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 GPSM2 0 genome.wustl.edu 37 1 109444442 109444442 + Silent SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 109444442 109444442 A G SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known silent c.828 p.K276 1.000 pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 83 0 0 35 11 23.913 FLG2 0 genome.wustl.edu 37 1 152328611 152328611 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 152328611 152328611 T G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.1651 p.S551R 0.132 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 593 0 0 258 289 52.8336 OR10K2 0 genome.wustl.edu 37 1 158390476 158390476 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 158390476 158390476 A C SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.181 p.F61V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 238 0 0 190 40 17.3913 MNDA 0 genome.wustl.edu 37 1 158819011 158819011 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 158819011 158819011 C T SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.1208 p.P403L 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 61 0 0 30 13 30.2326 ATP1A4 0 genome.wustl.edu 37 1 160147396 160147396 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 160147396 160147396 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.2678 p.R893H 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 130 0 0 133 7 5 CD84 0 genome.wustl.edu 37 1 160518103 160518103 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 160518103 160518103 T G SNP CD84 ENST00000534968 human ensembl 74_37 -1 known missense c.588 p.K196N 0.000 NULL pfscan_Ig-like_dom - no_errors CD84 HGNC ENSG00000066294 68 0 0 47 11 18.9655 QSOX1 0 genome.wustl.edu 37 1 180155295 180155295 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 180155295 180155295 A G SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.995 p.K332R 0.906 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 99 0 0 55 11 16.6667 USH2A 0 genome.wustl.edu 37 1 215914804 215914804 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 215914804 215914804 A G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.11624 p.L3875P 0.056 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 169 0 0 126 26 17.1053 USH2A 0 genome.wustl.edu 37 1 216373317 216373317 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 216373317 216373317 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3463 p.S1155R 0.684 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 136 0 0 105 40 27.5862 ITPKB 0 genome.wustl.edu 37 1 226923713 226923713 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 226923713 226923713 C A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.1447 p.D483Y 0.751 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 160 0 0 127 17 11.8056 HTR1D 0 genome.wustl.edu 37 1 23520606 23520606 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 23520606 23520606 G A SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.107 p.A36V 0.890 prints_5HT1D_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 150 0 0 99 32 24.4275 LYST 0 genome.wustl.edu 37 1 235918870 235918870 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 235918870 235918870 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.7137 p.L2379 0.988 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 292 0 0 243 29 10.6618 MYOM3 0 genome.wustl.edu 37 1 24387551 24387551 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 24387551 24387551 C A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.4002 p.K1334N 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 101 0 0 55 15 21.4286 OR2L2 0 genome.wustl.edu 37 1 248201728 248201728 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 248201728 248201728 T C SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known silent c.159 p.H53 0.269 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 415 0 0 369 30 7.5188 OR2M3 0 genome.wustl.edu 37 1 248366812 248366812 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 248366812 248366812 C T SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.443 p.S148F 0.095 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 309 0 0 244 62 20.2614 CSMD2 0 genome.wustl.edu 37 1 34112430 34112430 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 34112430 34112430 T G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.4592 p.N1531T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 31 0 0 19 6 24 AJAP1 0 genome.wustl.edu 37 1 4772679 4772679 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 4772679 4772679 T G SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known missense c.749 p.V250G 0.490 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 184 0 0 78 49 38.5827 WDR78 0 genome.wustl.edu 37 1 67292601 67292601 + Silent SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 67292601 67292601 A T SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known silent c.2241 p.T747 0.277 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 203 0 0 106 40 27.3973 IFI44L 0 genome.wustl.edu 37 1 79095598 79095598 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 79095598 79095598 C T SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.721 p.R241W 0.991 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 78 0 0 45 13 22.4138 WDR63 0 genome.wustl.edu 37 1 85594466 85594466 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 1 85594466 85594466 G A SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.2393 p.R798H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 67 0 0 52 16 23.5294 MKI67 0 genome.wustl.edu 37 10 129900854 129900854 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 10 129900854 129900854 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.9250 p.P3084S 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 266 0 0 170 33 16.2562 CUBN 0 genome.wustl.edu 37 10 17113494 17113494 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 10 17113494 17113494 T C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.2556 p.Q852 0.173 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 94 0 0 49 10 16.9492 ARMC3 0 genome.wustl.edu 37 10 23292249 23292249 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 10 23292249 23292249 A C SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.1637 p.K546T 0.979 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 113 0 0 72 26 26.5306 AKR1C4 0 genome.wustl.edu 37 10 5242199 5242199 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 10 5242199 5242199 G A SNP AKR1C4 ENST00000263126 human ensembl 74_37 +1 known missense c.140 p.R47H 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 118 0 0 80 42 34.4262 PCDH15 0 genome.wustl.edu 37 10 55582808 55582808 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 10 55582808 55582808 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4678 p.S1560G 0.939 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 193 0 0 149 29 16.2921 NRG3 0 genome.wustl.edu 37 10 84711261 84711261 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 10 84711261 84711261 T G SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1091 p.I364S 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 188 0 0 98 24 19.6721 DYNC2H1 0 genome.wustl.edu 37 11 103124033 103124033 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 103124033 103124033 A C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.10083 p.Q3361H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 86 0 0 29 24 45.283 TTC12 0 genome.wustl.edu 37 11 113220875 113220875 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 113220875 113220875 C T SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known missense c.1235 p.A412V 1.000 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 153 0 0 101 6 5.60748 ZBTB16 0 genome.wustl.edu 37 11 114118040 114118040 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 114118040 114118040 A C SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1745 p.K582T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 80 0 0 62 4 6.06061 BCL9L 0 genome.wustl.edu 37 11 118771672 118771672 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 118771672 118771672 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.2780 p.P927L 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 85 0 0 60 13 17.8082 SAA3P 0 genome.wustl.edu 37 11 18134215 18134215 + RNA SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 18134215 18134215 A G SNP SAA3P ENST00000534768 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors SAA3P HGNC ENSG00000166787 34 0 0 28 5 15.1515 NAV2 0 genome.wustl.edu 37 11 20077343 20077343 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 20077343 20077343 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.4740 p.S1580 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 152 0 0 78 31 28.4404 GAS2 0 genome.wustl.edu 37 11 22833442 22833442 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 22833442 22833442 C T SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known silent c.822 p.I274 1.000 superfamily_GAS2_dom pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 112 0 0 73 7 8.75 OR51T1 0 genome.wustl.edu 37 11 4904025 4904025 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 4904025 4904025 A G SNP OR51T1 ENST00000380378 human ensembl 74_37 +1 known missense c.977 p.K326R 0.222 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51T1 HGNC ENSG00000176900 120 0 0 84 23 21.4953 OR51B5 0 genome.wustl.edu 37 11 5364505 5364505 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 5364505 5364505 A G SNP OR51B5 ENST00000300773 human ensembl 74_37 -1 known missense c.250 p.W84R 0.765 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 86 0 0 55 27 32.9268 OR5D14 0 genome.wustl.edu 37 11 55563610 55563610 + Missense_Mutation SNP T T A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 55563610 55563610 T A SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.579 p.D193E 0.054 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 288 0 0 195 37 15.9483 OR5AP2 0 genome.wustl.edu 37 11 56409864 56409864 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 56409864 56409864 A C SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.55 p.F19V 0.878 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 82 0 0 53 6 10.1695 CYB561A3 0 genome.wustl.edu 37 11 61117879 61117879 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 61117879 61117879 C A SNP CYB561A3 ENST00000426130 human ensembl 74_37 -1 known missense c.772 p.G258W 0.024 NULL pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561A3 HGNC ENSG00000162144 41 0 0 28 2 6.66667 CNGA4 0 genome.wustl.edu 37 11 6265440 6265440 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 6265440 6265440 A C SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1529 p.K510T 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 102 0 0 61 17 21.7949 GPR137 0 genome.wustl.edu 37 11 64056123 64056123 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 64056123 64056123 T G SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known missense c.961 p.F321V 1.000 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 23 0 0 13 7 35 SLC22A11 0 genome.wustl.edu 37 11 64329765 64329765 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 64329765 64329765 A G SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.679 p.R227G 0.445 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 SLC22A11 HGNC ENSG00000168065 135 0 0 98 6 5.76923 RASGRP2 0 genome.wustl.edu 37 11 64496457 64496457 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 64496457 64496457 C T SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known missense c.1649 p.R550H 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 40 0 0 27 7 20.5882 NAALAD2 0 genome.wustl.edu 37 11 89880537 89880537 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 89880537 89880537 A C SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.234 p.Q78H 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 79 0 0 51 5 8.92857 TAOK3 0 genome.wustl.edu 37 12 118619209 118619209 + Silent SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 118619209 118619209 C A SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known silent c.1533 p.L511 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 167 0 0 108 19 14.9606 BCAT1 0 genome.wustl.edu 37 12 24970853 24970853 + RNA SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 24970853 24970853 A T SNP BCAT1 ENST00000543099 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors BCAT1 HGNC ENSG00000060982 19 0 0 6 11 64.7059 ALG10 0 genome.wustl.edu 37 12 34177047 34177047 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 34177047 34177047 T C SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known missense c.322 p.F108L 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 238 0 0 113 27 19.2857 ADAMTS20 0 genome.wustl.edu 37 12 43777757 43777757 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 43777757 43777757 T C SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.4476 p.G1492 0.990 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 67 0 0 27 19 41.3043 KRT73 0 genome.wustl.edu 37 12 53002152 53002152 + Missense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 53002152 53002152 G T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.1451 p.P484H 0.995 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 56 0 0 43 6 12.2449 PDE1B 0 genome.wustl.edu 37 12 54960855 54960855 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 54960855 54960855 T C SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known missense c.211 p.Y71H 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 28 0 0 17 8 32 CD163L1 0 genome.wustl.edu 37 12 7531837 7531837 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 7531837 7531837 A C SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2108 p.V703G 0.998 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 92 0 0 62 16 20.5128 LRRIQ1 0 genome.wustl.edu 37 12 85449826 85449826 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 85449826 85449826 A C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.1255 p.K419Q 0.016 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 191 0 0 135 12 8.16327 C12orf50 0 genome.wustl.edu 37 12 88388493 88388493 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 12 88388493 88388493 A C SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.509 p.L170R 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 92 0 0 47 16 25.3968 NALCN 0 genome.wustl.edu 37 13 101717888 101717888 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 13 101717888 101717888 T G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4472 p.K1491T 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 106 0 0 113 17 13.0769 NALCN 0 genome.wustl.edu 37 13 102051417 102051417 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 13 102051417 102051417 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.61 p.D21N 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 101 0 0 42 80 65.5738 HHIPL1 0 genome.wustl.edu 37 14 100123443 100123443 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 14 100123443 100123443 G A SNP HHIPL1 ENST00000330710 human ensembl 74_37 +1 known missense c.1009 p.G337R 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors HHIPL1 HGNC ENSG00000182218 563 0 0 432 27 5.88235 ACIN1 0 genome.wustl.edu 37 14 23530626 23530626 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 14 23530626 23530626 C A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.3479 p.R1160L 0.996 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 144 0 0 87 30 25.641 AKAP6 0 genome.wustl.edu 37 14 33292966 33292966 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 14 33292966 33292966 T C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.5947 p.S1983P 0.012 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 122 0 0 84 16 16 LRFN5 0 genome.wustl.edu 37 14 42356853 42356853 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 14 42356853 42356853 T C SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1025 p.L342P 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 98 0 0 81 25 23.5849 SIX6 0 genome.wustl.edu 37 14 60976152 60976152 + Missense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 14 60976152 60976152 G T SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known missense c.36 p.Q12H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 118 0 0 52 17 24.6377 ACTN1 0 genome.wustl.edu 37 14 69349291 69349291 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 14 69349291 69349291 G A SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known missense c.1837 p.R613W 0.994 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 106 1 0.934579 62 8 11.4286 SECISBP2L 0 genome.wustl.edu 37 15 49303966 49303966 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 15 49303966 49303966 A C SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.1826 p.F609C 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 85 0 0 36 9 20 PDE8A 0 genome.wustl.edu 37 15 85619125 85619125 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 15 85619125 85619125 C T SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.467 p.T156I 1.000 pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 327 0 0 263 61 18.8272 MYH11 0 genome.wustl.edu 37 16 15841950 15841950 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 16 15841950 15841950 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.2155 p.R719W 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 103 0 0 81 15 15.625 NPRL3 0 genome.wustl.edu 37 16 160567 160567 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 16 160567 160567 C T SNP NPRL3 ENST00000399953 human ensembl 74_37 -1 known silent c.585 p.L195 0.965 pfam_NPR3 pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 33 0 0 26 5 16.129 ACSM2A 0 genome.wustl.edu 37 16 20481029 20481029 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 16 20481029 20481029 A G SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.584 p.K195R 0.017 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 301 0 0 236 37 13.5531 NPIPB3 0 genome.wustl.edu 37 16 21416254 21416254 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 16 21416254 21416254 C T SNP NPIPB3 ENST00000458643 human ensembl 74_37 -1 known missense c.454 p.A152T 0.000 NULL NULL - no_errors NPIPB3 HGNC ENSG00000169246 142 0 0 124 7 5.34351 TNRC6A 0 genome.wustl.edu 37 16 24801035 24801035 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 16 24801035 24801035 C T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.1072 p.P358S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 139 0 0 128 23 15.2318 C16orf92 0 genome.wustl.edu 37 16 30035099 30035099 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 16 30035099 30035099 G A SNP C16orf92 ENST00000300575 human ensembl 74_37 +1 known missense c.182 p.R61H 0.000 NULL NULL - no_errors C16orf92 HGNC ENSG00000167194 63 0 0 44 9 16.9811 SALL1 0 genome.wustl.edu 37 16 51174365 51174365 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 16 51174365 51174365 A G SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1768 p.S590P 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 112 0 0 71 13 15.4762 ADAMTS18 0 genome.wustl.edu 37 16 77325275 77325275 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 16 77325275 77325275 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3290 p.R1097H 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,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 ADAMTS18 HGNC ENSG00000140873 383 0 0 200 63 23.9544 DNAH9 0 genome.wustl.edu 37 17 11696975 11696975 + Silent SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 17 11696975 11696975 T G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.8217 p.T2739 0.899 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 105 0 0 28 12 30 NCOR1 0 genome.wustl.edu 37 17 16041498 16041498 + Missense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 17 16041498 16041498 G T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.1381 p.L461I 0.998 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 50 0 0 24 5 17.2414 ANKFY1 0 genome.wustl.edu 37 17 4086708 4086708 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 17 4086708 4086708 G A SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.2063 p.A688V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 160 0 0 71 33 31.7308 ACOX1 0 genome.wustl.edu 37 17 73945808 73945808 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 17 73945808 73945808 C T SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known missense c.1469 p.R490H 0.989 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 125 0 0 70 22 23.913 SOX15 0 genome.wustl.edu 37 17 7491725 7491725 + Missense_Mutation SNP C C G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 17 7491725 7491725 C G SNP SOX15 ENST00000250055 human ensembl 74_37 -1 known missense c.673 p.G225R 0.617 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX15 HGNC ENSG00000129194 292 0 0 115 94 44.9761 PIK3R5 0 genome.wustl.edu 37 17 8791715 8791715 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 17 8791715 8791715 C T SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known silent c.1389 p.L463 0.533 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 13 0 0 10 5 33.3333 NTN1 0 genome.wustl.edu 37 17 8926512 8926512 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 17 8926512 8926512 C T SNP NTN1 ENST00000173229 human ensembl 74_37 +1 known silent c.822 p.Y274 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 14 0 0 12 4 25 LIPG 0 genome.wustl.edu 37 18 47101837 47101837 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 18 47101837 47101837 C T SNP LIPG ENST00000261292 human ensembl 74_37 +1 known missense c.670 p.R224C 0.023 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipo_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC ENSG00000101670 100 0 0 62 16 20.5128 DDX49 0 genome.wustl.edu 37 19 19032555 19032555 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 19032555 19032555 T C SNP DDX49 ENST00000247003 human ensembl 74_37 +1 known missense c.323 p.M108T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 132 0 0 48 33 40.7407 ZNF98 0 genome.wustl.edu 37 19 22574432 22574432 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 22574432 22574432 T C SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known silent c.1605 p.R535 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 73 0 0 36 11 23.4043 ZNF98 0 genome.wustl.edu 37 19 22574473 22574473 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 22574473 22574473 C T SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.1564 p.E522K 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 100 0 0 54 9 14.2857 FCGBP 0 genome.wustl.edu 37 19 40361014 40361014 + Missense_Mutation SNP G G C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 40361014 40361014 G C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.15394 p.R5132G 0.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 81 0 0 50 10 16.6667 FCGBP 0 genome.wustl.edu 37 19 40382289 40382289 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 40382289 40382289 A C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.10597 p.F3533V 0.952 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 143 0 0 147 16 9.81595 NLRP9 0 genome.wustl.edu 37 19 56243743 56243743 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 56243743 56243743 T C SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1454 p.Q485R 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 248 0 0 161 42 20.6897 ZNF419 0 genome.wustl.edu 37 19 58004370 58004370 + Missense_Mutation SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 58004370 58004370 A T SNP ZNF419 ENST00000424930 human ensembl 74_37 +1 known missense c.448 p.S150C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 60 0 0 33 15 31.25 MUC16 0 genome.wustl.edu 37 19 9062878 9062878 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 9062878 9062878 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24568 p.S8190G 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 108 0 0 81 17 17.3469 CACNB4 0 genome.wustl.edu 37 2 152727081 152727081 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 152727081 152727081 C T SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known silent c.663 p.P221 0.267 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 54 0 0 41 4 8.88889 LY75 0 genome.wustl.edu 37 2 160676350 160676350 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 160676350 160676350 T G SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.4040 p.K1347T 0.001 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 122 0 0 76 6 7.31707 CSRNP3 0 genome.wustl.edu 37 2 166536175 166536175 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 166536175 166536175 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1670 p.P557L 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 165 0 0 153 9 5.55556 SCN7A 0 genome.wustl.edu 37 2 167334146 167334146 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 167334146 167334146 T G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.61 p.I21L 0.467 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 21 0 0 14 8 36.3636 LRP2 0 genome.wustl.edu 37 2 170034354 170034354 + Missense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 170034354 170034354 G T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10352 p.P3451Q 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 417 1 0.239234 252 59 18.9711 TTN 0 genome.wustl.edu 37 2 179583903 179583903 + Silent SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 179583903 179583903 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.20482 p.L6828 0.952 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-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 120 0 0 72 15 17.2414 ZSWIM2 0 genome.wustl.edu 37 2 187693166 187693166 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 187693166 187693166 A C SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known missense c.1447 p.L483V 0.002 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 45 0 0 28 5 15.1515 TMEFF2 0 genome.wustl.edu 37 2 192815182 192815182 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 192815182 192815182 A C SNP TMEFF2 ENST00000392314 human ensembl 74_37 -1 novel missense c.1037 p.L346R 0.914 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 63 0 0 38 7 15.5556 SUPT7L 0 genome.wustl.edu 37 2 27878399 27878399 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 27878399 27878399 G A SNP SUPT7L ENST00000337768 human ensembl 74_37 -1 known missense c.815 p.P272L 1.000 NULL pfam_BTP,smart_BTP - no_errors SUPT7L HGNC ENSG00000119760 128 0 0 63 11 14.8649 TACR1 0 genome.wustl.edu 37 2 75276845 75276845 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 2 75276845 75276845 C T SNP TACR1 ENST00000305249 human ensembl 74_37 -1 known missense c.938 p.R313H 1.000 prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 54 0 0 30 4 11.7647 BRWD1 0 genome.wustl.edu 37 21 40608669 40608669 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 21 40608669 40608669 C T SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.2618 p.G873D 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 136 0 0 80 18 18.3673 ZBTB20 0 genome.wustl.edu 37 3 114069713 114069713 + Silent SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 114069713 114069713 A C SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.1212 p.A404 0.015 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 118 0 0 78 14 15.2174 FNDC3B 0 genome.wustl.edu 37 3 171965423 171965423 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 171965423 171965423 A G SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.365 p.H122R 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 224 0 0 147 46 23.8342 KCNMB2 0 genome.wustl.edu 37 3 178560470 178560470 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 178560470 178560470 T G SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.453 p.N151K 0.997 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 129 0 0 80 22 21.5686 SATB1 0 genome.wustl.edu 37 3 18457585 18457585 + Silent SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 18457585 18457585 A C SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known silent c.429 p.S143 0.997 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 92 0 0 74 13 14.9425 MB21D2 0 genome.wustl.edu 37 3 192516834 192516834 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 192516834 192516834 A C SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.817 p.L273V 0.644 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 44 0 0 30 4 11.7647 MUC4 0 genome.wustl.edu 37 3 195474111 195474111 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 195474111 195474111 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.16175 p.R5392H 0.215 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 121 0 0 74 16 17.7778 DNAH1 0 genome.wustl.edu 37 3 52428625 52428625 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 52428625 52428625 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.10771 p.V3591M 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 88 0 0 56 17 23.2877 ADAMTS9 0 genome.wustl.edu 37 3 64635379 64635379 + Silent SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 64635379 64635379 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known silent c.1539 p.I513 0.995 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 90 0 0 58 19 24.6753 FAT4 0 genome.wustl.edu 37 4 126336146 126336146 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 4 126336146 126336146 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.6028 p.S2010G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,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 313 0 0 165 50 23.2558 SLIT2 0 genome.wustl.edu 37 4 20521042 20521042 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 4 20521042 20521042 A G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1096 p.S366G 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 70 0 0 45 6 11.7647 TMPRSS11A 0 genome.wustl.edu 37 4 68780403 68780403 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 4 68780403 68780403 C T SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known missense c.1007 p.S336N 0.978 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 171 0 0 78 24 23.5294 ADAMTS3 0 genome.wustl.edu 37 4 73169658 73169658 + Silent SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 4 73169658 73169658 A T SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.2400 p.P800 0.166 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 173 0 0 108 34 23.9437 THAP6 0 genome.wustl.edu 37 4 76442037 76442037 + Missense_Mutation SNP G G C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 4 76442037 76442037 G C SNP THAP6 ENST00000311638 human ensembl 74_37 +1 known missense c.136 p.D46H 1.000 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP6 HGNC ENSG00000174796 84 0 0 48 18 27.2727 THAP9 0 genome.wustl.edu 37 4 83822021 83822021 + Silent SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 4 83822021 83822021 C A SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known silent c.66 p.G22 1.000 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 112 0 0 110 43 28.1046 UNC5C 0 genome.wustl.edu 37 4 96140365 96140365 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 4 96140365 96140365 T C SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1400 p.N467S 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 553 1 0.180505 353 97 21.5556 MCC 0 genome.wustl.edu 37 5 112478959 112478959 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 112478959 112478959 C T SNP MCC ENST00000302475 human ensembl 74_37 -1 known silent c.270 p.A90 0.002 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 70 0 0 24 24 50 PCDHA6 0 genome.wustl.edu 37 5 140208881 140208881 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 140208881 140208881 A G SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1205 p.K402R 0.742 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 367 0 0 267 51 16.0377 JAKMIP2 0 genome.wustl.edu 37 5 147040689 147040689 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 147040689 147040689 A G SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.449 p.L150P 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 274 1 0.363636 168 40 19.2308 SPINK5 0 genome.wustl.edu 37 5 147480060 147480060 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 147480060 147480060 T C SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.1136 p.L379P 0.016 smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 109 0 0 74 7 8.64198 FOXI1 0 genome.wustl.edu 37 5 169535259 169535259 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 169535259 169535259 A G SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.781 p.T261A 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 134 0 0 73 23 23.9583 ADAMTS12 0 genome.wustl.edu 37 5 33588882 33588882 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 33588882 33588882 G A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2687 p.A896V 0.010 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 83 0 0 112 14 11.1111 UGT3A1 0 genome.wustl.edu 37 5 35991293 35991293 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 35991293 35991293 A G SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.50 p.V17A 0.006 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 198 1 0.502513 212 23 9.78723 NUP155 0 genome.wustl.edu 37 5 37292998 37292998 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 37292998 37292998 T G SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.4020 p.Q1340H 0.999 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 185 0 0 177 36 16.9014 DAB2 0 genome.wustl.edu 37 5 39381699 39381699 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 39381699 39381699 A C SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.1361 p.L454R 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 141 0 0 168 21 11.1111 C7 0 genome.wustl.edu 37 5 40950063 40950063 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 40950063 40950063 A C SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.1040 p.K347T 0.000 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 25 0 0 24 2 7.69231 IPO11 0 genome.wustl.edu 37 5 61747732 61747732 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 61747732 61747732 T G SNP IPO11 ENST00000409296 human ensembl 74_37 +1 known missense c.608 p.L203R 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 122 0 0 76 22 22.449 ADCY2 0 genome.wustl.edu 37 5 7698445 7698445 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 5 7698445 7698445 A C SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1067 p.K356T 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 208 0 0 139 29 17.2619 MICAL1 0 genome.wustl.edu 37 6 109766483 109766483 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 109766483 109766483 C T SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.2855 p.R952Q 1.000 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 63 0 0 66 13 16.4557 SLC35F1 0 genome.wustl.edu 37 6 118556704 118556704 + Silent SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 118556704 118556704 A C SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known silent c.382 p.R128 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 111 0 0 68 13 16.0494 BCLAF1 0 genome.wustl.edu 37 6 136599544 136599544 + Nonsense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 136599544 136599544 G A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known nonsense c.475 p.R159* 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 405 0 0 369 33 8.20896 UTRN 0 genome.wustl.edu 37 6 144844177 144844177 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 144844177 144844177 T G SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.5759 p.L1920R 0.975 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 74 0 0 51 9 15 SYNE1 0 genome.wustl.edu 37 6 152809633 152809633 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 152809633 152809633 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.945 p.E315D 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 52 0 0 28 5 15.1515 HIST1H1E 0 genome.wustl.edu 37 6 26156698 26156698 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 26156698 26156698 C T SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.80 p.S27F 0.713 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 116 0 0 180 19 9.54774 C6orf25 0 genome.wustl.edu 37 6 31691171 31691171 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 31691171 31691171 T C SNP C6orf25 ENST00000375806 human ensembl 74_37 +1 known missense c.11 p.F4S 0.967 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 44 0 0 37 8 17.7778 CDYL 0 genome.wustl.edu 37 6 4892402 4892402 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 4892402 4892402 C T SNP CDYL ENST00000328908 human ensembl 74_37 +1 known silent c.642 p.S214 0.016 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 69 0 0 57 12 17.3913 TINAG 0 genome.wustl.edu 37 6 54191625 54191625 + Missense_Mutation SNP T T A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 54191625 54191625 T A SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.535 p.F179I 0.983 NULL pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 66 0 0 31 14 31.1111 HMGCLL1 0 genome.wustl.edu 37 6 55406891 55406891 + Missense_Mutation SNP T T A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 55406891 55406891 T A SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.246 p.E82D 1.000 pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 49 0 0 20 6 23.0769 BAI3 0 genome.wustl.edu 37 6 70042852 70042852 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 70042852 70042852 T C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3140 p.L1047P 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 55 0 0 35 9 20.4545 C6orf165 0 genome.wustl.edu 37 6 88173942 88173942 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 88173942 88173942 T G SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.1843 p.L615V 1.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 38 0 0 40 8 16.6667 MMS22L 0 genome.wustl.edu 37 6 97626443 97626443 + Missense_Mutation SNP T T A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 6 97626443 97626443 T A SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.2555 p.Q852L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 52 0 0 33 8 19.5122 DOCK4 0 genome.wustl.edu 37 7 111640575 111640575 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 111640575 111640575 A G SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.136 p.F46L 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 12 0 0 5 3 37.5 THSD7A 0 genome.wustl.edu 37 7 11676525 11676525 + Nonsense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 11676525 11676525 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known nonsense c.254 p.W85* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 175 0 0 151 27 15.1685 PTPRN2 0 genome.wustl.edu 37 7 157931083 157931083 + Missense_Mutation SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 157931083 157931083 A T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1104 p.H368Q 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 148 0 0 60 26 30.2326 IGF2BP3 0 genome.wustl.edu 37 7 23353231 23353231 + Silent SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 23353231 23353231 A G SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known silent c.1437 p.F479 1.000 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 106 0 0 80 6 6.97674 CCDC129 0 genome.wustl.edu 37 7 31682809 31682809 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 31682809 31682809 T G SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.1903 p.F635V 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 154 0 0 131 23 14.9351 GLI3 0 genome.wustl.edu 37 7 42005998 42005998 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 42005998 42005998 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2673 p.V891 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 66 0 0 34 8 19.0476 ERV3-1 0 genome.wustl.edu 37 7 64452191 64452191 + Missense_Mutation SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 64452191 64452191 A T SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.1214 p.L405H 0.480 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 64 0 0 41 11 21.1538 DLX5 0 genome.wustl.edu 37 7 96651605 96651605 + Nonsense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 96651605 96651605 A C SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known nonsense c.432 p.Y144* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 191 0 0 108 39 26.5306 LOC101927550 0 genome.wustl.edu 37 7 98630646 98630646 + RNA SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 7 98630646 98630646 G A SNP LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 17 0 0 13 5 27.7778 RP1L1 0 genome.wustl.edu 37 8 10466216 10466216 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 10466216 10466216 T G SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.5392 p.S1798R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 357 0 0 271 38 12.2977 RIMS2 0 genome.wustl.edu 37 8 105263871 105263871 + Silent SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 105263871 105263871 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.3873 p.S1291 0.998 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 193 0 0 165 31 15.8163 ANGPT1 0 genome.wustl.edu 37 8 108264166 108264166 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 108264166 108264166 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.1414 p.N472D 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 193 0 0 185 39 17.4107 ZNF34 0 genome.wustl.edu 37 8 145998889 145998889 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 145998889 145998889 T C SNP ZNF34 ENST00000343459 human ensembl 74_37 -1 known missense c.1445 p.K482R 0.986 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 120 0 0 112 18 13.8462 TUSC3 0 genome.wustl.edu 37 8 15480646 15480646 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 15480646 15480646 T G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.196 p.F66V 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 100 0 0 84 15 15.1515 CSMD1 0 genome.wustl.edu 37 8 2823471 2823471 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 2823471 2823471 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9109 p.S3037R 0.995 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 24 0 0 16 10 38.4615 CHD7 0 genome.wustl.edu 37 8 61655158 61655158 + Silent SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 61655158 61655158 T G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.1167 p.T389 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 147 0 0 105 28 21.0526 CYP7B1 0 genome.wustl.edu 37 8 65527645 65527645 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 65527645 65527645 T G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.995 p.K332T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 82 0 0 64 9 12.3288 KCNB2 0 genome.wustl.edu 37 8 73848300 73848300 + Missense_Mutation SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 73848300 73848300 A T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.710 p.E237V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 157 0 0 116 20 14.7059 ZFHX4 0 genome.wustl.edu 37 8 77616403 77616403 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 77616403 77616403 T C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.80 p.L27P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 62 0 0 34 8 19.0476 TMEM55A 0 genome.wustl.edu 37 8 92030645 92030645 + Silent SNP C C G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 8 92030645 92030645 C G SNP TMEM55A ENST00000285419 human ensembl 74_37 -1 known silent c.459 p.V153 0.965 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC ENSG00000155099 225 0 0 143 16 10.0629 ALAD 0 genome.wustl.edu 37 9 116155727 116155727 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 9 116155727 116155727 G A SNP ALAD ENST00000409155 human ensembl 74_37 -1 known missense c.113 p.T38M 1.000 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 112 0 0 83 16 16.1616 BRINP1 0 genome.wustl.edu 37 9 121976287 121976287 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 9 121976287 121976287 A G SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.832 p.C278R 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 165 0 0 85 38 30.8943 LHX3 0 genome.wustl.edu 37 9 139091542 139091542 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 9 139091542 139091542 C T SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known missense c.451 p.E151K 1.000 pfam_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 71 0 0 61 7 10.2941 DENND4C 0 genome.wustl.edu 37 9 19346825 19346825 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 9 19346825 19346825 A C SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.3911 p.K1304T 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 152 0 0 111 20 15.2672 PTPRD 0 genome.wustl.edu 37 9 8341129 8341129 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 9 8341129 8341129 C A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5087 p.G1696V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 196 0 0 146 27 15.6069 PTPRD 0 genome.wustl.edu 37 9 8341954 8341954 + Nonsense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 9 8341954 8341954 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known nonsense c.4686 p.C1562* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 45 0 0 38 5 11.6279 NRK 0 genome.wustl.edu 37 X 105132295 105132295 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 105132295 105132295 A C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.261 p.E87D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 13 0 0 7 3 30 NRK 0 genome.wustl.edu 37 X 105189886 105189886 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 105189886 105189886 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.4085 p.D1362G 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 62 0 0 36 19 34.5455 TBC1D8B 0 genome.wustl.edu 37 X 106110054 106110054 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 106110054 106110054 A G SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.2690 p.E897G 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 104 0 0 96 10 9.43396 RGAG1 0 genome.wustl.edu 37 X 109695009 109695009 + Silent SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 109695009 109695009 G T SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.1164 p.P388 0.000 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 265 1 0.37594 220 85 27.8689 TLR8 0 genome.wustl.edu 37 X 12940244 12940244 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 12940244 12940244 C T SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.3085 p.R1029W 0.038 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 148 0 0 75 118 61.1399 CDR1 0 genome.wustl.edu 37 X 139866175 139866175 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 139866175 139866175 T G SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known missense c.357 p.E119D 0.256 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 138 0 0 85 25 22.7273 MAGEC1 0 genome.wustl.edu 37 X 140995251 140995251 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 140995251 140995251 T G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.2061 p.D687E 0.336 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 98 0 0 39 53 57.6087 MAGEC2 0 genome.wustl.edu 37 X 141290853 141290853 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 141290853 141290853 T C SNP MAGEC2 ENST00000247452 human ensembl 74_37 -1 known silent c.921 p.S307 0.237 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 116 0 0 59 22 27.1605 MAGEA11 0 genome.wustl.edu 37 X 148797474 148797474 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 148797474 148797474 A G SNP MAGEA11 ENST00000355220 human ensembl 74_37 +1 known missense c.328 p.I110V 0.001 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 97 0 0 46 75 61.9835 MAGEB6 0 genome.wustl.edu 37 X 26212865 26212865 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 26212865 26212865 G A SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.902 p.C301Y 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 197 0 0 256 66 20.4969 DMD 0 genome.wustl.edu 37 X 32430014 32430014 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 32430014 32430014 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.4088 p.K1363T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 45 0 0 30 20 40 SUV39H1 0 genome.wustl.edu 37 X 48558721 48558721 + Silent SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 48558721 48558721 C A SNP SUV39H1 ENST00000337852 human ensembl 74_37 +1 known silent c.438 p.L146 1.000 smart_Pre-SET_Zn-bd_sub,pirsf_Histone_H3-K9_MeTrfase pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC ENSG00000101945 37 0 0 35 2 5.40541 PHKA1 0 genome.wustl.edu 37 X 71932621 71932621 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 X 71932621 71932621 C A SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.237 p.Q79H 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 30 0 0 26 2 7.14286 SPTBN2 0 genome.wustl.edu 37 11 66468026 66468026 + Frame_Shift_Del DEL G G - TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 11 66468026 66468026 G - DEL SPTBN2 ENST00000309996 human ensembl 74_37 -1 known frame_shift_del c.3544 p.R1182fs 0.996 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 102 0 0 61 19 23.75 TP53 0 genome.wustl.edu 37 17 7577090 7577096 + Frame_Shift_Del DEL CGCCGGT CGCCGGT - TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 CGCCGGT CGCCGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 17 7577090 7577096 CGCCGGT - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.848_842 p.D281fs 0.188:0.188:0.030:0.995:0.997:0.993:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 67 0 0 25 15 37.5 UHRF1 0 genome.wustl.edu 37 19 4960949 4960949 + RNA DEL T T - TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 19 4960949 4960949 T - DEL UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.404 - - - no_errors UHRF1 HGNC ENSG00000034063 9 0 0 9 2 18.1818 GOLGA4 0 genome.wustl.edu 37 3 37365106 37365107 + Frame_Shift_Ins INS - - A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 3 37365106 37365107 - A INS GOLGA4 ENST00000361924 human ensembl 74_37 +1 known frame_shift_ins c.1729_1730 p.S579fs 1.000:0.993 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 49 0 0 25 10 28.5714 PPP1R26 0 genome.wustl.edu 37 9 138378915 138378916 + Frame_Shift_Del DEL GA GA - TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 9 138378915 138378916 GA - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2559_2560 p.S854fs 0.006:0.007 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 193 0 0 120 44 26.8293