known silent c.312 p.E104 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF10 HGNC ENSG00000070193 119 0 0 100 27 21.2598 HCN1 0 genome.wustl.edu 37 5 45353212 45353212 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 45353212 45353212 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1367 p.P456L 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 55 0 0 46 5 9.80392 MAP1B 0 genome.wustl.edu 37 5 71495024 71495024 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 71495024 71495024 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.5842 p.R1948W 0.507 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 177 0 0 122 16 11.5942 THBS4 0 genome.wustl.edu 37 5 79378239 79378239 + Missense_Mutation SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 5 79378239 79378239 T C SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.2695 p.Y899H 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 180 0 0 144 21 12.7273 HIST1H2AI 0 genome.wustl.edu 37 6 27776046 27776046 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 27776046 27776046 C A SNP HIST1H2AI ENST00000358739 human ensembl 74_37 +1 known missense c.59 p.S20Y 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 169 0 0 137 8 5.51724 HIST1H2AJ 0 genome.wustl.edu 37 6 27782460 27782460 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 27782460 27782460 G T SNP HIST1H2AJ ENST00000333151 human ensembl 74_37 -1 known missense c.59 p.S20Y 0.999 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AJ HGNC ENSG00000182611 79 0 0 76 19 20 BAG6 0 genome.wustl.edu 37 6 31606973 31606973 + Nonsense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 31606973 31606973 C A SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known nonsense c.3424 p.E1142* 1.000 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 63 0 0 46 6 11.5385 SLC22A23 0 genome.wustl.edu 37 6 3324180 3324180 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 3324180 3324180 C T SNP SLC22A23 ENST00000406686 human ensembl 74_37 -1 known missense c.970 p.V324M 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 61 0 0 29 15 34.0909 PI16 0 genome.wustl.edu 37 6 36929321 36929321 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 36929321 36929321 G T SNP PI16 ENST00000373674 human ensembl 74_37 +1 known missense c.488 p.C163F 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 145 0 0 113 42 27.0968 EYS 0 genome.wustl.edu 37 6 66204978 66204978 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 66204978 66204978 G A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.326 p.T109I 0.091 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 97 0 0 101 8 7.33945 COL12A1 0 genome.wustl.edu 37 6 75861908 75861908 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 75861908 75861908 G C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.3774 p.D1258E 0.996 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 73 0 0 57 10 14.9254 IBTK 0 genome.wustl.edu 37 6 82925890 82925890 + Nonsense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 82925890 82925890 G A SNP IBTK ENST00000306270 human ensembl 74_37 -1 known nonsense c.1504 p.R502* 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 98 0 0 53 12 18.4615 TBX18 0 genome.wustl.edu 37 6 85446858 85446858 + Missense_Mutation SNP A A T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 6 85446858 85446858 A T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1369 p.Y457N 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 161 0 0 112 17 13.1783 FSCN3 0 genome.wustl.edu 37 7 127238559 127238559 + Missense_Mutation SNP A A T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 127238559 127238559 A T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.1031 p.N344I 0.987 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 291 0 0 223 47 17.4074 PARP12 0 genome.wustl.edu 37 7 139737608 139737608 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 139737608 139737608 C T SNP PARP12 ENST00000263549 human ensembl 74_37 -1 known missense c.1231 p.A411T 1.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 84 0 0 73 20 21.5054 ZNF777 0 genome.wustl.edu 37 7 149148160 149148160 + Silent SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 149148160 149148160 G A SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known silent c.1017 p.R339 0.904 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 145 0 0 115 35 23.3333 FAM126A 0 genome.wustl.edu 37 7 23000007 23000007 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 23000007 23000007 G A SNP FAM126A ENST00000432176 human ensembl 74_37 -1 known missense c.859 p.P287S 1.000 pfam_Hyccin pfam_Hyccin - no_errors FAM126A HGNC ENSG00000122591 186 0 0 293 17 5.48387 BMPER 0 genome.wustl.edu 37 7 33946429 33946429 + Splice_Site SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 33946429 33946429 G A SNP BMPER ENST00000297161 human ensembl 74_37 +1 known splice_site c.134-1 e2-1 1.000 - - - no_errors BMPER HGNC ENSG00000164619 104 0 0 112 9 7.43802 TBX20 0 genome.wustl.edu 37 7 35284588 35284588 + Silent SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 35284588 35284588 G T SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known silent c.627 p.T209 0.980 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 59 0 0 66 4 5.71429 SDK1 0 genome.wustl.edu 37 7 4056825 4056825 + Missense_Mutation SNP G G A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 4056825 4056825 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2443 p.G815R 0.888 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 61 0 0 75 7 8.53659 PSPH 0 genome.wustl.edu 37 7 56087384 56087384 + Missense_Mutation SNP G G C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 56087384 56087384 G C SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.184 p.L62V 0.936 pfam_HAD-like_dom,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 56 0 0 65 16 19.7531 MAGI2 0 genome.wustl.edu 37 7 77755084 77755084 + Missense_Mutation SNP C C G TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 7 77755084 77755084 C G SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.3494 p.R1165T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 173 0 0 146 23 13.6095 EBAG9 0 genome.wustl.edu 37 8 110576743 110576743 + Silent SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 8 110576743 110576743 G T SNP EBAG9 ENST00000337573 human ensembl 74_37 +1 known silent c.597 p.R199 0.993 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 109 0 0 117 14 10.687 KCNU1 0 genome.wustl.edu 37 8 36675180 36675180 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 8 36675180 36675180 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.1008 p.V336 0.991 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 174 0 0 137 15 9.86842 PRKDC 0 genome.wustl.edu 37 8 48824975 48824975 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 8 48824975 48824975 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.2929 p.D977N 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 239 0 0 181 27 12.9808 MCMDC2 0 genome.wustl.edu 37 8 67786777 67786777 + Missense_Mutation SNP G G T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 8 67786777 67786777 G T SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.241 p.V81F 1.000 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 58 0 0 36 7 16.2791 EYA1 0 genome.wustl.edu 37 8 72123457 72123457 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 8 72123457 72123457 C A SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.1632 p.R544S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 159 0 0 114 9 7.31707 INTS8 0 genome.wustl.edu 37 8 95862222 95862222 + Missense_Mutation SNP A A T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 8 95862222 95862222 A T SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.1410 p.K470N 0.999 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 122 0 0 114 9 7.31707 TLN1 0 genome.wustl.edu 37 9 35711653 35711653 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 9 35711653 35711653 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.3818 p.R1273Q 1.000 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 309 0 0 178 81 31.2741 CAPN6 0 genome.wustl.edu 37 X 110496246 110496246 + Missense_Mutation SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d X 110496246 110496246 C T SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.496 p.A166T 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 93 0 0 39 19 32.7586 SLC25A6 0 genome.wustl.edu 37 X 1508415 1508415 + Missense_Mutation SNP T T C TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d X 1508415 1508415 T C SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known missense c.317 p.H106R 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 268 1 0.371747 206 29 12.3404 GPR173 0 genome.wustl.edu 37 X 53106025 53106025 + Silent SNP C C T TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d X 53106025 53106025 C T SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known silent c.222 p.V74 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 105 0 0 86 28 24.5614 PCDH11X 0 genome.wustl.edu 37 X 91133209 91133209 + Missense_Mutation SNP C C A TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d X 91133209 91133209 C A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1970 p.A657D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 66 0 0 52 33 38.8235 CCDC7 0 genome.wustl.edu 37 10 32833207 32833209 + In_Frame_Del DEL AAG AAG - TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 10 32833207 32833209 AAG - DEL CCDC7 ENST00000277657 human ensembl 74_37 +1 known in_frame_del c.1112_1114 p.E372in_frame_del 0.632:0.675:0.671 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 145 0 0 118 12 9.23077 BIRC6 0 genome.wustl.edu 37 2 32740737 32740740 + Frame_Shift_Del DEL GACT GACT - TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 GACT GACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 32740737 32740740 GACT - DEL BIRC6 ENST00000421745 human ensembl 74_37 +1 known frame_shift_del c.11249_11252 p.T3752fs 0.984:0.768:0.793:1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 98 0 0 90 12 11.7647 SLC8A1 0 genome.wustl.edu 37 2 40656342 40656342 + Frame_Shift_Del DEL C C - TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 2 40656342 40656342 C - DEL SLC8A1 ENST00000332839 human ensembl 74_37 -1 known frame_shift_del c.1079 p.S360fs 1.000 pfscan_DnaJ_domain,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 204 0 0 266 16 5.67376 KIAA1109 0 genome.wustl.edu 37 4 123268875 123268897 + Frame_Shift_Del DEL TAAAATCCCCAGCTTCCATAAGA TAAAATCCCCAGCTTCCATAAGA - TCGA-CG-4476-01A-01D-1158-08 TCGA-CG-4476-10A-01D-1158-08 TAAAATCCCCAGCTTCCATAAGA TAAAATCCCCAGCTTCCATAAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 38c30e53-4e81-49ce-b794-5f762ed76f1e e6d94f34-0c27-4a7b-adbd-d0fab08eb80d 4 123268875 123268897 TAAAATCCCCAGCTTCCATAAGA - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.13070_13092 p.S4359fs 0.999:0.113:0.998:1.000:0.989:1.000:1.000:0.201:1.000:1.000:1.000:1.000:1.000:0.988:0.998:0.999:0.825:0.824:0.977:0.979:0.990:1.000:1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 130 0 0 123 8 6.10687