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 UBE4B 0 genome.wustl.edu 37 1 10207065 10207065 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 10207065 10207065 C T SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known silent c.2508 p.D836 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 151 0 0 93 84 47.4576 AMY2A 0 genome.wustl.edu 37 1 104160223 104160223 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 104160223 104160223 G A SNP AMY2A ENST00000414303 human ensembl 74_37 +1 known missense c.161 p.G54E 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 462 0 0 320 136 29.8246 CORT 0 genome.wustl.edu 37 1 10510294 10510294 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 10510294 10510294 C A SNP CORT ENST00000320498 human ensembl 74_37 +1 known missense c.164 p.P55H 0.000 NULL pfam_Somatostatin/Cortistatin_C - no_errors CORT HGNC ENSG00000241563 128 0 0 93 13 12.2642 CELSR2 0 genome.wustl.edu 37 1 109813153 109813153 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 109813153 109813153 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.7414 p.R2472C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 74 0 0 105 6 5.40541 KCNA2 0 genome.wustl.edu 37 1 111147202 111147202 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 111147202 111147202 T A SNP KCNA2 ENST00000316361 human ensembl 74_37 -1 known missense c.203 p.Y68F 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 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_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 230 0 0 127 75 37.1287 KCNA3 0 genome.wustl.edu 37 1 111216300 111216300 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 111216300 111216300 A G SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.1132 p.S378P 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 139 0 0 96 56 36.8421 KCNA3 0 genome.wustl.edu 37 1 111216362 111216362 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 111216362 111216362 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.1070 p.A357V 1.000 pfam_Ion_trans_dom 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 147 0 0 83 63 43.1507 DRAM2 0 genome.wustl.edu 37 1 111667451 111667451 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 111667451 111667451 T C SNP DRAM2 ENST00000286692 human ensembl 74_37 -1 known silent c.252 p.E84 0.998 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM2 HGNC ENSG00000156171 145 1 0.684932 72 50 40.9836 MOV10 0 genome.wustl.edu 37 1 113238854 113238854 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 113238854 113238854 A G SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.1864 p.T622A 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 26 0 0 29 2 6.45161 RSBN1 0 genome.wustl.edu 37 1 114308955 114308955 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 114308955 114308955 A G SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.2056 p.F686L 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 290 0 0 162 119 42.3488 DCLRE1B 0 genome.wustl.edu 37 1 114454003 114454003 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 114454003 114454003 C T SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known silent c.789 p.S263 0.007 pfam_DRMBL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 186 0 0 106 73 40.7821 HIPK1 0 genome.wustl.edu 37 1 114516066 114516066 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 114516066 114516066 C T SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known nonsense c.3565 p.R1189* 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 HIPK1 HGNC ENSG00000163349 274 0 0 149 102 40.6375 PTCHD2 0 genome.wustl.edu 37 1 11580806 11580806 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 11580806 11580806 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2263 p.R755W 1.000 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 48 0 0 28 22 44 FBXO6 0 genome.wustl.edu 37 1 11728893 11728893 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 11728893 11728893 C T SNP FBXO6 ENST00000376753 human ensembl 74_37 +1 known nonsense c.178 p.R60* 0.934 superfamily_F-box_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO6 HGNC ENSG00000116663 82 0 0 54 36 40 HMGCS2 0 genome.wustl.edu 37 1 120298076 120298076 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 120298076 120298076 G A SNP HMGCS2 ENST00000369406 human ensembl 74_37 -1 known silent c.1161 p.Y387 0.931 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 464 1 0.215054 303 211 41.0506 TNFRSF8 0 genome.wustl.edu 37 1 12202468 12202468 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 12202468 12202468 T C SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known silent c.1668 p.H556 0.865 prints_TNFR_8 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 9 0 0 8 10 55.5556 PLEKHO1 0 genome.wustl.edu 37 1 150131589 150131589 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 150131589 150131589 C T SNP PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known silent c.999 p.S333 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 43 0 0 32 9 21.9512 ADAMTSL4 0 genome.wustl.edu 37 1 150528719 150528719 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 150528719 150528719 C T SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.1522 p.R508C 0.521 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 159 0 0 104 65 38.4615 PIP5K1A 0 genome.wustl.edu 37 1 151219440 151219440 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 151219440 151219440 A G SNP PIP5K1A ENST00000368888 human ensembl 74_37 +1 known missense c.1685 p.H562R 0.811 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 144 0 0 138 23 14.2857 TUFT1 0 genome.wustl.edu 37 1 151538676 151538676 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 151538676 151538676 C A SNP TUFT1 ENST00000538902 human ensembl 74_37 +1 known missense c.509 p.P170H 0.009 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 30 0 0 22 16 42.1053 HRNR 0 genome.wustl.edu 37 1 152191000 152191000 + Silent SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 152191000 152191000 T G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.3105 p.S1035 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 275 0 0 170 61 26.4069 S100A3 0 genome.wustl.edu 37 1 153520175 153520175 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 153520175 153520175 G A SNP S100A3 ENST00000368712 human ensembl 74_37 -1 known missense c.289 p.P97S 0.351 NULL pfam_S100_Ca-bd_sub - no_errors S100A3 HGNC ENSG00000188015 103 0 0 71 53 42.7419 S100A16 0 genome.wustl.edu 37 1 153580513 153580513 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 153580513 153580513 G A SNP S100A16 ENST00000368703 human ensembl 74_37 -1 known missense c.115 p.R39C 1.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A16 HGNC ENSG00000188643 91 0 0 57 50 46.729 INTS3 0 genome.wustl.edu 37 1 153732081 153732081 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 153732081 153732081 T C SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.1229 p.M410T 1.000 pfam_Int_cplx_su3 pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 210 0 0 163 81 33.1967 ATP8B2 0 genome.wustl.edu 37 1 154302881 154302881 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 154302881 154302881 G T SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.140 p.R47M 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 79 0 0 69 21 23.3333 PBXIP1 0 genome.wustl.edu 37 1 154924376 154924376 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 154924376 154924376 C A SNP PBXIP1 ENST00000490230 human ensembl 74_37 -1 known missense c.73 p.G25C 1.000 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 151 0 0 89 69 43.6709 GBA 0 genome.wustl.edu 37 1 155209427 155209427 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 155209427 155209427 T C SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.434 p.K145R 0.961 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 92 0 0 55 31 36.0465 CLK2 0 genome.wustl.edu 37 1 155233743 155233743 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 155233743 155233743 G A SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.1315 p.R439W 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_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 CLK2 HGNC ENSG00000176444 147 0 0 171 27 13.6364 CLK2 0 genome.wustl.edu 37 1 155234303 155234303 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 155234303 155234303 C A SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.1102 p.G368C 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK2 HGNC ENSG00000176444 59 0 0 50 13 20.6349 MIB2 0 genome.wustl.edu 37 1 1559291 1559291 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 1559291 1559291 G A SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.730 p.A244T 1.000 smart_Znf_ZZ,pfscan_Znf_ZZ pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 18 0 0 16 10 38.4615 CCT3 0 genome.wustl.edu 37 1 156286984 156286984 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 156286984 156286984 C A SNP CCT3 ENST00000295688 human ensembl 74_37 -1 known missense c.947 p.R316L 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 190 0 0 109 82 42.9319 MRPL24 0 genome.wustl.edu 37 1 156707482 156707482 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 156707482 156707482 G T SNP MRPL24 ENST00000361531 human ensembl 74_37 -1 known missense c.470 p.P157H 1.000 NULL pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 162 0 0 132 17 11.4094 CTRC 0 genome.wustl.edu 37 1 15771162 15771162 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 15771162 15771162 G A SNP CTRC ENST00000375949 human ensembl 74_37 +1 known silent c.555 p.T185 0.011 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTRC HGNC ENSG00000162438 80 0 0 45 27 37.5 SPTA1 0 genome.wustl.edu 37 1 158639307 158639307 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 158639307 158639307 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1724 p.R575H 0.815 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 342 0 0 222 126 36.2069 PYHIN1 0 genome.wustl.edu 37 1 158911972 158911972 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 158911972 158911972 A G SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.785 p.K262R 0.001 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 110 0 0 66 46 41.0714 OR10J3 0 genome.wustl.edu 37 1 159284045 159284045 + Silent SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 159284045 159284045 G T SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known silent c.405 p.V135 0.074 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 OR10J3 HGNC ENSG00000196266 130 0 0 133 8 5.67376 ITLN1 0 genome.wustl.edu 37 1 160851038 160851038 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 160851038 160851038 G T SNP ITLN1 ENST00000326245 human ensembl 74_37 -1 known missense c.470 p.P157H 0.369 superfamily_Fibrinogen_a/b/g_C_dom superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN1 HGNC ENSG00000179914 158 0 0 110 50 31.25 FBLIM1 0 genome.wustl.edu 37 1 16091539 16091539 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 16091539 16091539 C T SNP FBLIM1 ENST00000441801 human ensembl 74_37 +1 known missense c.61 p.R21C 0.552 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 123 0 0 77 60 43.7956 NR1I3 0 genome.wustl.edu 37 1 161199504 161199504 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 161199504 161199504 G A SNP NR1I3 ENST00000428574 human ensembl 74_37 -1 known missense c.991 p.P331S 0.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR1I3 HGNC ENSG00000143257 124 0 0 79 56 41.4815 FCRLB 0 genome.wustl.edu 37 1 161695678 161695678 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 161695678 161695678 C T SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known silent c.375 p.R125 0.994 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 61 0 0 30 7 18.9189 FCRLB 0 genome.wustl.edu 37 1 161697204 161697204 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 161697204 161697204 G A SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known missense c.1033 p.G345S 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 52 0 0 34 6 15 EPHA2 0 genome.wustl.edu 37 1 16458656 16458656 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 16458656 16458656 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.2228 p.R743H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 149 0 0 142 22 13.4146 TADA1 0 genome.wustl.edu 37 1 166827446 166827446 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 166827446 166827446 C T SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known silent c.765 p.Q255 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 110 0 0 94 55 36.9128 GPA33 0 genome.wustl.edu 37 1 167038309 167038309 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 167038309 167038309 C T SNP GPA33 ENST00000367868 human ensembl 74_37 -1 known missense c.265 p.V89I 0.038 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors GPA33 HGNC ENSG00000143167 82 0 0 62 41 39.8058 ESPNP 0 genome.wustl.edu 37 1 17030539 17030539 + RNA SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 17030539 17030539 T A SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors ESPNP HGNC ENSG00000268869 108 0 0 85 24 22.0183 SERPINC1 0 genome.wustl.edu 37 1 173881070 173881070 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 173881070 173881070 C T SNP SERPINC1 ENST00000367698 human ensembl 74_37 -1 known missense c.491 p.R164Q 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC ENSG00000117601 255 0 0 161 102 38.7833 TOR3A 0 genome.wustl.edu 37 1 179063240 179063240 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 179063240 179063240 C T SNP TOR3A ENST00000367627 human ensembl 74_37 +1 known silent c.831 p.G277 0.990 superfamily_P-loop_NTPase pfam_Torsin,superfamily_P-loop_NTPase - no_errors TOR3A HGNC ENSG00000186283 158 0 0 93 38 29.0076 TOR1AIP1 0 genome.wustl.edu 37 1 179852002 179852002 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 179852002 179852002 T C SNP TOR1AIP1 ENST00000528443 human ensembl 74_37 +1 known missense c.365 p.M122T 0.951 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 54 0 0 36 26 41.9355 CACNA1E 0 genome.wustl.edu 37 1 181702035 181702035 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 181702035 181702035 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.2813 p.R938Q 0.331 prints_VDCC_R_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 84 0 0 89 10 10.101 ZNF648 0 genome.wustl.edu 37 1 182026619 182026619 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 182026619 182026619 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.527 p.A176V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 73 0 0 66 4 5.71429 RGS8 0 genome.wustl.edu 37 1 182638780 182638780 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 182638780 182638780 G A SNP RGS8 ENST00000367556 human ensembl 74_37 -1 known missense c.5 p.A2V 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS8 HGNC ENSG00000135824 128 0 0 85 74 46.5409 HMCN1 0 genome.wustl.edu 37 1 185986140 185986140 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 185986140 185986140 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.5237 p.V1746A 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 223 1 0.446429 206 32 13.4454 HMCN1 0 genome.wustl.edu 37 1 186114659 186114659 + Silent SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 186114659 186114659 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.14391 p.G4797 0.993 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 73 0 0 44 29 39.726 TPR 0 genome.wustl.edu 37 1 186325512 186325512 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 186325512 186325512 C T SNP TPR ENST00000367478 human ensembl 74_37 -1 known silent c.1794 p.Q598 0.021 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 52 0 0 29 23 44.2308 IGSF21 0 genome.wustl.edu 37 1 18661448 18661448 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 18661448 18661448 G A SNP IGSF21 ENST00000251296 human ensembl 74_37 +1 known missense c.368 p.R123H 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF21 HGNC ENSG00000117154 55 0 0 58 4 6.45161 KLHDC7A 0 genome.wustl.edu 37 1 18809556 18809556 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 18809556 18809556 G A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.2081 p.R694H 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 75 0 0 48 22 31.4286 ZNF281 0 genome.wustl.edu 37 1 200377574 200377574 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 200377574 200377574 G A SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known silent c.1260 p.T420 0.978 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 296 0 0 166 118 41.5493 NAV1 0 genome.wustl.edu 37 1 201750154 201750154 + Silent SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 201750154 201750154 A C SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known silent c.1380 p.S460 0.473 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 68 0 0 73 6 7.59494 CNTN2 0 genome.wustl.edu 37 1 205039153 205039153 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 205039153 205039153 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.2395 p.E799K 0.986 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 48 0 0 23 18 43.9024 KIF17 0 genome.wustl.edu 37 1 21016738 21016738 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 21016738 21016738 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.1324 p.R442C 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 86 0 0 58 35 37.6344 SH2D5 0 genome.wustl.edu 37 1 21048381 21048381 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 21048381 21048381 G A SNP SH2D5 ENST00000444387 human ensembl 74_37 -1 known silent c.1176 p.Y392 0.571 pfscan_SH2 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 22 0 0 25 10 28.5714 RCOR3 0 genome.wustl.edu 37 1 211469082 211469082 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 211469082 211469082 T A SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.830 p.F277Y 1.000 superfamily_Homeodomain-like pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 103 0 0 75 41 35.3448 INTS7 0 genome.wustl.edu 37 1 212180670 212180670 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 212180670 212180670 C T SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known silent c.531 p.P177 0.035 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 103 0 0 57 37 39.3617 PROX1 0 genome.wustl.edu 37 1 214170355 214170355 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 214170355 214170355 T A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.477 p.D159E 0.936 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 127 0 0 82 62 43.0556 PTPN14 0 genome.wustl.edu 37 1 214705800 214705800 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 214705800 214705800 C T SNP PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.988 - - - no_errors PTPN14 HGNC ENSG00000152104 44 0 0 29 13 30.9524 DISP1 0 genome.wustl.edu 37 1 223177115 223177115 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 223177115 223177115 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.2376 p.G792 0.201 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 88 0 0 35 26 42.623 SKI 0 genome.wustl.edu 37 1 2234752 2234752 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 2234752 2234752 G A SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.1124 p.R375H 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 263 0 0 199 129 39.3293 LEFTY2 0 genome.wustl.edu 37 1 226127115 226127115 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 226127115 226127115 G A SNP LEFTY2 ENST00000366820 human ensembl 74_37 -1 known missense c.683 p.A228V 0.000 pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 25 0 0 9 5 35.7143 ADCK3 0 genome.wustl.edu 37 1 227152949 227152949 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 227152949 227152949 C T SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known silent c.426 p.N142 0.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 67 0 0 30 21 41.1765 PRSS38 0 genome.wustl.edu 37 1 228003897 228003897 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 228003897 228003897 C T SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known silent c.255 p.C85 0.564 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 103 0 0 100 6 5.66038 PRSS38 0 genome.wustl.edu 37 1 228033279 228033279 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 228033279 228033279 C A SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known missense c.692 p.A231D 0.994 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 70 0 0 74 4 5.12821 WNT9A 0 genome.wustl.edu 37 1 228109597 228109597 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 228109597 228109597 G A SNP WNT9A ENST00000272164 human ensembl 74_37 -1 known silent c.720 p.G240 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 97 0 0 105 20 16 OBSCN 0 genome.wustl.edu 37 1 228466970 228466970 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 228466970 228466970 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.7221 p.V2407 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 83 0 0 89 14 13.5922 OBSCN 0 genome.wustl.edu 37 1 228504492 228504492 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 228504492 228504492 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.13368 p.S4456 0.393 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 19 0 0 12 9 42.8571 EPHA8 0 genome.wustl.edu 37 1 22927816 22927816 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 22927816 22927816 G A SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2753 p.R918Q 0.855 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 71 0 0 92 15 14.0187 EPHB2 0 genome.wustl.edu 37 1 23233308 23233308 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 23233308 23233308 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.1994 p.R665Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 68 0 0 65 22 25.2874 LYST 0 genome.wustl.edu 37 1 235887386 235887386 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 235887386 235887386 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.9257 p.A3086D 1.000 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 144 0 0 174 30 14.7059 NID1 0 genome.wustl.edu 37 1 236144978 236144978 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 236144978 236144978 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known nonsense c.3160 p.Q1054* 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 137 0 0 79 70 46.9799 LOC100130331 0 genome.wustl.edu 37 1 238090546 238090546 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 238090546 238090546 G A SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 53 0 0 32 14 30.4348 CEP170 0 genome.wustl.edu 37 1 243349251 243349251 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 243349251 243349251 T G SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.1396 p.S466R 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 188 0 0 113 70 38.2514 NLRP3 0 genome.wustl.edu 37 1 247588075 247588075 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 247588075 247588075 G A SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1330 p.V444I 0.000 pfscan_NACHT_NTPase 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 NLRP3 HGNC ENSG00000162711 93 0 0 62 36 36.7347 TRIM58 0 genome.wustl.edu 37 1 248039478 248039478 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 248039478 248039478 C A SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.1148 p.A383D 0.994 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 181 0 0 130 70 35 TRIM58 0 genome.wustl.edu 37 1 248039617 248039617 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 248039617 248039617 T C SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.1287 p.D429 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 476 0 0 315 179 36.2348 OR2L8 0 genome.wustl.edu 37 1 248112583 248112583 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 248112583 248112583 C T SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known silent c.424 p.L142 0.000 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 OR2L8 HGNC ENSG00000196936 400 0 0 332 55 14.2119 OR2T3 0 genome.wustl.edu 37 1 248637306 248637306 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 248637306 248637306 A G SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.655 p.I219V 0.518 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T3 HGNC ENSG00000196539 212 0 0 33 134 80.2395 RHD 0 genome.wustl.edu 37 1 25611170 25611170 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 25611170 25611170 G A SNP RHD ENST00000328664 human ensembl 74_37 +1 known silent c.255 p.A85 0.875 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 94 0 0 93 24 20.5128 MAP3K6 0 genome.wustl.edu 37 1 27682908 27682908 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 27682908 27682908 C T SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.3608 p.R1203Q 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 29 0 0 16 11 40.7407 AHDC1 0 genome.wustl.edu 37 1 27874133 27874133 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 27874133 27874133 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.4494 p.A1498 0.737 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 14 0 0 7 2 22.2222 PPP1R8 0 genome.wustl.edu 37 1 28176659 28176659 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 28176659 28176659 G A SNP PPP1R8 ENST00000311772 human ensembl 74_37 +1 known missense c.758 p.R253H 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC ENSG00000117751 441 0 0 310 202 39.4531 PTAFR 0 genome.wustl.edu 37 1 28476914 28476914 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 28476914 28476914 G T SNP PTAFR ENST00000305392 human ensembl 74_37 -1 known missense c.619 p.L207M 0.038 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn - no_errors PTAFR HGNC ENSG00000169403 34 0 0 33 20 37.7358 PTPRU 0 genome.wustl.edu 37 1 29644308 29644308 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 29644308 29644308 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3592 p.A1198T 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 78 0 0 54 32 37.2093 PRDM16 0 genome.wustl.edu 37 1 3328339 3328339 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 3328339 3328339 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.1578 p.P526 0.244 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 115 0 0 83 51 38.0597 CSMD2 0 genome.wustl.edu 37 1 34088992 34088992 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 34088992 34088992 T C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.5700 p.V1900 0.204 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 128 0 0 100 67 40.1198 MEGF6 0 genome.wustl.edu 37 1 3428619 3428619 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 3428619 3428619 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.927 p.C309 0.913 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 87 0 0 94 15 13.7615 ZMYM6 0 genome.wustl.edu 37 1 35453279 35453279 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 35453279 35453279 G A SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.3404 p.T1135I 1.000 superfamily_RNaseH-like_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 13 0 0 7 5 41.6667 ZMYM6 0 genome.wustl.edu 37 1 35474381 35474381 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 35474381 35474381 A G SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.1637 p.M546T 1.000 smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 134 0 0 111 19 14.6154 LRRC47 0 genome.wustl.edu 37 1 3703715 3703715 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 3703715 3703715 G A SNP LRRC47 ENST00000378251 human ensembl 74_37 -1 known missense c.775 p.R259C 1.000 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 49 0 0 43 18 29.5082 HIVEP3 0 genome.wustl.edu 37 1 42049803 42049803 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 42049803 42049803 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.666 p.C222 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 99 0 0 109 7 6.03448 YBX1 0 genome.wustl.edu 37 1 43162317 43162317 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 43162317 43162317 C T SNP YBX1 ENST00000321358 human ensembl 74_37 +1 known missense c.359 p.A120V 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX1 HGNC ENSG00000065978 115 0 0 92 45 32.8467 DMAP1 0 genome.wustl.edu 37 1 44685744 44685744 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 44685744 44685744 C T SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known silent c.1107 p.S369 0.804 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 28 0 0 15 10 40 KIF2C 0 genome.wustl.edu 37 1 45216216 45216216 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 45216216 45216216 G A SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.419 p.R140H 0.903 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 121 0 0 57 71 55.4688 PTCH2 0 genome.wustl.edu 37 1 45293142 45293142 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 45293142 45293142 G A SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.2303 p.A768V 0.978 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 54 0 0 28 26 48.1481 HECTD3 0 genome.wustl.edu 37 1 45476257 45476257 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 45476257 45476257 T C SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.491 p.Q164R 1.000 NULL pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 28 0 0 20 13 39.3939 FAF1 0 genome.wustl.edu 37 1 51323599 51323599 + Splice_Site SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 51323599 51323599 A G SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known splice_site c.114+2 e2+2 1.000 - - - no_errors FAF1 HGNC ENSG00000185104 84 0 0 96 8 7.69231 PODN 0 genome.wustl.edu 37 1 53546514 53546514 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 53546514 53546514 G A SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.1771 p.D591N 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 72 0 0 35 34 49.2754 DMRTB1 0 genome.wustl.edu 37 1 53925671 53925671 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 53925671 53925671 G A SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known missense c.545 p.R182Q 0.003 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 11 0 0 12 5 29.4118 TMEM59 0 genome.wustl.edu 37 1 54506485 54506485 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 54506485 54506485 C T SNP TMEM59 ENST00000234831 human ensembl 74_37 -1 known silent c.651 p.A217 0.053 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 187 0 0 113 59 34.3023 TMEM59 0 genome.wustl.edu 37 1 54509067 54509067 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 54509067 54509067 G A SNP TMEM59 ENST00000234831 human ensembl 74_37 -1 known silent c.522 p.D174 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 130 1 0.763359 87 56 39.1608 BSND 0 genome.wustl.edu 37 1 55464986 55464986 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 55464986 55464986 G A SNP BSND ENST00000371265 human ensembl 74_37 +1 known missense c.127 p.V43I 0.273 NULL NULL - no_errors BSND HGNC ENSG00000162399 103 0 0 48 31 39.2405 NPHP4 0 genome.wustl.edu 37 1 5924420 5924420 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 5924420 5924420 C T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.3974 p.C1325Y 1.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 8 0 0 4 7 63.6364 NPHP4 0 genome.wustl.edu 37 1 5924517 5924517 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 5924517 5924517 C T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.3877 p.V1293M 0.784 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 14 0 0 9 2 18.1818 JUN 0 genome.wustl.edu 37 1 59248342 59248342 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 59248342 59248342 G T SNP JUN ENST00000371222 human ensembl 74_37 -1 known missense c.401 p.A134E 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 33 0 0 24 16 40 NPHP4 0 genome.wustl.edu 37 1 6021934 6021934 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 6021934 6021934 G A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.593 p.A198V 0.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 44 0 0 39 18 31.5789 KCNAB2 0 genome.wustl.edu 37 1 6155401 6155401 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 6155401 6155401 C A SNP KCNAB2 ENST00000378083 human ensembl 74_37 +1 known silent c.751 p.R251 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 24 0 0 28 3 9.67742 KANK4 0 genome.wustl.edu 37 1 62740642 62740642 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 62740642 62740642 T C SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.134 p.D45G 1.000 pfam_KN_motif pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 203 0 0 203 12 5.5814 FOXD3 0 genome.wustl.edu 37 1 63789164 63789164 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 63789164 63789164 G A SNP FOXD3 ENST00000371116 human ensembl 74_37 +1 known silent c.435 p.S145 0.816 pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 71 0 0 28 20 41.6667 EFCAB7 0 genome.wustl.edu 37 1 63991248 63991248 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 63991248 63991248 C T SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known missense c.5 p.A2V 0.999 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 162 0 0 106 41 27.8912 ROR1 0 genome.wustl.edu 37 1 64608333 64608333 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 64608333 64608333 G A SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.1174 p.D392N 1.000 pirsf_Tyr_kinase_rcpt_ROR,superfamily_Kringle-like,smart_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 77 0 0 48 19 28.3582 RAVER2 0 genome.wustl.edu 37 1 65243369 65243369 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 65243369 65243369 C T SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.380 p.S127F 0.978 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 253 0 0 156 104 40 THAP3 0 genome.wustl.edu 37 1 6688663 6688663 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 6688663 6688663 G A SNP THAP3 ENST00000054650 human ensembl 74_37 +1 known missense c.179 p.R60Q 0.018 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 59 0 0 37 30 44.7761 THAP3 0 genome.wustl.edu 37 1 6688716 6688716 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 6688716 6688716 G A SNP THAP3 ENST00000054650 human ensembl 74_37 +1 known missense c.232 p.V78M 0.994 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 61 0 0 27 34 55.7377 DNAJC11 0 genome.wustl.edu 37 1 6704674 6704674 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 6704674 6704674 G A SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known silent c.1041 p.S347 0.928 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 66 0 0 53 36 40.4494 SLC44A5 0 genome.wustl.edu 37 1 75681465 75681465 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 75681465 75681465 A C SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.1702 p.F568V 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 107 0 0 82 49 37.4046 FUBP1 0 genome.wustl.edu 37 1 78426155 78426155 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 78426155 78426155 G T SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known missense c.1433 p.P478H 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 35 0 0 18 9 33.3333 CCBL2 0 genome.wustl.edu 37 1 89426867 89426867 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 89426867 89426867 T A SNP CCBL2 ENST00000260508 human ensembl 74_37 -1 known missense c.770 p.N257I 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL2 HGNC ENSG00000137944 165 0 0 111 71 39.011 KLHL17 0 genome.wustl.edu 37 1 900458 900458 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 900458 900458 G A SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known missense c.1816 p.A606T 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 71 0 0 70 14 16.6667 H6PD 0 genome.wustl.edu 37 1 9305054 9305054 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 9305054 9305054 G A SNP H6PD ENST00000377403 human ensembl 74_37 +1 known missense c.61 p.E21K 0.991 NULL pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 84 0 0 67 16 19.2771 H6PD 0 genome.wustl.edu 37 1 9305488 9305488 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 9305488 9305488 C T SNP H6PD ENST00000377403 human ensembl 74_37 +1 known silent c.495 p.G165 0.299 pfam_G6P_DH_NAD-bd pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 144 0 0 81 54 40 AGRN 0 genome.wustl.edu 37 1 989347 989347 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 989347 989347 G A SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.5866 p.V1956M 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 20 0 0 13 6 31.5789 FAM178A 0 genome.wustl.edu 37 10 102676537 102676537 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 102676537 102676537 G A SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.395 p.R132H 0.016 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 144 0 0 91 74 44.8485 BTRC 0 genome.wustl.edu 37 10 103221770 103221770 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 103221770 103221770 C T SNP BTRC ENST00000370187 human ensembl 74_37 +1 known silent c.189 p.G63 1.000 NULL pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 151 0 0 109 59 35.119 MGEA5 0 genome.wustl.edu 37 10 103558790 103558790 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 103558790 103558790 G A SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known missense c.1618 p.P540S 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 359 0 0 337 30 8.17439 PSD 0 genome.wustl.edu 37 10 104164452 104164452 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 104164452 104164452 C T SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.2588 p.R863H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 156 0 0 100 74 42.5287 SFXN2 0 genome.wustl.edu 37 10 104491919 104491919 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 104491919 104491919 C T SNP SFXN2 ENST00000369893 human ensembl 74_37 +1 known missense c.665 p.A222V 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 118 0 0 84 45 34.8837 PDCD11 0 genome.wustl.edu 37 10 105172931 105172931 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 105172931 105172931 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.1037 p.R346H 0.995 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 82 0 0 64 48 42.8571 CALHM1 0 genome.wustl.edu 37 10 105215352 105215352 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 105215352 105215352 C T SNP CALHM1 ENST00000329905 human ensembl 74_37 -1 known silent c.708 p.T236 0.078 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 46 0 0 53 13 19.697 SLK 0 genome.wustl.edu 37 10 105727517 105727517 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 105727517 105727517 A T SNP SLK ENST00000369755 human ensembl 74_37 +1 known missense c.14 p.N5I 1.000 NULL pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 163 0 0 116 68 36.9565 C10orf118 0 genome.wustl.edu 37 10 115917415 115917415 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 115917415 115917415 A G SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known silent c.657 p.H219 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 102 0 0 73 38 34.2342 AFAP1L2 0 genome.wustl.edu 37 10 116057097 116057097 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 116057097 116057097 C T SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known missense c.2348 p.R783H 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 42 0 0 31 17 35.4167 VAX1 0 genome.wustl.edu 37 10 118897523 118897523 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 118897523 118897523 G A SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known silent c.45 p.D15 0.990 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 86 0 0 57 40 41.2371 PRLHR 0 genome.wustl.edu 37 10 120354266 120354266 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 120354266 120354266 A G SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.491 p.V164A 1.000 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_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 19 0 0 21 10 32.2581 TACC2 0 genome.wustl.edu 37 10 123847469 123847469 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 123847469 123847469 T C SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.5454 p.T1818 0.012 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 86 0 0 53 26 32.9114 FAM53B 0 genome.wustl.edu 37 10 126370273 126370273 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 126370273 126370273 G A SNP FAM53B ENST00000337318 human ensembl 74_37 -1 known missense c.809 p.P270L 1.000 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 26 0 0 12 9 42.8571 MKI67 0 genome.wustl.edu 37 10 129908709 129908709 + Missense_Mutation SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 129908709 129908709 C G SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.2349 p.L783F 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 215 0 0 226 12 5.04202 BNIP3 0 genome.wustl.edu 37 10 133784266 133784266 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 133784266 133784266 G A SNP BNIP3 ENST00000368636 human ensembl 74_37 -1 known missense c.415 p.R139C 1.000 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 78 0 0 71 11 13.4146 CDNF 0 genome.wustl.edu 37 10 14867476 14867476 + Splice_Site SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 14867476 14867476 A G SNP CDNF ENST00000465530 human ensembl 74_37 -1 known splice_site c.385+2 e3+2 1.000 - - - no_errors CDNF HGNC ENSG00000185267 212 0 0 126 95 42.9864 PLXDC2 0 genome.wustl.edu 37 10 20453421 20453421 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 20453421 20453421 A T SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known missense c.808 p.S270C 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 115 0 0 101 7 6.48148 NEBL 0 genome.wustl.edu 37 10 21117557 21117557 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 21117557 21117557 A G SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.1678 p.Y560H 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 53 0 0 40 18 31.0345 SVIL 0 genome.wustl.edu 37 10 29754537 29754537 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 29754537 29754537 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.6120 p.S2040 0.042 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 82 0 0 48 34 41.4634 PFKP 0 genome.wustl.edu 37 10 3143641 3143641 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 3143641 3143641 C T SNP PFKP ENST00000381125 human ensembl 74_37 +1 known nonsense c.349 p.R117* 0.107 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 14 0 0 13 9 40.9091 PITRM1 0 genome.wustl.edu 37 10 3193501 3193501 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 3193501 3193501 G A SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.1676 p.A559V 0.991 pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 24 0 0 28 3 9.67742 HNRNPF 0 genome.wustl.edu 37 10 43882582 43882582 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 43882582 43882582 C T SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known missense c.751 p.D251N 0.939 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 84 0 0 52 31 37.3494 ZFAND4 0 genome.wustl.edu 37 10 46121505 46121505 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 46121505 46121505 C T SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.1766 p.G589D 0.997 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 230 0 0 172 92 34.8485 OGDHL 0 genome.wustl.edu 37 10 50943176 50943176 + RNA SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 50943176 50943176 A G SNP OGDHL ENST00000490844 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors OGDHL HGNC ENSG00000197444 35 0 0 18 11 37.931 AGAP6 0 genome.wustl.edu 37 10 51754188 51754188 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 51754188 51754188 A G SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.326 p.H109R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 92 0 0 167 23 12.1053 DKK1 0 genome.wustl.edu 37 10 54074209 54074209 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 54074209 54074209 C T SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known silent c.15 p.G5 0.016 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 114 1 0.869565 91 16 14.9533 ZWINT 0 genome.wustl.edu 37 10 58119262 58119262 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 58119262 58119262 A G SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.455 p.V152A 0.860 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 136 0 0 65 43 39.8148 JMJD1C 0 genome.wustl.edu 37 10 64936152 64936152 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 64936152 64936152 G A SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.7306 p.R2436C 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 136 0 0 107 58 35.1515 JMJD1C 0 genome.wustl.edu 37 10 64958334 64958334 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 64958334 64958334 A G SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.5430 p.G1810 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 319 0 0 188 107 36.2712 HERC4 0 genome.wustl.edu 37 10 69792621 69792621 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 69792621 69792621 A G SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.691 p.Y231H 0.758 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 132 0 0 79 49 38.2812 HK1 0 genome.wustl.edu 37 10 71144668 71144668 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 71144668 71144668 C T SNP HK1 ENST00000448642 human ensembl 74_37 +1 known silent c.1941 p.D647 0.992 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 243 0 0 134 103 43.4599 PSAP 0 genome.wustl.edu 37 10 73594172 73594172 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 73594172 73594172 G A SNP PSAP ENST00000394934 human ensembl 74_37 -1 known missense c.131 p.A44V 0.997 pirsf_Saposin_chordata,pfam_SapA,smart_SapA,pfscan_SapA pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 37 0 0 28 16 36.3636 CHST3 0 genome.wustl.edu 37 10 73767332 73767332 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 73767332 73767332 C T SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known silent c.543 p.A181 0.263 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 17 0 0 19 7 26.9231 SEC24C 0 genome.wustl.edu 37 10 75530210 75530210 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 75530210 75530210 G A SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.3035 p.S1012N 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 516 0 0 372 187 33.4526 ZSWIM8 0 genome.wustl.edu 37 10 75560431 75560431 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 75560431 75560431 C T SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.5060 p.A1687V 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 61 0 0 51 22 30.137 VCL 0 genome.wustl.edu 37 10 75834640 75834640 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 75834640 75834640 T C SNP VCL ENST00000211998 human ensembl 74_37 +1 known silent c.762 p.D254 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 148 0 0 151 23 13.2184 ITIH5 0 genome.wustl.edu 37 10 7621950 7621950 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 7621950 7621950 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.1186 p.R396W 0.992 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 28 0 0 19 8 29.6296 KAT6B 0 genome.wustl.edu 37 10 76790391 76790391 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 76790391 76790391 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.5809 p.A1937T 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 155 0 0 99 67 40.3614 KCNMA1 0 genome.wustl.edu 37 10 78669765 78669765 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 78669765 78669765 T C SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.3118 p.T1040A 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 65 0 0 63 4 5.97015 DLG5 0 genome.wustl.edu 37 10 79567608 79567608 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 79567608 79567608 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.4742 p.R1581H 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 97 0 0 82 38 31.6667 POLR3A 0 genome.wustl.edu 37 10 79745713 79745713 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 79745713 79745713 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.3019 p.T1007A 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 113 0 0 70 63 47.3684 GATA3 0 genome.wustl.edu 37 10 8100470 8100470 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 8100470 8100470 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known silent c.444 p.P148 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 44 0 0 29 24 45.283 LRIT2 0 genome.wustl.edu 37 10 85984521 85984521 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 85984521 85984521 T A SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.460 p.T154S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 168 0 0 132 12 8.33333 WAPAL 0 genome.wustl.edu 37 10 88211855 88211855 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 88211855 88211855 T C SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known missense c.2983 p.S995G 1.000 pfam_WAPL_prot,superfamily_ARM-type_fold pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 227 0 0 197 36 15.4506 GLUD1 0 genome.wustl.edu 37 10 88820771 88820771 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 88820771 88820771 T C SNP GLUD1 ENST00000277865 human ensembl 74_37 -1 known silent c.960 p.L320 0.992 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 409 0 0 370 39 9.53545 ACTA2 0 genome.wustl.edu 37 10 90701123 90701123 + Missense_Mutation SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 90701123 90701123 C G SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.479 p.G160A 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 87 0 0 57 34 37.3626 MYOF 0 genome.wustl.edu 37 10 95079635 95079635 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 95079635 95079635 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known silent c.5592 p.A1864 0.943 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 117 0 0 87 35 28.6885 FFAR4 0 genome.wustl.edu 37 10 95347331 95347331 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 95347331 95347331 G A SNP FFAR4 ENST00000371483 human ensembl 74_37 +1 known missense c.1099 p.V367I 0.569 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors FFAR4 HGNC ENSG00000186188 218 0 0 181 34 15.814 BLNK 0 genome.wustl.edu 37 10 97975104 97975104 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 97975104 97975104 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known missense c.649 p.P217S 0.001 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 158 0 0 98 80 44.9438 C10orf12 0 genome.wustl.edu 37 10 98743674 98743674 + Nonsense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 98743674 98743674 A T SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known nonsense c.2527 p.K843* 1.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 117 0 0 69 48 41.0256 C10orf12 0 genome.wustl.edu 37 10 98744692 98744692 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 98744692 98744692 C T SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.3545 p.T1182M 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 70 0 0 76 4 5 PGR 0 genome.wustl.edu 37 11 100998808 100998808 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 100998808 100998808 C T SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.994 p.G332R 0.035 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 15 0 0 7 10 58.8235 MMP27 0 genome.wustl.edu 37 11 102562575 102562575 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 102562575 102562575 C A SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known missense c.1464 p.K488N 0.000 NULL pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 192 0 0 107 78 42.1622 MMP12 0 genome.wustl.edu 37 11 102738724 102738724 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 102738724 102738724 G A SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors MMP12 HGNC ENSG00000110347 33 0 0 13 13 50 AMPD3 0 genome.wustl.edu 37 11 10508889 10508889 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 10508889 10508889 G T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.917 p.R306L 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 223 0 0 132 103 43.8298 DRD2 0 genome.wustl.edu 37 11 113287617 113287617 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 113287617 113287617 G A SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.500 p.S167F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 34 0 0 18 12 40 GALNT18 0 genome.wustl.edu 37 11 11643032 11643032 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 11643032 11643032 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.109 p.A37T 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 83 0 0 74 13 14.9425 APOA1 0 genome.wustl.edu 37 11 116706810 116706810 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 116706810 116706810 C T SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known missense c.518 p.R173H 0.250 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 42 0 0 26 21 44.6809 DSCAML1 0 genome.wustl.edu 37 11 117389401 117389401 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 117389401 117389401 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.1470 p.A490 0.037 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 52 0 0 31 15 32.6087 AMICA1 0 genome.wustl.edu 37 11 118074193 118074193 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 118074193 118074193 A T SNP AMICA1 ENST00000356289 human ensembl 74_37 -1 known missense c.722 p.L241Q 0.027 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 381 1 0.26178 271 185 40.5702 AMICA1 0 genome.wustl.edu 37 11 118074310 118074310 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 118074310 118074310 A T SNP AMICA1 ENST00000356289 human ensembl 74_37 -1 known missense c.605 p.F202Y 0.997 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 264 0 0 185 119 39.1447 CD3E 0 genome.wustl.edu 37 11 118184512 118184512 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 118184512 118184512 T C SNP CD3E ENST00000361763 human ensembl 74_37 +1 known missense c.443 p.V148A 0.923 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3E HGNC ENSG00000198851 86 0 0 82 15 15.4639 KMT2A 0 genome.wustl.edu 37 11 118354898 118354898 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 118354898 118354898 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.4087 p.E1363K 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 150 0 0 106 53 33.3333 BCL9L 0 genome.wustl.edu 37 11 118771337 118771337 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 118771337 118771337 T G SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3115 p.M1039L 0.014 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 79 0 0 58 41 41.4141 OR8D4 0 genome.wustl.edu 37 11 123777411 123777411 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 123777411 123777411 C T SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known silent c.273 p.S91 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 687 0 0 387 171 30.6452 OR8G1 0 genome.wustl.edu 37 11 124120790 124120790 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 124120790 124120790 A G SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.368 p.Y123C 0.504 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 OR8G1 HGNC ENSG00000197849 271 0 0 209 47 18.3594 STT3A 0 genome.wustl.edu 37 11 125478022 125478022 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 125478022 125478022 C T SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.799 p.H267Y 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 369 0 0 241 166 40.7862 PUS3 0 genome.wustl.edu 37 11 125765842 125765842 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 125765842 125765842 C T SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.338 p.R113Q 1.000 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 645 0 0 414 214 34.0764 MUC5B 0 genome.wustl.edu 37 11 1261421 1261421 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 1261421 1261421 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.3795 p.T1265 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 24 0 0 12 5 29.4118 PRDM10 0 genome.wustl.edu 37 11 129784663 129784663 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 129784663 129784663 G A SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.2789 p.S930L 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 266 0 0 275 20 6.77966 APLP2 0 genome.wustl.edu 37 11 129993525 129993525 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 129993525 129993525 C T SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.941 p.A314V 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 82 0 0 67 32 32.3232 SNX19 0 genome.wustl.edu 37 11 130784286 130784286 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 130784286 130784286 T C SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known missense c.1549 p.S517G 1.000 superfamily_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 151 0 0 82 46 35.9375 NCAPD3 0 genome.wustl.edu 37 11 134050984 134050984 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 134050984 134050984 G A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known silent c.2547 p.D849 0.009 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 73 0 0 52 23 30.6667 NCAPD3 0 genome.wustl.edu 37 11 134079287 134079287 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 134079287 134079287 G A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.652 p.H218Y 0.033 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 137 0 0 107 38 26.2069 THYN1 0 genome.wustl.edu 37 11 134118831 134118831 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 134118831 134118831 A G SNP THYN1 ENST00000341541 human ensembl 74_37 -1 known missense c.503 p.M168T 1.000 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 259 0 0 196 43 17.9916 BTBD10 0 genome.wustl.edu 37 11 13466713 13466713 + RNA SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 13466713 13466713 A G SNP BTBD10 ENST00000527858 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors BTBD10 HGNC ENSG00000148925 133 0 0 109 22 16.7939 PSMA1 0 genome.wustl.edu 37 11 14529273 14529273 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 14529273 14529273 T C SNP PSMA1 ENST00000418988 human ensembl 74_37 -1 known missense c.682 p.T228A 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA1 HGNC ENSG00000129084 181 0 0 96 59 38.0645 ABCC8 0 genome.wustl.edu 37 11 17449860 17449860 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 17449860 17449860 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.2016 p.G672 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 208 0 0 158 104 39.6947 USH1C 0 genome.wustl.edu 37 11 17531369 17531369 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 17531369 17531369 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1547 p.P516L 0.992 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 22 0 0 22 27 55.102 NAV2 0 genome.wustl.edu 37 11 20066528 20066528 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 20066528 20066528 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.3283 p.A1095T 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 53 0 0 20 18 47.3684 ANO3 0 genome.wustl.edu 37 11 26529809 26529809 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 26529809 26529809 G A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known silent c.591 p.E197 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 95 0 0 67 39 36.7925 KIF18A 0 genome.wustl.edu 37 11 28112174 28112174 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 28112174 28112174 G T SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.689 p.A230D 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 158 0 0 131 60 31.4136 CARS 0 genome.wustl.edu 37 11 3023796 3023796 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 3023796 3023796 G A SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.2252 p.A751V 0.996 NULL pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 346 0 0 357 24 6.29921 STIM1 0 genome.wustl.edu 37 11 4080587 4080587 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 4080587 4080587 C T SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known silent c.574 p.L192 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 75 0 0 71 24 25.2632 EXT2 0 genome.wustl.edu 37 11 44129758 44129758 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 44129758 44129758 C T SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known missense c.595 p.R199C 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 53 0 0 53 5 8.62069 CHST1 0 genome.wustl.edu 37 11 45671728 45671728 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 45671728 45671728 T C SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.746 p.D249G 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 115 0 0 51 33 39.2857 AMBRA1 0 genome.wustl.edu 37 11 46419362 46419362 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 46419362 46419362 C T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.3535 p.G1179S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 35 0 0 25 11 30.5556 ATG13 0 genome.wustl.edu 37 11 46690085 46690085 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 46690085 46690085 T C SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known missense c.1189 p.F397L 1.000 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 157 0 0 125 27 17.7632 F2 0 genome.wustl.edu 37 11 46744981 46744981 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 46744981 46744981 C T SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.472 p.R158C 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 82 0 0 71 8 10.1266 PSMC3 0 genome.wustl.edu 37 11 47445735 47445735 + Splice_Site SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 47445735 47445735 C A SNP PSMC3 ENST00000298852 human ensembl 74_37 -1 known splice_site c.454-1 e6-1 1.000 - - - no_errors PSMC3 HGNC ENSG00000165916 192 0 0 136 85 38.4615 RNH1 0 genome.wustl.edu 37 11 502079 502079 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 502079 502079 C T SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known silent c.84 p.Q28 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 16 0 0 28 15 34.8837 OR4C46 0 genome.wustl.edu 37 11 51515297 51515297 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 51515297 51515297 A G SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.16 p.N6D 0.192 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 206 0 0 157 34 17.801 OR51V1 0 genome.wustl.edu 37 11 5221605 5221605 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 5221605 5221605 T C SNP OR51V1 ENST00000321255 human ensembl 74_37 -1 known missense c.326 p.Q109R 1.000 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 OR51V1 HGNC ENSG00000176742 96 0 0 70 7 9.09091 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 150 0 0 183 42 18.6667 TRIM51 0 genome.wustl.edu 37 11 55656478 55656478 + Splice_Site SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 55656478 55656478 G C SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known splice_site c.761+1 e4+1 0.008 - - - no_errors TRIM51 HGNC ENSG00000124900 140 0 0 156 11 6.58683 OR5J2 0 genome.wustl.edu 37 11 55944701 55944701 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 55944701 55944701 C A SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.608 p.S203Y 0.030 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 226 0 0 105 87 45.3125 OR5AP2 0 genome.wustl.edu 37 11 56409724 56409724 + Silent SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 56409724 56409724 G T SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known silent c.195 p.P65 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 127 0 0 127 8 5.92593 APLNR 0 genome.wustl.edu 37 11 57004323 57004323 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 57004323 57004323 G A SNP APLNR ENST00000257254 human ensembl 74_37 -1 known silent c.156 p.T52 0.970 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 95 0 0 84 48 36.3636 SLC43A1 0 genome.wustl.edu 37 11 57254576 57254576 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 57254576 57254576 G A SNP SLC43A1 ENST00000278426 human ensembl 74_37 -1 known missense c.1525 p.P509S 0.924 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 34 0 0 47 4 7.84314 PHRF1 0 genome.wustl.edu 37 11 596998 596998 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 596998 596998 G A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.696 p.A232 0.000 pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 75 0 0 54 24 30.7692 MS4A8 0 genome.wustl.edu 37 11 60468386 60468386 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 60468386 60468386 C A SNP MS4A8 ENST00000300226 human ensembl 74_37 +1 known missense c.53 p.A18E 0.005 NULL pfam_CD20-like - no_errors MS4A8 HGNC ENSG00000166959 264 0 0 156 98 38.5827 DAGLA 0 genome.wustl.edu 37 11 61511425 61511425 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 61511425 61511425 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.2593 p.V865I 0.897 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 93 0 0 57 59 50.8621 INCENP 0 genome.wustl.edu 37 11 61897562 61897562 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 61897562 61897562 C A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.563 p.S188Y 0.005 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 71 0 0 42 29 40.8451 CDHR5 0 genome.wustl.edu 37 11 621608 621608 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 621608 621608 C T SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.461 p.R154H 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 93 0 0 71 30 29.703 AHNAK 0 genome.wustl.edu 37 11 62289273 62289273 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 62289273 62289273 G T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.12616 p.P4206T 0.943 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 586 0 0 349 270 43.6187 HNRNPUL2 0 genome.wustl.edu 37 11 62482999 62482999 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 62482999 62482999 T C SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known silent c.2136 p.R712 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 180 0 0 149 9 5.6962 NRXN2 0 genome.wustl.edu 37 11 64419616 64419616 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 64419616 64419616 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.2427 p.P809 0.122 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 38 0 0 23 20 46.5116 MALAT1 0 genome.wustl.edu 37 11 65265646 65265646 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 65265646 65265646 C T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MALAT1 HGNC ENSG00000251562 76 0 0 39 36 48 SPTBN2 0 genome.wustl.edu 37 11 66457628 66457628 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 66457628 66457628 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5692 p.A1898T 0.997 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 89 0 0 91 5 5.20833 DCHS1 0 genome.wustl.edu 37 11 6655386 6655386 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 6655386 6655386 G T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.1949 p.P650H 0.854 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 151 0 0 137 31 18.4524 LRFN4 0 genome.wustl.edu 37 11 66625774 66625774 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 66625774 66625774 G A SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known missense c.559 p.G187S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 47 0 0 19 18 48.6486 ADRBK1 0 genome.wustl.edu 37 11 67048958 67048958 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 67048958 67048958 C T SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.676 p.R226C 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_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 46 0 0 39 16 29.0909 SUV420H1 0 genome.wustl.edu 37 11 67925991 67925991 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 67925991 67925991 C A SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.1822 p.G608C 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 178 0 0 123 12 8.88889 IGHMBP2 0 genome.wustl.edu 37 11 68707031 68707031 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 68707031 68707031 C A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known silent c.2814 p.A938 0.898 pfscan_Znf_AN1 pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 48 0 0 48 11 18.6441 PPFIA1 0 genome.wustl.edu 37 11 70194330 70194330 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 70194330 70194330 G A SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known missense c.1967 p.R656Q 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 203 0 0 218 39 15.1751 NADSYN1 0 genome.wustl.edu 37 11 71201915 71201915 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 71201915 71201915 C T SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known silent c.1587 p.Y529 0.994 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 112 0 0 103 8 7.20721 WNT11 0 genome.wustl.edu 37 11 75898133 75898133 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 75898133 75898133 G A SNP WNT11 ENST00000322563 human ensembl 74_37 -1 known silent c.1041 p.T347 0.016 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 72 0 0 47 23 32.8571 NLRP10 0 genome.wustl.edu 37 11 7982707 7982707 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 7982707 7982707 G A SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known missense c.452 p.T151M 0.000 superfamily_P-loop_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 112 0 0 84 40 32.2581 PNPLA2 0 genome.wustl.edu 37 11 821634 821634 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 821634 821634 C T SNP PNPLA2 ENST00000336615 human ensembl 74_37 +1 known missense c.194 p.A65V 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA2 HGNC ENSG00000177666 39 0 0 53 3 5.35714 STK33 0 genome.wustl.edu 37 11 8496404 8496404 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 8496404 8496404 A G SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.49 p.S17P 0.607 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 STK33 HGNC ENSG00000130413 296 0 0 227 108 32.2388 ME3 0 genome.wustl.edu 37 11 86267648 86267648 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 86267648 86267648 C T SNP ME3 ENST00000359636 human ensembl 74_37 -1 known silent c.414 p.T138 0.082 pfam_Malic_N,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 75 0 0 59 33 35.8696 GRM5 0 genome.wustl.edu 37 11 88386447 88386447 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 88386447 88386447 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1036 p.P346S 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 124 0 0 86 61 41.4966 NAALAD2 0 genome.wustl.edu 37 11 89892496 89892496 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 89892496 89892496 A G SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.980 p.D327G 0.002 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 136 0 0 101 47 31.7568 FAT3 0 genome.wustl.edu 37 11 92538325 92538325 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 92538325 92538325 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.8903 p.N2968S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 68 0 0 58 18 23.6842 FAT3 0 genome.wustl.edu 37 11 92539641 92539641 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 92539641 92539641 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.9207 p.Y3069 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 9 0 0 4 4 50 PIWIL4 0 genome.wustl.edu 37 11 94353244 94353244 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 94353244 94353244 C T SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known silent c.2376 p.N792 0.075 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 132 0 0 78 55 41.3534 GOLGA2P5 0 genome.wustl.edu 37 12 100551322 100551322 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 100551322 100551322 G A SNP GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 102 0 0 97 14 12.6126 GABARAPL1 0 genome.wustl.edu 37 12 10373153 10373153 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 10373153 10373153 A G SNP GABARAPL1 ENST00000266458 human ensembl 74_37 +1 known missense c.284 p.Y95C 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL1 HGNC ENSG00000139112 112 0 0 60 29 32.5843 C12orf45 0 genome.wustl.edu 37 12 105388388 105388388 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 105388388 105388388 A G SNP C12orf45 ENST00000552951 human ensembl 74_37 +1 known missense c.472 p.I158V 0.020 NULL NULL - no_errors C12orf45 HGNC ENSG00000151131 85 0 0 36 23 38.9831 KLRC1 0 genome.wustl.edu 37 12 10601870 10601870 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 10601870 10601870 G T SNP KLRC1 ENST00000359151 human ensembl 74_37 -1 known missense c.455 p.S152Y 0.001 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 418 0 0 302 146 32.5893 NUAK1 0 genome.wustl.edu 37 12 106460846 106460846 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 106460846 106460846 C T SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1720 p.D574N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 61 0 0 29 29 50 ASCL4 0 genome.wustl.edu 37 12 108169061 108169061 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 108169061 108169061 C T SNP ASCL4 ENST00000342331 human ensembl 74_37 +1 known silent c.69 p.G23 0.025 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL4 HGNC ENSG00000187855 116 0 0 96 18 15.7895 ACAD10 0 genome.wustl.edu 37 12 112167624 112167624 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 112167624 112167624 C T SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.1351 p.R451C 0.142 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 85 0 0 46 36 43.9024 TAS2R43 0 genome.wustl.edu 37 12 11244407 11244407 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 11244407 11244407 G A SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known missense c.422 p.A141V 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 144 0 0 76 61 44.5255 RPL6 0 genome.wustl.edu 37 12 112846235 112846235 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 112846235 112846235 C T SNP RPL6 ENST00000202773 human ensembl 74_37 -1 known missense c.226 p.A76T 0.839 pfam_Ribosomal_L6_N pfam_60S_ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC ENSG00000089009 283 0 0 171 91 34.7328 OAS3 0 genome.wustl.edu 37 12 113386827 113386827 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 113386827 113386827 C T SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known silent c.1191 p.I397 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 56 0 0 36 20 35.7143 MED13L 0 genome.wustl.edu 37 12 116446528 116446528 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 116446528 116446528 G A SNP MED13L ENST00000281928 human ensembl 74_37 -1 known nonsense c.1690 p.R564* 0.926 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 91 0 0 51 30 37.037 RNF10 0 genome.wustl.edu 37 12 121014523 121014523 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 121014523 121014523 C T SNP RNF10 ENST00000535470 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF10 HGNC ENSG00000022840 126 0 0 82 42 33.871 ANAPC5 0 genome.wustl.edu 37 12 121756174 121756174 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 121756174 121756174 G A SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known missense c.1799 p.A600V 1.000 smart_TPR_repeat smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 115 0 0 61 53 46.4912 ORAI1 0 genome.wustl.edu 37 12 122078974 122078974 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 122078974 122078974 G A SNP ORAI1 ENST00000330079 human ensembl 74_37 +1 known missense c.337 p.A113T 0.162 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI1 HGNC ENSG00000182500 25 0 0 23 16 41.0256 ABCB9 0 genome.wustl.edu 37 12 123419951 123419951 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 123419951 123419951 G A SNP ABCB9 ENST00000442028 human ensembl 74_37 -1 known silent c.1771 p.L591 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB9 HGNC ENSG00000150967 103 0 0 106 14 11.6667 DNAH10 0 genome.wustl.edu 37 12 124359903 124359903 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 124359903 124359903 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.7710 p.A2570 0.970 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 68 0 0 39 28 41.791 NCOR2 0 genome.wustl.edu 37 12 124915272 124915272 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 124915272 124915272 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.944 p.R315H 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 124 0 0 94 68 41.9753 ULK1 0 genome.wustl.edu 37 12 132393481 132393481 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 132393481 132393481 A G SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.529 p.M177V 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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 37 0 0 61 4 6.15385 ULK1 0 genome.wustl.edu 37 12 132394489 132394489 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 132394489 132394489 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.751 p.L251 0.254 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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 28 0 0 11 7 38.8889 GALNT9 0 genome.wustl.edu 37 12 132688118 132688118 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 132688118 132688118 G A SNP GALNT9 ENST00000328957 human ensembl 74_37 -1 known missense c.1195 p.R399C 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 78 0 0 61 33 35.1064 POLE 0 genome.wustl.edu 37 12 133210876 133210876 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 133210876 133210876 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.5900 p.A1967V 0.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 116 0 0 74 61 45.1852 ATF7IP 0 genome.wustl.edu 37 12 14650878 14650878 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 14650878 14650878 T C SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known silent c.3684 p.C1228 0.998 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 238 0 0 218 12 5.21739 C2CD5 0 genome.wustl.edu 37 12 22631335 22631335 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 22631335 22631335 C T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known missense c.1814 p.G605D 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 121 0 0 107 6 5.30973 IQSEC3 0 genome.wustl.edu 37 12 248074 248074 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 248074 248074 G A SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known silent c.1545 p.T515 0.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 11 0 0 11 6 35.2941 LRMP 0 genome.wustl.edu 37 12 25232195 25232195 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 25232195 25232195 C T SNP LRMP ENST00000354454 human ensembl 74_37 +1 known silent c.42 p.R14 0.000 pfam_MRVI1 pfam_MRVI1 - no_errors LRMP HGNC ENSG00000118308 304 0 0 226 116 33.9181 PPFIBP1 0 genome.wustl.edu 37 12 27820253 27820253 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 27820253 27820253 G T SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.1197 p.E399D 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 121 0 0 136 16 10.5263 CNTN1 0 genome.wustl.edu 37 12 41408095 41408095 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 41408095 41408095 T C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2179 p.W727R 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 81 0 0 50 37 42.5287 PDZRN4 0 genome.wustl.edu 37 12 41967474 41967474 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 41967474 41967474 C T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known nonsense c.2893 p.R965* 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 68 0 0 45 18 28.5714 PPHLN1 0 genome.wustl.edu 37 12 42835202 42835202 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 42835202 42835202 T A SNP PPHLN1 ENST00000395568 human ensembl 74_37 +1 known missense c.995 p.F332Y 1.000 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 196 0 0 119 81 40.5 ANO6 0 genome.wustl.edu 37 12 45784262 45784262 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 45784262 45784262 C T SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.1367 p.A456V 0.965 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 271 0 0 207 111 34.9057 KANSL2 0 genome.wustl.edu 37 12 49048764 49048764 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 49048764 49048764 T C SNP KANSL2 ENST00000420613 human ensembl 74_37 -1 known missense c.1307 p.H436R 1.000 NULL NULL - no_errors KANSL2 HGNC ENSG00000139620 14 0 0 16 4 20 ADCY6 0 genome.wustl.edu 37 12 49169835 49169835 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 49169835 49169835 G A SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.1717 p.R573W 0.199 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 27 0 0 20 9 31.0345 DDX23 0 genome.wustl.edu 37 12 49230468 49230468 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 49230468 49230468 G A SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.1120 p.R374C 1.000 NULL 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 DDX23 HGNC ENSG00000174243 260 1 0.383142 136 93 40.6114 KMT2D 0 genome.wustl.edu 37 12 49425937 49425937 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 49425937 49425937 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.12551 p.G4184D 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 130 0 0 126 7 5.26316 KMT2D 0 genome.wustl.edu 37 12 49435088 49435088 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 49435088 49435088 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.6465 p.S2155 0.995 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 8 0 0 2 3 60 DIP2B 0 genome.wustl.edu 37 12 51112539 51112539 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 51112539 51112539 C T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.2899 p.R967C 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 70 0 0 44 23 34.3284 KRT18 0 genome.wustl.edu 37 12 53344642 53344642 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 53344642 53344642 C T SNP KRT18 ENST00000388835 human ensembl 74_37 +1 known silent c.609 p.I203 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 29 0 0 9 20 68.9655 ESPL1 0 genome.wustl.edu 37 12 53679780 53679780 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 53679780 53679780 A G SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.3260 p.Q1087R 0.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 195 0 0 188 10 5.05051 ESPL1 0 genome.wustl.edu 37 12 53686642 53686642 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 53686642 53686642 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.6049 p.R2017W 1.000 pfam_Peptidase_C50 pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 134 0 0 67 45 40.1786 ERBB3 0 genome.wustl.edu 37 12 56482369 56482369 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 56482369 56482369 C A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.917 p.P306H 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 340 0 0 242 149 38.1074 MYL6 0 genome.wustl.edu 37 12 56552151 56552151 + RNA SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 56552151 56552151 T C SNP MYL6 ENST00000552297 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors MYL6 HGNC ENSG00000092841 26 0 0 18 10 35.7143 GLS2 0 genome.wustl.edu 37 12 56868375 56868375 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 56868375 56868375 T C SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known missense c.1177 p.M393V 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 144 0 0 101 48 32.2148 NACA 0 genome.wustl.edu 37 12 57114912 57114912 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 57114912 57114912 T C SNP NACA ENST00000454682 human ensembl 74_37 -1 known silent c.402 p.S134 1.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 47 0 0 43 5 10.4167 TAC3 0 genome.wustl.edu 37 12 57406624 57406624 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 57406624 57406624 T C SNP TAC3 ENST00000357616 human ensembl 74_37 -1 known missense c.274 p.K92E 1.000 prints_Neurokinin-B/TAC3 pfam_Neurokinin-B/TAC3,prints_Neurokinin-B/TAC3 - no_errors TAC3 HGNC ENSG00000166863 148 0 0 99 63 38.8889 MYO1A 0 genome.wustl.edu 37 12 57432281 57432281 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 57432281 57432281 G A SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.1675 p.R559C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 118 0 0 62 41 39.8058 GLI1 0 genome.wustl.edu 37 12 57861144 57861144 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 57861144 57861144 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.941 p.R314H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 52 0 0 28 24 46.1538 ARHGEF25 0 genome.wustl.edu 37 12 58006732 58006732 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 58006732 58006732 C A SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known silent c.234 p.G78 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 292 0 0 196 107 35.3135 PLEKHG6 0 genome.wustl.edu 37 12 6424299 6424299 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 6424299 6424299 C T SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known silent c.423 p.I141 0.718 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 56 0 0 30 17 36.1702 CD4 0 genome.wustl.edu 37 12 6926429 6926429 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 6926429 6926429 T C SNP CD4 ENST00000011653 human ensembl 74_37 +1 known silent c.1089 p.P363 0.000 pfam_Ig_C2-set,prints_Ag_CD4 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 27 0 0 23 8 25.8065 KCNC2 0 genome.wustl.edu 37 12 75601374 75601374 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 75601374 75601374 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.390 p.C130 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 21 0 0 20 12 37.5 CSRP2 0 genome.wustl.edu 37 12 77254062 77254062 + Splice_Site SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 77254062 77254062 A G SNP CSRP2 ENST00000311083 human ensembl 74_37 -1 known splice_site c.411+2 e3+2 1.000 - - - no_errors CSRP2 HGNC ENSG00000175183 179 0 0 115 57 33.1395 NAV3 0 genome.wustl.edu 37 12 78553055 78553055 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 78553055 78553055 G T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.4858 p.A1620S 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 97 0 0 52 26 33.3333 LRRIQ1 0 genome.wustl.edu 37 12 85518280 85518280 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 85518280 85518280 T C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known silent c.3990 p.I1330 0.001 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 266 0 0 204 124 37.8049 LRRIQ1 0 genome.wustl.edu 37 12 85638609 85638609 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 85638609 85638609 T C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.5059 p.S1687P 1.000 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 124 0 0 139 8 5.44218 A2ML1 0 genome.wustl.edu 37 12 9020604 9020604 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 9020604 9020604 C A SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.3884 p.P1295H 0.998 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 127 0 0 88 55 38.4615 EPYC 0 genome.wustl.edu 37 12 91371989 91371989 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 91371989 91371989 T C SNP EPYC ENST00000261172 human ensembl 74_37 -1 known silent c.216 p.P72 0.163 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 235 0 0 242 30 11.0294 PCCA 0 genome.wustl.edu 37 13 100909900 100909900 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 100909900 100909900 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.689 p.R230H 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 50 0 0 37 31 45.5882 COL4A2 0 genome.wustl.edu 37 13 111156281 111156281 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 111156281 111156281 G T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.4226 p.R1409M 0.297 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 60 0 0 65 15 18.75 LAMP1 0 genome.wustl.edu 37 13 113975961 113975961 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 113975961 113975961 C T SNP LAMP1 ENST00000332556 human ensembl 74_37 +1 known missense c.1033 p.R345C 0.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC ENSG00000185896 139 0 0 92 66 41.7722 GRTP1 0 genome.wustl.edu 37 13 114005253 114005253 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 114005253 114005253 G A SNP GRTP1 ENST00000375430 human ensembl 74_37 -1 known missense c.376 p.R126W 0.998 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC ENSG00000139835 262 0 0 164 115 41.2186 ZMYM5 0 genome.wustl.edu 37 13 20398930 20398930 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 20398930 20398930 C T SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known missense c.1697 p.R566Q 1.000 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 41 0 0 21 9 30 ZMYM5 0 genome.wustl.edu 37 13 20411871 20411871 + Silent SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 20411871 20411871 G T SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known silent c.963 p.P321 1.000 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 121 0 0 60 51 45.9459 SACS 0 genome.wustl.edu 37 13 23911920 23911920 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 23911920 23911920 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6095 p.S2032L 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 121 0 0 73 42 36.5217 SACS 0 genome.wustl.edu 37 13 23942624 23942624 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 23942624 23942624 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known nonsense c.262 p.R88* 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 42 0 0 22 17 43.5897 ANKRD20A19P 0 genome.wustl.edu 37 13 24515851 24515851 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 24515851 24515851 C T SNP ANKRD20A19P ENST00000420143 human ensembl 74_37 -1 known rna NULL NULL 0.762 - - - no_errors ANKRD20A19P HGNC ENSG00000196593 146 0 0 72 40 35.7143 SPATA13 0 genome.wustl.edu 37 13 24823742 24823742 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 24823742 24823742 G A SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.1781 p.G594D 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 83 0 0 49 32 39.5062 MTMR6 0 genome.wustl.edu 37 13 25832819 25832819 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 25832819 25832819 C T SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.738 p.M246I 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 104 0 0 59 40 40.404 PAN3 0 genome.wustl.edu 37 13 28834653 28834653 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 28834653 28834653 G A SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.1318 p.A440T 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 260 0 0 161 100 38.3142 DGKH 0 genome.wustl.edu 37 13 42772702 42772702 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 42772702 42772702 G A SNP DGKH ENST00000337343 human ensembl 74_37 +1 known silent c.2256 p.T752 0.123 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 168 0 0 174 34 16.3462 SLC25A30 0 genome.wustl.edu 37 13 45976499 45976499 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 45976499 45976499 T A SNP SLC25A30 ENST00000519676 human ensembl 74_37 -1 known missense c.400 p.M134L 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A30 HGNC ENSG00000174032 168 0 0 116 58 33.3333 PHF11 0 genome.wustl.edu 37 13 50097359 50097359 + Nonsense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 50097359 50097359 G T SNP PHF11 ENST00000378319 human ensembl 74_37 +1 known nonsense c.619 p.E207* 0.005 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF11 HGNC ENSG00000136147 94 0 0 98 7 6.66667 PCDH17 0 genome.wustl.edu 37 13 58207120 58207120 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 58207120 58207120 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.440 p.P147L 0.999 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 23 0 0 19 8 29.6296 SLITRK1 0 genome.wustl.edu 37 13 84453682 84453682 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 84453682 84453682 G A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1961 p.A654V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 54 0 0 45 29 39.1892 SLITRK1 0 genome.wustl.edu 37 13 84454544 84454544 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 84454544 84454544 A C SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1099 p.L367V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 194 0 0 163 12 6.85714 SLITRK1 0 genome.wustl.edu 37 13 84455457 84455457 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 84455457 84455457 A G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.186 p.H62 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 166 0 0 98 65 39.8773 DCT 0 genome.wustl.edu 37 13 95131277 95131277 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 95131277 95131277 C T SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.233 p.R78Q 0.941 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 123 0 0 84 58 40.8451 ABCC4 0 genome.wustl.edu 37 13 95686970 95686970 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 95686970 95686970 T A SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.3759 p.K1253N 0.997 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 188 0 0 214 13 5.72687 EML1 0 genome.wustl.edu 37 14 100380563 100380563 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 100380563 100380563 C T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known silent c.1599 p.G533 0.038 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 188 0 0 109 62 36.2573 TECPR2 0 genome.wustl.edu 37 14 102916927 102916927 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 102916927 102916927 G T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.3347 p.G1116V 1.000 superfamily_RCC1/BLIP-II pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 106 0 0 94 9 8.73786 PPP1R13B 0 genome.wustl.edu 37 14 104204115 104204115 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 104204115 104204115 A C SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.2947 p.S983A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 51 0 0 41 13 24.0741 INF2 0 genome.wustl.edu 37 14 105178032 105178032 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 105178032 105178032 G A SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.2485 p.A829T 0.988 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 36 0 0 24 22 47.8261 AHNAK2 0 genome.wustl.edu 37 14 105418613 105418613 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 105418613 105418613 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.3175 p.A1059T 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 244 0 0 125 100 44.4444 RNASE7 0 genome.wustl.edu 37 14 21511371 21511371 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 21511371 21511371 G A SNP RNASE7 ENST00000298690 human ensembl 74_37 +1 known missense c.220 p.E74K 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE7 HGNC ENSG00000165799 98 0 0 58 53 47.7477 ARHGEF40 0 genome.wustl.edu 37 14 21542132 21542132 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 21542132 21542132 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known silent c.243 p.P81 0.887 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 113 1 0.877193 68 43 38.7387 PRMT5 0 genome.wustl.edu 37 14 23397733 23397733 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 23397733 23397733 G A SNP PRMT5 ENST00000324366 human ensembl 74_37 -1 known nonsense c.202 p.R68* 1.000 pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 138 1 0.719424 139 10 6.71141 MYH7 0 genome.wustl.edu 37 14 23898199 23898199 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 23898199 23898199 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.1372 p.G458R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 92 0 0 63 32 33.6842 PCK2 0 genome.wustl.edu 37 14 24569425 24569425 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 24569425 24569425 A G SNP PCK2 ENST00000396973 human ensembl 74_37 +1 known missense c.1237 p.M413V 0.967 NULL pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N - no_errors PCK2 HGNC ENSG00000100889 57 0 0 40 20 33.3333 RNF31 0 genome.wustl.edu 37 14 24620520 24620520 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 24620520 24620520 G T SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.1669 p.A557S 1.000 superfamily_UBA-like pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 54 0 0 46 34 42.5 REC8 0 genome.wustl.edu 37 14 24641958 24641958 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 24641958 24641958 C T SNP REC8 ENST00000311457 human ensembl 74_37 +1 known silent c.93 p.R31 0.906 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 40 0 0 41 13 24.0741 NYNRIN 0 genome.wustl.edu 37 14 24884675 24884675 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 24884675 24884675 G A SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known silent c.3720 p.A1240 0.001 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 73 0 0 48 25 34.2466 NPAS3 0 genome.wustl.edu 37 14 34269448 34269448 + Silent SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 34269448 34269448 G C SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known silent c.1935 p.V645 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 31 0 0 47 3 6 PAX9 0 genome.wustl.edu 37 14 37132207 37132207 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 37132207 37132207 T C SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.110 p.I37T 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 64 0 0 51 5 8.92857 PELI2 0 genome.wustl.edu 37 14 56755227 56755227 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 56755227 56755227 G A SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known missense c.382 p.E128K 0.999 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 39 0 0 42 20 32.2581 AP5M1 0 genome.wustl.edu 37 14 57741440 57741440 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 57741440 57741440 A G SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known missense c.553 p.N185D 0.000 NULL pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 141 0 0 101 47 31.7568 ACTR10 0 genome.wustl.edu 37 14 58678087 58678087 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 58678087 58678087 T A SNP ACTR10 ENST00000254286 human ensembl 74_37 +1 known missense c.420 p.D140E 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR10 HGNC ENSG00000131966 294 0 0 199 180 47.4934 SNAPC1 0 genome.wustl.edu 37 14 62248987 62248987 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 62248987 62248987 G A SNP SNAPC1 ENST00000216294 human ensembl 74_37 +1 known missense c.848 p.R283H 1.000 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 124 0 0 79 54 40.6015 SYNE2 0 genome.wustl.edu 37 14 64522715 64522715 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 64522715 64522715 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.9798 p.T3266 0.385 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 88 0 0 51 32 38.5542 TMEM229B 0 genome.wustl.edu 37 14 67940344 67940344 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 67940344 67940344 G A SNP TMEM229B ENST00000357461 human ensembl 74_37 -1 known silent c.297 p.N99 1.000 pfam_DUF1113_TMEM229 pfam_DUF1113_TMEM229 - no_errors TMEM229B HGNC ENSG00000198133 10 0 0 9 3 25 DCAF5 0 genome.wustl.edu 37 14 69521972 69521972 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 69521972 69521972 G A SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known silent c.1431 p.A477 0.069 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 64 0 0 47 22 31.8841 SIPA1L1 0 genome.wustl.edu 37 14 72190527 72190527 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 72190527 72190527 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.4435 p.A1479T 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 220 0 0 125 89 41.5888 DPF3 0 genome.wustl.edu 37 14 73137952 73137952 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 73137952 73137952 C T SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known silent c.1131 p.T377 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 84 0 0 44 45 50.5618 DCAF4 0 genome.wustl.edu 37 14 73425339 73425339 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 73425339 73425339 G A SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known silent c.1314 p.T438 0.108 superfamily_WD40_repeat_dom,smart_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 DCAF4 HGNC ENSG00000119599 58 0 0 55 32 36.7816 PAPLN 0 genome.wustl.edu 37 14 73727431 73727431 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 73727431 73727431 C A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.2000 p.P667H 0.973 NULL pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 36 0 0 31 18 36.7347 ZNF410 0 genome.wustl.edu 37 14 74371775 74371775 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 74371775 74371775 G A SNP ZNF410 ENST00000555044 human ensembl 74_37 +1 known missense c.902 p.R301H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 79 0 0 44 34 43.5897 RPS6KL1 0 genome.wustl.edu 37 14 75373815 75373815 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 75373815 75373815 C T SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known missense c.1552 p.E518K 0.968 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_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 142 0 0 74 69 48.2517 TTLL5 0 genome.wustl.edu 37 14 76249812 76249812 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 76249812 76249812 C A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known silent c.2925 p.S975 0.895 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 153 0 0 92 56 37.8378 SPTLC2 0 genome.wustl.edu 37 14 78063576 78063576 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 78063576 78063576 A G SNP SPTLC2 ENST00000216484 human ensembl 74_37 -1 known missense c.280 p.W94R 1.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC2 HGNC ENSG00000100596 97 0 0 60 42 41.1765 SLIRP 0 genome.wustl.edu 37 14 78174534 78174534 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 78174534 78174534 C T SNP SLIRP ENST00000557342 human ensembl 74_37 +1 known missense c.80 p.P27L 0.993 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SLIRP HGNC ENSG00000119705 62 0 0 45 32 41.5584 NRXN3 0 genome.wustl.edu 37 14 79181439 79181439 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 79181439 79181439 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.1995 p.C665 0.090 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 81 0 0 62 36 36.7347 STON2 0 genome.wustl.edu 37 14 81744393 81744393 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 81744393 81744393 C T SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.1262 p.R421Q 0.000 pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 203 1 0.490196 142 103 42.0408 STON2 0 genome.wustl.edu 37 14 81744680 81744680 + Silent SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 81744680 81744680 G T SNP STON2 ENST00000267540 human ensembl 74_37 -1 known silent c.975 p.P325 0.997 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 178 0 0 118 65 35.5191 ADAMTS17 0 genome.wustl.edu 37 15 100649204 100649204 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 100649204 100649204 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.2006 p.G669D 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 97 0 0 106 17 13.8211 ADAMTS17 0 genome.wustl.edu 37 15 100692868 100692868 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 100692868 100692868 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known silent c.1422 p.E474 1.000 smart_ADAM_Cys-rich pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 156 0 0 130 14 9.72222 SNORD116-26 0 genome.wustl.edu 37 15 25344728 25344728 + RNA SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 25344728 25344728 G C SNP SNORD116-26 ENST00000516006 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNORD116-26 HGNC ENSG00000251815 113 0 0 78 45 36.5854 SNHG14 0 genome.wustl.edu 37 15 25477382 25477382 + RNA SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 25477382 25477382 A T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors SNHG14 HGNC ENSG00000224078 50 0 0 20 11 35.4839 HERC2 0 genome.wustl.edu 37 15 28443768 28443768 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 28443768 28443768 A T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.7864 p.Y2622N 1.000 pfam_CPH_domain pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 188 0 0 125 76 37.8109 HERC2 0 genome.wustl.edu 37 15 28446681 28446681 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 28446681 28446681 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.7637 p.T2546M 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 151 0 0 112 68 37.7778 GOLGA6L7P 0 genome.wustl.edu 37 15 29092258 29092258 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 29092258 29092258 G A SNP GOLGA6L7P ENST00000569815 human ensembl 74_37 -1 putative rna NULL NULL 0.060 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 34 0 0 16 7 30.4348 APBA2 0 genome.wustl.edu 37 15 29406137 29406137 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 29406137 29406137 G A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.2096 p.R699H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 96 0 0 48 36 42.8571 FMN1 0 genome.wustl.edu 37 15 33359153 33359153 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 33359153 33359153 C T SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known silent c.933 p.T311 0.986 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 94 0 0 47 35 42.6829 AQR 0 genome.wustl.edu 37 15 35182476 35182476 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 35182476 35182476 C T SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.2621 p.R874H 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 267 0 0 265 40 13.1148 RASGRP1 0 genome.wustl.edu 37 15 38786607 38786607 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 38786607 38786607 C T SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known silent c.2235 p.L745 0.900 NULL pfam_RasGRF_CDC25,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,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 53 0 0 35 19 35.1852 BMF 0 genome.wustl.edu 37 15 40396430 40396430 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 40396430 40396430 C T SNP BMF ENST00000354670 human ensembl 74_37 -1 known missense c.404 p.R135Q 1.000 NULL NULL - no_errors BMF HGNC ENSG00000104081 286 0 0 271 47 14.7799 VPS18 0 genome.wustl.edu 37 15 41191717 41191717 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 41191717 41191717 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.701 p.R234Q 0.916 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 175 0 0 118 88 42.7184 VPS18 0 genome.wustl.edu 37 15 41192111 41192111 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 41192111 41192111 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known silent c.1095 p.P365 0.001 pfam_Pep3_Vps18 pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 78 0 0 86 6 6.52174 VPS18 0 genome.wustl.edu 37 15 41192635 41192635 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 41192635 41192635 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.1619 p.R540Q 1.000 superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 179 0 0 125 67 34.8958 MGA 0 genome.wustl.edu 37 15 42041783 42041783 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 42041783 42041783 T G SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5978 p.V1993G 0.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 133 0 0 78 53 40.458 SERINC4 0 genome.wustl.edu 37 15 44087241 44087241 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 44087241 44087241 C T SNP SERINC4 ENST00000249714 human ensembl 74_37 -1 known missense c.782 p.R261H 0.282 NULL pfam_TMS_TDE - no_errors SERINC4 HGNC ENSG00000184716 123 1 0.806452 80 45 36 C15orf43 0 genome.wustl.edu 37 15 45249094 45249094 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 45249094 45249094 T C SNP C15orf43 ENST00000340827 human ensembl 74_37 +1 known missense c.65 p.V22A 1.000 NULL NULL - no_errors C15orf43 HGNC ENSG00000167014 93 0 0 103 12 10.4348 HDC 0 genome.wustl.edu 37 15 50534778 50534778 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 50534778 50534778 C T SNP HDC ENST00000267845 human ensembl 74_37 -1 known silent c.1668 p.E556 0.988 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 217 0 0 124 76 38 CYP19A1 0 genome.wustl.edu 37 15 51504657 51504657 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 51504657 51504657 G A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known missense c.1123 p.R375C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 217 0 0 175 100 36.3636 LEO1 0 genome.wustl.edu 37 15 52244164 52244164 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 52244164 52244164 C T SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known silent c.1488 p.T496 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 172 0 0 118 78 39.7959 MYO5A 0 genome.wustl.edu 37 15 52606371 52606371 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 52606371 52606371 T C SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known silent c.5439 p.P1813 0.915 pfam_Dil_domain,superfamily_Skp1_comp_dimer,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 138 0 0 83 41 33.0645 UNC13C 0 genome.wustl.edu 37 15 54586261 54586261 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 54586261 54586261 A C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3987 p.L1329F 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 230 0 0 224 12 5.08475 TLN2 0 genome.wustl.edu 37 15 63044602 63044602 + Nonsense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 63044602 63044602 T A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known nonsense c.4308 p.C1436* 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 107 0 0 58 40 40.8163 TLN2 0 genome.wustl.edu 37 15 63053883 63053883 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 63053883 63053883 C A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.4642 p.L1548M 0.999 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 197 0 0 181 11 5.72917 TPM1 0 genome.wustl.edu 37 15 63356328 63356328 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 63356328 63356328 G A SNP TPM1 ENST00000288398 human ensembl 74_37 +1 known missense c.838 p.D280N 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM1 HGNC ENSG00000140416 45 0 0 20 13 39.3939 ZNF609 0 genome.wustl.edu 37 15 64792134 64792134 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 64792134 64792134 C T SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known silent c.516 p.S172 0.987 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 43 0 0 39 4 9.30233 PIF1 0 genome.wustl.edu 37 15 65110214 65110214 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 65110214 65110214 C T SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known silent c.1605 p.G535 0.702 pfam_DNA_helicase_Pif1,superfamily_P-loop_NTPase pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 16 0 0 10 13 56.5217 CORO2B 0 genome.wustl.edu 37 15 69011561 69011561 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 69011561 69011561 G T SNP CORO2B ENST00000566799 human ensembl 74_37 +1 known missense c.1159 p.G387C 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 107 0 0 70 39 35.7798 KIF23 0 genome.wustl.edu 37 15 69733281 69733281 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 69733281 69733281 C T SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known missense c.2242 p.R748C 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 79 0 0 42 39 48.1481 ISLR 0 genome.wustl.edu 37 15 74467395 74467395 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 74467395 74467395 C A SNP ISLR ENST00000249842 human ensembl 74_37 +1 known missense c.196 p.P66T 0.004 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 98 0 0 111 19 14.6154 CLK3 0 genome.wustl.edu 37 15 74920982 74920982 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 74920982 74920982 A C SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.1607 p.K536T 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_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 CLK3 HGNC ENSG00000179335 53 0 0 43 21 32.8125 SIN3A 0 genome.wustl.edu 37 15 75664509 75664509 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 75664509 75664509 C A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.3633 p.Q1211H 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 179 0 0 122 88 41.9048 PEAK1 0 genome.wustl.edu 37 15 77471360 77471360 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 77471360 77471360 C T SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.2909 p.R970H 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,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 93 0 0 82 14 14.5833 CHRNA3 0 genome.wustl.edu 37 15 78894269 78894269 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 78894269 78894269 G A SNP CHRNA3 ENST00000326828 human ensembl 74_37 -1 known missense c.715 p.R239C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 46 0 0 36 28 43.75 KIAA1199 0 genome.wustl.edu 37 15 81176550 81176550 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 81176550 81176550 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.652 p.R218C 0.992 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 283 0 0 240 43 15.1943 EFTUD1 0 genome.wustl.edu 37 15 82444436 82444436 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 82444436 82444436 C T SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known missense c.2359 p.E787K 0.001 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 203 0 0 126 71 36.0406 FSD2 0 genome.wustl.edu 37 15 83451733 83451733 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 83451733 83451733 G A SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known silent c.780 p.N260 0.127 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 371 1 0.268817 230 148 39.1534 WHAMM 0 genome.wustl.edu 37 15 83499687 83499687 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 83499687 83499687 C T SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known missense c.1978 p.R660C 0.020 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 29 0 0 23 17 42.5 ZNF592 0 genome.wustl.edu 37 15 85342439 85342439 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 85342439 85342439 C T SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known silent c.3135 p.C1045 0.997 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 170 0 0 120 95 44.186 KLHL25 0 genome.wustl.edu 37 15 86312998 86312998 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 86312998 86312998 G A SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known missense c.44 p.T15M 0.999 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 45 0 0 38 26 40.625 AEN 0 genome.wustl.edu 37 15 89173290 89173290 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 89173290 89173290 T C SNP AEN ENST00000379231 human ensembl 74_37 +1 known missense c.743 p.V248A 0.986 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 77 0 0 43 15 25.8621 IGF1R 0 genome.wustl.edu 37 15 99491899 99491899 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 99491899 99491899 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.3684 p.G1228 0.057 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 169 0 0 163 28 14.6597 CACNA1H 0 genome.wustl.edu 37 16 1255203 1255203 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 1255203 1255203 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known silent c.2541 p.C847 0.276 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 44 0 0 33 19 36.5385 CACNA1H 0 genome.wustl.edu 37 16 1257402 1257402 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 1257402 1257402 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.3035 p.A1012V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 27 0 0 18 5 21.7391 NPRL3 0 genome.wustl.edu 37 16 138812 138812 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 138812 138812 C T SNP NPRL3 ENST00000399953 human ensembl 74_37 -1 known silent c.1428 p.S476 0.001 NULL pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 18 0 0 25 2 7.40741 KIAA0430 0 genome.wustl.edu 37 16 15719582 15719582 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 15719582 15719582 G A SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.1600 p.R534C 1.000 pfam_Limkain_b1_cons_dom,smart_RRM_dom pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 164 0 0 81 70 46.3576 ABCC6 0 genome.wustl.edu 37 16 16291913 16291913 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 16291913 16291913 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.1303 p.V435I 0.010 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 34 0 0 23 12 34.2857 TMC7 0 genome.wustl.edu 37 16 19033117 19033117 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 19033117 19033117 G T SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.627 p.M209I 0.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 143 0 0 76 56 42.4242 DNAH3 0 genome.wustl.edu 37 16 21109957 21109957 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 21109957 21109957 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.2500 p.R834W 0.010 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 298 0 0 208 127 37.9104 ANKS4B 0 genome.wustl.edu 37 16 21245076 21245076 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 21245076 21245076 C T SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known silent c.18 p.H6 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 345 0 0 214 119 35.7357 PKD1 0 genome.wustl.edu 37 16 2140354 2140354 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 2140354 2140354 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.12376 p.D4126N 1.000 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 78 0 0 56 25 30.8642 PKD1 0 genome.wustl.edu 37 16 2164381 2164381 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 2164381 2164381 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.2643 p.F881 0.000 pfam_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 25 0 0 16 11 40.7407 USP31 0 genome.wustl.edu 37 16 23119471 23119471 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 23119471 23119471 C T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.667 p.G223R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 120 0 0 69 40 36.6972 RBBP6 0 genome.wustl.edu 37 16 24582802 24582802 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 24582802 24582802 A T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.4415 p.D1472V 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 72 0 0 76 5 6.17284 TNRC6A 0 genome.wustl.edu 37 16 24817979 24817979 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 24817979 24817979 C T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4414 p.P1472S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 95 0 0 61 41 40.1961 ZKSCAN2 0 genome.wustl.edu 37 16 25258441 25258441 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 25258441 25258441 C T SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known missense c.1076 p.R359H 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 193 0 0 119 94 44.1315 SRRM2 0 genome.wustl.edu 37 16 2819139 2819139 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 2819139 2819139 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.7875 p.S2625 0.992 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 83 0 0 78 7 8.23529 CD19 0 genome.wustl.edu 37 16 28943679 28943679 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 28943679 28943679 C T SNP CD19 ENST00000538922 human ensembl 74_37 +1 known missense c.101 p.A34V 0.061 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD19 HGNC ENSG00000177455 45 0 0 28 10 26.3158 SEZ6L2 0 genome.wustl.edu 37 16 29888190 29888190 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 29888190 29888190 C T SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.1991 p.R664Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 11 0 0 14 12 46.1538 ASPHD1 0 genome.wustl.edu 37 16 29913086 29913086 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 29913086 29913086 G A SNP ASPHD1 ENST00000308748 human ensembl 74_37 +1 known missense c.794 p.C265Y 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 44 0 0 21 12 36.3636 SRCAP 0 genome.wustl.edu 37 16 30749660 30749660 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 30749660 30749660 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.8299 p.R2767W 0.999 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 40 0 0 20 15 42.8571 THOC6 0 genome.wustl.edu 37 16 3077501 3077501 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 3077501 3077501 G A SNP THOC6 ENST00000326266 human ensembl 74_37 +1 known silent c.945 p.K315 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors THOC6 HGNC ENSG00000131652 65 0 0 24 24 50 PRSS36 0 genome.wustl.edu 37 16 31154711 31154711 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 31154711 31154711 G A SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.1052 p.A351V 0.022 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 69 0 0 75 18 19.3548 ZSCAN10 0 genome.wustl.edu 37 16 3139421 3139421 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 3139421 3139421 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.1849 p.R617C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 24 0 0 29 5 14.7059 CLUAP1 0 genome.wustl.edu 37 16 3562425 3562425 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 3562425 3562425 A G SNP CLUAP1 ENST00000576634 human ensembl 74_37 +1 known missense c.442 p.T148A 1.000 pfam_Clusterin-associated_protein-1 pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 110 0 0 84 32 27.5862 SRL 0 genome.wustl.edu 37 16 4292031 4292031 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 4292031 4292031 G A SNP SRL ENST00000572111 human ensembl 74_37 -1 known missense c.38 p.S13L 0.826 NULL NULL - no_errors SRL HGNC ENSG00000185739 20 0 0 22 6 21.4286 VPS35 0 genome.wustl.edu 37 16 46715400 46715400 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 46715400 46715400 G A SNP VPS35 ENST00000299138 human ensembl 74_37 -1 known missense c.212 p.S71F 1.000 pfam_VPS35 pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 147 0 0 90 54 37.5 UBN1 0 genome.wustl.edu 37 16 4924216 4924216 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 4924216 4924216 C T SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known missense c.1805 p.S602L 0.144 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 362 0 0 313 57 15.4054 UBN1 0 genome.wustl.edu 37 16 4925259 4925259 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 4925259 4925259 G A SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known missense c.2848 p.V950I 0.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 113 0 0 52 60 53.5714 PPL 0 genome.wustl.edu 37 16 4943363 4943363 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 4943363 4943363 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.1501 p.D501N 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 35 0 0 15 12 44.4444 BRD7 0 genome.wustl.edu 37 16 50357571 50357571 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 50357571 50357571 T A SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known missense c.1370 p.Y457F 0.993 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 164 0 0 92 57 38.255 SALL1 0 genome.wustl.edu 37 16 51175249 51175249 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 51175249 51175249 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.884 p.A295V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 133 0 0 86 46 34.8485 IRX5 0 genome.wustl.edu 37 16 54966406 54966406 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 54966406 54966406 G A SNP IRX5 ENST00000558597 human ensembl 74_37 +1 putative silent c.48 p.P16 0.068 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 83 0 0 49 35 41.6667 IRX6 0 genome.wustl.edu 37 16 55363164 55363164 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 55363164 55363164 C T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1274 p.A425V 0.964 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 99 0 0 43 30 41.0959 SLC6A2 0 genome.wustl.edu 37 16 55690817 55690817 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 55690817 55690817 G A SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.211 p.G71S 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 108 0 0 64 34 34.6939 CPNE2 0 genome.wustl.edu 37 16 57181369 57181369 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 57181369 57181369 C T SNP CPNE2 ENST00000565951 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CPNE2 HGNC ENSG00000140848 34 0 0 24 24 50 CDH8 0 genome.wustl.edu 37 16 61687979 61687979 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 61687979 61687979 G A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1933 p.R645W 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 178 0 0 98 76 43.6782 CDH5 0 genome.wustl.edu 37 16 66426078 66426078 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 66426078 66426078 G A SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.1009 p.V337I 0.141 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 230 0 0 148 111 42.8571 B3GNT9 0 genome.wustl.edu 37 16 67183811 67183811 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 67183811 67183811 A T SNP B3GNT9 ENST00000449549 human ensembl 74_37 -1 known missense c.578 p.L193Q 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 18 0 0 15 4 21.0526 PLEKHG4 0 genome.wustl.edu 37 16 67322195 67322195 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 67322195 67322195 C A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.3346 p.L1116M 0.996 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 179 0 0 177 10 5.34759 TSNAXIP1 0 genome.wustl.edu 37 16 67859956 67859956 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 67859956 67859956 G A SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.959 p.R320Q 0.993 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 40 0 0 29 32 52.459 PLA2G15 0 genome.wustl.edu 37 16 68289275 68289275 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 68289275 68289275 G A SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known missense c.494 p.R165Q 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 40 0 0 44 7 13.7255 PRMT7 0 genome.wustl.edu 37 16 68349807 68349807 + RNA SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 68349807 68349807 A G SNP PRMT7 ENST00000563562 human ensembl 74_37 +1 known rna NULL NULL 0.175 - - - no_errors PRMT7 HGNC ENSG00000132600 14 0 0 14 4 22.2222 ZFP90 0 genome.wustl.edu 37 16 68597365 68597365 + Silent SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 68597365 68597365 G T SNP ZFP90 ENST00000398253 human ensembl 74_37 +1 known silent c.675 p.S225 0.108 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 ZFP90 HGNC ENSG00000184939 194 0 0 140 95 40.4255 CDH3 0 genome.wustl.edu 37 16 68732231 68732231 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 68732231 68732231 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known silent c.2418 p.Y806 0.993 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 87 0 0 70 44 38.5965 TMED6 0 genome.wustl.edu 37 16 69377541 69377541 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 69377541 69377541 G A SNP TMED6 ENST00000288025 human ensembl 74_37 -1 known silent c.492 p.D164 0.976 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED6 HGNC ENSG00000157315 230 1 0.4329 146 96 39.6694 HYDIN 0 genome.wustl.edu 37 16 71163613 71163613 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 71163613 71163613 G A SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.1157 p.A386V 0.973 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 88 0 0 51 33 39.2857 PHLPP2 0 genome.wustl.edu 37 16 71683907 71683907 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 71683907 71683907 A C SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.2858 p.L953R 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 104 0 0 55 35 38.8889 ZFHX3 0 genome.wustl.edu 37 16 72993370 72993370 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 72993370 72993370 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.675 p.S225 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 ZFHX3 HGNC ENSG00000140836 235 0 0 160 78 32.7731 CHST6 0 genome.wustl.edu 37 16 75513508 75513508 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 75513508 75513508 C T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known silent c.219 p.A73 0.163 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 43 0 0 22 12 35.2941 ADAMTS18 0 genome.wustl.edu 37 16 77401409 77401409 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 77401409 77401409 G T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.707 p.S236Y 0.003 NULL 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 136 0 0 105 46 30.4636 PLCG2 0 genome.wustl.edu 37 16 81944273 81944273 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 81944273 81944273 G A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.1882 p.E628K 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 205 0 0 151 93 38.1148 MBTPS1 0 genome.wustl.edu 37 16 84096957 84096957 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 84096957 84096957 A G SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.2525 p.V842A 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 136 0 0 77 60 43.7956 CHTF18 0 genome.wustl.edu 37 16 846041 846041 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 846041 846041 G A SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known missense c.3047 p.R1016H 0.998 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 8 0 0 6 6 50 CRISPLD2 0 genome.wustl.edu 37 16 84940242 84940242 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 84940242 84940242 G A SNP CRISPLD2 ENST00000262424 human ensembl 74_37 +1 known silent c.1488 p.R496 1.000 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD2 HGNC ENSG00000103196 169 1 0.588235 119 68 36.3636 METTL22 0 genome.wustl.edu 37 16 8722842 8722842 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 8722842 8722842 C T SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.389 p.A130V 0.002 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 207 0 0 130 91 41.1765 ZCCHC14 0 genome.wustl.edu 37 16 87445308 87445308 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 87445308 87445308 A G SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.2608 p.F870L 0.135 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 93 0 0 54 27 33.3333 ZNF778 0 genome.wustl.edu 37 16 89291990 89291990 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 89291990 89291990 C T SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known missense c.272 p.A91V 0.019 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF778 HGNC ENSG00000170100 37 0 0 37 3 7.5 TUBB3 0 genome.wustl.edu 37 16 90002143 90002143 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 90002143 90002143 C T SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known silent c.1284 p.A428 1.000 superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 99 0 0 57 53 48.1818 MYH13 0 genome.wustl.edu 37 17 10214487 10214487 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 10214487 10214487 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4589 p.A1530V 0.991 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 141 0 0 93 52 35.8621 MYH8 0 genome.wustl.edu 37 17 10309612 10309612 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 10309612 10309612 T C SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.2274 p.Q758 0.984 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 135 0 0 101 6 5.60748 MYH2 0 genome.wustl.edu 37 17 10427956 10427956 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 10427956 10427956 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.5002 p.R1668W 0.991 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 123 0 0 73 40 35.3982 MYH3 0 genome.wustl.edu 37 17 10535238 10535238 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 10535238 10535238 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.5052 p.A1684 0.860 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 75 0 0 73 9 10.9756 SCO1 0 genome.wustl.edu 37 17 10600694 10600694 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 10600694 10600694 A T SNP SCO1 ENST00000255390 human ensembl 74_37 -1 known missense c.131 p.F44Y 0.001 pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO1 HGNC ENSG00000133028 15 0 0 13 8 38.0952 PITPNA 0 genome.wustl.edu 37 17 1456410 1456410 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 1456410 1456410 C T SNP PITPNA ENST00000313486 human ensembl 74_37 -1 known missense c.85 p.A29T 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNA HGNC ENSG00000174238 106 0 0 96 24 20 CDRT4 0 genome.wustl.edu 37 17 15341260 15341260 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 15341260 15341260 A T SNP CDRT4 ENST00000312177 human ensembl 74_37 -1 known missense c.286 p.S96T 0.001 NULL superfamily_RNA_pol_subH/Rpb5_C - no_errors CDRT4 HGNC ENSG00000239704 168 0 0 141 27 16.0714 PIGL 0 genome.wustl.edu 37 17 16221154 16221154 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 16221154 16221154 C T SNP PIGL ENST00000225609 human ensembl 74_37 +1 known missense c.592 p.P198S 1.000 superfamily_LmbE-like_dom pfam_GlcNAc_PI_deacetylase-related,superfamily_LmbE-like_dom - no_errors PIGL HGNC ENSG00000108474 169 1 0.588235 123 46 27.2189 TOM1L2 0 genome.wustl.edu 37 17 17772673 17772673 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 17772673 17772673 C T SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known missense c.892 p.V298I 0.999 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 68 0 0 46 22 32.3529 LRRC48 0 genome.wustl.edu 37 17 17900948 17900948 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 17900948 17900948 G A SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known silent c.999 p.S333 0.907 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 17 0 0 8 6 42.8571 MYO15A 0 genome.wustl.edu 37 17 18023744 18023744 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 18023744 18023744 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.1630 p.R544C 0.743 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 11 0 0 6 8 57.1429 TRIM16L 0 genome.wustl.edu 37 17 18631034 18631034 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 18631034 18631034 C T SNP TRIM16L ENST00000395902 human ensembl 74_37 +1 known missense c.326 p.T109M 0.989 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors TRIM16L HGNC ENSG00000108448 118 0 0 89 49 35.5072 CLUH 0 genome.wustl.edu 37 17 2595920 2595920 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 2595920 2595920 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.3266 p.R1089H 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 13 0 0 10 5 33.3333 SLC46A1 0 genome.wustl.edu 37 17 26723121 26723121 + RNA SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 26723121 26723121 A G SNP SLC46A1 ENST00000583295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A1 HGNC ENSG00000076351 97 0 0 67 33 33 SLC13A2 0 genome.wustl.edu 37 17 26817568 26817568 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 26817568 26817568 G A SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.475 p.A159T 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 125 1 0.793651 92 40 30.303 KIAA0100 0 genome.wustl.edu 37 17 26942696 26942696 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 26942696 26942696 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.6511 p.A2171T 1.000 pfam_FMP27_C pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 87 0 0 57 39 40.625 CCL11 0 genome.wustl.edu 37 17 32614701 32614701 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 32614701 32614701 A G SNP CCL11 ENST00000305869 human ensembl 74_37 +1 known missense c.286 p.K96E 0.004 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL11 HGNC ENSG00000172156 39 0 0 38 8 17.3913 SLFN11 0 genome.wustl.edu 37 17 33690471 33690471 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 33690471 33690471 C T SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.356 p.R119H 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 144 0 0 67 47 41.2281 ENSG00000266999 0 genome.wustl.edu 37 17 34233554 34233554 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 34233554 34233554 G A SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 47 0 0 47 13 21.6667 MYO19 0 genome.wustl.edu 37 17 34856778 34856778 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 34856778 34856778 G A SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known missense c.2269 p.R757C 0.330 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 40 0 0 28 21 42.8571 ACACA 0 genome.wustl.edu 37 17 35445936 35445936 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 35445936 35445936 T C SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.6965 p.H2322R 0.991 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 311 1 0.320513 171 139 44.8387 ACACA 0 genome.wustl.edu 37 17 35583264 35583264 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 35583264 35583264 C T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.3356 p.R1119H 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 575 0 0 366 256 41.1576 GPR179 0 genome.wustl.edu 37 17 36482648 36482648 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 36482648 36482648 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.6804 p.P2268 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 227 1 0.438596 111 74 40 PSMB3 0 genome.wustl.edu 37 17 36912143 36912143 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 36912143 36912143 C T SNP PSMB3 ENST00000225426 human ensembl 74_37 +1 known missense c.196 p.R66C 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB3 HGNC ENSG00000108294 97 0 0 59 44 42.7184 KRT27 0 genome.wustl.edu 37 17 38936701 38936701 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 38936701 38936701 T C SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.535 p.N179D 0.972 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 22 0 0 35 7 16.6667 KRT12 0 genome.wustl.edu 37 17 39020028 39020028 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 39020028 39020028 T A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.896 p.N299I 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 75 0 0 60 14 18.9189 KRTAP4-12 0 genome.wustl.edu 37 17 39279857 39279857 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 39279857 39279857 C T SNP KRTAP4-12 ENST00000394014 human ensembl 74_37 -1 known missense c.518 p.R173Q 0.213 NULL pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC ENSG00000213416 23 0 0 11 6 35.2941 CNTNAP1 0 genome.wustl.edu 37 17 40843980 40843980 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 40843980 40843980 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.2501 p.R834H 0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 233 0 0 152 109 41.7625 ANKFY1 0 genome.wustl.edu 37 17 4086805 4086805 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 4086805 4086805 C T SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.1966 p.A656T 0.483 superfamily_Ankyrin_rpt-contain_dom,smart_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 163 0 0 120 17 12.4088 WNK4 0 genome.wustl.edu 37 17 40936583 40936583 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 40936583 40936583 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.1156 p.R386C 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_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 43 0 0 22 10 31.25 G6PC 0 genome.wustl.edu 37 17 41063035 41063035 + Silent SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 41063035 41063035 A T SNP G6PC ENST00000253801 human ensembl 74_37 +1 known silent c.666 p.G222 0.976 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC ENSG00000131482 134 0 0 78 52 40 FZD2 0 genome.wustl.edu 37 17 42636437 42636437 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 42636437 42636437 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1381 p.R461C 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 67 0 0 59 23 28.0488 NSF 0 genome.wustl.edu 37 17 44770370 44770370 + Silent SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 44770370 44770370 T G SNP NSF ENST00000398238 human ensembl 74_37 +1 known silent c.1047 p.T349 0.456 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors NSF HGNC ENSG00000073969 100 0 0 63 5 7.35294 MYL4 0 genome.wustl.edu 37 17 45299152 45299152 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 45299152 45299152 C T SNP MYL4 ENST00000354968 human ensembl 74_37 +1 known missense c.418 p.R140C 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors MYL4 HGNC ENSG00000198336 112 0 0 113 17 13.0769 PLD2 0 genome.wustl.edu 37 17 4722789 4722789 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 4722789 4722789 G A SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.2374 p.E792K 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 45 0 0 23 24 51.0638 RSAD1 0 genome.wustl.edu 37 17 48559584 48559584 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 48559584 48559584 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known nonsense c.607 p.Q203* 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 70 0 0 58 31 34.8315 ENO3 0 genome.wustl.edu 37 17 4856581 4856581 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 4856581 4856581 G A SNP ENO3 ENST00000323997 human ensembl 74_37 +1 known silent c.255 p.V85 1.000 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 251 0 0 174 120 40.8163 CAMTA2 0 genome.wustl.edu 37 17 4876497 4876497 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 4876497 4876497 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.2322 p.N774 0.971 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 96 0 0 89 15 14.4231 CAMTA2 0 genome.wustl.edu 37 17 4876881 4876881 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 4876881 4876881 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.2269 p.R757W 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 26 0 0 18 10 35.7143 KIF1C 0 genome.wustl.edu 37 17 4906103 4906103 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 4906103 4906103 G T SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.686 p.C229F 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 127 0 0 86 48 35.8209 HSF5 0 genome.wustl.edu 37 17 56536295 56536295 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 56536295 56536295 G T SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known missense c.1554 p.N518K 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 424 0 0 248 148 37.3737 PPM1E 0 genome.wustl.edu 37 17 57050270 57050270 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 57050270 57050270 G A SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known silent c.1194 p.S398 0.158 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 106 0 0 71 53 42.7419 TLK2 0 genome.wustl.edu 37 17 60558534 60558534 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 60558534 60558534 G A SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known silent c.48 p.L16 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 TLK2 HGNC ENSG00000146872 102 0 0 71 40 36.036 ACE 0 genome.wustl.edu 37 17 61557223 61557223 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 61557223 61557223 C T SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.605 p.P202L 0.001 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 52 0 0 37 29 43.9394 KCNH6 0 genome.wustl.edu 37 17 61619795 61619795 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 61619795 61619795 C T SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known silent c.2148 p.D716 0.984 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 57 0 0 35 27 43.5484 KCNH6 0 genome.wustl.edu 37 17 61620997 61620997 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 61620997 61620997 T C SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.2209 p.F737L 0.789 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 98 0 0 64 33 34.0206 SCN4A 0 genome.wustl.edu 37 17 62025282 62025282 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 62025282 62025282 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.3286 p.A1096T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 48 0 0 25 19 43.1818 SCN4A 0 genome.wustl.edu 37 17 62049998 62049998 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 62049998 62049998 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.204 p.Y68 0.430 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 11 0 0 8 8 50 TEX2 0 genome.wustl.edu 37 17 62291193 62291193 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 62291193 62291193 T C SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.385 p.T129A 0.999 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 212 0 0 180 35 16.2791 AXIN2 0 genome.wustl.edu 37 17 63554010 63554010 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 63554010 63554010 A G SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known silent c.729 p.L243 0.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 151 0 0 162 12 6.89655 PITPNM3 0 genome.wustl.edu 37 17 6374548 6374548 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 6374548 6374548 G A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.1557 p.S519 0.918 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 25 0 0 21 10 32.2581 KCNJ2 0 genome.wustl.edu 37 17 68171571 68171571 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 68171571 68171571 G A SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.391 p.A131T 0.999 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 191 0 0 161 85 34.5528 NEURL4 0 genome.wustl.edu 37 17 7221432 7221432 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 7221432 7221432 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.4012 p.E1338K 1.000 NULL pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 160 0 0 154 22 12.5 TTYH2 0 genome.wustl.edu 37 17 72227069 72227069 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 72227069 72227069 C T SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known silent c.345 p.N115 0.907 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 76 0 0 53 31 36.9048 DNAH17 0 genome.wustl.edu 37 17 76557880 76557880 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 76557880 76557880 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.1752 p.P584 0.300 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 35 0 0 16 15 48.3871 DNAH2 0 genome.wustl.edu 37 17 7671512 7671512 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 7671512 7671512 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.3868 p.R1290C 0.994 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 254 0 0 173 123 41.5541 GAA 0 genome.wustl.edu 37 17 78090907 78090907 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 78090907 78090907 C T SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.2330 p.T777M 0.003 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 56 0 0 23 17 42.5 RNF213 0 genome.wustl.edu 37 17 78351588 78351588 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 78351588 78351588 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.13537 p.V4513M 0.724 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 299 1 0.333333 221 155 41.2234 RNF213 0 genome.wustl.edu 37 17 78356807 78356807 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 78356807 78356807 A G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.14007 p.S4669 0.999 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 63 0 0 38 30 44.1176 RNF213 0 genome.wustl.edu 37 17 78363150 78363150 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 78363150 78363150 A G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.15178 p.T5060A 0.972 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 83 0 0 61 4 6.15385 FASN 0 genome.wustl.edu 37 17 80039558 80039558 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 80039558 80039558 A G SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.6325 p.F2109L 1.000 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 71 0 0 91 5 5.20833 KRBA2 0 genome.wustl.edu 37 17 8272950 8272950 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 8272950 8272950 G A SNP KRBA2 ENST00000331336 human ensembl 74_37 -1 known silent c.981 p.G327 0.437 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core - no_errors KRBA2 HGNC ENSG00000184619 124 0 0 72 49 40.4959 ABR 0 genome.wustl.edu 37 17 970393 970393 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 970393 970393 A G SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.1106 p.V369A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 56 0 0 55 11 16.6667 TUBB6 0 genome.wustl.edu 37 18 12325459 12325459 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 12325459 12325459 A T SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.671 p.D224V 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 140 0 0 77 29 27.3585 ABHD3 0 genome.wustl.edu 37 18 19282375 19282375 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 19282375 19282375 G A SNP ABHD3 ENST00000577891 human ensembl 74_37 -1 known missense c.341 p.A114V 0.996 NULL NULL - no_errors ABHD3 HGNC ENSG00000158201 89 0 0 61 36 37.1134 MIB1 0 genome.wustl.edu 37 18 19395628 19395628 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 19395628 19395628 G A SNP MIB1 ENST00000261537 human ensembl 74_37 +1 known missense c.1531 p.A511T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 115 0 0 120 10 7.69231 CDH2 0 genome.wustl.edu 37 18 25543417 25543417 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 25543417 25543417 G A SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known silent c.2418 p.I806 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 72 0 0 78 10 11.3636 COLEC12 0 genome.wustl.edu 37 18 335158 335158 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 335158 335158 C T SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.1400 p.G467E 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 111 0 0 65 29 30.8511 ELP2 0 genome.wustl.edu 37 18 33718382 33718382 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 33718382 33718382 T C SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known silent c.438 p.G146 0.989 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 112 0 0 67 38 36.1905 SETBP1 0 genome.wustl.edu 37 18 42281711 42281711 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 42281711 42281711 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.400 p.K134E 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 87 0 0 85 13 13.2653 SETBP1 0 genome.wustl.edu 37 18 42532057 42532057 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 42532057 42532057 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2752 p.R918W 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 68 0 0 63 10 13.6986 SIGLEC15 0 genome.wustl.edu 37 18 43418864 43418864 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 43418864 43418864 G A SNP SIGLEC15 ENST00000389474 human ensembl 74_37 +1 known silent c.678 p.L226 0.997 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC15 HGNC ENSG00000197046 8 0 0 4 7 63.6364 CCDC11 0 genome.wustl.edu 37 18 47788456 47788456 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 47788456 47788456 T C SNP CCDC11 ENST00000398545 human ensembl 74_37 -1 known missense c.203 p.Q68R 0.003 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 252 1 0.395257 151 87 36.5546 CXXC1 0 genome.wustl.edu 37 18 47812478 47812478 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 47812478 47812478 C A SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.373 p.G125W 0.998 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 110 0 0 112 23 17.037 DCC 0 genome.wustl.edu 37 18 50976988 50976988 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 50976988 50976988 C T SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3348 p.I1116 0.004 pfam_Neogenin_C pfam_Neogenin_C,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 DCC HGNC ENSG00000187323 89 0 0 56 24 30 TCF4 0 genome.wustl.edu 37 18 52899750 52899750 + Splice_Site SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 52899750 52899750 A T SNP TCF4 ENST00000356073 human ensembl 74_37 -1 known splice_site c.1637+2 e16+2 1.000 - - - no_errors TCF4 HGNC ENSG00000196628 177 0 0 150 19 11.2426 ZNF532 0 genome.wustl.edu 37 18 56651281 56651281 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 56651281 56651281 G A SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known silent c.3489 p.L1163 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 118 0 0 105 16 13.2231 RTTN 0 genome.wustl.edu 37 18 67836277 67836277 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 67836277 67836277 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.1503 p.M501I 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 124 0 0 86 10 10.4167 ADNP2 0 genome.wustl.edu 37 18 77893685 77893685 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 77893685 77893685 C A SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.389 p.P130H 0.001 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 154 0 0 140 9 6.04027 ILF3 0 genome.wustl.edu 37 19 10800327 10800327 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 10800327 10800327 G A SNP ILF3 ENST00000586544 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors ILF3 HGNC ENSG00000129351 35 0 0 13 16 55.1724 SMARCA4 0 genome.wustl.edu 37 19 11145784 11145784 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 11145784 11145784 A G SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.4146 p.S1382 0.908 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 16 0 0 13 8 38.0952 KANK2 0 genome.wustl.edu 37 19 11303705 11303705 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 11303705 11303705 C T SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.1051 p.A351T 0.002 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 66 0 0 35 8 18.6047 PRKCSH 0 genome.wustl.edu 37 19 11558370 11558370 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 11558370 11558370 G A SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known silent c.966 p.E322 0.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 23 0 0 12 5 29.4118 ELAVL3 0 genome.wustl.edu 37 19 11569310 11569310 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 11569310 11569310 G A SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known silent c.450 p.R150 0.746 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 145 0 0 106 71 40.113 MAN2B1 0 genome.wustl.edu 37 19 12772078 12772078 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 12772078 12772078 G A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.1022 p.A341V 0.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 173 0 0 135 26 16.1491 HOOK2 0 genome.wustl.edu 37 19 12883718 12883718 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 12883718 12883718 C T SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known silent c.264 p.A88 0.358 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 125 0 0 81 32 28.3186 SYCE2 0 genome.wustl.edu 37 19 13010838 13010838 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 13010838 13010838 C T SNP SYCE2 ENST00000293695 human ensembl 74_37 -1 known missense c.592 p.V198M 0.000 NULL NULL - no_errors SYCE2 HGNC ENSG00000161860 31 0 0 31 7 18.4211 CCDC130 0 genome.wustl.edu 37 19 13869829 13869829 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 13869829 13869829 G T SNP CCDC130 ENST00000589096 human ensembl 74_37 +1 putative missense c.108 p.E36D 0.931 NULL pfam_CWC16 - no_errors CCDC130 HGNC ENSG00000104957 29 0 0 13 10 43.4783 RFX1 0 genome.wustl.edu 37 19 14090271 14090271 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 14090271 14090271 G A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known silent c.822 p.H274 0.909 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 121 0 0 79 54 40.6015 LPHN1 0 genome.wustl.edu 37 19 14273457 14273457 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 14273457 14273457 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.1171 p.R391C 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 169 0 0 101 70 40.9357 SLC1A6 0 genome.wustl.edu 37 19 15082660 15082660 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 15082660 15082660 G A SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.232 p.P78S 0.583 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 143 0 0 86 60 41.0959 SYDE1 0 genome.wustl.edu 37 19 15224480 15224480 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 15224480 15224480 C T SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known silent c.1914 p.R638 0.861 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 113 0 0 105 12 10.2564 AKAP8 0 genome.wustl.edu 37 19 15479059 15479059 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 15479059 15479059 G A SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.1147 p.R383C 1.000 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 54 0 0 27 32 54.2373 PGLYRP2 0 genome.wustl.edu 37 19 15582709 15582709 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 15582709 15582709 G A SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known silent c.1335 p.I445 0.957 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 45 0 0 27 7 20.5882 CYP4F22 0 genome.wustl.edu 37 19 15640536 15640536 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 15640536 15640536 C T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.239 p.A80V 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 53 0 0 57 10 14.9254 OR10H5 0 genome.wustl.edu 37 19 15905054 15905054 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 15905054 15905054 C A SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known missense c.196 p.L66I 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 149 0 0 103 46 30.8725 CPAMD8 0 genome.wustl.edu 37 19 17036177 17036177 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 17036177 17036177 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3517 p.V1173I 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 78 0 0 49 31 38.75 MYO9B 0 genome.wustl.edu 37 19 17298813 17298813 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 17298813 17298813 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.2647 p.R883C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 19 0 0 11 12 52.1739 ARRDC2 0 genome.wustl.edu 37 19 18120836 18120836 + Missense_Mutation SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 18120836 18120836 C G SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known missense c.837 p.D279E 0.998 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 61 0 0 113 7 5.83333 KLHL26 0 genome.wustl.edu 37 19 18779651 18779651 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 18779651 18779651 G A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.1444 p.D482N 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 47 0 0 26 19 42.2222 SUGP1 0 genome.wustl.edu 37 19 19388563 19388563 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 19388563 19388563 G A SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known silent c.1761 p.G587 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 56 0 0 37 8 17.7778 CILP2 0 genome.wustl.edu 37 19 19654065 19654065 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 19654065 19654065 A G SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.986 p.N329S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 66 0 0 42 35 45.4545 GMIP 0 genome.wustl.edu 37 19 19741100 19741100 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 19741100 19741100 C T SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.2585 p.R862H 0.997 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 45 0 0 27 19 41.3043 DOT1L 0 genome.wustl.edu 37 19 2222431 2222431 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 2222431 2222431 G A SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.3263 p.R1088Q 0.825 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 25 0 0 11 6 35.2941 ZNF675 0 genome.wustl.edu 37 19 23836431 23836431 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 23836431 23836431 C T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.1304 p.R435Q 0.000 pfam_Znf_C2H2,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 ZNF675 HGNC ENSG00000197372 147 0 0 81 43 34.6774 UQCRFS1 0 genome.wustl.edu 37 19 29698468 29698468 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 29698468 29698468 A G SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known missense c.812 p.V271A 0.980 superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 87 0 0 74 11 12.9412 LRP3 0 genome.wustl.edu 37 19 33693789 33693789 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 33693789 33693789 C T SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known missense c.157 p.R53W 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 27 0 0 15 9 37.5 PEPD 0 genome.wustl.edu 37 19 33878846 33878846 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 33878846 33878846 C T SNP PEPD ENST00000244137 human ensembl 74_37 -1 known missense c.1294 p.A432T 0.912 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 8 0 0 8 6 42.8571 CHST8 0 genome.wustl.edu 37 19 34263795 34263795 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 34263795 34263795 C A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.1102 p.L368M 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 62 0 0 44 6 12 KCTD15 0 genome.wustl.edu 37 19 34292185 34292185 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 34292185 34292185 C T SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known silent c.180 p.I60 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 92 0 0 47 29 38.1579 KIAA0355 0 genome.wustl.edu 37 19 34791601 34791601 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 34791601 34791601 G A SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.223 p.D75N 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 135 0 0 47 36 43.3735 LOC100506469 0 genome.wustl.edu 37 19 36034433 36034433 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 36034433 36034433 G A SNP LOC100506469 ENST00000588286 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 85 0 0 57 34 37.3626 ATP4A 0 genome.wustl.edu 37 19 36049337 36049337 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 36049337 36049337 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1427 p.G476D 1.000 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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 ATP4A HGNC ENSG00000105675 12 0 0 3 5 62.5 CACTIN 0 genome.wustl.edu 37 19 3619215 3619215 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 3619215 3619215 G A SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.706 p.R236W 1.000 pfam_Cactin_dom pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 18 0 0 13 9 40.9091 KMT2B 0 genome.wustl.edu 37 19 36215889 36215889 + Splice_Site SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 36215889 36215889 G T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known splice_site c.3430-1 e10-1 1.000 - - - no_errors KMT2B Uniprot_gn ENSG00000272333 49 0 0 41 23 35.9375 KMT2B 0 genome.wustl.edu 37 19 36223476 36223476 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 36223476 36223476 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.6026 p.A2009V 0.990 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 18 0 0 3 10 76.9231 LRFN3 0 genome.wustl.edu 37 19 36430917 36430917 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 36430917 36430917 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.590 p.A197V 0.994 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 124 0 0 97 47 32.6389 TBCB 0 genome.wustl.edu 37 19 36616721 36616721 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 36616721 36616721 G A SNP TBCB ENST00000468156 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TBCB HGNC ENSG00000105254 111 0 0 69 49 41.5254 ZNF568 0 genome.wustl.edu 37 19 37488248 37488248 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 37488248 37488248 G A SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known missense c.1463 p.R488Q 0.001 pfam_Znf_C2H2,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 ZNF568 HGNC ENSG00000198453 23 0 0 16 7 30.4348 ZNF585A 0 genome.wustl.edu 37 19 37647242 37647242 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 37647242 37647242 T C SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.88 p.R30G 0.976 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF585A HGNC ENSG00000196967 82 0 0 50 32 39.0244 ZNF585B 0 genome.wustl.edu 37 19 37676764 37676764 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 37676764 37676764 A G SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.1675 p.F559L 0.369 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 ZNF585B HGNC ENSG00000245680 145 0 0 87 57 39.5833 SIPA1L3 0 genome.wustl.edu 37 19 38597247 38597247 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 38597247 38597247 C A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.2100 p.T700 0.986 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 151 0 0 108 61 36.0947 LGALS7B 0 genome.wustl.edu 37 19 39281375 39281375 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 39281375 39281375 G A SNP LGALS7B ENST00000314980 human ensembl 74_37 +1 known missense c.142 p.A48T 0.750 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS7B HGNC ENSG00000178934 67 0 0 63 4 5.97015 NCCRP1 0 genome.wustl.edu 37 19 39690989 39690989 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 39690989 39690989 C T SNP NCCRP1 ENST00000339852 human ensembl 74_37 +1 known silent c.552 p.F184 0.036 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom - no_errors NCCRP1 HGNC ENSG00000188505 105 0 0 88 58 39.726 DYRK1B 0 genome.wustl.edu 37 19 40321029 40321029 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 40321029 40321029 C A SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.358 p.G120C 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1B HGNC ENSG00000105204 94 0 0 44 39 46.988 DYRK1B 0 genome.wustl.edu 37 19 40321086 40321086 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 40321086 40321086 C T SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.301 p.V101M 1.000 superfamily_Kinase-like_dom 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 DYRK1B HGNC ENSG00000105204 130 0 0 79 44 35.7724 DYRK1B 0 genome.wustl.edu 37 19 40321350 40321350 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 40321350 40321350 C T SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.137 p.R46H 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 DYRK1B HGNC ENSG00000105204 57 0 0 47 28 37.3333 FCGBP 0 genome.wustl.edu 37 19 40434017 40434017 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 40434017 40434017 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.252 p.P84 0.403 NULL 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 116 0 0 84 59 41.2587 ZNF780B 0 genome.wustl.edu 37 19 40541678 40541678 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 40541678 40541678 C T SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.1088 p.C363Y 0.707 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 ZNF780B HGNC ENSG00000128000 164 0 0 152 9 5.59006 PRX 0 genome.wustl.edu 37 19 40900414 40900414 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 40900414 40900414 G A SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.3845 p.S1282L 0.989 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 12 0 0 10 4 28.5714 SPTBN4 0 genome.wustl.edu 37 19 41081489 41081489 + RNA SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 41081489 41081489 G T SNP SPTBN4 ENST00000593816 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPTBN4 HGNC ENSG00000160460 41 0 0 28 16 36.3636 LTBP4 0 genome.wustl.edu 37 19 41113279 41113279 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 41113279 41113279 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.1201 p.V401M 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 19 0 0 13 9 40.9091 CREB3L3 0 genome.wustl.edu 37 19 4154961 4154961 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 4154961 4154961 C A SNP CREB3L3 ENST00000078445 human ensembl 74_37 +1 known missense c.93 p.D31E 0.230 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 138 0 0 94 66 41.25 CYP2F1 0 genome.wustl.edu 37 19 41627521 41627521 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 41627521 41627521 G A SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.643 p.E215K 0.996 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 171 0 0 123 85 40.8654 EXOSC5 0 genome.wustl.edu 37 19 41893465 41893465 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 41893465 41893465 C T SNP EXOSC5 ENST00000221233 human ensembl 74_37 -1 known missense c.569 p.R190Q 0.121 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC5 HGNC ENSG00000077348 20 0 0 8 3 27.2727 ATP1A3 0 genome.wustl.edu 37 19 42473602 42473602 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 42473602 42473602 A T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2673 p.S891R 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 ATP1A3 HGNC ENSG00000105409 153 0 0 132 52 28.2609 SH3GL1 0 genome.wustl.edu 37 19 4363832 4363832 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 4363832 4363832 T C SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known missense c.509 p.Y170C 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 87 0 0 72 4 5.26316 PLIN4 0 genome.wustl.edu 37 19 4511671 4511671 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 4511671 4511671 G A SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel silent c.2259 p.S753 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 150 0 0 116 55 32.1637 PLIN5 0 genome.wustl.edu 37 19 4523866 4523866 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 4523866 4523866 C T SNP PLIN5 ENST00000381848 human ensembl 74_37 -1 known missense c.1066 p.A356T 0.308 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 8 0 0 8 7 46.6667 RTN2 0 genome.wustl.edu 37 19 45989049 45989049 + Splice_Site SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 45989049 45989049 T G SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known splice_site c.1557-2 e11-2 0.970 - - - no_errors RTN2 HGNC ENSG00000125744 43 0 0 54 5 8.47458 OPA3 0 genome.wustl.edu 37 19 46087972 46087972 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 46087972 46087972 C T SNP OPA3 ENST00000323060 human ensembl 74_37 -1 known silent c.51 p.R17 1.000 pfam_OPA3-like pfam_OPA3-like - no_errors OPA3 HGNC ENSG00000125741 56 0 0 48 20 29.4118 EML2 0 genome.wustl.edu 37 19 46128026 46128026 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 46128026 46128026 G A SNP EML2 ENST00000587152 human ensembl 74_37 -1 known silent c.1395 p.G465 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 34 0 0 38 5 11.6279 SNRPD2 0 genome.wustl.edu 37 19 46190926 46190926 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 46190926 46190926 C T SNP SNRPD2 ENST00000342669 human ensembl 74_37 -1 known missense c.242 p.G81D 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 82 0 0 99 7 6.60377 PRKD2 0 genome.wustl.edu 37 19 47197162 47197162 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 47197162 47197162 C T SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.1546 p.A516T 0.840 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 98 0 0 79 42 34.7107 ZC3H4 0 genome.wustl.edu 37 19 47597337 47597337 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 47597337 47597337 G A SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.382 p.R128C 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 72 0 0 40 22 35.4839 GLTSCR2 0 genome.wustl.edu 37 19 48254791 48254791 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 48254791 48254791 C T SNP GLTSCR2 ENST00000246802 human ensembl 74_37 +1 known missense c.613 p.P205S 0.152 pfam_P60-like,pirsf_Gltscr2 pfam_P60-like,pirsf_Gltscr2 - no_errors GLTSCR2 HGNC ENSG00000105373 47 0 0 45 7 13.4615 PLA2G4C 0 genome.wustl.edu 37 19 48558274 48558274 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 48558274 48558274 G A SNP PLA2G4C ENST00000599111 human ensembl 74_37 -1 known silent c.1320 p.R440 0.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 148 0 0 136 27 16.5644 LIG1 0 genome.wustl.edu 37 19 48654587 48654587 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 48654587 48654587 G T SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.476 p.T159N 0.859 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 197 0 0 144 79 35.426 GYS1 0 genome.wustl.edu 37 19 49494706 49494706 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 49494706 49494706 C T SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known silent c.153 p.A51 0.789 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 146 0 0 174 29 14.2857 RUVBL2 0 genome.wustl.edu 37 19 49510289 49510289 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 49510289 49510289 C A SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.280 p.L94M 0.983 pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 64 0 0 34 35 50.7246 DKKL1 0 genome.wustl.edu 37 19 49878158 49878158 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 49878158 49878158 G A SNP DKKL1 ENST00000221498 human ensembl 74_37 +1 known missense c.602 p.R201Q 1.000 NULL NULL - no_errors DKKL1 HGNC ENSG00000104901 60 0 0 35 23 39.6552 LRRC4B 0 genome.wustl.edu 37 19 51021955 51021955 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 51021955 51021955 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1015 p.R339C 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 36 0 0 21 16 43.2432 SIGLEC9 0 genome.wustl.edu 37 19 51628989 51628989 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 51628989 51628989 C T SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known missense c.557 p.S186F 0.001 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 132 1 0.75188 121 13 9.70149 SIGLEC6 0 genome.wustl.edu 37 19 52033142 52033142 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 52033142 52033142 T C SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known missense c.848 p.H283R 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 69 0 0 71 31 30.3922 PTPRS 0 genome.wustl.edu 37 19 5212459 5212459 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 5212459 5212459 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4661 p.T1554M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 13 0 0 9 5 35.7143 ZNF616 0 genome.wustl.edu 37 19 52618234 52618234 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 52618234 52618234 C T SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.2183 p.R728Q 0.010 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 ZNF616 HGNC ENSG00000204611 285 0 0 139 115 45.2756 ZNF28 0 genome.wustl.edu 37 19 53304072 53304072 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 53304072 53304072 T C SNP ZNF28 ENST00000457749 human ensembl 74_37 -1 known silent c.1026 p.L342 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 ZNF28 HGNC ENSG00000198538 244 1 0.408163 155 90 36.7347 CACNG7 0 genome.wustl.edu 37 19 54416192 54416192 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 54416192 54416192 T C SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known missense c.107 p.M36T 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 53 0 0 42 20 32.2581 CACNG7 0 genome.wustl.edu 37 19 54445306 54445306 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 54445306 54445306 C T SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known missense c.587 p.S196F 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 17 0 0 9 3 25 CACNG8 0 genome.wustl.edu 37 19 54466537 54466537 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 54466537 54466537 G A SNP CACNG8 ENST00000270458 human ensembl 74_37 +1 known silent c.141 p.T47 0.989 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g8su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 21 0 0 3 13 81.25 LENG8 0 genome.wustl.edu 37 19 54967827 54967827 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 54967827 54967827 G A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known silent c.1458 p.A486 0.009 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 14 0 0 10 3 23.0769 GZMM 0 genome.wustl.edu 37 19 549785 549785 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 549785 549785 G A SNP GZMM ENST00000264553 human ensembl 74_37 +1 known silent c.768 p.S256 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMM HGNC ENSG00000197540 58 0 0 66 4 5.71429 EPS8L1 0 genome.wustl.edu 37 19 55597494 55597494 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 55597494 55597494 C A SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known silent c.1584 p.P528 0.969 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 92 0 0 103 13 11.2069 PPP6R1 0 genome.wustl.edu 37 19 55752707 55752707 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 55752707 55752707 G A SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known missense c.1061 p.T354M 0.907 pfam_SAPS,superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 40 0 0 57 5 8.06452 ZNF580 0 genome.wustl.edu 37 19 56153895 56153895 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 56153895 56153895 G A SNP ZNF580 ENST00000325333 human ensembl 74_37 +1 known silent c.21 p.R7 0.922 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF580 HGNC ENSG00000213015 28 0 0 30 7 18.9189 NLRP8 0 genome.wustl.edu 37 19 56459621 56459621 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 56459621 56459621 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.353 p.R118H 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP8 HGNC ENSG00000179709 84 0 0 54 24 30.7692 ZNF71 0 genome.wustl.edu 37 19 57133281 57133281 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 57133281 57133281 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.626 p.T209M 0.978 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 51 0 0 25 13 34.2105 ZNF749 0 genome.wustl.edu 37 19 57955692 57955692 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 57955692 57955692 T C SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known silent c.1176 p.S392 0.001 pfam_Znf_C2H2,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 ZNF749 HGNC ENSG00000186230 173 1 0.574713 137 22 13.8365 ZNF551 0 genome.wustl.edu 37 19 58199066 58199066 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 58199066 58199066 T C SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.1423 p.Y475H 0.484 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 ZNF551 HGNC ENSG00000204519 170 0 0 107 67 38.5057 ZNF552 0 genome.wustl.edu 37 19 58320135 58320135 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 58320135 58320135 C A SNP ZNF552 ENST00000391701 human ensembl 74_37 -1 known missense c.497 p.G166V 0.007 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 ZNF552 HGNC ENSG00000178935 206 0 0 123 77 38.5 ZNF418 0 genome.wustl.edu 37 19 58439171 58439171 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 58439171 58439171 C T SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known silent c.378 p.P126 0.029 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 ZNF418 HGNC ENSG00000196724 308 0 0 296 19 6.03175 ZSCAN1 0 genome.wustl.edu 37 19 58565294 58565294 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 58565294 58565294 C A SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.1102 p.Q368K 0.001 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 14 0 0 15 12 44.4444 ZNF8 0 genome.wustl.edu 37 19 58797158 58797158 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 58797158 58797158 A G SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known missense c.142 p.I48V 0.959 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF8 Uniprot_gn ENSG00000083842 189 0 0 104 71 40.5714 PNPLA6 0 genome.wustl.edu 37 19 7621376 7621376 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 7621376 7621376 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.3161 p.T1054M 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 222 0 0 151 79 34.3478 XAB2 0 genome.wustl.edu 37 19 7692684 7692684 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 7692684 7692684 C T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.254 p.R85H 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 107 0 0 76 32 29.6296 MUC16 0 genome.wustl.edu 37 19 9083944 9083944 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 9083944 9083944 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7871 p.T2624M 0.136 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 74 0 0 45 27 37.5 REV1 0 genome.wustl.edu 37 2 100022521 100022521 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 100022521 100022521 A G SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.2662 p.C888R 0.998 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 88 0 0 44 20 31.25 REV1 0 genome.wustl.edu 37 2 100038096 100038096 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 100038096 100038096 C T SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.1696 p.A566T 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 127 0 0 68 45 39.823 GRHL1 0 genome.wustl.edu 37 2 10130834 10130834 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 10130834 10130834 G A SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known missense c.1280 p.R427Q 1.000 pfam_CP2 pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 26 0 0 32 5 13.5135 SLC9A4 0 genome.wustl.edu 37 2 103095325 103095325 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 103095325 103095325 G A SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.284 p.G95D 0.001 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 63 0 0 61 23 27.381 SLC9A2 0 genome.wustl.edu 37 2 103322334 103322334 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 103322334 103322334 C A SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known silent c.2007 p.S669 0.392 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 95 0 0 57 31 35.2273 SLC5A7 0 genome.wustl.edu 37 2 108625008 108625008 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 108625008 108625008 G T SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.983 p.C328F 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 116 0 0 81 57 41.3043 C2orf50 0 genome.wustl.edu 37 2 11273484 11273484 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 11273484 11273484 G A SNP C2orf50 ENST00000381585 human ensembl 74_37 +1 known silent c.24 p.G8 0.010 NULL NULL - no_errors C2orf50 HGNC ENSG00000150873 40 0 0 37 16 30.1887 ZC3H6 0 genome.wustl.edu 37 2 113081979 113081979 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 113081979 113081979 C T SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known nonsense c.1591 p.Q531* 0.948 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 50 0 0 31 23 42.5926 IL1RN 0 genome.wustl.edu 37 2 113877668 113877668 + Silent SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 113877668 113877668 A T SNP IL1RN ENST00000259206 human ensembl 74_37 +1 known silent c.36 p.G12 0.000 NULL pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 - no_errors IL1RN HGNC ENSG00000136689 83 0 0 72 13 15.2941 SNTG2 0 genome.wustl.edu 37 2 1161257 1161257 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 1161257 1161257 C T SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.435 p.G145 0.992 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 53 0 0 73 11 13.0952 LPIN1 0 genome.wustl.edu 37 2 11944622 11944622 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 11944622 11944622 G A SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.2234 p.R745H 1.000 superfamily_WD40_repeat_dom pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 147 1 0.675676 87 55 38.7324 ERCC3 0 genome.wustl.edu 37 2 128015230 128015230 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 128015230 128015230 G A SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known missense c.2291 p.S764L 0.033 tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 110 0 0 92 57 38.255 ARHGEF4 0 genome.wustl.edu 37 2 131803637 131803637 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 131803637 131803637 C T SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.1948 p.R650C 0.974 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 115 0 0 99 13 11.6071 LRP1B 0 genome.wustl.edu 37 2 140990876 140990876 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 140990876 140990876 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13679 p.P4560L 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 118 0 0 68 59 46.4567 KCNJ3 0 genome.wustl.edu 37 2 155566208 155566208 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 155566208 155566208 T C SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.796 p.S266P 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 148 0 0 106 44 29.3333 BAZ2B 0 genome.wustl.edu 37 2 160181408 160181408 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 160181408 160181408 T C SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known silent c.6267 p.V2089 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 139 0 0 106 47 30.719 RBMS1 0 genome.wustl.edu 37 2 161223762 161223762 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 161223762 161223762 G A SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known silent c.216 p.H72 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 146 0 0 117 19 13.9706 GRB14 0 genome.wustl.edu 37 2 165353779 165353779 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 165353779 165353779 T C SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known silent c.1236 p.L412 0.999 pfam_BPS-dom pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 173 0 0 106 73 40.7821 PXDN 0 genome.wustl.edu 37 2 1658274 1658274 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 1658274 1658274 T C SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1844 p.D615G 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 93 0 0 75 5 6.25 XIRP2 0 genome.wustl.edu 37 2 168106521 168106521 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 168106521 168106521 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.8619 p.Q2873 0.253 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 178 0 0 132 57 30.1587 FASTKD1 0 genome.wustl.edu 37 2 170417153 170417153 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 170417153 170417153 G A SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known nonsense c.715 p.R239* 0.998 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 129 0 0 69 26 27.3684 SMC6 0 genome.wustl.edu 37 2 17884436 17884436 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 17884436 17884436 A G SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known silent c.2208 p.Y736 0.663 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 56 0 0 39 25 39.0625 TTN 0 genome.wustl.edu 37 2 179411522 179411522 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179411522 179411522 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.86929 p.R28977C 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 97 0 0 97 8 7.61905 TTN 0 genome.wustl.edu 37 2 179441417 179441417 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179441417 179441417 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.61850 p.R20617Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 444 0 0 380 31 7.54258 TTN 0 genome.wustl.edu 37 2 179590542 179590542 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179590542 179590542 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16775 p.Q5592R 0.785 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 149 0 0 111 63 36.2069 TTN 0 genome.wustl.edu 37 2 179590718 179590718 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179590718 179590718 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.16599 p.E5533 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 105 0 0 54 52 49.0566 TTN 0 genome.wustl.edu 37 2 179612257 179612257 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179612257 179612257 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.14870 p.E4957A 0.992 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 236 0 0 148 94 38.843 TTN 0 genome.wustl.edu 37 2 179612262 179612262 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179612262 179612262 T A SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.14865 p.K4955N 0.917 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 236 0 0 149 94 38.6831 TTN 0 genome.wustl.edu 37 2 179615191 179615191 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179615191 179615191 T A SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.11936 p.N3979I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 200 0 0 119 72 37.6963 TTN 0 genome.wustl.edu 37 2 179621109 179621109 + Silent SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179621109 179621109 T A SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.10581 p.A3527 0.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 162 0 0 74 60 44.7761 TTN 0 genome.wustl.edu 37 2 179669352 179669352 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179669352 179669352 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.18 p.P6 1.000 pfam_Ig_I-set,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 100 0 0 62 39 38.6139 CWC22 0 genome.wustl.edu 37 2 180823790 180823790 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 180823790 180823790 C T SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.1417 p.A473T 1.000 pfam_Initiation_fac_eIF4g_MI,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 13 0 0 16 3 15.7895 FSIP2 0 genome.wustl.edu 37 2 186672757 186672757 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 186672757 186672757 C A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.18991 p.P6331T 0.001 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 127 0 0 69 55 44.3548 FAM171B 0 genome.wustl.edu 37 2 187605148 187605148 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 187605148 187605148 C T SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known silent c.432 p.Y144 0.994 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 101 0 0 101 11 9.82143 SDPR 0 genome.wustl.edu 37 2 192711639 192711639 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 192711639 192711639 C T SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.13 p.A5T 1.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 93 0 0 86 22 20.3704 GTF3C3 0 genome.wustl.edu 37 2 197629314 197629314 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 197629314 197629314 C T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known silent c.2634 p.T878 0.011 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 153 0 0 86 64 42.6667 PLCL1 0 genome.wustl.edu 37 2 198966086 198966086 + Splice_Site SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 198966086 198966086 T A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known splice_site c.2995+2 e4+2 1.000 - - - no_errors PLCL1 HGNC ENSG00000115896 136 0 0 66 50 43.1034 MPP4 0 genome.wustl.edu 37 2 202552029 202552029 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 202552029 202552029 C A SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.345 p.Q115H 0.297 pfam_L27_C,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 11 0 0 6 6 50 ABI2 0 genome.wustl.edu 37 2 204255835 204255835 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 204255835 204255835 A G SNP ABI2 ENST00000295851 human ensembl 74_37 +1 known missense c.547 p.S183G 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 45 0 0 28 11 28.2051 NRP2 0 genome.wustl.edu 37 2 206607957 206607957 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 206607957 206607957 T C SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.1322 p.L441P 1.000 pirsf_Neuropilin,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 328 0 0 295 58 16.4306 FZD5 0 genome.wustl.edu 37 2 208633251 208633251 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 208633251 208633251 C T SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known nonsense c.213 p.W71* 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 23 0 0 25 6 19.3548 FZD5 0 genome.wustl.edu 37 2 208633259 208633259 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 208633259 208633259 G A SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known nonsense c.205 p.Q69* 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 25 0 0 25 5 16.6667 PLEKHM3 0 genome.wustl.edu 37 2 208841408 208841408 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 208841408 208841408 G A SNP PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known nonsense c.1513 p.R505* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 88 0 0 85 5 5.55556 CRYGA 0 genome.wustl.edu 37 2 209025753 209025753 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 209025753 209025753 G A SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known silent c.300 p.G100 0.833 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 112 0 0 60 54 47.3684 MAP2 0 genome.wustl.edu 37 2 210559300 210559300 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 210559300 210559300 G T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2406 p.M802I 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 222 1 0.44843 136 82 37.6147 APOB 0 genome.wustl.edu 37 2 21230729 21230729 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 21230729 21230729 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.9011 p.A3004D 0.035 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 162 0 0 98 55 35.9477 FN1 0 genome.wustl.edu 37 2 216251612 216251612 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 216251612 216251612 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.4412 p.A1471V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 60 0 0 29 16 35.5556 TNS1 0 genome.wustl.edu 37 2 218700768 218700768 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 218700768 218700768 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.2799 p.I933 0.997 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 97 0 0 66 36 35.2941 CCDC108 0 genome.wustl.edu 37 2 219895549 219895549 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 219895549 219895549 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.1023 p.C341 0.774 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 41 0 0 31 14 31.1111 CHPF 0 genome.wustl.edu 37 2 220404779 220404779 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 220404779 220404779 G A SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.1654 p.R552C 0.968 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 20 0 0 11 5 31.25 TMEM198 0 genome.wustl.edu 37 2 220409549 220409549 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 220409549 220409549 T C SNP TMEM198 ENST00000344458 human ensembl 74_37 +1 known missense c.100 p.Y34H 1.000 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 123 0 0 96 52 35.1351 OBSL1 0 genome.wustl.edu 37 2 220432804 220432804 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 220432804 220432804 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1255 p.R419C 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 102 0 0 61 50 45.045 SERPINE2 0 genome.wustl.edu 37 2 224866442 224866442 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 224866442 224866442 G A SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known missense c.176 p.A59V 0.978 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 115 0 0 103 39 27.4648 IRS1 0 genome.wustl.edu 37 2 227662389 227662389 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 227662389 227662389 C T SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.1066 p.A356T 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 76 0 0 65 27 29.3478 SPHKAP 0 genome.wustl.edu 37 2 228882351 228882351 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 228882351 228882351 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.3219 p.D1073 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 99 0 0 64 48 42.8571 C2orf57 0 genome.wustl.edu 37 2 232458553 232458553 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 232458553 232458553 C T SNP C2orf57 ENST00000313965 human ensembl 74_37 +1 known silent c.891 p.S297 0.088 NULL NULL - no_errors C2orf57 HGNC ENSG00000177673 125 0 0 85 41 32.5397 ALPP 0 genome.wustl.edu 37 2 233243793 233243793 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 233243793 233243793 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known silent c.189 p.G63 0.012 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 108 0 0 84 33 28.2051 ECEL1 0 genome.wustl.edu 37 2 233348859 233348859 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 233348859 233348859 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1259 p.A420V 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 86 0 0 42 43 50.5882 DNAJB3 0 genome.wustl.edu 37 2 234652528 234652528 + RNA SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 234652528 234652528 C A SNP DNAJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.446 - - - no_errors DNAJB3 HGNC ENSG00000227802 117 0 0 58 45 43.6893 ACKR3 0 genome.wustl.edu 37 2 237489456 237489456 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 237489456 237489456 G A SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known silent c.348 p.T116 0.355 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 168 0 0 133 58 30.3665 PER2 0 genome.wustl.edu 37 2 239186494 239186494 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 239186494 239186494 C T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known silent c.84 p.L28 0.547 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 78 0 0 52 25 32.4675 ASB1 0 genome.wustl.edu 37 2 239344354 239344354 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 239344354 239344354 G A SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known missense c.194 p.R65H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 35 0 0 11 12 52.1739 GPC1 0 genome.wustl.edu 37 2 241401788 241401788 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 241401788 241401788 G A SNP GPC1 ENST00000264039 human ensembl 74_37 +1 known missense c.506 p.R169H 0.995 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC ENSG00000063660 15 0 0 8 6 42.8571 ING5 0 genome.wustl.edu 37 2 242662669 242662669 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 242662669 242662669 G A SNP ING5 ENST00000313552 human ensembl 74_37 +1 known silent c.663 p.T221 0.508 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING5 HGNC ENSG00000168395 269 0 0 164 110 40.146 IFT172 0 genome.wustl.edu 37 2 27688651 27688651 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 27688651 27688651 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.1791 p.I597 0.920 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 541 2 0.368324 351 259 42.459 SPDYA 0 genome.wustl.edu 37 2 29063081 29063081 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 29063081 29063081 G A SNP SPDYA ENST00000334056 human ensembl 74_37 +1 known missense c.596 p.R199H 0.999 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC ENSG00000163806 61 0 0 51 32 38.5542 LTBP1 0 genome.wustl.edu 37 2 33487837 33487837 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 33487837 33487837 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.2467 p.P823S 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 81 0 0 81 15 15.625 CRIM1 0 genome.wustl.edu 37 2 36749246 36749246 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 36749246 36749246 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.2218 p.R740W 0.999 NULL pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 178 1 0.558659 189 13 6.43564 ATL2 0 genome.wustl.edu 37 2 38545705 38545705 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 38545705 38545705 G T SNP ATL2 ENST00000378954 human ensembl 74_37 -1 known missense c.575 p.A192D 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 94 0 0 78 12 13.3333 THADA 0 genome.wustl.edu 37 2 43787479 43787479 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 43787479 43787479 C T SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.2357 p.G786D 0.060 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 43 0 0 24 8 25 LHCGR 0 genome.wustl.edu 37 2 48941140 48941140 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 48941140 48941140 G A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.590 p.T197M 1.000 prints_LSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 97 0 0 46 29 38.6667 FSHR 0 genome.wustl.edu 37 2 49217744 49217744 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 49217744 49217744 G T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.407 p.P136Q 1.000 prints_FSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 174 0 0 152 25 14.1243 NRXN1 0 genome.wustl.edu 37 2 50573835 50573835 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 50573835 50573835 C T SNP NRXN1 ENST00000342183 human ensembl 74_37 -1 known missense c.253 p.G85R 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 55 0 0 44 24 35.2941 GPR75 0 genome.wustl.edu 37 2 54080672 54080672 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 54080672 54080672 G A SNP GPR75 ENST00000394705 human ensembl 74_37 -1 known nonsense c.1222 p.R408* 1.000 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR75 HGNC ENSG00000119737 255 1 0.390625 262 14 5.07246 CCDC104 0 genome.wustl.edu 37 2 55771388 55771388 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 55771388 55771388 G A SNP CCDC104 ENST00000339012 human ensembl 74_37 +1 known silent c.885 p.R295 0.710 NULL pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC ENSG00000163001 99 0 0 66 42 38.8889 PNPT1 0 genome.wustl.edu 37 2 55870544 55870544 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 55870544 55870544 C T SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known silent c.1923 p.Q641 1.000 pfam_KH_dom_type_1,smart_KH_dom,pirsf_PNPase,pfscan_KH_dom_type_1,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 135 0 0 115 12 9.44882 SOX11 0 genome.wustl.edu 37 2 5833158 5833158 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 5833158 5833158 C T SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.305 p.A102V 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 21 0 0 28 9 24.3243 KIAA1841 0 genome.wustl.edu 37 2 61304055 61304055 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 61304055 61304055 G A SNP KIAA1841 ENST00000453186 human ensembl 74_37 +1 known missense c.338 p.G113D 1.000 NULL superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 115 0 0 63 41 39.4231 USP34 0 genome.wustl.edu 37 2 61475795 61475795 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 61475795 61475795 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.6245 p.R2082H 0.999 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 135 1 0.735294 124 8 6.06061 ANTXR1 0 genome.wustl.edu 37 2 69472360 69472360 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 69472360 69472360 C T SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.1438 p.R480C 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 38 0 0 38 17 30.9091 ANXA4 0 genome.wustl.edu 37 2 70031679 70031679 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 70031679 70031679 G A SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known missense c.112 p.A38T 0.980 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 42 0 0 23 13 36.1111 NAT8 0 genome.wustl.edu 37 2 73868259 73868259 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 73868259 73868259 C T SNP NAT8 ENST00000272425 human ensembl 74_37 -1 known missense c.497 p.R166Q 0.020 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC ENSG00000144035 86 0 0 83 10 10.7527 DCTN1 0 genome.wustl.edu 37 2 74590160 74590160 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 74590160 74590160 T A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.3490 p.T1164S 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 52 0 0 33 11 25 HTRA2 0 genome.wustl.edu 37 2 74759794 74759794 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 74759794 74759794 G A SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known silent c.1164 p.Q388 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 134 0 0 107 26 19.5489 HK2 0 genome.wustl.edu 37 2 75113685 75113685 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 75113685 75113685 C T SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.2104 p.R702W 0.994 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 130 0 0 113 25 18.1159 HK2 0 genome.wustl.edu 37 2 75113788 75113788 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 75113788 75113788 C T SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.2207 p.P736L 0.982 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 74 0 0 50 27 35.0649 CTNNA2 0 genome.wustl.edu 37 2 80831288 80831288 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 80831288 80831288 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2381 p.R794H 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 73 0 0 50 41 45.0549 TMEM150A 0 genome.wustl.edu 37 2 85827471 85827471 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 85827471 85827471 T C SNP TMEM150A ENST00000334462 human ensembl 74_37 -1 known missense c.265 p.M89V 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150A HGNC ENSG00000168890 37 0 0 57 4 6.55738 USP39 0 genome.wustl.edu 37 2 85852763 85852763 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 85852763 85852763 T C SNP USP39 ENST00000409470 human ensembl 74_37 +1 known silent c.672 p.I224 0.868 pfam_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 137 0 0 108 22 16.9231 IMMT 0 genome.wustl.edu 37 2 86373208 86373208 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 86373208 86373208 A C SNP IMMT ENST00000410111 human ensembl 74_37 -1 known missense c.1646 p.I549S 1.000 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 31 0 0 25 12 32.4324 ZNF514 0 genome.wustl.edu 37 2 95815928 95815928 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 95815928 95815928 T C SNP ZNF514 ENST00000295208 human ensembl 74_37 -1 known missense c.302 p.E101G 0.998 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 ZNF514 HGNC ENSG00000144026 384 0 0 358 83 18.8209 GPAT2 0 genome.wustl.edu 37 2 96697827 96697827 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 96697827 96697827 C T SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known missense c.131 p.R44H 1.000 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 81 0 0 98 9 8.41121 ITPRIPL1 0 genome.wustl.edu 37 2 96992973 96992973 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 96992973 96992973 C T SNP ITPRIPL1 ENST00000361124 human ensembl 74_37 +1 known missense c.628 p.R210W 0.997 NULL NULL - no_errors ITPRIPL1 HGNC ENSG00000198885 132 0 0 88 54 38.0282 NCAPH 0 genome.wustl.edu 37 2 97007608 97007608 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 97007608 97007608 G A SNP NCAPH ENST00000240423 human ensembl 74_37 +1 known missense c.248 p.R83H 0.000 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 130 0 0 100 65 39.3939 ANKRD36B 0 genome.wustl.edu 37 2 98201579 98201579 + RNA SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 98201579 98201579 G T SNP ANKRD36B ENST00000419390 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors ANKRD36B HGNC ENSG00000196912 71 0 0 64 4 5.88235 ISM1 0 genome.wustl.edu 37 20 13279916 13279916 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 13279916 13279916 C T SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.1205 p.T402M 0.995 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 22 0 0 13 16 55.1724 NSFL1C 0 genome.wustl.edu 37 20 1424269 1424269 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 1424269 1424269 G A SNP NSFL1C ENST00000461211 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NSFL1C HGNC ENSG00000088833 16 0 0 18 4 18.1818 CSRP2BP 0 genome.wustl.edu 37 20 18143418 18143418 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 18143418 18143418 G A SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known silent c.1500 p.A500 0.007 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 215 0 0 237 81 25.4717 TGM3 0 genome.wustl.edu 37 20 2308960 2308960 + Missense_Mutation SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 2308960 2308960 G C SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.1282 p.V428L 0.987 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 62 0 0 73 24 24.7423 GZF1 0 genome.wustl.edu 37 20 23346237 23346237 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 23346237 23346237 G A SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1217 p.R406Q 0.874 NULL 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 GZF1 HGNC ENSG00000125812 56 0 0 71 34 32.381 ABHD12 0 genome.wustl.edu 37 20 25300924 25300924 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 25300924 25300924 G A SNP ABHD12 ENST00000376542 human ensembl 74_37 -1 known silent c.453 p.N151 0.246 NULL pfam_AB_hydrolase_1,pfam_AB_hydrolase_3 - no_errors ABHD12 HGNC ENSG00000100997 124 0 0 110 48 30.3797 NINL 0 genome.wustl.edu 37 20 25456719 25456719 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 25456719 25456719 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.3208 p.R1070W 0.001 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 230 0 0 241 69 22.2581 CPXM1 0 genome.wustl.edu 37 20 2777036 2777036 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 2777036 2777036 G A SNP CPXM1 ENST00000380605 human ensembl 74_37 -1 known missense c.1099 p.R367W 0.950 pfam_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 113 0 0 137 58 29.7436 FOXS1 0 genome.wustl.edu 37 20 30432967 30432967 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 30432967 30432967 C T SNP FOXS1 ENST00000375978 human ensembl 74_37 -1 known missense c.379 p.A127T 0.027 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 11 0 0 22 7 24.1379 BPIFB4 0 genome.wustl.edu 37 20 31671314 31671314 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 31671314 31671314 G A SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.311 p.R104Q 1.000 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 126 0 0 123 62 33.5135 SLC4A11 0 genome.wustl.edu 37 20 3212106 3212106 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 3212106 3212106 C T SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.947 p.R316H 1.000 pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 119 1 0.833333 157 22 12.2905 C20orf194 0 genome.wustl.edu 37 20 3329232 3329232 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 3329232 3329232 G A SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.729 p.F243 0.985 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 95 0 0 120 43 26.3804 NCOA6 0 genome.wustl.edu 37 20 33330511 33330511 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 33330511 33330511 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.3549 p.Q1183 0.990 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 149 0 0 146 62 29.8077 MROH8 0 genome.wustl.edu 37 20 35783525 35783525 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 35783525 35783525 G A SNP MROH8 ENST00000400441 human ensembl 74_37 -1 known missense c.1015 p.R339W 0.944 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 145 1 0.684932 174 67 27.8008 CDC25B 0 genome.wustl.edu 37 20 3782594 3782594 + Nonsense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 3782594 3782594 C A SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known nonsense c.945 p.C315* 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 20 0 0 30 7 18.9189 CHD6 0 genome.wustl.edu 37 20 40122502 40122502 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 40122502 40122502 C A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.1175 p.G392V 1.000 pfam_Chromo_domain,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD6 HGNC ENSG00000124177 99 0 0 120 32 21.0526 CHD6 0 genome.wustl.edu 37 20 40143482 40143482 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 40143482 40143482 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.664 p.R222W 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD6 HGNC ENSG00000124177 122 1 0.813008 157 54 25.5924 PTPRT 0 genome.wustl.edu 37 20 41408874 41408874 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 41408874 41408874 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.552 p.V184 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 117 0 0 133 37 21.7647 STK4 0 genome.wustl.edu 37 20 43703810 43703810 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 43703810 43703810 A C SNP STK4 ENST00000372806 human ensembl 74_37 +1 known missense c.1457 p.N486T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 29 0 0 36 6 14.2857 ZNFX1 0 genome.wustl.edu 37 20 47865238 47865238 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 47865238 47865238 G A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known silent c.4323 p.C1441 0.268 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 65 0 0 52 18 25.7143 ADNP 0 genome.wustl.edu 37 20 49508350 49508350 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 49508350 49508350 G A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known silent c.2901 p.D967 0.780 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 313 0 0 304 119 28.1324 KCNG1 0 genome.wustl.edu 37 20 49620572 49620572 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 49620572 49620572 G A SNP KCNG1 ENST00000506387 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors KCNG1 HGNC ENSG00000026559 45 0 0 45 17 27.4194 NFATC2 0 genome.wustl.edu 37 20 50048989 50048989 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 50048989 50048989 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known silent c.2337 p.D779 0.225 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 44 0 0 50 20 28.5714 ATP9A 0 genome.wustl.edu 37 20 50245609 50245609 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 50245609 50245609 A G SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known silent c.1671 p.D557 0.997 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 176 0 0 196 74 27.4074 ZFP64 0 genome.wustl.edu 37 20 50768713 50768713 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 50768713 50768713 A T SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.2018 p.L673H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 109 0 0 144 13 8.28025 CSTF1 0 genome.wustl.edu 37 20 54972482 54972482 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 54972482 54972482 C T SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.389 p.A130V 1.000 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 CSTF1 HGNC ENSG00000101138 306 0 0 281 100 26.2467 GNAS 0 genome.wustl.edu 37 20 57485424 57485424 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 57485424 57485424 C T SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.1009 p.R337W 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 129 0 0 161 12 6.93642 PPP1R3D 0 genome.wustl.edu 37 20 58514315 58514315 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 58514315 58514315 G A SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known silent c.672 p.R224 0.116 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 51 0 0 45 23 33.8235 CHGB 0 genome.wustl.edu 37 20 5903916 5903916 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 5903916 5903916 C T SNP CHGB ENST00000378961 human ensembl 74_37 +1 known nonsense c.1126 p.Q376* 0.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 143 0 0 161 54 25.1163 CDH4 0 genome.wustl.edu 37 20 60499487 60499487 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 60499487 60499487 A G SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1724 p.Y575C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 63 0 0 79 7 8.13953 FERMT1 0 genome.wustl.edu 37 20 6057911 6057911 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 6057911 6057911 C T SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.1943 p.G648D 1.000 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 107 0 0 151 16 9.58084 HRH3 0 genome.wustl.edu 37 20 60791877 60791877 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 60791877 60791877 C T SNP HRH3 ENST00000317393 human ensembl 74_37 -1 known missense c.523 p.E175K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH3 HGNC ENSG00000101180 29 0 0 53 20 27.3973 YTHDF1 0 genome.wustl.edu 37 20 61833652 61833652 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 61833652 61833652 T A SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.1640 p.E547V 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 129 1 0.769231 144 57 28.3582 YTHDF1 0 genome.wustl.edu 37 20 61845261 61845261 + Silent SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 61845261 61845261 A C SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known silent c.87 p.V29 0.929 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 119 0 0 141 52 26.943 CHRNA4 0 genome.wustl.edu 37 20 61981128 61981128 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 61981128 61981128 C T SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known silent c.1635 p.T545 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 41 0 0 24 19 44.186 GMEB2 0 genome.wustl.edu 37 20 62223462 62223462 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 62223462 62223462 C A SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known missense c.865 p.G289C 1.000 superfamily_Sig_transdc_His_kin_Hpt_dom pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 58 0 0 76 12 13.6364 ZBTB46 0 genome.wustl.edu 37 20 62407140 62407140 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 62407140 62407140 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.1113 p.R371 0.931 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 116 0 0 108 50 31.6456 ZBTB46 0 genome.wustl.edu 37 20 62421310 62421310 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 62421310 62421310 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.801 p.T267 0.017 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 77 0 0 92 37 28.6822 DNAJC5 0 genome.wustl.edu 37 20 62559804 62559804 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 62559804 62559804 C T SNP DNAJC5 ENST00000360864 human ensembl 74_37 +1 known missense c.106 p.R36W 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 96 0 0 89 21 19.0909 MYT1 0 genome.wustl.edu 37 20 62871228 62871228 + Missense_Mutation SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 62871228 62871228 G C SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.3290 p.S1097T 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 172 0 0 176 51 22.467 PLCB1 0 genome.wustl.edu 37 20 8755367 8755367 + Splice_Site SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 8755367 8755367 G A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known splice_site c.3111+1 e27+1 1.000 - - - no_errors PLCB1 HGNC ENSG00000182621 97 0 0 117 10 7.87402 RBM11 0 genome.wustl.edu 37 21 15591970 15591970 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 15591970 15591970 A C SNP RBM11 ENST00000400577 human ensembl 74_37 +1 known missense c.183 p.E61D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 48 0 0 52 6 10.3448 NCAM2 0 genome.wustl.edu 37 21 22664432 22664432 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 22664432 22664432 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.490 p.A164T 0.981 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 164 0 0 63 54 46.1538 ADAMTS5 0 genome.wustl.edu 37 21 28296534 28296534 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 28296534 28296534 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.2631 p.P877 0.932 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 125 0 0 102 39 27.6596 RWDD2B 0 genome.wustl.edu 37 21 30380870 30380870 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 30380870 30380870 G A SNP RWDD2B ENST00000493196 human ensembl 74_37 -1 known missense c.140 p.A47V 0.998 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2B HGNC ENSG00000156253 151 0 0 132 9 6.38298 KRTAP19-1 0 genome.wustl.edu 37 21 31852411 31852411 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 31852411 31852411 A G SNP KRTAP19-1 ENST00000390689 human ensembl 74_37 -1 known missense c.226 p.C76R 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-1 HGNC ENSG00000184351 210 1 0.473934 240 13 5.13834 SCAF4 0 genome.wustl.edu 37 21 33044468 33044468 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 33044468 33044468 G A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known silent c.2688 p.G896 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 63 0 0 63 6 8.69565 TTC3 0 genome.wustl.edu 37 21 38555103 38555103 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 38555103 38555103 C T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.4645 p.L1549F 0.645 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 51 0 0 26 20 43.4783 TRAPPC10 0 genome.wustl.edu 37 21 45479047 45479047 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 45479047 45479047 G A SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.742 p.E248K 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 57 0 0 44 29 39.726 PFKL 0 genome.wustl.edu 37 21 45745850 45745850 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 45745850 45745850 G A SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.2137 p.A713T 0.996 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 33 0 0 15 8 34.7826 PCNT 0 genome.wustl.edu 37 21 47808787 47808787 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 47808787 47808787 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.3595 p.A1199T 0.055 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 25 0 0 7 12 63.1579 DIP2A 0 genome.wustl.edu 37 21 47953472 47953472 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 47953472 47953472 C A SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.1344 p.G448 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 47 0 0 26 22 45.8333 IL17RA 0 genome.wustl.edu 37 22 17590410 17590410 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 17590410 17590410 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.2301 p.G767 0.000 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 15 0 0 9 6 40 MICAL3 0 genome.wustl.edu 37 22 18324702 18324702 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 18324702 18324702 T C SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.2687 p.Y896C 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 12 0 0 10 3 23.0769 TUBA8 0 genome.wustl.edu 37 22 18613670 18613670 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 18613670 18613670 C T SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.1117 p.R373W 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 73 0 0 55 41 42.7083 ENSG00000161103 0 genome.wustl.edu 37 22 18845939 18845939 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 18845939 18845939 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 22 0 0 22 4 15.3846 GNB1L 0 genome.wustl.edu 37 22 19808240 19808240 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 19808240 19808240 C A SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known missense c.135 p.Q45H 0.217 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_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 GNB1L HGNC ENSG00000185838 58 0 0 36 28 43.75 TXNRD2 0 genome.wustl.edu 37 22 19882652 19882652 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 19882652 19882652 C T SNP TXNRD2 ENST00000491939 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TXNRD2 HGNC ENSG00000184470 42 0 0 26 17 39.5349 PI4KA 0 genome.wustl.edu 37 22 21097019 21097019 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 21097019 21097019 C A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.3490 p.G1164C 0.999 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 223 0 0 115 58 33.526 GNAZ 0 genome.wustl.edu 37 22 23438056 23438056 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 23438056 23438056 C T SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known silent c.174 p.S58 0.029 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 214 0 0 132 76 36.5385 BCR 0 genome.wustl.edu 37 22 23631789 23631789 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 23631789 23631789 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known silent c.2688 p.P896 0.028 pfscan_C2_dom pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 46 0 0 34 20 37.037 SPECC1L 0 genome.wustl.edu 37 22 24718011 24718011 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 24718011 24718011 C T SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.1063 p.P355S 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 93 0 0 66 37 35.9223 ASPHD2 0 genome.wustl.edu 37 22 26830109 26830109 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 26830109 26830109 G A SNP ASPHD2 ENST00000215906 human ensembl 74_37 +1 known silent c.528 p.T176 0.992 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 79 0 0 29 20 40.8163 MN1 0 genome.wustl.edu 37 22 28193239 28193239 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 28193239 28193239 G A SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.3293 p.A1098V 0.993 NULL NULL - no_errors MN1 HGNC ENSG00000169184 11 0 0 4 3 42.8571 GAL3ST1 0 genome.wustl.edu 37 22 30951194 30951194 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 30951194 30951194 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.1018 p.R340C 0.999 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 17 0 0 19 11 36.6667 PES1 0 genome.wustl.edu 37 22 30976107 30976107 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 30976107 30976107 C T SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.1102 p.V368I 0.001 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 177 0 0 113 70 38.2514 SLC35E4 0 genome.wustl.edu 37 22 31042989 31042989 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 31042989 31042989 C T SNP SLC35E4 ENST00000343605 human ensembl 74_37 +1 known missense c.1024 p.R342W 0.946 NULL pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA - no_errors SLC35E4 HGNC ENSG00000100036 57 0 0 32 24 42.8571 LIMK2 0 genome.wustl.edu 37 22 31672811 31672811 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 31672811 31672811 C T SNP LIMK2 ENST00000340552 human ensembl 74_37 +1 putative silent c.1746 p.C582 0.981 superfamily_PP1_inhibitor,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 26 0 0 17 16 48.4848 DRG1 0 genome.wustl.edu 37 22 31822637 31822637 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 31822637 31822637 T C SNP DRG1 ENST00000331457 human ensembl 74_37 +1 known silent c.750 p.I250 0.991 superfamily_P-loop_NTPase pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG1 HGNC ENSG00000185721 250 0 0 148 89 37.5527 SFI1 0 genome.wustl.edu 37 22 31979888 31979888 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 31979888 31979888 C T SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.1276 p.R426W 0.383 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 317 1 0.314465 307 56 15.427 DEPDC5 0 genome.wustl.edu 37 22 32302250 32302250 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 32302250 32302250 C T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.4513 p.R1505W 0.996 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 64 0 0 32 14 30.4348 RTCB 0 genome.wustl.edu 37 22 32797740 32797740 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 32797740 32797740 T C SNP RTCB ENST00000216038 human ensembl 74_37 -1 known missense c.491 p.N164S 1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 170 0 0 106 94 47 CSF2RB 0 genome.wustl.edu 37 22 37319309 37319309 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 37319309 37319309 C T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.100 p.R34C 0.854 pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 54 0 0 44 24 35.2941 CSF2RB 0 genome.wustl.edu 37 22 37325759 37325759 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 37325759 37325759 G A SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.628 p.A210T 1.000 pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 59 0 0 39 25 39.0625 MFNG 0 genome.wustl.edu 37 22 37870636 37870636 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 37870636 37870636 G A SNP MFNG ENST00000356998 human ensembl 74_37 -1 known silent c.727 p.L243 1.000 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors MFNG HGNC ENSG00000100060 41 0 0 40 8 16.6667 NPTXR 0 genome.wustl.edu 37 22 39219123 39219123 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 39219123 39219123 T C SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.1243 p.K415E 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 112 0 0 77 44 36.3636 PDGFB 0 genome.wustl.edu 37 22 39621845 39621845 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 39621845 39621845 C T SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known silent c.609 p.T203 0.006 NULL pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 42 0 0 37 21 36.2069 PDGFB 0 genome.wustl.edu 37 22 39631786 39631786 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 39631786 39631786 C T SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known missense c.157 p.G53R 1.000 pfam_PDGF_N pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 35 0 0 27 16 37.2093 FAM83F 0 genome.wustl.edu 37 22 40417473 40417473 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 40417473 40417473 G A SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known missense c.959 p.R320Q 0.811 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 165 0 0 154 22 12.5 A4GALT 0 genome.wustl.edu 37 22 43088985 43088985 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 43088985 43088985 G A SNP A4GALT ENST00000249005 human ensembl 74_37 -1 known missense c.973 p.R325W 0.001 pfam_A1-4-GlycosylTfrase_dom pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 64 0 0 30 25 45.4545 ARFGAP3 0 genome.wustl.edu 37 22 43219661 43219661 + Splice_Site SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 43219661 43219661 C T SNP ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known splice_site c.672+1 e8+1 1.000 - - - no_errors ARFGAP3 HGNC ENSG00000242247 47 0 0 21 9 30 CELSR1 0 genome.wustl.edu 37 22 46929835 46929835 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 46929835 46929835 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.3233 p.S1078L 0.960 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 125 0 0 83 52 38.5185 SBF1 0 genome.wustl.edu 37 22 50886875 50886875 + Splice_Site SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 50886875 50886875 T G SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known splice_site c.5152-2 e38-2 1.000 - - - no_errors SBF1 HGNC ENSG00000100241 50 0 0 35 20 36.3636 SHANK3 0 genome.wustl.edu 37 22 51115076 51115076 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 51115076 51115076 C A SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.294 p.A98 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 46 0 0 24 8 25 RPL23AP82 0 genome.wustl.edu 37 22 51237135 51237135 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 51237135 51237135 C T SNP RPL23AP82 ENST00000462238 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC002055.4 Clone_based_vega_gene ENSG00000184319 85 0 0 65 22 25.2874 IMPG2 0 genome.wustl.edu 37 3 100972552 100972552 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 100972552 100972552 C T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known silent c.1227 p.P409 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 54 0 0 39 27 40.9091 SENP7 0 genome.wustl.edu 37 3 101044872 101044872 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 101044872 101044872 C T SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.3068 p.R1023H 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 128 0 0 87 71 44.9367 SENP7 0 genome.wustl.edu 37 3 101083705 101083705 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 101083705 101083705 T C SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known silent c.1449 p.L483 0.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 159 1 0.625 85 65 43.3333 FANCD2 0 genome.wustl.edu 37 3 10114936 10114936 + Splice_Site SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 10114936 10114936 G T SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known splice_site c.2606-1 e27-1 1.000 - - - no_errors FANCD2 HGNC ENSG00000144554 105 0 0 113 15 11.7188 BOC 0 genome.wustl.edu 37 3 112991965 112991965 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 112991965 112991965 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known silent c.1011 p.G337 0.857 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 73 0 0 99 7 6.60377 KIAA2018 0 genome.wustl.edu 37 3 113378505 113378505 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 113378505 113378505 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.2024 p.P675H 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 227 0 0 194 15 7.17703 PLXNA1 0 genome.wustl.edu 37 3 126741073 126741073 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 126741073 126741073 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4184 p.T1395M 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 41 0 0 14 7 33.3333 PLXNA1 0 genome.wustl.edu 37 3 126747142 126747142 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 126747142 126747142 T C SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4628 p.V1543A 0.968 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 31 0 0 36 3 7.69231 TMEM40 0 genome.wustl.edu 37 3 12783970 12783970 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 12783970 12783970 T G SNP TMEM40 ENST00000431022 human ensembl 74_37 -1 known missense c.386 p.E129A 0.336 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 211 1 0.471698 137 96 41.2017 COPG1 0 genome.wustl.edu 37 3 128979597 128979597 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 128979597 128979597 C T SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.1075 p.R359C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 122 0 0 104 12 10.3448 PIK3R4 0 genome.wustl.edu 37 3 130435316 130435316 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 130435316 130435316 C T SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.2255 p.R752Q 1.000 NULL pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 119 0 0 85 58 40.5594 DNAJC13 0 genome.wustl.edu 37 3 132184906 132184906 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 132184906 132184906 C T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.1960 p.R654C 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 84 0 0 50 25 33.3333 PRR23A 0 genome.wustl.edu 37 3 138724625 138724625 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 138724625 138724625 G A SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known silent c.486 p.P162 0.014 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 20 0 0 12 14 53.8462 LSM3 0 genome.wustl.edu 37 3 14239580 14239580 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 14239580 14239580 C T SNP LSM3 ENST00000306024 human ensembl 74_37 +1 known silent c.273 p.G91 0.521 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM3 HGNC ENSG00000170860 108 0 0 98 13 11.7117 GRIP2 0 genome.wustl.edu 37 3 14554310 14554310 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 14554310 14554310 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.907 - - - no_errors GRIP2 HGNC ENSG00000144596 47 0 0 36 5 12.1951 AADAC 0 genome.wustl.edu 37 3 151545776 151545776 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 151545776 151545776 C A SNP AADAC ENST00000232892 human ensembl 74_37 +1 known missense c.1016 p.T339N 1.000 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 181 0 0 110 73 39.8907 SH3BP5-AS1 0 genome.wustl.edu 37 3 15297405 15297405 + RNA SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 15297405 15297405 T C SNP SH3BP5-AS1 ENST00000420195 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SH3BP5-AS1 HGNC ENSG00000224660 15 0 0 9 7 43.75 DHX36 0 genome.wustl.edu 37 3 154022719 154022719 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 154022719 154022719 A C SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.1011 p.H337Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 90 0 0 54 23 29.8701 KCNAB1 0 genome.wustl.edu 37 3 155838427 155838427 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 155838427 155838427 G A SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known silent c.27 p.A9 0.003 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 264 0 0 187 100 34.8432 RFTN1 0 genome.wustl.edu 37 3 16419244 16419244 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 16419244 16419244 A G SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known silent c.807 p.H269 0.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 185 0 0 104 65 38.4615 ACTL6A 0 genome.wustl.edu 37 3 179298929 179298929 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 179298929 179298929 G A SNP ACTL6A ENST00000429709 human ensembl 74_37 +1 known missense c.947 p.G316E 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6A HGNC ENSG00000136518 376 0 0 234 105 30.9735 CHRD 0 genome.wustl.edu 37 3 184105786 184105786 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 184105786 184105786 G A SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.2519 p.R840H 1.000 pfam_VWF_C,smart_VWF_C,pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 28 0 0 20 10 33.3333 RTP1 0 genome.wustl.edu 37 3 186917755 186917755 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 186917755 186917755 C T SNP RTP1 ENST00000312295 human ensembl 74_37 +1 known missense c.689 p.T230M 0.000 NULL NULL - no_errors RTP1 HGNC ENSG00000175077 117 0 0 68 43 38.7387 LMLN 0 genome.wustl.edu 37 3 197703560 197703560 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 197703560 197703560 G A SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.523 p.V175I 0.020 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 194 0 0 199 43 17.7686 LMLN 0 genome.wustl.edu 37 3 197751646 197751646 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 197751646 197751646 G A SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.1643 p.S548N 0.997 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 234 0 0 158 73 31.6017 LINC00691 0 genome.wustl.edu 37 3 24138609 24138609 + RNA SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 24138609 24138609 A G SNP LINC00691 ENST00000436123 human ensembl 74_37 -1 known rna NULL NULL 0.794 - - - no_errors LINC00691 HGNC ENSG00000224074 11 0 0 16 14 46.6667 TGFBR2 0 genome.wustl.edu 37 3 30713226 30713226 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 30713226 30713226 T A SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.626 p.I209N 0.949 pirsf_Transform_growth_fac-b_typ-2 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 98 0 0 59 46 43.8095 PDCD6IP 0 genome.wustl.edu 37 3 33907899 33907899 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 33907899 33907899 A T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.2504 p.N835I 0.951 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 168 0 0 109 59 35.119 GORASP1 0 genome.wustl.edu 37 3 39139895 39139895 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 39139895 39139895 C T SNP GORASP1 ENST00000319283 human ensembl 74_37 -1 known silent c.1155 p.Q385 1.000 NULL pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC ENSG00000114745 74 0 0 58 27 31.7647 XIRP1 0 genome.wustl.edu 37 3 39227515 39227515 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 39227515 39227515 C A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.3422 p.G1141V 0.960 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 157 0 0 101 52 33.9869 SLC25A38 0 genome.wustl.edu 37 3 39433004 39433004 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 39433004 39433004 C T SNP SLC25A38 ENST00000273158 human ensembl 74_37 +1 known nonsense c.349 p.R117* 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 457 2 0.43573 313 179 36.3821 MYRIP 0 genome.wustl.edu 37 3 40192665 40192665 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 40192665 40192665 C T SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known silent c.459 p.F153 0.231 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 19 0 0 14 10 41.6667 ZNF619 0 genome.wustl.edu 37 3 40528780 40528780 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 40528780 40528780 A G SNP ZNF619 ENST00000447116 human ensembl 74_37 +1 known missense c.899 p.Y300C 0.005 pfam_Znf_C2H2,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 ZNF619 HGNC ENSG00000177873 106 0 0 63 56 47.0588 TRAK1 0 genome.wustl.edu 37 3 42244033 42244033 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 42244033 42244033 G A SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known silent c.1359 p.S453 0.113 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 41 0 0 33 17 34 CCDC13 0 genome.wustl.edu 37 3 42772008 42772008 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 42772008 42772008 C T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known missense c.1669 p.E557K 0.933 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 51 0 0 38 31 44.9275 SACM1L 0 genome.wustl.edu 37 3 45745000 45745000 + Missense_Mutation SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 45745000 45745000 C G SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known missense c.103 p.R35G 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 188 0 0 122 72 37.1134 ALS2CL 0 genome.wustl.edu 37 3 46722765 46722765 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 46722765 46722765 G A SNP ALS2CL ENST00000434140 human ensembl 74_37 -1 known missense c.1403 p.A468V 0.728 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC ENSG00000178038 198 0 0 219 16 6.80851 NBEAL2 0 genome.wustl.edu 37 3 47037248 47037248 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 47037248 47037248 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.1943 p.A648V 0.019 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 38 0 0 18 15 45.4545 FBXW12 0 genome.wustl.edu 37 3 48422396 48422396 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 48422396 48422396 A G SNP FBXW12 ENST00000296438 human ensembl 74_37 +1 known missense c.979 p.I327V 0.000 superfamily_Quino_amine_DH_bsu pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXW12 HGNC ENSG00000164049 97 0 0 47 37 44.0476 COL7A1 0 genome.wustl.edu 37 3 48619157 48619157 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 48619157 48619157 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.4704 p.T1568 0.000 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 230 0 0 148 95 39.0947 BSN 0 genome.wustl.edu 37 3 49680130 49680130 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 49680130 49680130 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.1063 p.A355T 0.998 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 84 0 0 31 30 49.1803 TEX264 0 genome.wustl.edu 37 3 51733548 51733548 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 51733548 51733548 C T SNP TEX264 ENST00000341333 human ensembl 74_37 +1 known missense c.607 p.R203W 0.158 NULL superfamily_Reg_factor_effector_dom - no_errors TEX264 HGNC ENSG00000164081 163 0 0 120 76 38.7755 CACNA2D3 0 genome.wustl.edu 37 3 54922040 54922040 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 54922040 54922040 T A SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2111 p.I704N 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 111 0 0 76 59 43.7037 FAM208A 0 genome.wustl.edu 37 3 56657683 56657683 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 56657683 56657683 C T SNP FAM208A ENST00000485156 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM208A HGNC ENSG00000163946 70 0 0 29 30 50.8475 FAM208A 0 genome.wustl.edu 37 3 56675690 56675690 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 56675690 56675690 T C SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.2306 p.H769R 0.771 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 178 0 0 92 68 42.5 FLNB 0 genome.wustl.edu 37 3 58121816 58121816 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 58121816 58121816 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.4782 p.Y1594 0.635 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 57 0 0 32 18 36 FAM3D 0 genome.wustl.edu 37 3 58631238 58631238 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 58631238 58631238 G A SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known silent c.261 p.R87 0.000 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 20 0 0 23 11 32.3529 EBLN2 0 genome.wustl.edu 37 3 73112038 73112038 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 73112038 73112038 G A SNP EBLN2 ENST00000533473 human ensembl 74_37 +1 known missense c.806 p.R269H 0.001 NULL pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir - no_errors EBLN2 HGNC ENSG00000255423 390 1 0.255754 341 19 5.27778 PROS1 0 genome.wustl.edu 37 3 93611853 93611853 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 93611853 93611853 T A SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1079 p.E360V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 192 0 0 125 61 32.7957 STX19 0 genome.wustl.edu 37 3 93733837 93733837 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 93733837 93733837 T C SNP STX19 ENST00000315099 human ensembl 74_37 -1 known missense c.277 p.T93A 1.000 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX19 HGNC ENSG00000178750 370 0 0 218 135 38.2436 TTLL3 0 genome.wustl.edu 37 3 9877137 9877137 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 9877137 9877137 G A SNP TTLL3 ENST00000426895 human ensembl 74_37 +1 known silent c.2712 p.A904 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 212 0 0 150 108 41.8605 CXXC4 0 genome.wustl.edu 37 4 105412064 105412064 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 105412064 105412064 T C SNP CXXC4 ENST00000394767 human ensembl 74_37 -1 known missense c.896 p.N299S 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC4 HGNC ENSG00000168772 118 0 0 86 54 38.5714 NDNF 0 genome.wustl.edu 37 4 121958294 121958294 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 121958294 121958294 G A SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.832 p.R278C 0.992 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 138 1 0.719424 114 8 6.55738 FAT4 0 genome.wustl.edu 37 4 126239229 126239229 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 126239229 126239229 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1663 p.R555W 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 84 0 0 43 33 43.4211 PCDH18 0 genome.wustl.edu 37 4 138452975 138452975 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 138452975 138452975 C T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.268 p.A90T 0.987 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 417 0 0 246 125 33.6927 KIAA0922 0 genome.wustl.edu 37 4 154523729 154523729 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 154523729 154523729 G A SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.2489 p.R830Q 0.999 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 185 0 0 114 63 35.5932 DCHS2 0 genome.wustl.edu 37 4 155155840 155155840 + Nonsense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 155155840 155155840 C A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known nonsense c.8599 p.E2867* 0.633 NULL pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 192 0 0 147 91 38.2353 DCHS2 0 genome.wustl.edu 37 4 155157007 155157007 + Nonsense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 155157007 155157007 C A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known nonsense c.7432 p.G2478* 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 189 1 0.526316 124 72 36.7347 ASIC5 0 genome.wustl.edu 37 4 156784774 156784774 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 156784774 156784774 C T SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known missense c.173 p.S58N 0.998 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 142 0 0 76 44 36.6667 PDGFC 0 genome.wustl.edu 37 4 157684333 157684333 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 157684333 157684333 C T SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known missense c.947 p.G316D 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 149 1 0.666667 83 69 45.3947 GRIA2 0 genome.wustl.edu 37 4 158262574 158262574 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 158262574 158262574 A G SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2003 p.Y668C 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 260 0 0 246 46 15.7534 KLHL2 0 genome.wustl.edu 37 4 166231877 166231877 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 166231877 166231877 T C SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known silent c.1212 p.A404 0.132 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 348 0 0 243 155 38.9447 DDX60L 0 genome.wustl.edu 37 4 169351672 169351672 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 169351672 169351672 C T SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.1634 p.R545Q 0.000 NULL 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 - no_errors DDX60L HGNC ENSG00000181381 54 0 0 37 16 30.1887 TACC3 0 genome.wustl.edu 37 4 1729454 1729454 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 1729454 1729454 G A SNP TACC3 ENST00000313288 human ensembl 74_37 +1 known missense c.325 p.V109M 0.001 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 561 0 0 547 86 13.5861 GALNTL6 0 genome.wustl.edu 37 4 173803946 173803946 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 173803946 173803946 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.929 p.P310L 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 372 0 0 236 149 38.7013 FGFR3 0 genome.wustl.edu 37 4 1803602 1803602 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 1803602 1803602 G A SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known silent c.780 p.P260 0.113 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 10 0 0 4 12 75 DCTD 0 genome.wustl.edu 37 4 183815681 183815681 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 183815681 183815681 A C SNP DCTD ENST00000357067 human ensembl 74_37 -1 known missense c.355 p.F119V 1.000 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase - no_errors DCTD HGNC ENSG00000129187 81 0 0 53 20 27.3973 TRAPPC11 0 genome.wustl.edu 37 4 184596387 184596387 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 184596387 184596387 T G SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known missense c.731 p.L244R 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 44 0 0 30 20 40 IRF2 0 genome.wustl.edu 37 4 185339729 185339729 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 185339729 185339729 C A SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.321 p.R107S 0.995 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 164 0 0 101 65 39.1566 LRP2BP 0 genome.wustl.edu 37 4 186295603 186295603 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 186295603 186295603 C A SNP LRP2BP ENST00000362004 human ensembl 74_37 -1 known missense c.349 p.D117Y 0.989 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors LRP2BP HGNC ENSG00000109771 188 0 0 101 69 40.5882 CCDC110 0 genome.wustl.edu 37 4 186380474 186380474 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 186380474 186380474 G A SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known nonsense c.1267 p.Q423* 0.958 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 371 0 0 221 135 37.9213 WHSC1 0 genome.wustl.edu 37 4 1941423 1941423 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 1941423 1941423 G A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.1799 p.R600Q 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 128 0 0 60 52 46.4286 HTT 0 genome.wustl.edu 37 4 3182362 3182362 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 3182362 3182362 T C SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.4733 p.L1578P 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 134 1 0.740741 147 30 16.9492 RGS12 0 genome.wustl.edu 37 4 3429895 3429895 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 3429895 3429895 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.3410 p.T1137M 0.999 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 108 0 0 86 52 37.6812 DOK7 0 genome.wustl.edu 37 4 3487306 3487306 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 3487306 3487306 G A SNP DOK7 ENST00000507039 human ensembl 74_37 +1 novel missense c.562 p.D188N 1.000 NULL smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOK7 HGNC ENSG00000175920 54 0 0 44 24 35.2941 RELL1 0 genome.wustl.edu 37 4 37636679 37636679 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 37636679 37636679 C T SNP RELL1 ENST00000314117 human ensembl 74_37 -1 known silent c.510 p.T170 0.759 NULL pfam_TNF_rcpt_RELT - no_errors RELL1 HGNC ENSG00000181826 71 0 0 32 27 45.7627 ATP8A1 0 genome.wustl.edu 37 4 42466947 42466947 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 42466947 42466947 A C SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.2471 p.L824R 0.997 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 105 0 0 80 15 15.7895 SPATA18 0 genome.wustl.edu 37 4 52951146 52951146 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 52951146 52951146 G A SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.1544 p.S515N 0.099 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 147 0 0 100 77 43.5028 PDGFRA 0 genome.wustl.edu 37 4 55143602 55143602 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 55143602 55143602 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.1834 p.A612T 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 137 0 0 88 51 36.6906 KIAA1211 0 genome.wustl.edu 37 4 57181050 57181050 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 57181050 57181050 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.1382 p.R461Q 0.001 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 13 0 0 4 4 50 CRMP1 0 genome.wustl.edu 37 4 5838577 5838577 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 5838577 5838577 G A SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1367 p.A456V 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 127 0 0 100 51 33.7748 UGT2B10 0 genome.wustl.edu 37 4 69693173 69693173 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 69693173 69693173 T C SNP UGT2B10 ENST00000265403 human ensembl 74_37 +1 known missense c.1214 p.M405T 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 387 0 0 267 150 35.9712 UGT2B28 0 genome.wustl.edu 37 4 70156391 70156391 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 70156391 70156391 T C SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.1172 p.V391A 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 370 0 0 174 67 27.8008 PPEF2 0 genome.wustl.edu 37 4 76797712 76797712 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 76797712 76797712 C T SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.1048 p.E350K 0.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 57 0 0 56 27 32.5301 FAM47E-STBD1 0 genome.wustl.edu 37 4 77230640 77230640 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 77230640 77230640 C T SNP FAM47E-STBD1 ENST00000237642 human ensembl 74_37 +1 known silent c.564 p.S188 0.000 NULL pfam_CBM_fam20,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors FAM47E-STBD1 HGNC ENSG00000118804 125 0 0 66 33 33.3333 CCDC158 0 genome.wustl.edu 37 4 77255321 77255321 + Splice_Site SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 77255321 77255321 C T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known splice_site c.2665-1 e17-1 1.000 - - - no_errors CCDC158 HGNC ENSG00000163749 230 0 0 190 25 11.6279 SOWAHB 0 genome.wustl.edu 37 4 77816917 77816917 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 77816917 77816917 G A SNP SOWAHB ENST00000334306 human ensembl 74_37 -1 known missense c.2086 p.R696W 0.396 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHB HGNC ENSG00000186212 500 0 0 299 214 41.7154 CCNI 0 genome.wustl.edu 37 4 77969731 77969731 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 77969731 77969731 C T SNP CCNI ENST00000237654 human ensembl 74_37 -1 known missense c.775 p.V259I 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNI HGNC ENSG00000118816 126 0 0 89 54 37.7622 PRKG2 0 genome.wustl.edu 37 4 82126113 82126113 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 82126113 82126113 A G SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.89 p.V30A 0.998 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 119 0 0 98 20 16.9492 HTRA3 0 genome.wustl.edu 37 4 8293275 8293275 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 8293275 8293275 C T SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known missense c.887 p.T296M 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 27 0 0 32 4 11.1111 ACOX3 0 genome.wustl.edu 37 4 8394073 8394073 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 8394073 8394073 G A SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known silent c.1287 p.H429 0.999 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 305 0 0 231 169 42.25 ATOH1 0 genome.wustl.edu 37 4 94750420 94750420 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 94750420 94750420 A G SNP ATOH1 ENST00000306011 human ensembl 74_37 +1 known missense c.343 p.S115G 0.290 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 13 0 0 13 6 31.5789 CTNND2 0 genome.wustl.edu 37 5 11082809 11082809 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 11082809 11082809 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2787 p.I929 0.012 superfamily_ARM-type_fold,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 131 0 0 84 67 44.3709 DCP2 0 genome.wustl.edu 37 5 112327834 112327834 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 112327834 112327834 G A SNP DCP2 ENST00000389063 human ensembl 74_37 +1 known silent c.222 p.P74 0.071 pfam_mRNA_decapping_BoxA pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 336 0 0 220 123 35.8601 PGGT1B 0 genome.wustl.edu 37 5 114573623 114573623 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 114573623 114573623 G A SNP PGGT1B ENST00000419445 human ensembl 74_37 -1 known silent c.411 p.D137 0.807 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 192 0 0 128 73 36.3184 DMXL1 0 genome.wustl.edu 37 5 118486082 118486082 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 118486082 118486082 C T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.4560 p.S1520 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 265 0 0 139 102 42.3237 CEP120 0 genome.wustl.edu 37 5 122734964 122734964 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 122734964 122734964 C T SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.478 p.A160T 0.000 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 108 0 0 78 41 34.4538 FBN2 0 genome.wustl.edu 37 5 127800499 127800499 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 127800499 127800499 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.744 p.G248 0.981 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 80 0 0 70 41 36.9369 ADAMTS19 0 genome.wustl.edu 37 5 129070744 129070744 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 129070744 129070744 C T SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known silent c.3414 p.C1138 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 203 0 0 173 25 12.6263 TERT 0 genome.wustl.edu 37 5 1294283 1294283 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 1294283 1294283 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.718 p.R240C 0.000 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 9 0 0 8 6 42.8571 TGFBI 0 genome.wustl.edu 37 5 135385251 135385251 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 135385251 135385251 G A SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.895 p.D299N 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 38 0 0 18 15 45.4545 SMAD5 0 genome.wustl.edu 37 5 135513177 135513177 + RNA SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 135513177 135513177 T C SNP SMAD5 ENST00000514641 human ensembl 74_37 +1 known rna NULL NULL 0.148 - - - no_errors SMAD5 HGNC ENSG00000113658 34 0 0 12 12 50 BRD8 0 genome.wustl.edu 37 5 137486467 137486467 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 137486467 137486467 A G SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known silent c.3087 p.C1029 0.007 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 263 0 0 166 97 36.8821 GFRA3 0 genome.wustl.edu 37 5 137600037 137600037 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 137600037 137600037 G A SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.292 p.L98 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 110 0 0 86 57 39.8601 SLC23A1 0 genome.wustl.edu 37 5 138715466 138715466 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 138715466 138715466 C T SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known missense c.838 p.V280M 0.904 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 139 0 0 117 67 36.413 PSD2 0 genome.wustl.edu 37 5 139197119 139197119 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 139197119 139197119 C T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.1070 p.S357L 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 79 0 0 54 38 41.3043 CYSTM1 0 genome.wustl.edu 37 5 139574044 139574044 + RNA SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 139574044 139574044 G C SNP CYSTM1 ENST00000504227 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors CYSTM1 HGNC ENSG00000120306 210 0 0 135 99 42.3077 PCDHA3 0 genome.wustl.edu 37 5 140182832 140182832 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140182832 140182832 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.2050 p.A684T 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 74 0 0 38 36 48.6486 PCDHA4 0 genome.wustl.edu 37 5 140189048 140189048 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140189048 140189048 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.2276 p.C759Y 0.909 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 127 1 0.78125 116 29 20 PCDHA5 0 genome.wustl.edu 37 5 140203226 140203226 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140203226 140203226 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1866 p.R622 1.000 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 PCDHA5 HGNC ENSG00000204965 67 0 0 64 4 5.88235 PCDHA13 0 genome.wustl.edu 37 5 140262616 140262616 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140262616 140262616 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.763 p.A255T 0.001 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 216 0 0 138 60 30.303 PCDHB6 0 genome.wustl.edu 37 5 140530204 140530204 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140530204 140530204 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.366 p.V122 0.000 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 152 0 0 124 63 33.6898 PCDHB12 0 genome.wustl.edu 37 5 140588928 140588928 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140588928 140588928 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.449 p.A150V 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 204 0 0 123 71 36.5979 PCDHB18 0 genome.wustl.edu 37 5 140615866 140615866 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140615866 140615866 C T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.298 - - - no_errors PCDHB18 HGNC ENSG00000146001 64 0 0 53 4 7.01754 PCDHGB1 0 genome.wustl.edu 37 5 140730469 140730469 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140730469 140730469 C T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known silent c.642 p.G214 0.068 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 64 0 0 49 23 31.9444 PCDHGA6 0 genome.wustl.edu 37 5 140753737 140753737 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140753737 140753737 G A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.87 p.A29 0.049 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 35 0 0 22 16 42.1053 PCDHGA8 0 genome.wustl.edu 37 5 140773115 140773115 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140773115 140773115 G A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.735 p.P245 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 173 0 0 91 83 47.7011 PCDHGB7 0 genome.wustl.edu 37 5 140799314 140799314 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140799314 140799314 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.1888 p.R630C 0.459 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 57 0 0 32 21 39.6226 DIAPH1 0 genome.wustl.edu 37 5 140951529 140951529 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140951529 140951529 C T SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.2437 p.A813T 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 167 1 0.595238 127 71 35.8586 KIAA0141 0 genome.wustl.edu 37 5 141309272 141309272 + Nonsense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 141309272 141309272 A T SNP KIAA0141 ENST00000194118 human ensembl 74_37 +1 known nonsense c.538 p.R180* 0.002 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 60 0 0 45 36 44.4444 SPRY4 0 genome.wustl.edu 37 5 141694197 141694197 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 141694197 141694197 G A SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known silent c.546 p.C182 0.910 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 127 0 0 92 48 34.2857 POU4F3 0 genome.wustl.edu 37 5 145719822 145719822 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 145719822 145719822 C T SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.832 p.R278C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 59 0 0 47 25 34.7222 PPP2R2B 0 genome.wustl.edu 37 5 146030225 146030225 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 146030225 146030225 G A SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known silent c.708 p.N236 0.983 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 102 0 0 56 30 34.8837 AFAP1L1 0 genome.wustl.edu 37 5 148697298 148697298 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 148697298 148697298 T C SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.1274 p.L425P 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 20 0 0 28 5 15.1515 PDGFRB 0 genome.wustl.edu 37 5 149502704 149502704 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 149502704 149502704 C T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.2084 p.R695H 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 108 0 0 108 18 14.2857 G3BP1 0 genome.wustl.edu 37 5 151179857 151179857 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 151179857 151179857 G A SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known missense c.1034 p.G345D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 152 0 0 166 11 6.21469 MYO10 0 genome.wustl.edu 37 5 16711279 16711279 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 16711279 16711279 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.2005 p.R669C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 46 0 0 17 17 50 DOCK2 0 genome.wustl.edu 37 5 169477281 169477281 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 169477281 169477281 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4093 p.G1365R 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 299 0 0 180 129 41.7476 HRH2 0 genome.wustl.edu 37 5 175110616 175110616 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 175110616 175110616 C A SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.380 p.P127H 0.943 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 79 0 0 44 30 40.5405 CDHR2 0 genome.wustl.edu 37 5 176004529 176004529 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 176004529 176004529 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.1324 p.E442K 0.987 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 36 0 0 29 7 19.4444 SNCB 0 genome.wustl.edu 37 5 176056582 176056582 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 176056582 176056582 C T SNP SNCB ENST00000310112 human ensembl 74_37 -1 known missense c.74 p.G25E 1.000 pfam_Synuclein,prints_Synuclein pfam_Synuclein,prints_Synuclein,prints_Synuclein_beta - no_errors SNCB HGNC ENSG00000074317 16 0 0 8 7 46.6667 FLT4 0 genome.wustl.edu 37 5 180047183 180047183 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 180047183 180047183 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.2532 p.R844 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 71 0 0 88 13 12.8713 BTNL8 0 genome.wustl.edu 37 5 180338566 180338566 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 180338566 180338566 C T SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known missense c.625 p.R209W 0.044 smart_Ig_sub,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 146 0 0 77 51 39.8438 BTNL3 0 genome.wustl.edu 37 5 180432460 180432460 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 180432460 180432460 T A SNP BTNL3 ENST00000342868 human ensembl 74_37 +1 known missense c.989 p.V330E 0.857 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL3 HGNC ENSG00000168903 150 1 0.662252 108 72 40 RXFP3 0 genome.wustl.edu 37 5 33937420 33937420 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 33937420 33937420 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.575 p.R192Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 55 0 0 32 15 31.9149 UGT3A1 0 genome.wustl.edu 37 5 35955903 35955903 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 35955903 35955903 C T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.1139 p.R380H 0.501 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 151 0 0 101 58 36.478 RICTOR 0 genome.wustl.edu 37 5 38942984 38942984 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 38942984 38942984 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.5075 p.P1692L 0.627 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 119 0 0 61 44 41.9048 DHX29 0 genome.wustl.edu 37 5 54573111 54573111 + Splice_Site SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 54573111 54573111 C G SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known splice_site c.2110-1 e13-1 1.000 - - - no_errors DHX29 HGNC ENSG00000067248 103 0 0 72 39 35.1351 KIAA0947 0 genome.wustl.edu 37 5 5464464 5464464 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 5464464 5464464 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.5017 p.R1673C 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 287 0 0 239 42 14.9466 PDE4D 0 genome.wustl.edu 37 5 58295328 58295328 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 58295328 58295328 C A SNP PDE4D ENST00000317118 human ensembl 74_37 -1 known missense c.36 p.W12C 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 86 0 0 86 20 18.8679 PAPD7 0 genome.wustl.edu 37 5 6742688 6742688 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 6742688 6742688 A T SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.344 p.E115V 1.000 pfam_Nucleotidyltransferase pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 83 0 0 60 29 32.5843 SLC30A5 0 genome.wustl.edu 37 5 68417584 68417584 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 68417584 68417584 A G SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known missense c.1633 p.S545G 0.935 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 47 0 0 20 26 56.5217 BDP1 0 genome.wustl.edu 37 5 70805815 70805815 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 70805815 70805815 C A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.2896 p.P966T 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 128 0 0 88 57 39.3103 ADCY2 0 genome.wustl.edu 37 5 7414769 7414769 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 7414769 7414769 C T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.294 p.I98 0.051 NULL 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 253 0 0 174 97 35.7934 AP3B1 0 genome.wustl.edu 37 5 77536745 77536745 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 77536745 77536745 T C SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.220 p.K74E 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 289 0 0 293 20 6.38978 MTRR 0 genome.wustl.edu 37 5 7892923 7892923 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 7892923 7892923 G A SNP MTRR ENST00000264668 human ensembl 74_37 +1 known missense c.1535 p.R512Q 0.986 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 177 0 0 145 74 33.79 VCAN 0 genome.wustl.edu 37 5 82835880 82835880 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 82835880 82835880 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.7058 p.T2353M 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 136 0 0 75 43 36.4407 VCAN 0 genome.wustl.edu 37 5 82850774 82850774 + Splice_Site SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 82850774 82850774 G T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known splice_site c.9653-1 e11-1 1.000 - - - no_errors VCAN HGNC ENSG00000038427 152 0 0 87 44 33.5878 RASA1 0 genome.wustl.edu 37 5 86659293 86659293 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 86659293 86659293 T C SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1582 p.Y528H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 199 0 0 114 84 42.4242 GPR98 0 genome.wustl.edu 37 5 89939634 89939634 + Nonsense_Mutation SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 89939634 89939634 C G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known nonsense c.2568 p.Y856* 0.731 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 35 0 0 24 13 35.1351 GPR98 0 genome.wustl.edu 37 5 89939651 89939651 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 89939651 89939651 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.2585 p.S862I 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 39 0 0 29 10 25.641 MAK 0 genome.wustl.edu 37 6 10830846 10830846 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 10830846 10830846 G A SNP MAK ENST00000313243 human ensembl 74_37 -1 known silent c.36 p.D12 0.908 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAK HGNC ENSG00000111837 138 0 0 65 46 41.4414 CEP57L1 0 genome.wustl.edu 37 6 109481930 109481930 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 109481930 109481930 T G SNP CEP57L1 ENST00000368968 human ensembl 74_37 +1 putative missense c.1172 p.L391R 0.005 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 81 0 0 87 10 10.3093 REV3L 0 genome.wustl.edu 37 6 111695978 111695978 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 111695978 111695978 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known nonsense c.3580 p.R1194* 0.999 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 282 0 0 187 83 30.7407 GOPC 0 genome.wustl.edu 37 6 117894769 117894769 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 117894769 117894769 C T SNP GOPC ENST00000368498 human ensembl 74_37 -1 known missense c.677 p.R226Q 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GOPC HGNC ENSG00000047932 258 0 0 152 105 40.856 HDDC2 0 genome.wustl.edu 37 6 125619868 125619868 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 125619868 125619868 G A SNP HDDC2 ENST00000398153 human ensembl 74_37 -1 known nonsense c.301 p.R101* 0.997 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 124 0 0 141 8 5.36913 LAMA2 0 genome.wustl.edu 37 6 129766950 129766950 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 129766950 129766950 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.6413 p.R2138Q 1.000 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 74 0 0 39 30 43.4783 GFOD1 0 genome.wustl.edu 37 6 13365208 13365208 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 13365208 13365208 G A SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.940 p.R314C 1.000 NULL pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 37 0 0 47 10 17.5439 RANBP9 0 genome.wustl.edu 37 6 13639807 13639807 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 13639807 13639807 C T SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known missense c.1513 p.A505T 0.998 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 132 0 0 100 57 36.3057 MAP3K5 0 genome.wustl.edu 37 6 136926362 136926362 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 136926362 136926362 T C SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.2664 p.Q888 0.988 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,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 230 0 0 150 94 38.5246 ECT2L 0 genome.wustl.edu 37 6 139202208 139202208 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 139202208 139202208 G A SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known missense c.1780 p.A594T 0.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 92 0 0 76 7 8.43373 AKAP12 0 genome.wustl.edu 37 6 151672225 151672225 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 151672225 151672225 C T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.2699 p.T900M 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 73 0 0 53 41 43.617 C6orf211 0 genome.wustl.edu 37 6 151790214 151790214 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 151790214 151790214 A G SNP C6orf211 ENST00000367294 human ensembl 74_37 +1 known missense c.1295 p.Y432C 0.999 NULL pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 85 0 0 50 10 16.6667 SCAF8 0 genome.wustl.edu 37 6 155114112 155114112 + Splice_Site SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 155114112 155114112 T C SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known splice_site c.673+2 e7+2 1.000 - - - no_errors SCAF8 HGNC ENSG00000213079 104 0 0 76 22 22.449 TULP4 0 genome.wustl.edu 37 6 158925205 158925205 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 158925205 158925205 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.4510 p.R1504W 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 15 0 0 7 7 50 RPS6KA2 0 genome.wustl.edu 37 6 166844007 166844007 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 166844007 166844007 C T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known silent c.1590 p.S530 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 116 0 0 115 9 7.25806 NHLRC1 0 genome.wustl.edu 37 6 18122487 18122487 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 18122487 18122487 G A SNP NHLRC1 ENST00000340650 human ensembl 74_37 -1 known silent c.351 p.H117 0.003 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 21 0 0 22 16 42.1053 MBOAT1 0 genome.wustl.edu 37 6 20126880 20126880 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 20126880 20126880 A C SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.582 p.S194R 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 224 0 0 164 30 15.4639 GPLD1 0 genome.wustl.edu 37 6 24436892 24436892 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 24436892 24436892 C T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.2270 p.R757Q 0.975 smart_Int_alpha_beta-p,prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 175 0 0 100 83 45.3552 GPLD1 0 genome.wustl.edu 37 6 24437377 24437377 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 24437377 24437377 C T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.2161 p.V721I 0.339 smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 148 0 0 93 45 32.6087 ABT1 0 genome.wustl.edu 37 6 26598635 26598635 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 26598635 26598635 G A SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known missense c.581 p.R194H 0.730 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 76 0 0 56 30 34.8837 HIST1H4K 0 genome.wustl.edu 37 6 27799049 27799049 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 27799049 27799049 T C SNP HIST1H4K ENST00000357549 human ensembl 74_37 -1 known missense c.257 p.D86G 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC ENSG00000197914 68 0 0 79 5 5.95238 OR10C1 0 genome.wustl.edu 37 6 29408484 29408484 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 29408484 29408484 C T SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known missense c.692 p.A231V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 341 0 0 236 128 35.1648 HLA-L 0 genome.wustl.edu 37 6 30229066 30229066 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 30229066 30229066 G A SNP HLA-L ENST00000463348 human ensembl 74_37 +1 known rna NULL NULL 0.770 - - - no_errors HLA-L HGNC ENSG00000243753 174 0 0 167 11 6.17978 PPP1R10 0 genome.wustl.edu 37 6 30571998 30571998 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 30571998 30571998 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.1295 p.A432V 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 206 0 0 105 74 41.3408 MUC21 0 genome.wustl.edu 37 6 30954121 30954121 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 30954121 30954121 G A SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known missense c.169 p.V57I 0.000 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 197 0 0 190 11 5.47264 HLA-B 0 genome.wustl.edu 37 6 31323280 31323280 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 31323280 31323280 T A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.709 p.I237F 0.805 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 171 0 0 191 23 10.7477 C6orf25 0 genome.wustl.edu 37 6 31691442 31691442 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 31691442 31691442 C T SNP C6orf25 ENST00000375806 human ensembl 74_37 +1 known missense c.88 p.R30W 0.993 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 43 0 0 38 20 34.4828 VARS 0 genome.wustl.edu 37 6 31749307 31749307 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 31749307 31749307 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.2495 p.R832Q 1.000 pfam_aa-tRNA-synth_Ia,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 48 0 0 34 27 44.2623 HSPA1L 0 genome.wustl.edu 37 6 31779305 31779305 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 31779305 31779305 G A SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known missense c.445 p.P149S 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 109 0 0 77 12 13.4831 HSPA1A 0 genome.wustl.edu 37 6 31783569 31783569 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 31783569 31783569 C T SNP HSPA1A ENST00000375651 human ensembl 74_37 +1 known silent c.36 p.G12 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC ENSG00000204389 79 0 0 47 23 32.8571 ZBTB12 0 genome.wustl.edu 37 6 31868445 31868445 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 31868445 31868445 A G SNP ZBTB12 ENST00000375527 human ensembl 74_37 -1 known missense c.638 p.V213A 0.998 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 ZBTB12 HGNC ENSG00000204366 105 0 0 72 46 38.9831 TAP2 0 genome.wustl.edu 37 6 32798147 32798147 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 32798147 32798147 G A SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.1532 p.T511I 0.998 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 81 0 0 43 28 39.4366 IP6K3 0 genome.wustl.edu 37 6 33694543 33694543 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 33694543 33694543 C T SNP IP6K3 ENST00000293756 human ensembl 74_37 -1 known missense c.554 p.R185H 1.000 NULL pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 90 0 0 105 7 6.25 TFEB 0 genome.wustl.edu 37 6 41657522 41657522 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 41657522 41657522 G A SNP TFEB ENST00000230323 human ensembl 74_37 -1 known missense c.496 p.R166C 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEB HGNC ENSG00000112561 90 0 0 55 29 34.5238 CAPN11 0 genome.wustl.edu 37 6 44144338 44144338 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 44144338 44144338 T C SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.1022 p.V341A 0.372 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 43 0 0 50 33 39.759 TCTE1 0 genome.wustl.edu 37 6 44249924 44249924 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 44249924 44249924 C T SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.1219 p.A407T 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 65 0 0 50 32 39.0244 TDRD6 0 genome.wustl.edu 37 6 46660256 46660256 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 46660256 46660256 A C SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.4391 p.D1464A 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 269 0 0 172 104 37.6812 GPR110 0 genome.wustl.edu 37 6 46968003 46968003 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 46968003 46968003 A G SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.2689 p.S897P 0.077 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 133 0 0 116 64 35.5556 PGK2 0 genome.wustl.edu 37 6 49753713 49753713 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 49753713 49753713 G A SNP PGK2 ENST00000304801 human ensembl 74_37 -1 known silent c.1188 p.G396 0.656 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 210 0 0 169 37 17.9612 MLIP 0 genome.wustl.edu 37 6 53989529 53989529 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 53989529 53989529 C T SNP MLIP ENST00000274897 human ensembl 74_37 +1 known missense c.478 p.R160W 0.436 NULL NULL - no_errors MLIP HGNC ENSG00000146147 176 0 0 124 67 35.0785 DST 0 genome.wustl.edu 37 6 56469171 56469171 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 56469171 56469171 G T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.10156 p.P3386T 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 46 0 0 36 20 35.7143 DST 0 genome.wustl.edu 37 6 56485185 56485185 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 56485185 56485185 C A SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.3647 p.R1216L 0.993 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 133 0 0 75 57 43.1818 ZNF451 0 genome.wustl.edu 37 6 57013493 57013493 + Splice_Site SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 57013493 57013493 T C SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known splice_site c.2608+2 e10+2 1.000 - - - no_errors ZNF451 HGNC ENSG00000112200 93 0 0 68 17 20 CD109 0 genome.wustl.edu 37 6 74472143 74472143 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 74472143 74472143 G A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.795 p.T265 0.352 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 117 0 0 103 21 16.9355 BMP6 0 genome.wustl.edu 37 6 7879334 7879334 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 7879334 7879334 C T SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.1232 p.A411V 1.000 pfam_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 188 0 0 108 76 41.3043 TXNDC5 0 genome.wustl.edu 37 6 7883385 7883385 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 7883385 7883385 C T SNP TXNDC5 ENST00000379757 human ensembl 74_37 -1 known missense c.1291 p.E431K 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 100 0 0 57 31 35.2273 SPACA1 0 genome.wustl.edu 37 6 88776181 88776181 + RNA SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 88776181 88776181 G A SNP SPACA1 ENST00000462227 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPACA1 HGNC ENSG00000118434 14 0 0 7 5 41.6667 PM20D2 0 genome.wustl.edu 37 6 89871856 89871856 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 89871856 89871856 G A SNP PM20D2 ENST00000275072 human ensembl 74_37 +1 known silent c.1185 p.L395 1.000 pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 179 0 0 139 70 33.4928 MDN1 0 genome.wustl.edu 37 6 90354841 90354841 + Nonsense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 90354841 90354841 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known nonsense c.16495 p.R5499* 0.870 smart_VWF_A,pirsf_Midasin,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 84 0 0 61 54 46.9565 MMS22L 0 genome.wustl.edu 37 6 97711302 97711302 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 97711302 97711302 A G SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.851 p.M284T 0.002 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 214 0 0 227 24 9.56175 POU3F2 0 genome.wustl.edu 37 6 99282812 99282812 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 99282812 99282812 C T SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known silent c.63 p.A21 1.000 pirsf_Transcription_factor_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 14 0 0 18 9 33.3333 PCOLCE-AS1 0 genome.wustl.edu 37 7 100200003 100200003 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 100200003 100200003 C T SNP PCOLCE-AS1 ENST00000442166 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors PCOLCE-AS1 HGNC ENSG00000224729 25 0 0 23 5 17.8571 SRRT 0 genome.wustl.edu 37 7 100479844 100479844 + Missense_Mutation SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 100479844 100479844 C G SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.569 p.A190G 1.000 pfam_DUF3546 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 66 0 0 72 21 22.5806 ACHE 0 genome.wustl.edu 37 7 100488859 100488859 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 100488859 100488859 G A SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.1654 p.R552W 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 35 0 0 37 8 17.7778 AP1S1 0 genome.wustl.edu 37 7 100800008 100800008 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 100800008 100800008 T C SNP AP1S1 ENST00000337619 human ensembl 74_37 +1 known missense c.137 p.M46T 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 12 0 0 15 3 16.6667 DNAJC2 0 genome.wustl.edu 37 7 102962984 102962984 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 102962984 102962984 G A SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.907 p.R303W 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 36 0 0 44 13 22.807 KMT2E 0 genome.wustl.edu 37 7 104753246 104753246 + Silent SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 104753246 104753246 A T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known silent c.5043 p.P1681 0.817 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 13 0 0 20 11 35.4839 CDHR3 0 genome.wustl.edu 37 7 105656435 105656435 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 105656435 105656435 C T SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.1390 p.P464S 0.002 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 37 0 0 55 18 24.6575 DOCK4 0 genome.wustl.edu 37 7 111540481 111540481 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 111540481 111540481 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.1429 p.V477M 1.000 superfamily_C2_dom 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 37 0 0 28 14 33.3333 CTTNBP2 0 genome.wustl.edu 37 7 117432425 117432425 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 117432425 117432425 G A SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known silent c.825 p.S275 0.985 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 147 0 0 88 122 58.0952 CPED1 0 genome.wustl.edu 37 7 120629903 120629903 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 120629903 120629903 T C SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.228 p.G76 0.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 175 0 0 100 133 57.0815 PTPRZ1 0 genome.wustl.edu 37 7 121651782 121651782 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 121651782 121651782 T C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.2682 p.S894 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 102 0 0 98 45 31.4685 SLC13A1 0 genome.wustl.edu 37 7 122808565 122808565 + Missense_Mutation SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 122808565 122808565 C G SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.604 p.V202L 0.982 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 78 0 0 112 8 6.66667 GRM8 0 genome.wustl.edu 37 7 126746712 126746712 + Missense_Mutation SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 126746712 126746712 A C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.565 p.Y189D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 71 0 0 51 65 56.0345 ZNF800 0 genome.wustl.edu 37 7 127014002 127014002 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 127014002 127014002 G A SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known missense c.1388 p.P463L 0.982 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 179 0 0 134 145 51.9713 FLNC 0 genome.wustl.edu 37 7 128496836 128496836 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 128496836 128496836 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.7422 p.G2474 0.153 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 84 0 0 43 49 53.2609 LRGUK 0 genome.wustl.edu 37 7 133948672 133948672 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 133948672 133948672 G A SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.2423 p.R808H 0.000 NULL pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 95 0 0 68 88 56.4103 TRIM24 0 genome.wustl.edu 37 7 138145487 138145487 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 138145487 138145487 G A SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.194 p.S65N 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 21 0 0 17 36 67.9245 ATP6V0A4 0 genome.wustl.edu 37 7 138394473 138394473 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 138394473 138394473 G A SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known silent c.2325 p.I775 0.881 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 167 0 0 133 164 55.2189 ZC3HAV1 0 genome.wustl.edu 37 7 138764890 138764890 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 138764890 138764890 G A SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.797 p.A266V 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 276 0 0 403 44 9.8434 ETV1 0 genome.wustl.edu 37 7 13971290 13971290 + Silent SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 13971290 13971290 G C SNP ETV1 ENST00000405218 human ensembl 74_37 -1 known silent c.639 p.R213 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 68 0 0 44 55 55.5556 BRAF 0 genome.wustl.edu 37 7 140500184 140500184 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 140500184 140500184 C T SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.958 p.A320T 0.993 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 102 1 0.970874 129 41 24.1176 EPHB6 0 genome.wustl.edu 37 7 142562074 142562074 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 142562074 142562074 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known silent c.516 p.S172 0.083 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 237 2 0.83682 282 128 31.2195 EPHA1 0 genome.wustl.edu 37 7 143095886 143095886 + Missense_Mutation SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 143095886 143095886 G C SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.1144 p.P382A 0.008 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 38 0 0 72 9 11.1111 OR2A5 0 genome.wustl.edu 37 7 143748348 143748348 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 143748348 143748348 T G SNP OR2A5 ENST00000408906 human ensembl 74_37 +1 known missense c.854 p.L285R 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A5 HGNC ENSG00000221836 130 0 0 102 91 47.1503 CNTNAP2 0 genome.wustl.edu 37 7 146997331 146997331 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 146997331 146997331 C A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.1447 p.R483 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 196 0 0 94 146 60.8333 ZNF282 0 genome.wustl.edu 37 7 148910865 148910865 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 148910865 148910865 G A SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known missense c.1139 p.R380H 0.275 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 53 0 0 71 13 15.4762 CHPF2 0 genome.wustl.edu 37 7 150932267 150932267 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 150932267 150932267 T C SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.397 p.Y133H 1.000 NULL pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 104 0 0 136 35 20.4678 INTS1 0 genome.wustl.edu 37 7 1538951 1538951 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 1538951 1538951 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.1274 p.T425M 0.996 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 105 0 0 191 22 10.3286 PAXIP1 0 genome.wustl.edu 37 7 154754138 154754138 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 154754138 154754138 C T SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.2020 p.A674T 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 75 0 0 45 60 57.1429 LMBR1 0 genome.wustl.edu 37 7 156554834 156554834 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 156554834 156554834 C A SNP LMBR1 ENST00000354505 human ensembl 74_37 -1 known missense c.678 p.K226N 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1 HGNC ENSG00000105983 70 0 0 44 71 61.7391 UBE3C 0 genome.wustl.edu 37 7 157049683 157049683 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 157049683 157049683 G A SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.3026 p.R1009H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 204 0 0 265 32 10.7744 DNAJB6 0 genome.wustl.edu 37 7 157177588 157177588 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 157177588 157177588 A G SNP DNAJB6 ENST00000262177 human ensembl 74_37 +1 known missense c.506 p.H169R 0.979 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB6 HGNC ENSG00000105993 307 0 0 333 93 21.831 STEAP1B 0 genome.wustl.edu 37 7 22533351 22533351 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 22533351 22533351 G A SNP STEAP1B ENST00000406890 human ensembl 74_37 -1 known silent c.132 p.H44 0.001 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC ENSG00000105889 188 0 0 242 88 26.6667 NUDT1 0 genome.wustl.edu 37 7 2290718 2290718 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 2290718 2290718 C T SNP NUDT1 ENST00000487426 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUDT1 HGNC ENSG00000106268 80 0 0 77 24 23.7624 CHST12 0 genome.wustl.edu 37 7 2472864 2472864 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 2472864 2472864 G A SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known missense c.590 p.R197H 0.209 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 71 0 0 65 30 31.5789 IQCE 0 genome.wustl.edu 37 7 2618149 2618149 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 2618149 2618149 G A SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.619 p.D207N 0.873 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 100 0 0 58 93 61.5894 HOXA7 0 genome.wustl.edu 37 7 27194723 27194723 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 27194723 27194723 C T SNP HOXA7 ENST00000242159 human ensembl 74_37 -1 known silent c.498 p.A166 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC ENSG00000122592 139 0 0 203 25 10.9649 ZNRF2 0 genome.wustl.edu 37 7 30363271 30363271 + Silent SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 30363271 30363271 T G SNP ZNRF2 ENST00000323037 human ensembl 74_37 +1 known silent c.483 p.P161 0.912 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF2 HGNC ENSG00000180233 243 0 0 310 80 20.5128 CRHR2 0 genome.wustl.edu 37 7 30721549 30721549 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 30721549 30721549 C T SNP CRHR2 ENST00000348438 human ensembl 74_37 -1 known missense c.292 p.V98I 0.399 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors CRHR2 HGNC ENSG00000106113 23 0 0 38 8 17.3913 KBTBD2 0 genome.wustl.edu 37 7 32909149 32909149 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 32909149 32909149 C T SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known silent c.1680 p.R560 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 223 0 0 259 88 25.3602 RP9 0 genome.wustl.edu 37 7 33139022 33139022 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 33139022 33139022 G A SNP RP9 ENST00000297157 human ensembl 74_37 -1 known silent c.210 p.C70 1.000 NULL NULL - no_errors RP9 HGNC ENSG00000164610 187 0 0 208 11 5.02283 HERPUD2 0 genome.wustl.edu 37 7 35673349 35673349 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 35673349 35673349 G A SNP HERPUD2 ENST00000311350 human ensembl 74_37 -1 known missense c.1172 p.T391I 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 167 0 0 197 75 27.5735 STARD3NL 0 genome.wustl.edu 37 7 38268436 38268436 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 38268436 38268436 A G SNP STARD3NL ENST00000009041 human ensembl 74_37 +1 known missense c.686 p.K229R 0.996 NULL pfam_MENTAL - no_errors STARD3NL HGNC ENSG00000010270 88 0 0 100 12 10.7143 SDK1 0 genome.wustl.edu 37 7 4198100 4198100 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 4198100 4198100 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4646 p.Y1549C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 34 0 0 50 21 29.5775 GLI3 0 genome.wustl.edu 37 7 42004864 42004864 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 42004864 42004864 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3807 p.D1269 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 81 0 0 110 39 26.1745 HECW1 0 genome.wustl.edu 37 7 43447289 43447289 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 43447289 43447289 A G SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.760 p.K254E 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 67 0 0 97 33 25.3846 WIPI2 0 genome.wustl.edu 37 7 5267771 5267771 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 5267771 5267771 C T SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known silent c.1050 p.A350 0.169 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 47 0 0 60 9 13.0435 TNRC18 0 genome.wustl.edu 37 7 5347923 5347923 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 5347923 5347923 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.8721 p.S2907 0.001 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 28 0 0 22 7 24.1379 TNRC18 0 genome.wustl.edu 37 7 5399108 5399108 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 5399108 5399108 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.4754 p.A1585V 0.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 346 1 0.288184 561 48 7.88177 EGFR 0 genome.wustl.edu 37 7 55229284 55229284 + Nonsense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 55229284 55229284 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known nonsense c.1591 p.R531* 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 189 0 0 202 81 28.6219 CRCP 0 genome.wustl.edu 37 7 65595732 65595732 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 65595732 65595732 T C SNP CRCP ENST00000395326 human ensembl 74_37 +1 known missense c.47 p.V16A 1.000 pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 112 0 0 148 36 19.5652 TYW1 0 genome.wustl.edu 37 7 66582482 66582482 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 66582482 66582482 G A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known silent c.1575 p.P525 0.883 pfam_rSAM pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 115 1 0.862069 155 18 10.4046 AUTS2 0 genome.wustl.edu 37 7 69064844 69064844 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 69064844 69064844 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.205 p.R69W 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 19 0 0 32 10 23.8095 WBSCR17 0 genome.wustl.edu 37 7 70597946 70597946 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 70597946 70597946 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.158 p.A53V 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 18 0 0 23 9 28.125 WBSCR28 0 genome.wustl.edu 37 7 73279593 73279593 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 73279593 73279593 A G SNP WBSCR28 ENST00000320531 human ensembl 74_37 +1 known missense c.343 p.S115G 0.001 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 62 0 0 84 13 13.4021 HGF 0 genome.wustl.edu 37 7 81372788 81372788 + Splice_Site SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 81372788 81372788 C T SNP HGF ENST00000222390 human ensembl 74_37 -1 known splice_site c.747-1 e7-1 1.000 - - - no_errors HGF HGNC ENSG00000019991 82 0 0 112 7 5.88235 PCLO 0 genome.wustl.edu 37 7 82785096 82785096 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 82785096 82785096 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.861 p.D287 0.044 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 89 0 0 110 32 22.5352 COL1A2 0 genome.wustl.edu 37 7 94040372 94040372 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 94040372 94040372 C A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.1256 p.P419H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 28 0 0 13 34 72.3404 CYP3A7 0 genome.wustl.edu 37 7 99313472 99313472 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 99313472 99313472 G A SNP CYP3A7 ENST00000336374 human ensembl 74_37 -1 known silent c.579 p.I193 0.001 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 231 1 0.431034 132 199 60.1208 GRHL2 0 genome.wustl.edu 37 8 102571013 102571013 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 102571013 102571013 C T SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known silent c.651 p.S217 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 31 0 0 61 17 21.7949 RRM2B 0 genome.wustl.edu 37 8 103237206 103237206 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 103237206 103237206 C T SNP RRM2B ENST00000251810 human ensembl 74_37 -1 known missense c.362 p.R121H 1.000 pfam_RNR_small,superfamily_Ferritin-like_SF pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2B HGNC ENSG00000048392 89 0 0 105 38 26.5734 AZIN1 0 genome.wustl.edu 37 8 103840907 103840907 + Splice_Site SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 103840907 103840907 C A SNP AZIN1 ENST00000337198 human ensembl 74_37 -1 known splice_site c.1236-1 e10-1 1.000 - - - no_errors AZIN1 HGNC ENSG00000155096 69 0 0 112 27 19.4245 SLC25A32 0 genome.wustl.edu 37 8 104415469 104415469 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 104415469 104415469 G A SNP SLC25A32 ENST00000297578 human ensembl 74_37 -1 known missense c.475 p.P159S 0.002 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 151 0 0 249 70 21.9436 RIMS2 0 genome.wustl.edu 37 8 105257232 105257232 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 105257232 105257232 G T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3423 p.Q1141H 0.982 NULL 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 102 0 0 206 38 15.5738 PKHD1L1 0 genome.wustl.edu 37 8 110510973 110510973 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 110510973 110510973 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.10801 p.A3601T 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 37 0 0 92 16 14.8148 COLEC10 0 genome.wustl.edu 37 8 120118226 120118226 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 120118226 120118226 C T SNP COLEC10 ENST00000332843 human ensembl 74_37 +1 known silent c.630 p.G210 0.999 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC10 HGNC ENSG00000184374 71 0 0 134 21 13.5484 SNTB1 0 genome.wustl.edu 37 8 121823609 121823609 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 121823609 121823609 C T SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known missense c.475 p.A159T 1.000 pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 77 0 0 131 7 5.07246 ZHX2 0 genome.wustl.edu 37 8 123964440 123964440 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 123964440 123964440 C T SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known silent c.690 p.G230 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 175 1 0.568182 238 66 21.7105 KIAA0196 0 genome.wustl.edu 37 8 126062904 126062904 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 126062904 126062904 C T SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.2101 p.D701N 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 80 0 0 141 24 14.5455 DLC1 0 genome.wustl.edu 37 8 12950293 12950293 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 12950293 12950293 T A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.3568 p.I1190F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 30 0 0 58 19 24.6753 DLC1 0 genome.wustl.edu 37 8 12957673 12957673 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 12957673 12957673 T C SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.2173 p.N725D 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 106 0 0 146 38 20.6522 ADCY8 0 genome.wustl.edu 37 8 132052107 132052107 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 132052107 132052107 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.473 p.R158H 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 63 0 0 88 14 13.7255 ZFAT 0 genome.wustl.edu 37 8 135649909 135649909 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 135649909 135649909 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known silent c.243 p.T81 0.535 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 191 1 0.520833 270 86 24.1573 KCNK9 0 genome.wustl.edu 37 8 140630506 140630506 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 140630506 140630506 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.1120 p.V374I 0.871 NULL pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 152 0 0 240 50 17.2414 KCNK9 0 genome.wustl.edu 37 8 140630715 140630715 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 140630715 140630715 G A SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.911 p.S304L 0.173 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 87 0 0 150 37 19.7861 PTK2 0 genome.wustl.edu 37 8 141799597 141799597 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 141799597 141799597 G A SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.1153 p.R385W 0.963 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 359 2 0.554017 599 166 21.6993 MROH6 0 genome.wustl.edu 37 8 144650000 144650000 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 144650000 144650000 C T SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known missense c.1823 p.R608Q 0.932 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 24 0 0 38 8 17.3913 TSTA3 0 genome.wustl.edu 37 8 144695756 144695756 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 144695756 144695756 C T SNP TSTA3 ENST00000425753 human ensembl 74_37 -1 known missense c.748 p.V250I 1.000 NULL pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 19 0 0 26 8 23.5294 TSTA3 0 genome.wustl.edu 37 8 144697076 144697076 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 144697076 144697076 C T SNP TSTA3 ENST00000425753 human ensembl 74_37 -1 known missense c.271 p.V91M 0.000 pfam_Epimerase_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 67 0 0 124 37 22.9814 NRBP2 0 genome.wustl.edu 37 8 144920885 144920885 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 144920885 144920885 G A SNP NRBP2 ENST00000327830 human ensembl 74_37 -1 known silent c.78 p.R26 0.330 NULL superfamily_Kinase-like_dom - no_errors NRBP2 HGNC ENSG00000185189 20 0 0 34 9 20.9302 PLEC 0 genome.wustl.edu 37 8 144992113 144992113 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 144992113 144992113 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.12287 p.R4096H 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 41 0 0 60 12 16.6667 PLEC 0 genome.wustl.edu 37 8 144997254 144997254 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 144997254 144997254 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.7254 p.A2418 0.249 superfamily_Chorismate_mutase_type_II pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 28 0 0 29 17 36.9565 PARP10 0 genome.wustl.edu 37 8 145052082 145052082 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 145052082 145052082 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.2724 p.G908 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 26 0 0 43 10 18.8679 ENSG00000204791 0 genome.wustl.edu 37 8 145106174 145106174 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 145106174 145106174 C T SNP ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 23 0 0 27 6 18.1818 MROH1 0 genome.wustl.edu 37 8 145235115 145235115 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 145235115 145235115 G A SNP MROH1 ENST00000326134 human ensembl 74_37 +1 known missense c.335 p.G112D 0.149 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors MROH1 HGNC ENSG00000179832 102 0 0 188 36 16.0714 TONSL 0 genome.wustl.edu 37 8 145660224 145660224 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 145660224 145660224 A G SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.3055 p.Y1019H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 41 0 0 69 16 18.8235 ZNF251 0 genome.wustl.edu 37 8 145948631 145948631 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 145948631 145948631 G A SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known silent c.414 p.G138 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 ZNF251 HGNC ENSG00000198169 94 0 0 159 34 17.6166 LPL 0 genome.wustl.edu 37 8 19816811 19816811 + Missense_Mutation SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 19816811 19816811 G C SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.1059 p.E353D 0.007 pirsf_Lipoprotein_lipase_LIPH,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 112 0 0 151 34 18.3784 MYOM2 0 genome.wustl.edu 37 8 2056577 2056577 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 2056577 2056577 A G SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2999 p.E1000G 1.000 pfscan_Ig-like_dom 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 MYOM2 HGNC ENSG00000036448 124 0 0 198 44 18.1818 EGR3 0 genome.wustl.edu 37 8 22550362 22550362 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 22550362 22550362 C T SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known silent c.96 p.A32 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 61 0 0 106 21 16.5354 SLC25A37 0 genome.wustl.edu 37 8 23429052 23429052 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 23429052 23429052 C A SNP SLC25A37 ENST00000519973 human ensembl 74_37 +1 known missense c.701 p.P234Q 0.998 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC ENSG00000147454 32 0 0 81 18 18.1818 CDCA2 0 genome.wustl.edu 37 8 25325861 25325861 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 25325861 25325861 G A SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known missense c.667 p.G223S 0.000 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 202 0 0 285 68 19.2635 DPYSL2 0 genome.wustl.edu 37 8 26481759 26481759 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 26481759 26481759 T C SNP DPYSL2 ENST00000311151 human ensembl 74_37 +1 known silent c.414 p.H138 0.996 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 108 0 0 206 57 21.673 EPHX2 0 genome.wustl.edu 37 8 27398071 27398071 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 27398071 27398071 G T SNP EPHX2 ENST00000521400 human ensembl 74_37 +1 known missense c.1277 p.G426V 0.876 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_HAD-SF_hydro_IA,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors EPHX2 HGNC ENSG00000120915 73 0 0 96 26 21.3115 CSMD1 0 genome.wustl.edu 37 8 2818731 2818731 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 2818731 2818731 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9637 p.A3213S 1.000 NULL 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 40 0 0 69 17 19.7674 CSMD1 0 genome.wustl.edu 37 8 2886894 2886894 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 2886894 2886894 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.7805 p.R2602Q 0.990 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_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 47 0 0 68 11 13.9241 TUBBP1 0 genome.wustl.edu 37 8 30210344 30210344 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 30210344 30210344 C T SNP TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 107 0 0 130 36 21.6867 UBXN8 0 genome.wustl.edu 37 8 30620808 30620808 + RNA SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 30620808 30620808 C T SNP UBXN8 ENST00000265616 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors UBXN8 HGNC ENSG00000104691 108 1 0.917431 176 30 14.5631 CSMD1 0 genome.wustl.edu 37 8 3855606 3855606 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 3855606 3855606 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.637 p.R213C 0.188 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 CSMD1 HGNC ENSG00000183117 19 0 0 18 5 21.7391 PLEKHA2 0 genome.wustl.edu 37 8 38775508 38775508 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 38775508 38775508 A G SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known missense c.61 p.N21D 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 58 0 0 68 16 19.0476 TM2D2 0 genome.wustl.edu 37 8 38851177 38851177 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 38851177 38851177 G A SNP TM2D2 ENST00000456397 human ensembl 74_37 -1 known silent c.318 p.F106 0.175 NULL pfam_TM2 - no_errors TM2D2 HGNC ENSG00000169490 49 0 0 94 27 22.314 ANK1 0 genome.wustl.edu 37 8 41753883 41753883 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 41753883 41753883 C T SNP ANK1 ENST00000265709 human ensembl 74_37 -1 known missense c.116 p.R39Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 23 0 0 39 11 22 CHRNB3 0 genome.wustl.edu 37 8 42587259 42587259 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 42587259 42587259 C T SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.809 p.S270L 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 271 1 0.367647 408 89 17.9074 NPBWR1 0 genome.wustl.edu 37 8 53852514 53852514 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 53852514 53852514 G A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.47 p.G16D 0.037 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 13 0 0 21 7 25 RP1 0 genome.wustl.edu 37 8 55533629 55533629 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 55533629 55533629 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.103 p.A35T 1.000 smart_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 220 1 0.452489 277 79 22.191 PLAG1 0 genome.wustl.edu 37 8 57080054 57080054 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 57080054 57080054 G T SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.251 p.A84D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 57 0 0 72 12 14.2857 ANGPT2 0 genome.wustl.edu 37 8 6420295 6420295 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 6420295 6420295 C T SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.161 p.R54H 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 80 0 0 129 30 18.8679 CSPP1 0 genome.wustl.edu 37 8 68062155 68062155 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 68062155 68062155 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.2098 p.A700T 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 221 0 0 470 75 13.7615 ARFGEF1 0 genome.wustl.edu 37 8 68172074 68172074 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 68172074 68172074 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known silent c.2211 p.L737 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 247 0 0 331 90 21.3777 NCOA2 0 genome.wustl.edu 37 8 71087086 71087086 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 71087086 71087086 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.268 p.A90T 1.000 superfamily_bHLH_dom,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 191 0 0 361 23 5.98958 ZFHX4 0 genome.wustl.edu 37 8 77616635 77616635 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 77616635 77616635 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.312 p.R104 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 266 0 0 372 98 20.8511 ZFHX4 0 genome.wustl.edu 37 8 77763270 77763270 + Silent SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 77763270 77763270 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.4113 p.P1371 0.000 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 71 0 0 82 22 21.1538 SGK223 0 genome.wustl.edu 37 8 8185961 8185961 + Silent SNP C C G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 8185961 8185961 C G SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.2331 p.L777 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 30 0 0 61 24 28.2353 SGK223 0 genome.wustl.edu 37 8 8234853 8234853 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 8234853 8234853 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.1066 p.V356I 0.011 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 13 0 0 29 11 27.5 KIAA1429 0 genome.wustl.edu 37 8 95547125 95547125 + Silent SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 95547125 95547125 T A SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known silent c.426 p.P142 0.996 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 53 0 0 109 11 9.16667 GDF6 0 genome.wustl.edu 37 8 97157104 97157104 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 97157104 97157104 A G SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.1055 p.L352P 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 20 0 0 52 8 13.3333 KCNS2 0 genome.wustl.edu 37 8 99441238 99441238 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 99441238 99441238 C A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.1031 p.S344Y 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 107 1 0.925926 151 50 24.8756 STK3 0 genome.wustl.edu 37 8 99468226 99468226 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 99468226 99468226 C T SNP STK3 ENST00000419617 human ensembl 74_37 -1 known silent c.1320 p.L440 0.996 pfam_Mst1_SARAH_domain,pfscan_SARAH_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 35 0 0 44 7 13.7255 NCBP1 0 genome.wustl.edu 37 9 100405604 100405604 + Missense_Mutation SNP T T A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 100405604 100405604 T A SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.343 p.S115T 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 263 0 0 159 105 39.7727 RGS3 0 genome.wustl.edu 37 9 116269742 116269742 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 116269742 116269742 C T SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.1261 p.R421C 1.000 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 26 0 0 28 4 12.5 TNC 0 genome.wustl.edu 37 9 117848975 117848975 + Silent SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 117848975 117848975 G T SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.1035 p.T345 1.000 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 74 0 0 47 37 44.0476 CNTRL 0 genome.wustl.edu 37 9 123898189 123898189 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 123898189 123898189 C T SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.2131 p.R711W 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 99 0 0 70 39 35.7798 RC3H2 0 genome.wustl.edu 37 9 125643021 125643021 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 125643021 125643021 C T SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.812 p.R271Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 143 0 0 84 41 32.8 WDR38 0 genome.wustl.edu 37 9 127616484 127616484 + Missense_Mutation SNP G G C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 127616484 127616484 G C SNP WDR38 ENST00000373574 human ensembl 74_37 +1 known missense c.70 p.V24L 1.000 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,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC ENSG00000136918 378 0 0 278 124 30.8458 LMX1B 0 genome.wustl.edu 37 9 129453292 129453292 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 129453292 129453292 C T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known silent c.504 p.D168 1.000 pfam_Znf_LIM,smart_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 LMX1B HGNC ENSG00000136944 28 0 0 20 9 31.0345 SLC25A25 0 genome.wustl.edu 37 9 130864731 130864731 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 130864731 130864731 G A SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known missense c.595 p.E199K 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 47 0 0 35 16 31.3725 SPTAN1 0 genome.wustl.edu 37 9 131356530 131356530 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 131356530 131356530 C T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.3292 p.R1098C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 143 0 0 142 10 6.57895 PKN3 0 genome.wustl.edu 37 9 131482711 131482711 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 131482711 131482711 G T SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.2496 p.Q832H 0.997 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 135 0 0 118 74 38.5417 GPR107 0 genome.wustl.edu 37 9 132863396 132863396 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 132863396 132863396 C T SNP GPR107 ENST00000372410 human ensembl 74_37 +1 known missense c.1025 p.A342V 1.000 pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt - no_errors GPR107 HGNC ENSG00000148358 326 1 0.30581 210 111 34.5794 FUBP3 0 genome.wustl.edu 37 9 133488372 133488372 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 133488372 133488372 C T SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known missense c.304 p.R102W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 92 0 0 57 33 36.6667 FIBCD1 0 genome.wustl.edu 37 9 133779540 133779540 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 133779540 133779540 C T SNP FIBCD1 ENST00000372338 human ensembl 74_37 -1 known missense c.1297 p.D433N 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 FIBCD1 HGNC ENSG00000130720 158 0 0 87 68 43.871 NUP214 0 genome.wustl.edu 37 9 134072678 134072678 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 134072678 134072678 A G SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.3800 p.E1267G 0.315 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 145 0 0 80 67 45.5782 PPAPDC3 0 genome.wustl.edu 37 9 134183576 134183576 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 134183576 134183576 G A SNP PPAPDC3 ENST00000372264 human ensembl 74_37 +1 known missense c.718 p.V240I 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC3 HGNC ENSG00000160539 39 0 0 26 14 35 PRRC2B 0 genome.wustl.edu 37 9 134346320 134346320 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 134346320 134346320 C T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.2057 p.T686M 0.307 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 32 0 0 28 4 12.5 POMT1 0 genome.wustl.edu 37 9 134385313 134385313 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 134385313 134385313 C T SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.629 p.T210M 0.999 pfam_Glyco_trans_39 pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 310 0 0 193 113 36.9281 NTNG2 0 genome.wustl.edu 37 9 135073809 135073809 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 135073809 135073809 G A SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.670 p.G224S 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 77 0 0 48 29 37.6623 DDX31 0 genome.wustl.edu 37 9 135487583 135487583 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 135487583 135487583 G A SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known missense c.2200 p.H734Y 1.000 NULL 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 DDX31 HGNC ENSG00000125485 124 1 0.8 135 9 6.25 RALGDS 0 genome.wustl.edu 37 9 135976954 135976954 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 135976954 135976954 G A SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.2620 p.R874C 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 137 0 0 160 9 5.32544 KCNT1 0 genome.wustl.edu 37 9 138642852 138642852 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 138642852 138642852 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.399 p.R133 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 79 0 0 53 51 49.0385 KCNT1 0 genome.wustl.edu 37 9 138670649 138670649 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 138670649 138670649 A G SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.2710 p.N904D 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 49 0 0 17 23 57.5 NOTCH1 0 genome.wustl.edu 37 9 139390651 139390651 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 139390651 139390651 G T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.7540 p.P2514T 1.000 pfam_DUF3454_notch,pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 16 0 0 10 7 41.1765 C9orf172 0 genome.wustl.edu 37 9 139739734 139739734 + Missense_Mutation SNP T T G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 139739734 139739734 T G SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known missense c.868 p.F290V 0.010 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 16 0 0 17 7 29.1667 ENTPD2 0 genome.wustl.edu 37 9 139946009 139946009 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 139946009 139946009 C T SNP ENTPD2 ENST00000355097 human ensembl 74_37 -1 known silent c.339 p.A113 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 51 0 0 35 24 40.678 DPP7 0 genome.wustl.edu 37 9 140005168 140005168 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 140005168 140005168 C T SNP DPP7 ENST00000371579 human ensembl 74_37 -1 known missense c.1411 p.E471K 0.001 NULL pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 38 0 0 18 26 59.0909 CBWD1 0 genome.wustl.edu 37 9 163985 163985 + Silent SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 163985 163985 A G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known silent c.483 p.Y161 0.999 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 193 1 0.515464 233 39 14.3382 FOCAD 0 genome.wustl.edu 37 9 20862680 20862680 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 20862680 20862680 C A SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.2024 p.P675H 1.000 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 249 1 0.4 133 96 41.9214 DOCK8 0 genome.wustl.edu 37 9 312043 312043 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 312043 312043 T C SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.618 p.P206 0.619 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 154 0 0 104 72 40.9091 SPAG8 0 genome.wustl.edu 37 9 35811534 35811534 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 35811534 35811534 C T SNP SPAG8 ENST00000340291 human ensembl 74_37 -1 known missense c.509 p.G170D 0.001 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 28 0 0 16 17 51.5152 FOXD4L5 0 genome.wustl.edu 37 9 70177694 70177694 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 70177694 70177694 G A SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.290 p.A97V 0.055 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 85 0 0 85 26 23.4234 APBA1 0 genome.wustl.edu 37 9 72047539 72047539 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 72047539 72047539 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known silent c.2355 p.G785 0.973 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 58 0 0 47 16 25.3968 DMRT1 0 genome.wustl.edu 37 9 841907 841907 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 841907 841907 G A SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known silent c.69 p.P23 0.951 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 8 0 0 12 10 45.4545 KIF27 0 genome.wustl.edu 37 9 86465140 86465140 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 86465140 86465140 G A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.3430 p.R1144W 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 222 0 0 123 101 45.0893 KIF27 0 genome.wustl.edu 37 9 86482717 86482717 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 86482717 86482717 C T SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.2816 p.R939H 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 217 0 0 130 85 39.5349 HNRNPK 0 genome.wustl.edu 37 9 86585818 86585818 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 86585818 86585818 C T SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known missense c.1102 p.G368R 0.998 NULL pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 142 0 0 138 19 12.1019 ASPN 0 genome.wustl.edu 37 9 95237178 95237178 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 95237178 95237178 A G SNP ASPN ENST00000375544 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 52 0 0 45 5 10 BICD2 0 genome.wustl.edu 37 9 95482892 95482892 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 95482892 95482892 C T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.752 p.R251H 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 93 0 0 66 40 37.7358 WNK2 0 genome.wustl.edu 37 9 96080171 96080171 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 96080171 96080171 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known silent c.6756 p.T2252 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 33 0 0 13 13 50 PTCH1 0 genome.wustl.edu 37 9 98229700 98229700 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 98229700 98229700 A G SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.2258 p.V753A 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 100 0 0 52 23 30.6667 IRS4 0 genome.wustl.edu 37 X 107978669 107978669 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 107978669 107978669 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.906 p.I302 0.994 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 137 0 0 27 117 81.25 IL13RA2 0 genome.wustl.edu 37 X 114239869 114239869 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 114239869 114239869 A G SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.1007 p.L336P 0.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 85 0 0 101 6 5.60748 RHOXF2 0 genome.wustl.edu 37 X 119293252 119293252 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 119293252 119293252 C T SNP RHOXF2 ENST00000371388 human ensembl 74_37 +1 known silent c.411 p.N137 0.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 23 0 0 14 14 50 GRIA3 0 genome.wustl.edu 37 X 122551612 122551612 + Silent SNP A A C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 122551612 122551612 A C SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known silent c.1860 p.G620 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 199 0 0 157 14 8.18713 FRMPD4 0 genome.wustl.edu 37 X 12728602 12728602 + Missense_Mutation SNP A A G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 12728602 12728602 A G SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.1555 p.R519G 1.000 pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 172 0 0 47 130 73.4463 SLC9A6 0 genome.wustl.edu 37 X 135080679 135080679 + Silent SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 135080679 135080679 C T SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known silent c.642 p.Y214 0.998 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 92 0 0 72 22 23.4043 MAP7D3 0 genome.wustl.edu 37 X 135314105 135314105 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 135314105 135314105 T C SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.957 p.S319 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 165 0 0 30 113 79.021 MAGEC1 0 genome.wustl.edu 37 X 140995606 140995606 + Missense_Mutation SNP G G T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 140995606 140995606 G T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.2416 p.A806S 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 245 1 0.406504 48 208 81.25 HCFC1 0 genome.wustl.edu 37 X 153215718 153215718 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 153215718 153215718 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.5980 p.A1994T 0.999 superfamily_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 48 0 0 15 46 75.4098 FIGF 0 genome.wustl.edu 37 X 15402024 15402024 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 15402024 15402024 G A SNP FIGF ENST00000297904 human ensembl 74_37 -1 known silent c.45 p.Y15 0.002 NULL pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors FIGF HGNC ENSG00000165197 92 0 0 25 58 69.8795 FUNDC2 0 genome.wustl.edu 37 X 154255299 154255299 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 154255299 154255299 G A SNP FUNDC2 ENST00000369498 human ensembl 74_37 +1 known missense c.86 p.R29H 0.005 NULL pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 9 0 0 3 3 50 AKAP17A 0 genome.wustl.edu 37 X 1712814 1712814 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 1712814 1712814 G A SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known silent c.459 p.G153 0.519 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 155 0 0 38 89 70.0787 ASMT 0 genome.wustl.edu 37 X 1748728 1748728 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 1748728 1748728 G A SNP ASMT ENST00000381241 human ensembl 74_37 +1 known missense c.458 p.R153Q 1.000 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 233 0 0 53 81 60.4478 NHS 0 genome.wustl.edu 37 X 17739629 17739629 + Silent SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 17739629 17739629 T C SNP NHS ENST00000380060 human ensembl 74_37 +1 known silent c.921 p.N307 0.998 NULL NULL - no_errors NHS HGNC ENSG00000188158 65 0 0 62 4 6.06061 GPR64 0 genome.wustl.edu 37 X 19013015 19013015 + Missense_Mutation SNP A A T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 19013015 19013015 A T SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.2868 p.N956K 0.998 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 172 0 0 32 135 80.8383 PLCXD1 0 genome.wustl.edu 37 X 209708 209708 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 209708 209708 C T SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known missense c.556 p.P186S 0.644 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD1 HGNC ENSG00000182378 50 0 0 10 12 54.5455 TAB3 0 genome.wustl.edu 37 X 30870901 30870901 + Silent SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 30870901 30870901 G A SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known silent c.1704 p.I568 0.997 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 67 0 0 58 15 20.5479 DUSP21 0 genome.wustl.edu 37 X 44703614 44703614 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 44703614 44703614 C T SNP DUSP21 ENST00000339042 human ensembl 74_37 +1 known missense c.236 p.S79L 0.114 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP21 HGNC ENSG00000189037 90 0 0 16 85 84.1584 KDM6A 0 genome.wustl.edu 37 X 44879953 44879953 + Missense_Mutation SNP C C T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 44879953 44879953 C T SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.542 p.T181I 1.000 pfscan_TPR-contain_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 217 0 0 169 41 19.5238 FOXP3 0 genome.wustl.edu 37 X 49110450 49110450 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 49110450 49110450 G A SNP FOXP3 ENST00000376207 human ensembl 74_37 -1 known missense c.895 p.R299W 0.027 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 16 0 0 12 5 29.4118 MSN 0 genome.wustl.edu 37 X 64959042 64959042 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 64959042 64959042 C A SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.1555 p.Q519K 1.000 pirsf_ERM,pfam_ERM_C_dom,superfamily_Moesin_tail pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 18 0 0 4 15 78.9474 P2RY4 0 genome.wustl.edu 37 X 69478799 69478799 + Missense_Mutation SNP G G A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 69478799 69478799 G A SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.676 p.R226C 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 18 0 0 12 9 42.8571 MED12 0 genome.wustl.edu 37 X 70340970 70340970 + Missense_Mutation SNP T T C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 70340970 70340970 T C SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.703 p.Y235H 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 67 0 0 24 58 70.7317 GPR174 0 genome.wustl.edu 37 X 78426931 78426931 + Missense_Mutation SNP C C A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 78426931 78426931 C A SNP GPR174 ENST00000276077 human ensembl 74_37 +1 known missense c.427 p.L143M 0.732 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR174 HGNC ENSG00000147138 170 1 0.584795 37 113 75.3333 SASS6 0 genome.wustl.edu 37 1 100584676 100584676 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 100584676 100584676 T - DEL SASS6 ENST00000287482 human ensembl 74_37 -1 known frame_shift_del c.567 p.K189fs 0.240 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 93 0 0 66 29 30.5263 SPAG17 0 genome.wustl.edu 37 1 118537093 118537093 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 118537093 118537093 T - DEL SPAG17 ENST00000336338 human ensembl 74_37 -1 known frame_shift_del c.5114 p.K1705fs 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 159 0 0 106 71 40.113 PDZK1 0 genome.wustl.edu 37 1 145762320 145762320 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 145762320 145762320 A - DEL PDZK1 ENST00000344770 human ensembl 74_37 +1 known frame_shift_del c.1497 p.E501fs 0.458 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC ENSG00000174827 97 0 0 64 34 34.6939 BCL9 0 genome.wustl.edu 37 1 147090982 147090982 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 147090982 147090982 C - DEL BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_del c.1021 p.T343fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 152 0 0 158 18 10.2273 GJA5 0 genome.wustl.edu 37 1 147230513 147230513 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 147230513 147230513 T - DEL GJA5 ENST00000271348 human ensembl 74_37 -1 known frame_shift_del c.834 p.K278fs 0.776 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 173 0 0 137 45 24.7253 SV2A 0 genome.wustl.edu 37 1 149884981 149884981 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 149884981 149884981 C - DEL SV2A ENST00000369146 human ensembl 74_37 -1 known frame_shift_del c.412 p.E138fs 0.998 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 84 0 0 64 31 32.6316 ADAMTSL4 0 genome.wustl.edu 37 1 150526845 150526846 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 150526845 150526846 - C INS ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_ins c.1136_1137 p.E382fs 1.000:1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 89 0 0 61 34 35.7895 POGZ 0 genome.wustl.edu 37 1 151380627 151380628 + Frame_Shift_Del DEL AG AG - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 151380627 151380628 AG - DEL POGZ ENST00000271715 human ensembl 74_37 -1 known frame_shift_del c.2324_2323 p.L775fs 1.000:1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 138 0 0 98 44 30.9859 LCE1C 0 genome.wustl.edu 37 1 152777650 152777650 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 152777650 152777650 C - DEL LCE1C ENST00000368768 human ensembl 74_37 -1 known frame_shift_del c.305 p.G102fs 0.940 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 97 0 0 88 13 12.8713 FAM189B 0 genome.wustl.edu 37 1 155220390 155220390 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 155220390 155220390 G - DEL FAM189B ENST00000361361 human ensembl 74_37 -1 known frame_shift_del c.1187 p.P396fs 0.997 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 13 0 0 5 9 64.2857 ISG20L2 0 genome.wustl.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 156694023 156694023 G - DEL ISG20L2 ENST00000313146 human ensembl 74_37 -1 known frame_shift_del c.865 p.L289fs 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 127 0 0 123 37 23.125 FCRL3 0 genome.wustl.edu 37 1 157666960 157666960 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 157666960 157666960 T - DEL FCRL3 ENST00000492769 human ensembl 74_37 -1 known frame_shift_del c.814 p.R272fs 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 105 0 0 90 56 38.3562 SPTA1 0 genome.wustl.edu 37 1 158653211 158653211 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 158653211 158653211 T - DEL SPTA1 ENST00000368147 human ensembl 74_37 -1 known frame_shift_del c.340 p.T114fs 0.869 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 280 0 0 269 34 11.2211 FCRLB 0 genome.wustl.edu 37 1 161697453 161697453 + RNA DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 161697453 161697453 G - DEL FCRLB ENST00000495397 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors FCRLB HGNC ENSG00000162746 40 0 0 29 11 27.5 GPR161 0 genome.wustl.edu 37 1 168054869 168054869 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 168054869 168054869 C - DEL GPR161 ENST00000537209 human ensembl 74_37 -1 known frame_shift_del c.1550 p.G517fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 150 0 0 162 33 16.9231 ANKRD36BP1 0 genome.wustl.edu 37 1 168215647 168215647 + RNA DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 168215647 168215647 T - DEL ANKRD36BP1 ENST00000358576 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors ANKRD36BP1 HGNC ENSG00000214262 11 0 0 3 4 57.1429 SLC9C2 0 genome.wustl.edu 37 1 173551149 173551150 + Splice_Site INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 173551149 173551150 - A INS SLC9C2 ENST00000367714 human ensembl 74_37 -1 known splice_site_ins c.641-3_641-2 e6-2 0.657:0.060 - - - no_errors SLC9C2 HGNC ENSG00000162753 69 0 0 51 11 17.7419 PADI3 0 genome.wustl.edu 37 1 17603075 17603075 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 17603075 17603075 C - DEL PADI3 ENST00000375460 human ensembl 74_37 +1 known frame_shift_del c.1369 p.V459fs 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 105 0 0 114 14 10.9375 PAPPA2 0 genome.wustl.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 176762724 176762724 C - DEL PAPPA2 ENST00000367662 human ensembl 74_37 +1 known frame_shift_del c.5049 p.S1686fs 0.506 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 103 0 0 77 44 36.3636 HMCN1 0 genome.wustl.edu 37 1 186083133 186083133 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 186083133 186083133 C - DEL HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_del c.11154 p.Q3720fs 0.991 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 382 0 0 328 159 32.6489 PLA2G4A 0 genome.wustl.edu 37 1 186862228 186862228 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 186862228 186862228 A - DEL PLA2G4A ENST00000367466 human ensembl 74_37 +1 known frame_shift_del c.201 p.N68fs 0.990 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 434 0 0 286 171 37.4179 DYRK3 0 genome.wustl.edu 37 1 206821441 206821441 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 206821441 206821441 A - DEL DYRK3 ENST00000367109 human ensembl 74_37 +1 known frame_shift_del c.898 p.N302fs 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 310 0 0 227 82 26.5372 TRIM17 0 genome.wustl.edu 37 1 228596778 228596779 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 228596778 228596779 - C INS TRIM17 ENST00000456946 human ensembl 74_37 -1 known frame_shift_ins c.978_977 p.S327fs 0.000:0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM17 HGNC ENSG00000162931 57 0 0 37 18 32.7273 ZNF124 0 genome.wustl.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 247319909 247319909 T - DEL ZNF124 ENST00000543802 human ensembl 74_37 -1 known frame_shift_del c.1015 p.T339fs 0.935 pfam_Znf_C2H2,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 ZNF124 HGNC ENSG00000196418 157 0 0 138 19 12.1019 SRRM1 0 genome.wustl.edu 37 1 24978984 24978984 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 24978984 24978984 A - DEL SRRM1 ENST00000447431 human ensembl 74_37 +1 known frame_shift_del c.785 p.N264fs 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 55 0 0 43 23 34.8485 MAN1C1 0 genome.wustl.edu 37 1 26104628 26104629 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 26104628 26104629 - G INS MAN1C1 ENST00000374332 human ensembl 74_37 +1 known frame_shift_ins c.1290_1291 p.L432fs 0.002:0.998 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 69 0 0 52 11 17.4603 ARID1A 0 genome.wustl.edu 37 1 27057936 27057937 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 27057936 27057937 - C INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.1644_1645 p.Y550fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 240 0 0 190 60 24 LCK 0 genome.wustl.edu 37 1 32745227 32745227 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 32745227 32745227 C - DEL LCK ENST00000333070 human ensembl 74_37 +1 known frame_shift_del c.1010 p.W339fs 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 219 0 0 126 87 40.8451 ZMYM6 0 genome.wustl.edu 37 1 35485090 35485090 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 35485090 35485090 T - DEL ZMYM6 ENST00000357182 human ensembl 74_37 -1 known frame_shift_del c.292 p.M98fs 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 132 0 0 123 60 32.7869 RLF 0 genome.wustl.edu 37 1 40704624 40704624 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 40704624 40704624 T - DEL RLF ENST00000372771 human ensembl 74_37 +1 known frame_shift_del c.4250 p.Y1419fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 157 0 0 142 21 12.8834 PLK3 0 genome.wustl.edu 37 1 45268997 45268997 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 45268997 45268997 C - DEL PLK3 ENST00000372201 human ensembl 74_37 +1 known frame_shift_del c.1006 p.N338fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 71 0 0 61 21 25.6098 EFCAB14 0 genome.wustl.edu 37 1 47152515 47152515 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 47152515 47152515 T - DEL EFCAB14 ENST00000371933 human ensembl 74_37 -1 known frame_shift_del c.1015 p.R339fs 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB14 HGNC ENSG00000159658 105 0 0 102 13 11.3043 CYP4X1 0 genome.wustl.edu 37 1 47489621 47489621 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 47489621 47489621 C - DEL CYP4X1 ENST00000371901 human ensembl 74_37 +1 known frame_shift_del c.132 p.F46fs 0.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 34 0 0 43 3 6.52174 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 72 0 0 59 26 30.5882 PTGFR 0 genome.wustl.edu 37 1 78958519 78958519 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 78958519 78958519 T - DEL PTGFR ENST00000370757 human ensembl 74_37 +1 known frame_shift_del c.91 p.S33fs 0.422 prints_PglndnF_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn - no_errors PTGFR HGNC ENSG00000122420 179 0 0 114 73 39.0374 PARK7 0 genome.wustl.edu 37 1 8025475 8025476 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 8025475 8025476 - A INS PARK7 ENST00000338639 human ensembl 74_37 +1 known frame_shift_ins c.182_183 p.E64fs 1.000:0.999 pfam_ThiJ/PfpI,tigrfam_DJ1 pfam_ThiJ/PfpI,tigrfam_DJ1 - no_errors PARK7 HGNC ENSG00000116288 118 0 0 116 38 24.6753 RERE 0 genome.wustl.edu 37 1 8420552 8420552 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 8420552 8420552 G - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.3015 p.L1007fs 0.873 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 9 0 0 11 6 35.2941 SH3GLB1 0 genome.wustl.edu 37 1 87188335 87188337 + In_Frame_Del DEL AGG AGG - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 1 87188335 87188337 AGG - DEL SH3GLB1 ENST00000482504 human ensembl 74_37 +1 known in_frame_del c.456_458 p.G153in_frame_del 1.000:1.000:1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 177 0 0 166 46 21.6981 NFKB2 0 genome.wustl.edu 37 10 104158163 104158163 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 104158163 104158163 C - DEL NFKB2 ENST00000369966 human ensembl 74_37 +1 known frame_shift_del c.874 p.Y294fs 1.000 superfamily_Ig_E-set,smart_IPT,prints_NF_Rel_Dor pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 168 0 0 180 67 27.1255 COL17A1 0 genome.wustl.edu 37 10 105819448 105819448 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 105819448 105819448 T - DEL COL17A1 ENST00000353479 human ensembl 74_37 -1 known frame_shift_del c.1170 p.E391fs 0.999 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 194 0 0 156 47 23.1527 SORCS3 0 genome.wustl.edu 37 10 106865213 106865213 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 106865213 106865213 T - DEL SORCS3 ENST00000369701 human ensembl 74_37 +1 known frame_shift_del c.1152 p.F385fs 0.963 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 142 0 0 111 52 31.9018 CASP7 0 genome.wustl.edu 37 10 115481532 115481532 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 115481532 115481532 A - DEL CASP7 ENST00000369321 human ensembl 74_37 +1 known frame_shift_del c.469 p.A159fs 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP7 HGNC ENSG00000165806 167 0 0 135 57 29.6875 CHST15 0 genome.wustl.edu 37 10 125805497 125805498 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 125805497 125805498 - C INS CHST15 ENST00000346248 human ensembl 74_37 -1 known frame_shift_ins c.232_231 p.K77fs 0.929:0.548 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 148 0 0 92 54 36.9863 OPTN 0 genome.wustl.edu 37 10 13151192 13151192 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 13151192 13151192 C - DEL OPTN ENST00000263036 human ensembl 74_37 +1 known frame_shift_del c.70 p.H26fs 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 122 0 0 118 51 30.1775 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 127 0 0 85 65 43.3333 101928757 0 genome.wustl.edu 37 10 17865318 17865318 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 17865318 17865318 A - DEL 101928757 ENST00000457317 human ensembl 74_37 +1 known frame_shift_del c.307 p.N104fs 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,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,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 488 0 0 411 62 13.1078 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 28 0 0 45 12 21.0526 C10orf25 0 genome.wustl.edu 37 10 45496243 45496243 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 45496243 45496243 G - DEL C10orf25 ENST00000298298 human ensembl 74_37 -1 known frame_shift_del c.65 p.P22fs 0.000 NULL NULL - no_errors C10orf25 HGNC ENSG00000165511 46 0 0 36 17 32.0755 ERCC6 0 genome.wustl.edu 37 10 50678501 50678501 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 50678501 50678501 A - DEL ERCC6 ENST00000355832 human ensembl 74_37 -1 known frame_shift_del c.3505 p.W1169fs 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 350 0 0 319 33 9.375 ANK3 0 genome.wustl.edu 37 10 61835708 61835708 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 61835708 61835708 G - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.4931 p.P1644fs 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 166 0 0 97 46 32.1678 ZNF365 0 genome.wustl.edu 37 10 64159513 64159513 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 64159513 64159513 A - DEL ZNF365 ENST00000395254 human ensembl 74_37 +1 known frame_shift_del c.1189 p.K399fs 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 57 0 0 45 3 6.25 TTC18 0 genome.wustl.edu 37 10 75113422 75113422 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 75113422 75113422 T - DEL TTC18 ENST00000310715 human ensembl 74_37 -1 known frame_shift_del c.142 p.I48fs 0.684 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 157 0 0 152 26 14.6067 ZMIZ1 0 genome.wustl.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 10 81072446 81072446 C - DEL ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known frame_shift_del c.3144 p.D1051fs 0.963 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 232 0 0 226 52 18.705 DCUN1D5 0 genome.wustl.edu 37 11 102953515 102953515 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 102953515 102953515 A - DEL DCUN1D5 ENST00000260247 human ensembl 74_37 -1 known frame_shift_del c.303 p.F101fs 1.000 NULL pfam_PONY_dom - no_errors DCUN1D5 HGNC ENSG00000137692 148 0 0 135 43 24.1573 CASP5 0 genome.wustl.edu 37 11 104874011 104874011 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 104874011 104874011 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.572 p.N191fs 0.006 pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 268 0 0 176 82 31.7829 DDX10 0 genome.wustl.edu 37 11 108712180 108712180 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 108712180 108712180 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.2224 p.I744fs 0.999 NULL 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 DDX10 HGNC ENSG00000178105 83 0 0 56 26 31.7073 LAYN 0 genome.wustl.edu 37 11 111425991 111425991 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 111425991 111425991 A - DEL LAYN ENST00000375615 human ensembl 74_37 +1 known frame_shift_del c.658 p.T222fs 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 96 0 0 53 29 35.3659 CEP164 0 genome.wustl.edu 37 11 117280511 117280511 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 117280511 117280511 C - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_del c.3926 p.T1311fs 0.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 167 0 0 177 62 25.9414 BCL9L 0 genome.wustl.edu 37 11 118779296 118779296 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 118779296 118779296 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.95 p.P32fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 82 0 0 75 9 10.7143 TECTA 0 genome.wustl.edu 37 11 121036077 121036077 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 121036077 121036077 C - DEL TECTA ENST00000264037 human ensembl 74_37 +1 known frame_shift_del c.5368 p.Y1792fs 0.994 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 18 0 0 8 3 27.2727 UBASH3B 0 genome.wustl.edu 37 11 122526825 122526825 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 122526825 122526825 C - DEL UBASH3B ENST00000284273 human ensembl 74_37 +1 known frame_shift_del c.68 p.R25fs 1.000 superfamily_UBA-like pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 9 0 0 5 4 44.4444 KRTAP5-5 0 genome.wustl.edu 37 11 1651497 1651497 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 1651497 1651497 G - DEL KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known frame_shift_del c.427 p.S145fs 0.965 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 53 0 0 44 26 37.1429 PLEKHA7 0 genome.wustl.edu 37 11 16816067 16816067 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 16816067 16816067 G - DEL PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known frame_shift_del c.2713 p.L905fs 0.313 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 209 0 0 159 52 24.6445 PIK3C2A 0 genome.wustl.edu 37 11 17190949 17190949 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 17190949 17190949 T - DEL PIK3C2A ENST00000265970 human ensembl 74_37 -1 known frame_shift_del c.340 p.T114fs 0.984 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 343 0 0 192 131 40.5573 SPTY2D1 0 genome.wustl.edu 37 11 18636367 18636367 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 18636367 18636367 G - DEL SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_del c.1454 p.P485fs 0.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 63 0 0 49 18 26.8657 MUC15 0 genome.wustl.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 26587427 26587427 T - DEL MUC15 ENST00000436318 human ensembl 74_37 -1 known frame_shift_del c.60 p.K20fs 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 119 0 0 45 70 60.8696 OR4C3 0 genome.wustl.edu 37 11 48346882 48346882 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 48346882 48346882 T - DEL OR4C3 ENST00000319856 human ensembl 74_37 +1 known frame_shift_del c.390 p.L132fs 0.999 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 OR4C3 HGNC ENSG00000176547 807 0 0 678 89 11.6037 OR52A5 0 genome.wustl.edu 37 11 5153679 5153679 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 5153679 5153679 A - DEL OR52A5 ENST00000307388 human ensembl 74_37 -1 known frame_shift_del c.194 p.L65fs 0.870 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 165 0 0 85 32 27.3504 OR5D18 0 genome.wustl.edu 37 11 55587636 55587638 + In_Frame_Del DEL CTT CTT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 55587636 55587638 CTT - DEL OR5D18 ENST00000333976 human ensembl 74_37 +1 known in_frame_del c.531_533 p.F179in_frame_del 0.020:0.039:0.172 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 OR5D18 HGNC ENSG00000186119 391 0 0 287 114 28.4289 OR8I2 0 genome.wustl.edu 37 11 55861672 55861672 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 55861672 55861672 A - DEL OR8I2 ENST00000302124 human ensembl 74_37 +1 known frame_shift_del c.889 p.N298fs 0.826 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 109 0 0 71 35 33.0189 TRIM5 0 genome.wustl.edu 37 11 5701141 5701141 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 5701141 5701141 C - DEL TRIM5 ENST00000305836 human ensembl 74_37 -1 known frame_shift_del c.267 p.Q90fs 0.000 smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 189 0 0 137 58 29.7436 SLC22A6 0 genome.wustl.edu 37 11 62752081 62752081 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 62752081 62752081 G - DEL SLC22A6 ENST00000377871 human ensembl 74_37 -1 known frame_shift_del c.82 p.L28fs 0.001 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 25 0 0 21 7 25 RTN3 0 genome.wustl.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 63525788 63525788 T - DEL RTN3 ENST00000354497 human ensembl 74_37 +1 putative frame_shift_del c.570 p.L193fs 0.998 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 106 0 0 88 41 31.7829 RCOR2 0 genome.wustl.edu 37 11 63680346 63680346 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 63680346 63680346 G - DEL RCOR2 ENST00000301459 human ensembl 74_37 -1 known frame_shift_del c.965 p.P322fs 0.991 superfamily_Homeodomain-like pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 53 0 0 44 6 12 MALAT1 0 genome.wustl.edu 37 11 65268925 65268925 + RNA DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 65268925 65268925 C - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MALAT1 HGNC ENSG00000251562 42 0 0 20 10 33.3333 LTBP3 0 genome.wustl.edu 37 11 65315174 65315174 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 65315174 65315174 C - DEL LTBP3 ENST00000301873 human ensembl 74_37 -1 known frame_shift_del c.1965 p.R656fs 0.656 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 17 0 0 9 5 35.7143 MAP3K11 0 genome.wustl.edu 37 11 65365835 65365835 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 65365835 65365835 C - DEL MAP3K11 ENST00000309100 human ensembl 74_37 -1 known frame_shift_del c.2471 p.G824fs 0.196 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 35 0 0 19 10 34.4828 SF3B2 0 genome.wustl.edu 37 11 65822610 65822610 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 65822610 65822610 C - DEL SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_del c.322 p.P109fs 0.878 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 67 0 0 73 16 17.9775 DCHS1 0 genome.wustl.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 6662142 6662142 G - DEL DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_del c.703 p.R235fs 0.606 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 225 0 0 188 59 23.8866 NUMA1 0 genome.wustl.edu 37 11 71716312 71716313 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 71716312 71716313 - G INS NUMA1 ENST00000393695 human ensembl 74_37 -1 known frame_shift_ins c.5796_5795 p.H1933fs 0.369:0.994 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 90 0 0 40 34 45.9459 NRIP3 0 genome.wustl.edu 37 11 9005478 9005478 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 9005478 9005478 C - DEL NRIP3 ENST00000309166 human ensembl 74_37 -1 known frame_shift_del c.654 p.K219fs 1.000 NULL pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP3 HGNC ENSG00000175352 244 0 0 147 82 35.8079 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 92 0 0 56 38 40.4255 SNORA40 0 genome.wustl.edu 37 11 93468345 93468345 + RNA DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 11 93468345 93468345 T - DEL SNORA40 ENST00000388090 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors SNORA40 HGNC ENSG00000210825 138 0 0 89 39 30.4688 KIAA1033 0 genome.wustl.edu 37 12 105553918 105553918 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 105553918 105553918 C - DEL KIAA1033 ENST00000332180 human ensembl 74_37 +1 known frame_shift_del c.3052 p.P1019fs 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 279 0 0 190 96 33.5664 ASCL4 0 genome.wustl.edu 37 12 108169097 108169097 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 108169097 108169097 C - DEL ASCL4 ENST00000342331 human ensembl 74_37 +1 known frame_shift_del c.105 p.L37fs 0.003 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL4 HGNC ENSG00000187855 62 0 0 49 21 30 ALDH2 0 genome.wustl.edu 37 12 112229927 112229927 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 112229927 112229927 G - DEL ALDH2 ENST00000261733 human ensembl 74_37 +1 known frame_shift_del c.858 p.K289fs 0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 107 0 0 85 22 20.5607 TPCN1 0 genome.wustl.edu 37 12 113698206 113698206 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 113698206 113698206 C - DEL TPCN1 ENST00000541517 human ensembl 74_37 +1 known frame_shift_del c.362 p.S123fs 0.003 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 85 0 0 71 18 20.2247 CCDC62 0 genome.wustl.edu 37 12 123307941 123307941 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 123307941 123307941 A - DEL CCDC62 ENST00000253079 human ensembl 74_37 +1 known frame_shift_del c.2030 p.N679fs 0.001 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 256 0 0 239 92 27.7946 NCOR2 0 genome.wustl.edu 37 12 124839388 124839388 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 124839388 124839388 T - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.3500 p.K1167fs 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 43 0 0 52 10 16.129 ATF7IP 0 genome.wustl.edu 37 12 14650647 14650648 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 14650647 14650648 - C INS ATF7IP ENST00000261168 human ensembl 74_37 +1 known frame_shift_ins c.3453_3454 p.E1153fs 1.000:1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 78 0 0 47 15 24.1935 ALG10 0 genome.wustl.edu 37 12 34179326 34179326 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 34179326 34179326 T - DEL ALG10 ENST00000266483 human ensembl 74_37 +1 known frame_shift_del c.898 p.S302fs 0.975 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 431 0 0 318 119 27.2311 TUBA1A 0 genome.wustl.edu 37 12 49580268 49580268 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 49580268 49580268 G - DEL TUBA1A ENST00000546918 human ensembl 74_37 -1 putative frame_shift_del c.352 p.L118fs 0.061 NULL pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_tubulin - no_errors TUBA1A HGNC ENSG00000167552 107 0 0 51 34 40 OR6C74 0 genome.wustl.edu 37 12 55641767 55641767 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 55641767 55641767 A - DEL OR6C74 ENST00000343870 human ensembl 74_37 +1 known frame_shift_del c.696 p.A235fs 0.003 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 OR6C74 HGNC ENSG00000197706 227 0 0 113 74 39.5722 LTBR 0 genome.wustl.edu 37 12 6497628 6497630 + In_Frame_Del DEL CTC CTC - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 6497628 6497630 CTC - DEL LTBR ENST00000228918 human ensembl 74_37 +1 known in_frame_del c.732_734 p.S245in_frame_del 0.004:0.796:0.941 pirsf_TNFR_3_LTBR,prints_TNFR_3_LTBR pirsf_TNFR_3_LTBR,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LTBR HGNC ENSG00000111321 98 0 0 78 16 17.0213 LYZ 0 genome.wustl.edu 37 12 69744010 69744010 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 69744010 69744010 A - DEL LYZ ENST00000261267 human ensembl 74_37 +1 known frame_shift_del c.259 p.T88fs 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys,prints_Glyco_hydro_22 - no_errors LYZ HGNC ENSG00000090382 211 0 0 159 49 23.5577 ENSG00000238823 0 genome.wustl.edu 37 12 73227 73227 + RNA DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 73227 73227 T - DEL ENSG00000238823 ENST00000458783 human ensembl 74_37 -1 novel rna NULL NULL 0.004 - - - no_errors AC215219.1 Clone_based_ensembl_gene ENSG00000238823 186 0 0 118 28 19.1781 KRR1 0 genome.wustl.edu 37 12 75893593 75893593 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 75893593 75893593 T - DEL KRR1 ENST00000229214 human ensembl 74_37 -1 known frame_shift_del c.1142 p.K381fs 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 126 0 0 102 56 35.443 PPFIA2 0 genome.wustl.edu 37 12 81839361 81839364 + Frame_Shift_Del DEL CAAA CAAA - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 81839361 81839364 CAAA - DEL PPFIA2 ENST00000549396 human ensembl 74_37 -1 known frame_shift_del c.544_541 p.F181fs 1.000:1.000:1.000:1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 128 0 0 104 47 31.1258 LRRIQ1 0 genome.wustl.edu 37 12 85638604 85638604 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 12 85638604 85638604 T - DEL LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_del c.5054 p.S1687fs 1.000 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 136 0 0 128 39 23.3533 TPP2 0 genome.wustl.edu 37 13 103317270 103317270 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 103317270 103317270 A - DEL TPP2 ENST00000376065 human ensembl 74_37 +1 known frame_shift_del c.3327 p.N1111fs 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 150 0 0 120 35 22.5806 LIG4 0 genome.wustl.edu 37 13 108863110 108863111 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 108863110 108863111 - T INS LIG4 ENST00000356922 human ensembl 74_37 -1 known frame_shift_ins c.507_506 p.S170fs 1.000:1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 317 0 0 223 78 25.9136 GAS6 0 genome.wustl.edu 37 13 114542718 114542718 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 114542718 114542718 C - DEL GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_del c.449 p.G150fs 0.997 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 136 0 0 137 8 5.51724 TPTE2 0 genome.wustl.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 20041394 20041394 A - DEL TPTE2 ENST00000382977 human ensembl 74_37 -1 known frame_shift_del c.483 p.F161fs 0.027 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 118 0 0 86 29 25.2174 PSPC1 0 genome.wustl.edu 37 13 20277356 20277357 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 20277356 20277357 - T INS PSPC1 ENST00000338910 human ensembl 74_37 -1 known frame_shift_ins c.1531_1530 p.G510fs 1.000:1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 142 0 0 141 25 15.0602 MTUS2 0 genome.wustl.edu 37 13 29599620 29599621 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 29599620 29599621 - G INS MTUS2 ENST00000431530 human ensembl 74_37 +1 known frame_shift_ins c.815_816 p.A274fs 0.001:0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 40 0 0 26 7 21.2121 B3GALTL 0 genome.wustl.edu 37 13 31803392 31803392 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 31803392 31803392 A - DEL B3GALTL ENST00000343307 human ensembl 74_37 +1 known frame_shift_del c.231 p.S80fs 0.240 NULL pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 96 0 0 60 17 22.0779 TPTE2P2 0 genome.wustl.edu 37 13 52796726 52796726 + RNA DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 52796726 52796726 C - DEL TPTE2P2 ENST00000606973 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors TPTE2P2 HGNC ENSG00000272281 132 0 0 124 9 6.76692 SUGT1 0 genome.wustl.edu 37 13 53254127 53254129 + In_Frame_Del DEL CAT CAT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 53254127 53254129 CAT - DEL SUGT1 ENST00000343788 human ensembl 74_37 +1 known in_frame_del c.833_835 p.S281in_frame_del 1.000:1.000:1.000 superfamily_HSP20-like_chaperone,pfscan_SGS pfam_SGS,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SUGT1 HGNC ENSG00000165416 160 0 0 108 51 32.0755 KLHL1 0 genome.wustl.edu 37 13 70681728 70681728 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 70681728 70681728 C - DEL KLHL1 ENST00000377844 human ensembl 74_37 -1 known frame_shift_del c.104 p.G35fs 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 45 0 0 54 6 10 MYCBP2 0 genome.wustl.edu 37 13 77725048 77725048 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 77725048 77725048 T - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.6952 p.M2318fs 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 243 0 0 153 64 29.4931 SLAIN1 0 genome.wustl.edu 37 13 78320722 78320722 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 78320722 78320722 A - DEL SLAIN1 ENST00000466548 human ensembl 74_37 +1 known frame_shift_del c.924 p.312fs 0.940 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 170 0 0 126 65 34.0314 UGGT2 0 genome.wustl.edu 37 13 96589179 96589179 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 13 96589179 96589179 A - DEL UGGT2 ENST00000376747 human ensembl 74_37 -1 known frame_shift_del c.1976 p.L659fs 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 123 0 0 58 36 38.2979 DYNC1H1 0 genome.wustl.edu 37 14 102472436 102472436 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 102472436 102472436 C - DEL DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_del c.5645 p.L1884fs 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 249 0 0 164 83 33.6032 AHNAK2 0 genome.wustl.edu 37 14 105406621 105406621 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 105406621 105406621 C - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.15167 p.G5056fs 0.013 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 232 0 0 139 51 26.8421 AHNAK2 0 genome.wustl.edu 37 14 105419812 105419812 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 105419812 105419812 T - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.1976 p.K659fs 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 524 0 0 340 202 37.2694 PACS2 0 genome.wustl.edu 37 14 105818792 105818794 + In_Frame_Del DEL CTT CTT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 105818792 105818794 CTT - DEL PACS2 ENST00000458164 human ensembl 74_37 +1 known in_frame_del c.285_287 p.F96in_frame_del 0.997:1.000:1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 166 0 0 132 39 22.807 PARP2 0 genome.wustl.edu 37 14 20824816 20824817 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 20824816 20824817 - C INS PARP2 ENST00000250416 human ensembl 74_37 +1 known frame_shift_ins c.1336_1337 p.P448fs 1.000:1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 273 0 0 242 108 30.8571 TGM1 0 genome.wustl.edu 37 14 24729846 24729847 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 24729846 24729847 - C INS TGM1 ENST00000206765 human ensembl 74_37 -1 known frame_shift_ins c.567_566 p.S190fs 1.000:1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 129 0 0 144 20 12.1951 CBLN3 0 genome.wustl.edu 37 14 24898055 24898055 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 24898055 24898055 G - DEL CBLN3 ENST00000267406 human ensembl 74_37 -1 known frame_shift_del c.206 p.P69fs 0.868 smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN3 HGNC ENSG00000139899 34 0 0 21 10 32.2581 PSMA3 0 genome.wustl.edu 37 14 58718839 58718839 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 58718839 58718839 C - DEL PSMA3 ENST00000216455 human ensembl 74_37 +1 known frame_shift_del c.107 p.T36fs 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 242 0 0 186 76 29.0076 RTN1 0 genome.wustl.edu 37 14 60072086 60072086 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 60072086 60072086 T - DEL RTN1 ENST00000267484 human ensembl 74_37 -1 known frame_shift_del c.2112 p.K704fs 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 137 0 0 97 58 37.4194 SLC39A9 0 genome.wustl.edu 37 14 69890833 69890833 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 69890833 69890833 T - DEL SLC39A9 ENST00000555840 human ensembl 74_37 +1 known frame_shift_del c.119 p.L41fs 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A9 HGNC ENSG00000029364 90 0 0 70 31 30.6931 NUMB 0 genome.wustl.edu 37 14 73789849 73789849 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 73789849 73789849 T - DEL NUMB ENST00000355058 human ensembl 74_37 -1 known frame_shift_del c.190 p.R64fs 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 137 0 0 85 49 36.5672 NRDE2 0 genome.wustl.edu 37 14 90783061 90783061 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 90783061 90783061 T - DEL NRDE2 ENST00000354366 human ensembl 74_37 -1 known frame_shift_del c.268 p.R90fs 0.997 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 271 0 0 216 39 15.2941 BTBD7 0 genome.wustl.edu 37 14 93760502 93760502 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 14 93760502 93760502 A - DEL BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_del c.864 p.R289fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 148 0 0 79 50 38.7597 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 202 0 0 138 62 31 GABRB3 0 genome.wustl.edu 37 15 26828515 26828515 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 26828515 26828515 G - DEL GABRB3 ENST00000299267 human ensembl 74_37 -1 known frame_shift_del c.508 p.L170fs 0.011 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 113 0 0 97 24 19.8347 KATNBL1 0 genome.wustl.edu 37 15 34445168 34445168 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 34445168 34445168 T - DEL KATNBL1 ENST00000256544 human ensembl 74_37 -1 known frame_shift_del c.261 p.K87fs 0.999 NULL NULL - no_errors KATNBL1 HGNC ENSG00000134152 333 0 0 283 117 29.25 RTF1 0 genome.wustl.edu 37 15 41770764 41770764 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 41770764 41770764 A - DEL RTF1 ENST00000389629 human ensembl 74_37 +1 known frame_shift_del c.1759 p.N588fs 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 329 0 0 249 116 31.7808 ADAL 0 genome.wustl.edu 37 15 43641115 43641115 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 43641115 43641115 A - DEL ADAL ENST00000422466 human ensembl 74_37 +1 known frame_shift_del c.644 p.E218fs 0.853 pfam_A/AMP_deaminase_dom pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ENSG00000168803 135 0 0 126 23 15.4362 MAP1A 0 genome.wustl.edu 37 15 43819801 43819801 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 43819801 43819801 C - DEL MAP1A ENST00000399453 human ensembl 74_37 +1 known frame_shift_del c.6130 p.P2045fs 0.327 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 115 0 0 77 27 25.9615 SEMA6D 0 genome.wustl.edu 37 15 48054512 48054512 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 48054512 48054512 A - DEL SEMA6D ENST00000316364 human ensembl 74_37 +1 known frame_shift_del c.654 p.E220fs 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 112 0 0 85 15 15 FBN1 0 genome.wustl.edu 37 15 48797223 48797224 + Frame_Shift_Ins INS - - AC TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 48797223 48797224 - AC INS FBN1 ENST00000316623 human ensembl 74_37 -1 known frame_shift_ins c.1959_1958 p.D654fs 0.722:0.998 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 147 0 0 96 54 36 WDR72 0 genome.wustl.edu 37 15 54025295 54025295 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 54025295 54025295 G - DEL WDR72 ENST00000360509 human ensembl 74_37 -1 known frame_shift_del c.52 p.H18fs 0.991 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_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 WDR72 HGNC ENSG00000166415 184 0 0 194 23 10.5991 IGDCC3 0 genome.wustl.edu 37 15 65621335 65621335 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 65621335 65621335 G - DEL IGDCC3 ENST00000327987 human ensembl 74_37 -1 known frame_shift_del c.2357 p.P786fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 24 0 0 18 3 14.2857 NEIL1 0 genome.wustl.edu 37 15 75641567 75641567 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 75641567 75641567 C - DEL NEIL1 ENST00000355059 human ensembl 74_37 +1 known frame_shift_del c.321 p.R109fs 0.001 pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 42 0 0 52 7 11.8644 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 167 0 0 162 24 12.9032 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 110 0 0 91 39 30 CACNA1H 0 genome.wustl.edu 37 16 1270495 1270496 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 1270495 1270496 - C INS CACNA1H ENST00000348261 human ensembl 74_37 +1 known frame_shift_ins c.6563_6564 p.C2191fs 1.000:0.999 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 32 0 0 31 6 16.2162 C16orf91 0 genome.wustl.edu 37 16 1476183 1476183 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 1476183 1476183 G - DEL C16orf91 ENST00000310355 human ensembl 74_37 -1 known frame_shift_del c.440 p.P147fs 0.018 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 131 0 0 132 14 9.58904 IGFALS 0 genome.wustl.edu 37 16 1842147 1842147 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 1842147 1842147 G - DEL IGFALS ENST00000415638 human ensembl 74_37 -1 known frame_shift_del c.386 p.P129fs 0.560 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 12 0 0 11 7 38.8889 ENSG00000252798 0 genome.wustl.edu 37 16 21599051 21599052 + RNA INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 21599051 21599052 - T INS ENSG00000252798 ENST00000516989 human ensembl 74_37 +1 novel rna NULL NULL 0.008:0.011 - - - no_errors SCARNA6 RFAM ENSG00000252798 11 0 0 6 4 40 FAM57B 0 genome.wustl.edu 37 16 30041821 30041821 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 30041821 30041821 C - DEL FAM57B ENST00000380495 human ensembl 74_37 -1 known frame_shift_del c.28 p.V10fs 1.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57B HGNC ENSG00000149926 21 0 0 18 3 14.2857 RNF40 0 genome.wustl.edu 37 16 30779458 30779458 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 30779458 30779458 C - DEL RNF40 ENST00000324685 human ensembl 74_37 +1 known frame_shift_del c.1586 p.N531fs 0.996 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 225 0 0 157 47 23.0392 FBXL19 0 genome.wustl.edu 37 16 30941646 30941646 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 30941646 30941646 G - DEL FBXL19 ENST00000380310 human ensembl 74_37 +1 known frame_shift_del c.1102 p.R370fs 0.999 NULL pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC ENSG00000099364 14 0 0 12 6 33.3333 ZNF646 0 genome.wustl.edu 37 16 31089231 31089231 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 31089231 31089231 C - DEL ZNF646 ENST00000300850 human ensembl 74_37 +1 known frame_shift_del c.1586 p.S531fs 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 33 0 0 30 11 26.8293 ZNF213 0 genome.wustl.edu 37 16 3188482 3188482 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 3188482 3188482 C - DEL ZNF213 ENST00000396878 human ensembl 74_37 +1 known frame_shift_del c.463 p.P156fs 0.051 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 56 0 0 54 6 10 TMEM8A 0 genome.wustl.edu 37 16 426284 426285 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 426284 426285 - C INS TMEM8A ENST00000431232 human ensembl 74_37 -1 known frame_shift_ins c.1076_1075 p.E359fs 1.000:0.998 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 82 0 0 55 36 39.5604 MMP2 0 genome.wustl.edu 37 16 55527106 55527106 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 55527106 55527106 C - DEL MMP2 ENST00000219070 human ensembl 74_37 +1 known frame_shift_del c.1373 p.T460fs 0.987 NULL pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 173 0 0 101 80 44.1989 NUDT21 0 genome.wustl.edu 37 16 56485066 56485066 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 56485066 56485066 C - DEL NUDT21 ENST00000300291 human ensembl 74_37 -1 known frame_shift_del c.49 p.V17fs 1.000 pirsf_Cleav_polyA_spec_factor_su5 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 - no_errors NUDT21 HGNC ENSG00000167005 88 0 0 77 6 7.22892 B3GNT9 0 genome.wustl.edu 37 16 67183783 67183783 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 67183783 67183783 A - DEL B3GNT9 ENST00000449549 human ensembl 74_37 -1 known frame_shift_del c.606 p.F202fs 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 23 0 0 19 8 29.6296 AP1G1 0 genome.wustl.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 71803440 71803440 A - DEL AP1G1 ENST00000423132 human ensembl 74_37 -1 known splice_site_del c.643-1 e6-1 0.996 - - - no_errors AP1G1 HGNC ENSG00000166747 75 0 0 51 34 40 ZFHX3 0 genome.wustl.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 72830903 72830904 CT - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.5678_5677 p.R1893fs 0.999:0.991 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 ZFHX3 HGNC ENSG00000140836 116 0 0 130 7 5.10949 CCDC78 0 genome.wustl.edu 37 16 774189 774189 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 774189 774189 G - DEL CCDC78 ENST00000293889 human ensembl 74_37 -1 known frame_shift_del c.970 p.Q324fs 0.000 NULL NULL - no_errors CCDC78 HGNC ENSG00000162004 99 0 0 74 37 33.3333 PKD1L2 0 genome.wustl.edu 37 16 81134589 81134589 + RNA DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 81134589 81134589 T - DEL PKD1L2 ENST00000534142 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors PKD1L2 HGNC ENSG00000166473 9 0 0 4 7 63.6364 KCNG4 0 genome.wustl.edu 37 16 84270891 84270892 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 84270891 84270892 - C INS KCNG4 ENST00000308251 human ensembl 74_37 -1 known frame_shift_ins c.201_200 p.R68fs 0.750:1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 109 0 0 76 35 31.5315 ZCCHC14 0 genome.wustl.edu 37 16 87445883 87445883 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 87445883 87445883 G - DEL ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known frame_shift_del c.2033 p.T678fs 1.000 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 201 0 0 125 62 33.1551 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 16 0 0 42 6 12.5 DNAH9 0 genome.wustl.edu 37 17 11775064 11775064 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 11775064 11775064 C - DEL DNAH9 ENST00000262442 human ensembl 74_37 +1 known frame_shift_del c.10203 p.L3402fs 0.995 superfamily_P-loop_NTPase 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 178 0 0 176 50 22.1239 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 194 0 0 118 93 44.0758 ATAD5 0 genome.wustl.edu 37 17 29185289 29185289 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 29185289 29185289 A - DEL ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_del c.2904 p.K970fs 0.332 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 93 0 0 88 28 24.1379 RHBDL3 0 genome.wustl.edu 37 17 30648240 30648240 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 30648240 30648240 C - DEL RHBDL3 ENST00000269051 human ensembl 74_37 +1 known frame_shift_del c.1207 p.*405fs 0.980 NULL pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom - no_errors RHBDL3 HGNC ENSG00000141314 66 0 0 53 14 20.8955 LHX1 0 genome.wustl.edu 37 17 35300395 35300395 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 35300395 35300395 C - DEL LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_del c.1188 p.E399fs 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 18 0 0 16 7 30.4348 ITGAE 0 genome.wustl.edu 37 17 3635754 3635754 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 3635754 3635754 A - DEL ITGAE ENST00000263087 human ensembl 74_37 -1 known frame_shift_del c.2662 p.S888fs 0.993 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 93 0 0 108 10 8.47458 TOP2A 0 genome.wustl.edu 37 17 38546381 38546381 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 38546381 38546381 T - DEL TOP2A ENST00000423485 human ensembl 74_37 -1 known frame_shift_del c.4303 p.R1435fs 0.997 pfam_DTHCT pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 21 0 0 28 16 36.3636 KRT36 0 genome.wustl.edu 37 17 39642761 39642761 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 39642761 39642761 G - DEL KRT36 ENST00000328119 human ensembl 74_37 -1 known frame_shift_del c.1271 p.P424fs 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 25 0 0 38 5 11.6279 NKIRAS2 0 genome.wustl.edu 37 17 40174474 40174474 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 40174474 40174474 G - DEL NKIRAS2 ENST00000307641 human ensembl 74_37 +1 known frame_shift_del c.152 p.V53fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS2 HGNC ENSG00000168256 73 0 0 45 24 34.7826 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 154 0 0 108 73 40.3315 HSF5 0 genome.wustl.edu 37 17 56565339 56565340 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 56565339 56565340 - C INS HSF5 ENST00000323777 human ensembl 74_37 -1 known frame_shift_ins c.297_296 p.G100fs 0.200:0.197 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 15 0 0 17 2 10.5263 MIR633 0 genome.wustl.edu 37 17 61021673 61021673 + RNA DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 61021673 61021673 A - DEL MIR633 ENST00000384821 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR633 HGNC ENSG00000207552 39 0 0 33 20 37.7358 HELZ 0 genome.wustl.edu 37 17 65105425 65105425 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 65105425 65105425 A - DEL HELZ ENST00000358691 human ensembl 74_37 -1 known frame_shift_del c.4296 p.F1432fs 0.383 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 102 0 0 74 25 25.2525 BAHCC1 0 genome.wustl.edu 37 17 79411726 79411726 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 79411726 79411726 C - DEL BAHCC1 ENST00000307745 human ensembl 74_37 +1 known frame_shift_del c.2545 p.G851fs 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 39 0 0 47 10 17.5439 HEXDC 0 genome.wustl.edu 37 17 80400208 80400208 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 80400208 80400208 C - DEL HEXDC ENST00000337014 human ensembl 74_37 +1 known frame_shift_del c.1498 p.R502fs 0.001 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 35 0 0 25 6 19.3548 CTC1 0 genome.wustl.edu 37 17 8135356 8135357 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 17 8135356 8135357 - G INS CTC1 ENST00000315684 human ensembl 74_37 -1 known frame_shift_ins c.2250_2249 p.G751fs 0.000:0.000 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 73 0 0 67 18 21.1765 AQP4 0 genome.wustl.edu 37 18 24442217 24442217 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 24442217 24442217 C - DEL AQP4 ENST00000383168 human ensembl 74_37 -1 known frame_shift_del c.376 p.A126fs 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP4 HGNC ENSG00000171885 110 0 0 83 53 38.9706 ZBTB7C 0 genome.wustl.edu 37 18 45567076 45567076 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 45567076 45567076 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.403 p.E135fs 0.994 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 ZBTB7C HGNC ENSG00000184828 56 0 0 49 9 15.5172 CTIF 0 genome.wustl.edu 37 18 46163043 46163043 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 46163043 46163043 C - DEL CTIF ENST00000382998 human ensembl 74_37 +1 known frame_shift_del c.239 p.P82fs 0.778 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 26 0 0 47 4 7.84314 FECH 0 genome.wustl.edu 37 18 55221591 55221591 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 55221591 55221591 C - DEL FECH ENST00000382873 human ensembl 74_37 -1 known frame_shift_del c.996 p.R333fs 0.051 pfam_Ferrochelatase,tigrfam_Ferrochelatase pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 359 0 0 307 30 8.90208 DSEL 0 genome.wustl.edu 37 18 65179868 65179869 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 65179868 65179869 - T INS DSEL ENST00000310045 human ensembl 74_37 -1 known frame_shift_ins c.2008_2007 p.R669fs 1.000:1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 174 0 0 126 54 30 ANKRD12 0 genome.wustl.edu 37 18 9263859 9263861 + In_Frame_Del DEL ACT ACT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 ACT ACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 18 9263859 9263861 ACT - DEL ANKRD12 ENST00000262126 human ensembl 74_37 +1 known in_frame_del c.5736_5738 p.L1913in_frame_del 1.000:1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 146 0 0 126 49 28 MAN2B1 0 genome.wustl.edu 37 19 12759984 12759984 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 12759984 12759984 C - DEL MAN2B1 ENST00000456935 human ensembl 74_37 -1 known frame_shift_del c.2402 p.G801fs 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 48 0 0 59 13 18.0556 CACNA1A 0 genome.wustl.edu 37 19 13397337 13397338 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 13397337 13397338 - G INS CACNA1A ENST00000360228 human ensembl 74_37 -1 known frame_shift_ins c.3533_3532 p.L1178fs 1.000:0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 10 0 0 26 9 25.7143 NWD1 0 genome.wustl.edu 37 19 16860457 16860457 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 16860457 16860457 C - DEL NWD1 ENST00000379808 human ensembl 74_37 +1 known frame_shift_del c.1004 p.L337fs 0.000 superfamily_P-loop_NTPase pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 91 0 0 67 23 25.5556 ZNF724P 0 genome.wustl.edu 37 19 23406702 23406702 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 23406702 23406702 T - DEL ZNF724P ENST00000418100 human ensembl 74_37 -1 novel frame_shift_del c.345 p.G116fs 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 ZNF724P HGNC ENSG00000196081 25 0 0 18 8 30.7692 SPTBN4 0 genome.wustl.edu 37 19 41066342 41066342 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 41066342 41066342 C - DEL SPTBN4 ENST00000392023 human ensembl 74_37 +1 known frame_shift_del c.1976 p.W661fs 0.000 NULL pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin - no_errors SPTBN4 HGNC ENSG00000160460 49 0 0 53 17 24.2857 CEACAM4 0 genome.wustl.edu 37 19 42133319 42133320 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 42133319 42133320 - G INS CEACAM4 ENST00000221954 human ensembl 74_37 -1 known frame_shift_ins c.13_12 p.S4fs 0.021:0.019 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors CEACAM4 HGNC ENSG00000105352 32 0 0 38 7 15.5556 ARHGEF1 0 genome.wustl.edu 37 19 42406477 42406479 + In_Frame_Del DEL GAG GAG - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 42406477 42406479 GAG - DEL ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known in_frame_del c.1513_1515 p.E506in_frame_del 0.996:1.000:1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 59 0 0 40 12 23.0769 POU2F2 0 genome.wustl.edu 37 19 42596301 42596302 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 42596301 42596302 - G INS POU2F2 ENST00000342301 human ensembl 74_37 -1 known frame_shift_ins c.1320_1319 p.A441fs 1.000:1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 12 0 0 10 5 33.3333 DMPK 0 genome.wustl.edu 37 19 46283130 46283130 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 46283130 46283130 G - DEL DMPK ENST00000343373 human ensembl 74_37 -1 known frame_shift_del c.188 p.P63fs 0.352 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 39 0 0 45 4 8.16327 ARHGAP35 0 genome.wustl.edu 37 19 47424841 47424841 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 47424841 47424841 C - DEL ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known frame_shift_del c.2909 p.R972fs 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 118 0 0 94 31 24.8 GLTSCR1 0 genome.wustl.edu 37 19 48197891 48197891 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 48197891 48197891 C - DEL GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_del c.2803 p.P937fs 0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 19 0 0 18 6 25 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 23 0 0 43 6 12.2449 MED25 0 genome.wustl.edu 37 19 50333113 50333113 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 50333113 50333113 C - DEL MED25 ENST00000312865 human ensembl 74_37 +1 known frame_shift_del c.596 p.P201fs 0.380 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 23 0 0 8 8 50 ZNF880 0 genome.wustl.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 52877717 52877717 T - DEL ZNF880 ENST00000597976 human ensembl 74_37 +1 putative frame_shift_del c.305 p.F105fs 0.091 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 9 0 0 3 2 40 NLRP13 0 genome.wustl.edu 37 19 56423928 56423929 + Frame_Shift_Del DEL AG AG - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 56423928 56423929 AG - DEL NLRP13 ENST00000342929 human ensembl 74_37 -1 known frame_shift_del c.1255_1254 p.F419fs 0.000:0.000 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 NLRP13 HGNC ENSG00000173572 133 0 0 112 63 36 ZIM3 0 genome.wustl.edu 37 19 57646387 57646387 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 57646387 57646387 T - DEL ZIM3 ENST00000269834 human ensembl 74_37 -1 known frame_shift_del c.1318 p.T440fs 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 ZIM3 HGNC ENSG00000141946 372 0 0 247 106 30.0283 MZF1 0 genome.wustl.edu 37 19 59073814 59073816 + In_Frame_Del DEL GAG GAG - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 59073814 59073816 GAG - DEL MZF1 ENST00000215057 human ensembl 74_37 -1 known in_frame_del c.1830_1828 p.L610in_frame_del 0.395:0.064:0.005 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 12 0 0 8 4 33.3333 FBN3 0 genome.wustl.edu 37 19 8193949 8193949 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 8193949 8193949 G - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.2259 p.G754fs 0.646 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 91 0 0 81 19 19 MUC16 0 genome.wustl.edu 37 19 9071463 9071463 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 19 9071463 9071463 G - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.15983 p.P5328fs 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 106 0 0 81 12 12.9032 EIF5B 0 genome.wustl.edu 37 2 100015269 100015270 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 100015269 100015270 - A INS EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_ins c.3452_3453 p.G1154fs 1.000:0.958 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 88 0 0 63 39 38.2353 AFF3 0 genome.wustl.edu 37 2 100343570 100343571 + Frame_Shift_Ins INS - - TG TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 100343570 100343571 - TG INS AFF3 ENST00000356421 human ensembl 74_37 -1 known frame_shift_ins c.1135_1134 p.E378fs 1.000:1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 117 0 0 120 8 6.25 MAP3K2 0 genome.wustl.edu 37 2 128096511 128096511 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 128096511 128096511 T - DEL MAP3K2 ENST00000344908 human ensembl 74_37 -1 known frame_shift_del c.120 p.K40fs 0.721 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 33 0 0 10 14 58.3333 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 289 0 0 193 103 34.7973 KIF5C 0 genome.wustl.edu 37 2 149861973 149861973 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 149861973 149861973 A - DEL KIF5C ENST00000435030 human ensembl 74_37 +1 known frame_shift_del c.2440 p.S816fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 55 0 0 34 20 37.037 RIF1 0 genome.wustl.edu 37 2 152293790 152293790 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 152293790 152293790 T - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.1408 p.S472fs 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 201 0 0 195 30 13.3333 RIF1 0 genome.wustl.edu 37 2 152319553 152319553 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 152319553 152319553 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.3519 p.A1176fs 0.019 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 117 0 0 82 40 32.7869 CCDC148 0 genome.wustl.edu 37 2 159077217 159077217 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 159077217 159077217 T - DEL CCDC148 ENST00000283233 human ensembl 74_37 -1 known frame_shift_del c.1260 p.K420fs 1.000 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 66 0 0 43 16 27.1186 SCN3A 0 genome.wustl.edu 37 2 165997164 165997165 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 165997164 165997165 - G INS SCN3A ENST00000283254 human ensembl 74_37 -1 known frame_shift_ins c.2016_2015 p.E673fs 1.000:1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 65 0 0 49 26 34.6667 SCN9A 0 genome.wustl.edu 37 2 167055359 167055359 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 167055359 167055359 T - DEL SCN9A ENST00000303354 human ensembl 74_37 -1 known frame_shift_del c.5793 p.D1932fs 0.960 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 94 0 0 54 27 33.3333 DHRS9 0 genome.wustl.edu 37 2 169938083 169938083 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 169938083 169938083 G - DEL DHRS9 ENST00000432060 human ensembl 74_37 +1 known frame_shift_del c.172 p.G59fs 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 171 0 0 97 45 31.6901 SESTD1 0 genome.wustl.edu 37 2 179986628 179986628 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 179986628 179986628 T - DEL SESTD1 ENST00000428443 human ensembl 74_37 -1 known frame_shift_del c.1311 p.G438fs 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 138 0 0 99 51 34 STAT4 0 genome.wustl.edu 37 2 191898700 191898701 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 191898700 191898701 - A INS STAT4 ENST00000358470 human ensembl 74_37 -1 known frame_shift_ins c.1652_1651 p.W551fs 1.000:1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 297 0 0 332 34 9.28962 AOX1 0 genome.wustl.edu 37 2 201469483 201469483 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 201469483 201469483 C - DEL AOX1 ENST00000374700 human ensembl 74_37 +1 known frame_shift_del c.734 p.V247fs 0.983 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 154 0 0 109 73 40.1099 AOX1 0 genome.wustl.edu 37 2 201477410 201477410 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 201477410 201477410 T - DEL AOX1 ENST00000374700 human ensembl 74_37 +1 known frame_shift_del c.1342 p.F449fs 0.897 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 132 0 0 112 47 29.5597 KANSL1L 0 genome.wustl.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 210887680 210887680 T - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.2957 p.N986fs 0.980 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 138 0 0 105 9 7.89474 HDLBP 0 genome.wustl.edu 37 2 242169029 242169029 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 242169029 242169029 C - DEL HDLBP ENST00000310931 human ensembl 74_37 -1 known frame_shift_del c.3794 p.G1265fs 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 79 0 0 83 7 7.77778 STK25 0 genome.wustl.edu 37 2 242438541 242438541 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 242438541 242438541 C - DEL STK25 ENST00000316586 human ensembl 74_37 -1 known frame_shift_del c.634 p.E212fs 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,prints_Ser-Thr/Tyr_kinase_cat_dom 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK25 HGNC ENSG00000115694 64 0 0 71 27 27.551 RMDN2 0 genome.wustl.edu 37 2 38201322 38201323 + Frame_Shift_Del DEL GA GA - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 38201322 38201323 GA - DEL RMDN2 ENST00000234195 human ensembl 74_37 +1 known frame_shift_del c.1126_1127 p.S377fs 0.999:1.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 156 0 0 111 56 33.5329 FOXN2 0 genome.wustl.edu 37 2 48602092 48602092 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 48602092 48602092 A - DEL FOXN2 ENST00000340553 human ensembl 74_37 +1 known frame_shift_del c.806 p.K271fs 0.981 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 92 0 0 105 39 27.0833 PELI1 0 genome.wustl.edu 37 2 64323400 64323401 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 64323400 64323401 - A INS PELI1 ENST00000358912 human ensembl 74_37 -1 known frame_shift_ins c.549_548 p.L183fs 0.997:1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI1 HGNC ENSG00000197329 217 0 0 130 80 38.0952 FBXO48 0 genome.wustl.edu 37 2 68691370 68691370 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 68691370 68691370 C - DEL FBXO48 ENST00000377957 human ensembl 74_37 -1 known frame_shift_del c.439 p.E147fs 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO48 HGNC ENSG00000204923 649 0 0 485 175 26.5152 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 78 0 0 76 18 19.1489 ALMS1 0 genome.wustl.edu 37 2 73827831 73827831 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 73827831 73827831 A - DEL ALMS1 ENST00000264448 human ensembl 74_37 +1 known frame_shift_del c.11692 p.K3899fs 0.003 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 85 0 0 59 23 28.0488 SEMA4C 0 genome.wustl.edu 37 2 97526890 97526890 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 2 97526890 97526890 G - DEL SEMA4C ENST00000305476 human ensembl 74_37 -1 known frame_shift_del c.1975 p.L659fs 0.968 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 25 0 0 26 4 13.3333 RRBP1 0 genome.wustl.edu 37 20 17639446 17639446 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 17639446 17639446 T - DEL RRBP1 ENST00000246043 human ensembl 74_37 -1 known frame_shift_del c.1707 p.A570fs 0.945 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 174 0 0 198 73 26.9373 SLC24A3 0 genome.wustl.edu 37 20 19646521 19646521 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 19646521 19646521 A - DEL SLC24A3 ENST00000328041 human ensembl 74_37 +1 known frame_shift_del c.701 p.V236fs 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 96 0 0 78 31 28.4404 DEFB118 0 genome.wustl.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 29960672 29960672 A - DEL DEFB118 ENST00000253381 human ensembl 74_37 +1 known frame_shift_del c.71 p.K26fs 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 62 0 0 82 30 26.7857 SLC4A11 0 genome.wustl.edu 37 20 3215425 3215425 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 3215425 3215425 A - DEL SLC4A11 ENST00000380059 human ensembl 74_37 -1 known frame_shift_del c.333 p.F111fs 1.000 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 75 0 0 87 30 25.641 ZNF341 0 genome.wustl.edu 37 20 32336863 32336863 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 32336863 32336863 C - DEL ZNF341 ENST00000375200 human ensembl 74_37 +1 known frame_shift_del c.474 p.P160fs 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 84 0 0 121 21 14.7887 SPAG4 0 genome.wustl.edu 37 20 34207646 34207646 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 34207646 34207646 C - DEL SPAG4 ENST00000374273 human ensembl 74_37 +1 known frame_shift_del c.1055 p.R354fs 0.997 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 80 0 0 109 9 7.62712 MROH8 0 genome.wustl.edu 37 20 35742483 35742484 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 35742483 35742484 - T INS MROH8 ENST00000400441 human ensembl 74_37 -1 known frame_shift_ins c.2601_2600 p.N867fs 0.001:0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 99 0 0 119 25 17.3611 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 103 0 0 139 10 6.71141 L3MBTL1 0 genome.wustl.edu 37 20 42143950 42143952 + In_Frame_Del DEL CTC CTC - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 42143950 42143952 CTC - DEL L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known in_frame_del c.606_608 p.S204in_frame_del 0.996:0.996:1.000 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 21 0 0 15 6 28.5714 PIGT 0 genome.wustl.edu 37 20 44050026 44050026 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 44050026 44050026 C - DEL PIGT ENST00000279036 human ensembl 74_37 +1 known frame_shift_del c.1037 p.P348fs 0.666 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 41 0 0 54 17 23.9437 ADNP 0 genome.wustl.edu 37 20 49510942 49510943 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 49510942 49510943 - T INS ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_ins c.309_308 p.N103fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 234 0 0 209 89 29.8658 ZNF217 0 genome.wustl.edu 37 20 52188288 52188288 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 52188288 52188288 T - DEL ZNF217 ENST00000302342 human ensembl 74_37 -1 known frame_shift_del c.3142 p.T1048fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 179 0 0 231 60 20.6186 CDH4 0 genome.wustl.edu 37 20 60511828 60511828 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 60511828 60511828 C - DEL CDH4 ENST00000360469 human ensembl 74_37 +1 known frame_shift_del c.2578 p.Y862fs 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 46 0 0 80 20 20 RTEL1 0 genome.wustl.edu 37 20 62321727 62321729 + In_Frame_Del DEL CTT CTT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 20 62321727 62321729 CTT - DEL RTEL1 ENST00000318100 human ensembl 74_37 +1 known in_frame_del c.2346_2348 p.F784in_frame_del 0.000:0.000:0.001 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 42 0 0 51 16 23.8806 ITSN1 0 genome.wustl.edu 37 21 35138206 35138206 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 21 35138206 35138206 A - DEL ITSN1 ENST00000381285 human ensembl 74_37 +1 known frame_shift_del c.816 p.K273fs 0.973 smart_EPS15_homology,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 154 0 0 121 59 32.7778 LZTR1 0 genome.wustl.edu 37 22 21348214 21348216 + In_Frame_Del DEL AGG AGG - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 21348214 21348216 AGG - DEL LZTR1 ENST00000215739 human ensembl 74_37 +1 known in_frame_del c.1355_1357 p.E454in_frame_del 1.000:1.000:1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 17 0 0 10 7 41.1765 CHEK2 0 genome.wustl.edu 37 22 29115460 29115460 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 29115460 29115460 A - DEL CHEK2 ENST00000382580 human ensembl 74_37 -1 known frame_shift_del c.735 p.F245fs 1.000 superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 22 0 0 23 8 25.8065 AP1B1 0 genome.wustl.edu 37 22 29727880 29727880 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 29727880 29727880 G - DEL AP1B1 ENST00000357586 human ensembl 74_37 -1 known frame_shift_del c.2335 p.L779fs 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 34 0 0 27 14 34.1463 DDX17 0 genome.wustl.edu 37 22 38897211 38897211 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 22 38897211 38897211 T - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.362 p.K121fs 1.000 NULL 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 DDX17 HGNC ENSG00000100201 107 0 0 77 32 29.3578 ATP2B2 0 genome.wustl.edu 37 3 10443967 10443967 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 10443967 10443967 C - DEL ATP2B2 ENST00000352432 human ensembl 74_37 -1 known frame_shift_del c.463 p.A155fs 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 146 0 0 135 13 8.78378 MIR567 0 genome.wustl.edu 37 3 111831724 111831726 + RNA DEL AAA AAA - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 111831724 111831726 AAA - DEL MIR567 ENST00000385205 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors MIR567 HGNC ENSG00000207940 21 0 0 15 13 46.4286 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 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 110 0 0 67 33 33 ABTB1 0 genome.wustl.edu 37 3 127396600 127396600 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 127396600 127396600 G - DEL ABTB1 ENST00000232744 human ensembl 74_37 +1 known frame_shift_del c.943 p.G316fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 18 0 0 20 5 20 TMEM43 0 genome.wustl.edu 37 3 14183281 14183281 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 14183281 14183281 A - DEL TMEM43 ENST00000306077 human ensembl 74_37 +1 known frame_shift_del c.1189 p.K398fs 1.000 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 37 0 0 24 12 33.3333 XRN1 0 genome.wustl.edu 37 3 142142409 142142409 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 142142409 142142409 T - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.703 p.T235fs 0.869 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 112 0 0 82 40 32.7869 SERPINI2 0 genome.wustl.edu 37 3 167189546 167189546 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 167189546 167189546 T - DEL SERPINI2 ENST00000264677 human ensembl 74_37 -1 known frame_shift_del c.77 p.N26fs 0.002 pfam_Serpin_dom,superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 336 0 0 225 122 35.1585 EIF5A2 0 genome.wustl.edu 37 3 170625513 170625513 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 170625513 170625513 T - DEL EIF5A2 ENST00000295822 human ensembl 74_37 -1 known frame_shift_del c.83 p.N28fs 1.000 pfam_KOW,superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A2 HGNC ENSG00000163577 269 0 0 230 87 27.4448 TBL1XR1 0 genome.wustl.edu 37 3 176769342 176769342 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 176769342 176769342 T - DEL TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known frame_shift_del c.377 p.N126fs 1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 219 0 0 159 69 30.2632 MFN1 0 genome.wustl.edu 37 3 179076773 179076774 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 179076773 179076774 - A INS MFN1 ENST00000263969 human ensembl 74_37 +1 known frame_shift_ins c.394_395 p.S135fs 1.000:1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 142 0 0 127 10 7.29927 ABCC5 0 genome.wustl.edu 37 3 183685490 183685490 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 183685490 183685490 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.1826 p.L609fs 1.000 pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 296 0 0 204 124 37.8049 TMEM41A 0 genome.wustl.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 185212517 185212518 - A INS TMEM41A ENST00000421852 human ensembl 74_37 -1 known frame_shift_ins c.468_467 p.L158fs 0.999:1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 204 0 0 181 54 22.9787 SDHAP1 0 genome.wustl.edu 37 3 195709193 195709193 + RNA DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 195709193 195709193 A - DEL SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 0.759 - - - no_errors SDHAP1 HGNC ENSG00000185485 109 0 0 71 18 20.2247 DLG1 0 genome.wustl.edu 37 3 196857450 196857450 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 196857450 196857450 T - DEL DLG1 ENST00000346964 human ensembl 74_37 -1 known frame_shift_del c.1212 p.K404fs 1.000 pfam_PDZ_assoc,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 186 0 0 123 55 30.8989 PDCD6IP 0 genome.wustl.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 33866811 33866811 T - DEL PDCD6IP ENST00000457054 human ensembl 74_37 +1 known frame_shift_del c.595 p.L201fs 0.997 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 243 0 0 163 79 32.6446 CYP8B1 0 genome.wustl.edu 37 3 42916909 42916909 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 42916909 42916909 C - DEL CYP8B1 ENST00000316161 human ensembl 74_37 -1 known frame_shift_del c.400 p.D134fs 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 210 0 0 178 21 10.5528 SETD2 0 genome.wustl.edu 37 3 47103666 47103666 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 47103666 47103666 T - DEL SETD2 ENST00000409792 human ensembl 74_37 -1 known frame_shift_del c.6280 p.R2094fs 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 552 0 0 563 95 14.4377 PTPN23 0 genome.wustl.edu 37 3 47452322 47452322 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 47452322 47452322 C - DEL PTPN23 ENST00000265562 human ensembl 74_37 +1 known frame_shift_del c.3034 p.L1014fs 0.556 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 23 0 0 26 7 21.2121 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 50 0 0 54 6 10 RBM15B 0 genome.wustl.edu 37 3 51430740 51430742 + In_Frame_Del DEL AGG AGG - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 51430740 51430742 AGG - DEL RBM15B ENST00000323686 human ensembl 74_37 +1 known in_frame_del c.1910_1912 p.E638in_frame_del 0.993:0.994:1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 20 0 0 19 7 26.9231 DNAH1 0 genome.wustl.edu 37 3 52378637 52378639 + In_Frame_Del DEL AGG AGG - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 52378637 52378639 AGG - DEL DNAH1 ENST00000420323 human ensembl 74_37 +1 known in_frame_del c.1418_1420 p.E476in_frame_del 0.974:0.974:1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 38 0 0 24 11 31.4286 GLT8D1 0 genome.wustl.edu 37 3 52731828 52731828 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 52731828 52731828 C - DEL GLT8D1 ENST00000266014 human ensembl 74_37 -1 known frame_shift_del c.238 p.A80fs 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 147 0 0 88 32 26.6667 CCDC66 0 genome.wustl.edu 37 3 56597857 56597857 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 56597857 56597857 A - DEL CCDC66 ENST00000394672 human ensembl 74_37 +1 known frame_shift_del c.248 p.N85fs 0.998 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 24 0 0 12 8 40 DNAH12 0 genome.wustl.edu 37 3 57528532 57528532 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 57528532 57528532 G - DEL DNAH12 ENST00000351747 human ensembl 74_37 -1 known frame_shift_del c.66 p.I23fs 0.947 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 222 0 0 151 76 33.4802 ROBO2 0 genome.wustl.edu 37 3 77657037 77657038 + Frame_Shift_Ins INS - - C TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 77657037 77657038 - C INS ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_ins c.3225_3226 p.V1078fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 70 0 0 54 16 22.8571 ROBO1 0 genome.wustl.edu 37 3 78710235 78710235 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 78710235 78710235 A - DEL ROBO1 ENST00000464233 human ensembl 74_37 -1 known frame_shift_del c.2265 p.F755fs 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 53 0 0 48 17 26.1538 OR5K2 0 genome.wustl.edu 37 3 98216757 98216757 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 3 98216757 98216757 C - DEL OR5K2 ENST00000427338 human ensembl 74_37 +1 known frame_shift_del c.233 p.M81fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K2 HGNC ENSG00000231861 482 0 0 340 155 31.3131 MANBA 0 genome.wustl.edu 37 4 103645126 103645127 + Splice_Site INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 103645126 103645127 - A INS MANBA ENST00000226578 human ensembl 74_37 -1 known splice_site_ins c.273-3_273-2 e3-2 1.000:0.975 - - - no_errors MANBA HGNC ENSG00000109323 64 0 0 47 16 25.3968 CYP2U1 0 genome.wustl.edu 37 4 108870643 108870643 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 108870643 108870643 A - DEL CYP2U1 ENST00000332884 human ensembl 74_37 +1 known frame_shift_del c.1426 p.E478fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 133 0 0 127 18 12.4138 LARP7 0 genome.wustl.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 113570754 113570754 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1206 p.T405fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 64 0 0 31 20 39.2157 ZNF827 0 genome.wustl.edu 37 4 146700596 146700596 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 146700596 146700596 A - DEL ZNF827 ENST00000508784 human ensembl 74_37 -1 known frame_shift_del c.2451 p.C819fs 0.924 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 107 0 0 80 40 33.3333 TMA16 0 genome.wustl.edu 37 4 164428219 164428219 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 164428219 164428219 A - DEL TMA16 ENST00000358572 human ensembl 74_37 +1 known frame_shift_del c.38 p.V16fs 1.000 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 23 0 0 21 5 19.2308 TMA16 0 genome.wustl.edu 37 4 164435265 164435265 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 164435265 164435265 A - DEL TMA16 ENST00000358572 human ensembl 74_37 +1 known frame_shift_del c.194 p.K67fs 0.343 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 231 0 0 154 61 28.3721 LAP3 0 genome.wustl.edu 37 4 17585226 17585226 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 17585226 17585226 A - DEL LAP3 ENST00000226299 human ensembl 74_37 +1 known frame_shift_del c.500 p.K169fs 1.000 pfam_Peptidase_M17_N pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 131 0 0 89 50 35.9712 UFSP2 0 genome.wustl.edu 37 4 186336370 186336370 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 186336370 186336370 T - DEL UFSP2 ENST00000264689 human ensembl 74_37 -1 known frame_shift_del c.623 p.N208fs 0.013 NULL pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 146 0 0 100 51 33.7748 SORBS2 0 genome.wustl.edu 37 4 186515044 186515044 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 186515044 186515044 C - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.3130 p.E1044fs 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 217 0 0 137 70 33.8164 HGFAC 0 genome.wustl.edu 37 4 3449219 3449219 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 3449219 3449219 C - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known frame_shift_del c.1356 p.R455fs 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 91 0 0 83 10 10.7527 OTOP1 0 genome.wustl.edu 37 4 4199303 4199303 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 4199303 4199303 G - DEL OTOP1 ENST00000296358 human ensembl 74_37 -1 known frame_shift_del c.1258 p.R420fs 0.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 125 0 0 76 38 33.3333 UGT2B17 0 genome.wustl.edu 37 4 69433562 69433562 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 69433562 69433562 T - DEL UGT2B17 ENST00000317746 human ensembl 74_37 -1 known frame_shift_del c.641 p.N214fs 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 307 0 0 192 117 37.8641 PTPN13 0 genome.wustl.edu 37 4 87691032 87691032 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 4 87691032 87691032 A - DEL PTPN13 ENST00000436978 human ensembl 74_37 +1 known frame_shift_del c.4615 p.K1540fs 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 194 0 0 102 69 40.3509 CTNND2 0 genome.wustl.edu 37 5 11384949 11384949 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 11384949 11384949 G - DEL CTNND2 ENST00000304623 human ensembl 74_37 -1 known frame_shift_del c.1005 p.T336fs 0.973 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 17 0 0 9 10 52.6316 AFF4 0 genome.wustl.edu 37 5 132232627 132232627 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 132232627 132232627 T - DEL AFF4 ENST00000265343 human ensembl 74_37 -1 known frame_shift_del c.1695 p.K565fs 0.999 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 236 0 0 221 41 15.6489 BRD8 0 genome.wustl.edu 37 5 137505020 137505021 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 137505020 137505021 - G INS BRD8 ENST00000254900 human ensembl 74_37 -1 known frame_shift_ins c.533_532 p.R178fs 1.000:1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 164 0 0 120 30 20 PCDHB14 0 genome.wustl.edu 37 5 140604247 140604247 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 140604247 140604247 T - DEL PCDHB14 ENST00000239449 human ensembl 74_37 +1 known frame_shift_del c.1170 p.F392fs 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 251 0 0 179 66 26.9388 PCDH1 0 genome.wustl.edu 37 5 141242815 141242815 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 141242815 141242815 G - DEL PCDH1 ENST00000287008 human ensembl 74_37 -1 known frame_shift_del c.3081 p.K1028fs 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 80 0 0 61 22 26.506 TCERG1 0 genome.wustl.edu 37 5 145843206 145843206 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 145843206 145843206 G - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.985 p.V329fs 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 261 0 0 174 77 30.6773 SPINK5 0 genome.wustl.edu 37 5 147505129 147505129 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 147505129 147505129 T - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.2782 p.F928fs 0.001 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 87 0 0 46 33 41.7722 GRPEL2 0 genome.wustl.edu 37 5 148730613 148730613 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 148730613 148730613 T - DEL GRPEL2 ENST00000329271 human ensembl 74_37 +1 known frame_shift_del c.446 p.L150fs 1.000 pfam_GrpE pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL2 HGNC ENSG00000164284 228 0 0 177 86 32.6996 MRPL22 0 genome.wustl.edu 37 5 154339601 154339602 + Frame_Shift_Del DEL TA TA - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 154339601 154339602 TA - DEL MRPL22 ENST00000523037 human ensembl 74_37 +1 known frame_shift_del c.401_402 p.I136fs 1.000:0.994 pfam_Ribosomal_L22,superfamily_Ribosomal_L22 pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC ENSG00000082515 115 0 0 102 13 11.3043 PLEKHG4B 0 genome.wustl.edu 37 5 171386 171386 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 171386 171386 G - DEL PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known frame_shift_del c.2809 p.V937fs 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 23 0 0 22 11 33.3333 STK10 0 genome.wustl.edu 37 5 171517344 171517345 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 171517344 171517345 - T INS STK10 ENST00000176763 human ensembl 74_37 -1 known frame_shift_ins c.1577_1576 p.T526fs 1.000:1.000 NULL pfam_PKK,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 STK10 HGNC ENSG00000072786 400 0 0 357 33 8.46154 SQSTM1 0 genome.wustl.edu 37 5 179250925 179250925 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 179250925 179250925 C - DEL SQSTM1 ENST00000389805 human ensembl 74_37 +1 known frame_shift_del c.369 p.N125fs 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 109 0 0 74 29 28.1553 LRRC14B 0 genome.wustl.edu 37 5 191707 191707 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 191707 191707 C - DEL LRRC14B ENST00000328278 human ensembl 74_37 +1 novel frame_shift_del c.54 p.Q20fs 0.122 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 27 0 0 18 8 30.7692 MTMR12 0 genome.wustl.edu 37 5 32235098 32235100 + In_Frame_Del DEL GAA GAA - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 32235098 32235100 GAA - DEL MTMR12 ENST00000382142 human ensembl 74_37 -1 known in_frame_del c.1482_1480 p.F494in_frame_del 1.000:1.000:1.000 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 143 0 0 98 38 27.9412 IL7R 0 genome.wustl.edu 37 5 35867541 35867541 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 35867541 35867541 A - DEL IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_del c.355 p.I121fs 0.165 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 156 0 0 103 51 33.1169 MROH2B 0 genome.wustl.edu 37 5 41004528 41004528 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 41004528 41004528 T - DEL MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_del c.4114 p.I1372fs 0.954 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 209 0 0 166 53 24.2009 MAP3K1 0 genome.wustl.edu 37 5 56177984 56177986 + In_Frame_Del DEL CTT CTT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 56177984 56177986 CTT - DEL MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel in_frame_del c.2957_2959 p.S989in_frame_del 0.874:0.305:0.323 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 229 0 0 142 60 29.703 ACTBL2 0 genome.wustl.edu 37 5 56778450 56778450 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 56778450 56778450 G - DEL ACTBL2 ENST00000423391 human ensembl 74_37 -1 known frame_shift_del c.85 p.R29fs 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 49 0 0 41 18 30.5085 SREK1IP1 0 genome.wustl.edu 37 5 64023941 64023941 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 64023941 64023941 T - DEL SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known frame_shift_del c.271 p.R91fs 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 21 0 0 14 7 33.3333 PAPD4 0 genome.wustl.edu 37 5 78938656 78938657 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 5 78938656 78938657 - T INS PAPD4 ENST00000296783 human ensembl 74_37 +1 known frame_shift_ins c.674_675 p.Q228fs 0.846:0.988 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 69 0 0 67 8 10.6667 MCHR2 0 genome.wustl.edu 37 6 100382358 100382359 + Frame_Shift_Del DEL AA AA - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 100382358 100382359 AA - DEL MCHR2 ENST00000281806 human ensembl 74_37 -1 known frame_shift_del c.623_622 p.F208fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 178 0 0 159 57 26.3889 PDSS2 0 genome.wustl.edu 37 6 107780431 107780431 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 107780431 107780431 G - DEL PDSS2 ENST00000369037 human ensembl 74_37 -1 known frame_shift_del c.59 p.P20fs 0.000 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 87 0 0 81 25 23.5849 FOXO3 0 genome.wustl.edu 37 6 108985249 108985249 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 108985249 108985249 G - DEL FOXO3 ENST00000343882 human ensembl 74_37 +1 known frame_shift_del c.1213 p.G406fs 0.074 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 118 0 0 100 42 29.5775 HIVEP1 0 genome.wustl.edu 37 6 12120205 12120206 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 12120205 12120206 - A INS HIVEP1 ENST00000379388 human ensembl 74_37 +1 known frame_shift_ins c.177_178 p.I61fs 1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 269 0 0 230 79 25.5663 CLVS2 0 genome.wustl.edu 37 6 123376954 123376954 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 123376954 123376954 T - DEL CLVS2 ENST00000275162 human ensembl 74_37 +1 known frame_shift_del c.679 p.L228fs 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 221 0 0 107 69 39.2045 EYA4 0 genome.wustl.edu 37 6 133846386 133846386 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 133846386 133846386 A - DEL EYA4 ENST00000367895 human ensembl 74_37 +1 known frame_shift_del c.1833 p.K613fs 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 102 0 0 76 28 26.9231 JARID2 0 genome.wustl.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 15496722 15496722 G - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1266 p.R425fs 0.963 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 44 0 0 51 5 8.92857 RSPH3 0 genome.wustl.edu 37 6 159399331 159399331 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 159399331 159399331 T - DEL RSPH3 ENST00000252655 human ensembl 74_37 -1 known frame_shift_del c.1333 p.T445fs 0.878 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 78 0 0 67 35 34.3137 C6orf62 0 genome.wustl.edu 37 6 24718771 24718773 + In_Frame_Del DEL CTC CTC - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 24718771 24718773 CTC - DEL C6orf62 ENST00000378119 human ensembl 74_37 -1 known in_frame_del c.126_124 p.E42in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors C6orf62 HGNC ENSG00000112308 133 0 0 99 39 28.2609 BTN1A1 0 genome.wustl.edu 37 6 26509183 26509183 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 26509183 26509183 C - DEL BTN1A1 ENST00000244513 human ensembl 74_37 +1 known frame_shift_del c.1362 p.L456fs 0.724 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 118 0 0 74 43 36.7521 HIST1H1B 0 genome.wustl.edu 37 6 27835239 27835241 + In_Frame_Del DEL CTT CTT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 27835239 27835241 CTT - DEL HIST1H1B ENST00000331442 human ensembl 74_37 -1 known in_frame_del c.69_67 p.K23in_frame_del 0.386:1.000:1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 100 0 0 63 30 32.2581 BAG6 0 genome.wustl.edu 37 6 31610030 31610031 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 31610030 31610031 - A INS BAG6 ENST00000404765 human ensembl 74_37 -1 known frame_shift_ins c.2194_2193 p.T731fs 1.000:1.000 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 44 0 0 25 12 32.4324 TAP1 0 genome.wustl.edu 37 6 32818901 32818902 + Frame_Shift_Del DEL CT CT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 32818901 32818902 CT - DEL TAP1 ENST00000354258 human ensembl 74_37 -1 known frame_shift_del c.1050_1049 p.E350fs 0.997:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 54 0 0 58 12 17.1429 SLC39A7 0 genome.wustl.edu 37 6 33169558 33169558 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 33169558 33169558 T - DEL SLC39A7 ENST00000374675 human ensembl 74_37 +1 known frame_shift_del c.448 p.F151fs 0.999 pfam_ZIP pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 159 0 0 110 43 28.1046 B3GALT4 0 genome.wustl.edu 37 6 33245224 33245226 + In_Frame_Del DEL CTT CTT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 33245224 33245226 CTT - DEL B3GALT4 ENST00000451237 human ensembl 74_37 +1 known in_frame_del c.28_30 p.L11in_frame_del 0.742:0.741:0.640 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 83 0 0 86 17 16.5049 PRICKLE4 0 genome.wustl.edu 37 6 41752759 41752759 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 41752759 41752759 G - DEL PRICKLE4 ENST00000335515 human ensembl 74_37 +1 known frame_shift_del c.327 p.V111fs 0.991 pfam_PET_domain pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 140 0 0 134 33 19.7605 ENPP5 0 genome.wustl.edu 37 6 46135796 46135796 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 46135796 46135796 A - DEL ENPP5 ENST00000230565 human ensembl 74_37 -1 known frame_shift_del c.204 p.F68fs 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 115 0 0 72 52 41.9355 LMBRD1 0 genome.wustl.edu 37 6 70500356 70500357 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 70500356 70500357 - A INS LMBRD1 ENST00000370577 human ensembl 74_37 -1 known frame_shift_ins c.78_77 p.L26fs 1.000:1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 128 0 0 96 26 21.3115 FAM135A 0 genome.wustl.edu 37 6 71235557 71235558 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 71235557 71235558 - T INS FAM135A ENST00000418814 human ensembl 74_37 +1 known frame_shift_ins c.2770_2771 p.S926fs 1.000:1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 167 0 0 109 53 32.716 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 13 0 0 8 5 38.4615 COL12A1 0 genome.wustl.edu 37 6 75899298 75899298 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 75899298 75899298 T - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.628 p.I210fs 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 295 0 0 297 18 5.71429 IMPG1 0 genome.wustl.edu 37 6 76751759 76751760 + Frame_Shift_Ins INS - - T TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 76751759 76751760 - T INS IMPG1 ENST00000369950 human ensembl 74_37 -1 known frame_shift_ins c.152_151 p.M51fs 0.000:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 323 0 0 246 107 30.3116 ELOVL4 0 genome.wustl.edu 37 6 80629257 80629257 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 80629257 80629257 A - DEL ELOVL4 ENST00000369816 human ensembl 74_37 -1 known frame_shift_del c.549 p.F183fs 0.331 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 92 0 0 91 10 9.90099 RNGTT 0 genome.wustl.edu 37 6 89554159 89554159 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 6 89554159 89554159 T - DEL RNGTT ENST00000369485 human ensembl 74_37 -1 known frame_shift_del c.1186 p.M396fs 1.000 pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase - no_errors RNGTT HGNC ENSG00000111880 284 0 0 245 46 15.8076 ZAN 0 genome.wustl.edu 37 7 100349969 100349969 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 100349969 100349969 C - DEL ZAN ENST00000546292 human ensembl 74_37 +1 known frame_shift_del c.2241 p.T749fs 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 52 0 0 78 8 9.30233 SRRT 0 genome.wustl.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 100479332 100479332 G - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.304 p.G104fs 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 87 0 0 80 22 21.5686 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 102760123 102760123 A - DEL NAPEPLD ENST00000455523 human ensembl 74_37 -1 known frame_shift_del c.1061 p.F354fs 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 148 0 0 159 48 23.1884 RELN 0 genome.wustl.edu 37 7 103124100 103124101 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 103124100 103124101 - G INS RELN ENST00000424685 human ensembl 74_37 -1 known frame_shift_ins c.10181_10180 p.L3394fs 1.000:0.998 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 456 0 0 541 133 19.7329 C7orf50 0 genome.wustl.edu 37 7 1049694 1049694 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 1049694 1049694 T - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.215 p.K72fs 1.000 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 40 0 0 36 26 41.9355 RINT1 0 genome.wustl.edu 37 7 105182902 105182902 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 105182902 105182902 A - DEL RINT1 ENST00000257700 human ensembl 74_37 +1 known frame_shift_del c.321 p.N109fs 1.000 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 133 0 0 178 24 11.8812 NAMPT 0 genome.wustl.edu 37 7 105908966 105908966 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 105908966 105908966 T - DEL NAMPT ENST00000222553 human ensembl 74_37 -1 known frame_shift_del c.687 p.K229fs 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 139 0 0 105 106 50.237 CFTR 0 genome.wustl.edu 37 7 117120192 117120192 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 117120192 117120192 T - DEL CFTR ENST00000003084 human ensembl 74_37 +1 known frame_shift_del c.44 p.F17fs 1.000 tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 182 0 0 259 59 18.5535 CPED1 0 genome.wustl.edu 37 7 120911388 120911388 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 120911388 120911388 A - DEL CPED1 ENST00000310396 human ensembl 74_37 +1 known frame_shift_del c.2772 p.K926fs 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 209 0 0 230 65 22.0339 ZC3HAV1 0 genome.wustl.edu 37 7 138774379 138774379 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 138774379 138774379 A - DEL ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known frame_shift_del c.435 p.F145fs 0.053 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 115 0 0 168 16 8.69565 TAS2R39 0 genome.wustl.edu 37 7 142880943 142880943 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 142880943 142880943 C - DEL TAS2R39 ENST00000446620 human ensembl 74_37 +1 known frame_shift_del c.432 p.L146fs 0.032 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R39 HGNC ENSG00000236398 210 0 0 305 29 8.68263 MICALL2 0 genome.wustl.edu 37 7 1478544 1478544 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 1478544 1478544 G - DEL MICALL2 ENST00000297508 human ensembl 74_37 -1 known frame_shift_del c.2054 p.P685fs 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 72 0 0 86 15 14.8515 SSPO 0 genome.wustl.edu 37 7 149515850 149515850 + RNA DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 149515850 149515850 G - DEL SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors SSPO HGNC ENSG00000197558 20 0 0 29 5 14.7059 GIMAP7 0 genome.wustl.edu 37 7 150217889 150217889 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 150217889 150217889 T - DEL GIMAP7 ENST00000313543 human ensembl 74_37 +1 known frame_shift_del c.827 p.F277fs 0.002 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP7 HGNC ENSG00000179144 103 0 0 112 28 20 PRKAG2 0 genome.wustl.edu 37 7 151265802 151265802 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 151265802 151265802 A - DEL PRKAG2 ENST00000287878 human ensembl 74_37 -1 known frame_shift_del c.1233 p.F411fs 1.000 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 130 0 0 147 9 5.76923 CBX3 0 genome.wustl.edu 37 7 26245999 26245999 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 26245999 26245999 A - DEL CBX3 ENST00000337620 human ensembl 74_37 +1 known frame_shift_del c.36 p.K14fs 1.000 NULL pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC ENSG00000122565 94 0 0 82 29 26.1261 PAPOLB 0 genome.wustl.edu 37 7 4901238 4901238 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 4901238 4901238 T - DEL PAPOLB ENST00000404991 human ensembl 74_37 -1 known frame_shift_del c.201 p.K67fs 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 48 0 0 57 18 24 SLC29A4 0 genome.wustl.edu 37 7 5334518 5334519 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 5334518 5334519 - G INS SLC29A4 ENST00000297195 human ensembl 74_37 +1 known frame_shift_ins c.572_573 p.M193fs 1.000:0.990 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 282 0 0 358 77 17.7011 TNRC18 0 genome.wustl.edu 37 7 5391519 5391519 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 5391519 5391519 A - DEL TNRC18 ENST00000399537 human ensembl 74_37 -1 known frame_shift_del c.5401 p.C1801fs 0.883 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 33 0 0 33 26 44.0678 CLDN3 0 genome.wustl.edu 37 7 73184302 73184303 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 73184302 73184303 - A INS CLDN3 ENST00000395145 human ensembl 74_37 -1 known frame_shift_ins c.78_77 p.L26fs 1.000:1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin3 - no_errors CLDN3 HGNC ENSG00000165215 22 0 0 36 3 7.69231 MTERF 0 genome.wustl.edu 37 7 91502949 91502949 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 7 91502949 91502949 T - DEL MTERF ENST00000351870 human ensembl 74_37 -1 known frame_shift_del c.1159 p.R387fs 0.998 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 151 0 0 139 48 25.6684 VPS13B 0 genome.wustl.edu 37 8 100523708 100523709 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 100523708 100523709 - A INS VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_ins c.4676_4677 p.T1561fs 1.000:0.965 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 113 0 0 181 29 13.8095 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 238 0 0 390 103 20.8925 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 107 0 0 96 100 51.0204 SOX7 0 genome.wustl.edu 37 8 10583646 10583646 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 10583646 10583646 G - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.925 p.L309fs 0.665 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 67 0 0 80 26 24.5283 TNFRSF11B 0 genome.wustl.edu 37 8 119936627 119936627 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 119936627 119936627 T - DEL TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known frame_shift_del c.1192 p.I398fs 1.000 pirsf_TNFR_11B,prints_TNFR_11B pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 327 0 0 517 93 15.2459 COL14A1 0 genome.wustl.edu 37 8 121256240 121256240 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 121256240 121256240 A - DEL COL14A1 ENST00000297848 human ensembl 74_37 +1 known frame_shift_del c.2472 p.T826fs 0.986 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 226 0 0 284 46 13.9394 RNF139 0 genome.wustl.edu 37 8 125498553 125498554 + Frame_Shift_Del DEL AC AC - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 125498553 125498554 AC - DEL RNF139 ENST00000303545 human ensembl 74_37 +1 known frame_shift_del c.663_664 p.Q222fs 0.999:1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 507 0 0 804 118 12.7983 CYP11B1 0 genome.wustl.edu 37 8 143958488 143958488 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 143958488 143958488 C - DEL CYP11B1 ENST00000292427 human ensembl 74_37 -1 known frame_shift_del c.546 p.S183fs 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 62 0 0 80 11 12.0879 MICU3 0 genome.wustl.edu 37 8 16944491 16944491 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 16944491 16944491 A - DEL MICU3 ENST00000318063 human ensembl 74_37 +1 known frame_shift_del c.796 p.N268fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 47 0 0 131 7 5.07246 MTUS1 0 genome.wustl.edu 37 8 17611619 17611619 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 17611619 17611619 T - DEL MTUS1 ENST00000262102 human ensembl 74_37 -1 known frame_shift_del c.1698 p.A567fs 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 566 0 0 1005 183 15.404 PCM1 0 genome.wustl.edu 37 8 17810630 17810630 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 17810630 17810630 A - DEL PCM1 ENST00000325083 human ensembl 74_37 +1 known frame_shift_del c.1223 p.M410fs 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 22 0 0 37 8 17.7778 SFTPC 0 genome.wustl.edu 37 8 22021059 22021060 + Frame_Shift_Ins INS - - GT TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 22021059 22021060 - GT INS SFTPC ENST00000318561 human ensembl 74_37 +1 known frame_shift_ins c.435_436 p.M145fs 1.000:1.000 pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC ENSG00000168484 43 0 0 102 15 12.8205 MCM4 0 genome.wustl.edu 37 8 48883979 48883979 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 48883979 48883979 A - DEL MCM4 ENST00000262105 human ensembl 74_37 +1 known frame_shift_del c.1879 p.T629fs 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 104 0 0 149 38 20.3209 ASPH 0 genome.wustl.edu 37 8 62593555 62593555 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 62593555 62593555 A - DEL ASPH ENST00000379454 human ensembl 74_37 -1 known frame_shift_del c.294 p.F98fs 1.000 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 260 0 0 506 81 13.799 JPH1 0 genome.wustl.edu 37 8 75233270 75233270 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 75233270 75233270 C - DEL JPH1 ENST00000342232 human ensembl 74_37 -1 known frame_shift_del c.253 p.E85fs 1.000 pfam_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 40 0 0 57 15 20.8333 RUNX1T1 0 genome.wustl.edu 37 8 93027002 93027002 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 93027002 93027002 G - DEL RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known frame_shift_del c.306 p.S103fs 0.846 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 82 0 0 102 16 13.5593 KCNS2 0 genome.wustl.edu 37 8 99441332 99441332 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 8 99441332 99441332 G - DEL KCNS2 ENST00000287042 human ensembl 74_37 +1 known frame_shift_del c.1125 p.Y377fs 0.731 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 177 0 0 256 36 12.3288 ANKS6 0 genome.wustl.edu 37 9 101540564 101540565 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 101540564 101540565 - G INS ANKS6 ENST00000375018 human ensembl 74_37 -1 known frame_shift_ins c.1511_1510 p.Q504fs 0.990:0.994 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 61 0 0 56 6 9.67742 CNTLN 0 genome.wustl.edu 37 9 17484353 17484353 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 17484353 17484353 A - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.3916 p.M1308fs 0.999 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 193 0 0 217 42 16.2162 HAUS6 0 genome.wustl.edu 37 9 19063047 19063047 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 19063047 19063047 T - DEL HAUS6 ENST00000380502 human ensembl 74_37 -1 known frame_shift_del c.1588 p.S530fs 0.006 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 341 0 0 235 125 34.7222 DNAJA1 0 genome.wustl.edu 37 9 33026949 33026949 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 33026949 33026949 T - DEL DNAJA1 ENST00000330899 human ensembl 74_37 +1 known frame_shift_del c.271 p.F92fs 1.000 superfamily_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 107 0 0 113 6 5.04202 PIGO 0 genome.wustl.edu 37 9 35091693 35091693 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 35091693 35091693 G - DEL PIGO ENST00000341666 human ensembl 74_37 -1 known frame_shift_del c.2191 p.R731fs 0.180 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 63 0 0 45 3 6.25 CA9 0 genome.wustl.edu 37 9 35680775 35680777 + In_Frame_Del DEL CCT CCT - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 35680775 35680777 CCT - DEL CA9 ENST00000378357 human ensembl 74_37 +1 known in_frame_del c.1263_1265 p.L423in_frame_del 0.996:0.982:0.984 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 169 0 0 121 33 21.4286 OR2S2 0 genome.wustl.edu 37 9 35957386 35957386 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 35957386 35957386 T - DEL OR2S2 ENST00000341959 human ensembl 74_37 -1 known frame_shift_del c.710 p.K237fs 1.000 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 OR2S2 HGNC ENSG00000122718 152 0 0 86 48 35.8209 SPATA31A3 0 genome.wustl.edu 37 9 40705698 40705699 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 40705698 40705699 - A INS SPATA31A3 ENST00000356699 human ensembl 74_37 +1 known frame_shift_ins c.3355_3356 p.H1121fs 0.000:0.000 NULL NULL - no_errors SPATA31A3 HGNC ENSG00000147926 634 0 0 569 56 8.96 ANKRD20A1 0 genome.wustl.edu 37 9 67966645 67966645 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 67966645 67966645 A - DEL ANKRD20A1 ENST00000377477 human ensembl 74_37 +1 known frame_shift_del c.1369 p.N459fs 0.966 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A1 HGNC ENSG00000196774 65 0 0 20 3 13.0435 TMC1 0 genome.wustl.edu 37 9 75404223 75404223 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 75404223 75404223 A - DEL TMC1 ENST00000297784 human ensembl 74_37 +1 known frame_shift_del c.1214 p.N407fs 1.000 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 106 0 0 99 37 27.2059 ENSG00000229454 0 genome.wustl.edu 37 9 88370966 88370966 + RNA DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 88370966 88370966 T - DEL ENSG00000229454 ENST00000447148 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-202I11.2 Clone_based_vega_gene ENSG00000229454 49 0 0 19 11 36.6667 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 27 0 0 19 4 17.3913 SASH3 0 genome.wustl.edu 37 X 128926361 128926361 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 128926361 128926361 C - DEL SASH3 ENST00000356892 human ensembl 74_37 +1 known frame_shift_del c.500 p.Q169fs 0.369 pfam_rSAM/SH3_domain-containing,superfamily_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC ENSG00000122122 99 0 0 104 10 8.77193 CHDC2 0 genome.wustl.edu 37 X 36117910 36117910 + Frame_Shift_Del DEL A A - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 36117910 36117910 A - DEL CHDC2 ENST00000313548 human ensembl 74_37 +1 known frame_shift_del c.766 p.K257fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 138 0 0 116 27 18.8811 PRRG1 0 genome.wustl.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 37312611 37312611 C - DEL PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_del c.394 p.P134fs 0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 99 0 0 39 93 70.4545 RPGR 0 genome.wustl.edu 37 X 38132647 38132647 + Frame_Shift_Del DEL T T - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 38132647 38132647 T - DEL RPGR ENST00000339363 human ensembl 74_37 -1 known frame_shift_del c.2848 p.T950fs 0.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 41 0 0 39 8 17.0213 CASK 0 genome.wustl.edu 37 X 41469154 41469159 + Splice_Site DEL TACATC TACATC - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 TACATC TACATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 41469154 41469159 TACATC - DEL CASK ENST00000378163 human ensembl 74_37 -1 known splice_site_del c.1155+4_1155+1 e13-1 1.000:1.000:1.000:1.000:1.000:1.000 - - - no_errors CASK HGNC ENSG00000147044 66 0 0 11 39 78 USP11 0 genome.wustl.edu 37 X 47104300 47104301 + Frame_Shift_Ins INS - - A TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 47104300 47104301 - A INS USP11 ENST00000218348 human ensembl 74_37 +1 known frame_shift_ins c.2192_2193 p.T732fs 0.003:0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 40 0 0 38 9 19.1489 ZMYM3 0 genome.wustl.edu 37 X 70472962 70472963 + Frame_Shift_Ins INS - - G TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 70472962 70472963 - G INS ZMYM3 ENST00000373988 human ensembl 74_37 -1 known frame_shift_ins c.144_143 p.G49fs 0.994:1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 15 0 0 6 5 45.4545 MAGEE2 0 genome.wustl.edu 37 X 75004754 75004754 + Frame_Shift_Del DEL G G - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 75004754 75004754 G - DEL MAGEE2 ENST00000373359 human ensembl 74_37 -1 known frame_shift_del c.133 p.Q45fs 0.008 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 52 0 0 15 17 53.125 TAF9B 0 genome.wustl.edu 37 X 77387116 77387118 + In_Frame_Del DEL ATC ATC - TCGA-CG-5726-01A-11D-1600-08 TCGA-CG-5726-11A-01D-1600-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2f7072be-c58c-4821-a33c-d0717bea6d97 c5dc8974-70d2-4fca-bb42-4ec9091b24ac X 77387116 77387118 ATC - DEL TAF9B ENST00000341864 human ensembl 74_37 -1 known in_frame_del c.747_745 p.D249in_frame_del 0.611:0.996:1.000 NULL pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 169 0 0 39 101 72.1429