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 KIF1B 0 genome.wustl.edu 37 1 10386385 10386385 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 10386385 10386385 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known silent c.2754 p.Y918 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 146 1 0.680272 114 30 20.8333 PGD 0 genome.wustl.edu 37 1 10477532 10477532 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 10477532 10477532 G A SNP PGD ENST00000270776 human ensembl 74_37 +1 known missense c.1075 p.A359T 1.000 pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 203 2 0.97561 122 44 26.506 PSRC1 0 genome.wustl.edu 37 1 109823609 109823609 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 109823609 109823609 G A SNP PSRC1 ENST00000409138 human ensembl 74_37 -1 known missense c.784 p.R262C 0.994 NULL NULL - no_errors PSRC1 HGNC ENSG00000134222 46 0 0 35 9 20.4545 ATXN7L2 0 genome.wustl.edu 37 1 110032913 110032913 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 110032913 110032913 G A SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known silent c.1257 p.R419 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 147 0 0 88 24 21.4286 GNAI3 0 genome.wustl.edu 37 1 110129408 110129408 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 110129408 110129408 A G SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known missense c.778 p.T260A 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,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,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 145 0 0 98 24 19.6721 SLC6A17 0 genome.wustl.edu 37 1 110737297 110737297 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 110737297 110737297 C T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.1396 p.L466F 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_orphan - no_errors SLC6A17 HGNC ENSG00000197106 93 0 0 82 23 21.9048 KCNC4 0 genome.wustl.edu 37 1 110765858 110765858 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 110765858 110765858 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known silent c.951 p.I317 0.980 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,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_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 93 0 0 65 20 23.5294 KCNA2 0 genome.wustl.edu 37 1 111146620 111146620 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 111146620 111146620 G A SNP KCNA2 ENST00000316361 human ensembl 74_37 -1 known missense c.785 p.A262V 1.000 pfam_Ion_trans_dom,prints_K_chnl 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 147 0 0 115 29 20.1389 CHI3L2 0 genome.wustl.edu 37 1 111784915 111784915 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 111784915 111784915 A G SNP CHI3L2 ENST00000369748 human ensembl 74_37 +1 known missense c.1102 p.T368A 0.652 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L2 HGNC ENSG00000064886 274 2 0.724638 197 49 19.9187 MTOR 0 genome.wustl.edu 37 1 11307985 11307985 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 11307985 11307985 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.1007 p.Y336C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 155 0 0 113 42 27.0968 UBIAD1 0 genome.wustl.edu 37 1 11345717 11345717 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 11345717 11345717 C T SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known silent c.546 p.Y182 0.420 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 86 0 0 49 15 23.4375 IGSF3 0 genome.wustl.edu 37 1 117122210 117122210 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 117122210 117122210 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.3198 p.G1066 0.973 smart_Ig_sub,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 IGSF3 HGNC ENSG00000143061 56 0 0 37 14 27.451 IGSF3 0 genome.wustl.edu 37 1 117156664 117156664 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 117156664 117156664 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.555 p.R185 1.000 pfam_Ig_V-set,smart_Ig_sub,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 IGSF3 HGNC ENSG00000143061 98 0 0 77 15 16.3043 SPAG17 0 genome.wustl.edu 37 1 118527387 118527387 + Silent SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 118527387 118527387 T G SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.5688 p.T1896 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 172 0 0 111 21 15.9091 CLCN6 0 genome.wustl.edu 37 1 11889314 11889314 + Missense_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 11889314 11889314 G C SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known missense c.1183 p.V395L 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 276 1 0.361011 215 70 24.5614 WARS2 0 genome.wustl.edu 37 1 119575832 119575832 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 119575832 119575832 A G SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.785 p.V262A 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 173 0 0 112 25 18.2482 NOTCH2 0 genome.wustl.edu 37 1 120462059 120462059 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 120462059 120462059 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.5657 p.R1886H 1.000 pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 87 0 0 67 11 14.1026 VPS13D 0 genome.wustl.edu 37 1 12569099 12569099 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 12569099 12569099 C T SNP VPS13D ENST00000496628 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS13D HGNC ENSG00000048707 140 0 0 102 30 22.7273 AADACL4 0 genome.wustl.edu 37 1 12725975 12725975 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 12725975 12725975 C T SNP AADACL4 ENST00000376221 human ensembl 74_37 +1 known silent c.453 p.Y151 1.000 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 106 0 0 88 16 15.3846 HNRNPCL1 0 genome.wustl.edu 37 1 12907847 12907847 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 12907847 12907847 C T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.296 p.R99Q 0.999 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 257 0 0 213 26 10.8787 PRDM2 0 genome.wustl.edu 37 1 14105507 14105507 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 14105507 14105507 G A SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.1217 p.R406Q 0.994 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 92 0 0 61 22 26.506 PRDM2 0 genome.wustl.edu 37 1 14107336 14107336 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 14107336 14107336 G A SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.3046 p.A1016T 0.004 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 99 0 0 84 20 19.2308 PDE4DIP 0 genome.wustl.edu 37 1 144994711 144994711 + Silent SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 144994711 144994711 A C SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known silent c.21 p.T7 1.000 pfam_Spindle_assoc pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 141 0 0 128 7 5.18519 FMO5 0 genome.wustl.edu 37 1 146696691 146696691 + RNA SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 146696691 146696691 A G SNP FMO5 ENST00000465173 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors FMO5 HGNC ENSG00000131781 93 0 0 87 32 26.8908 BCL9 0 genome.wustl.edu 37 1 147091961 147091961 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 147091961 147091961 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.2000 p.R667H 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 89 0 0 47 14 22.9508 NBPF15 0 genome.wustl.edu 37 1 148594462 148594462 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 148594462 148594462 A G SNP NBPF15 ENST00000369187 human ensembl 74_37 +1 known missense c.1835 p.Y612C 0.001 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF15 HGNC ENSG00000243452 637 0 0 453 128 22.031 BOLA1 0 genome.wustl.edu 37 1 149872116 149872116 + RNA SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 149872116 149872116 G T SNP BOLA1 ENST00000476344 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BOLA1 HGNC ENSG00000178096 21 0 0 13 7 35 PLEKHO1 0 genome.wustl.edu 37 1 150128314 150128314 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 150128314 150128314 T C SNP PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known missense c.232 p.C78R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 233 0 0 128 56 30.4348 SEMA6C 0 genome.wustl.edu 37 1 151109008 151109008 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 151109008 151109008 C T SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.1022 p.R341H 0.589 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,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 266 0 0 204 51 20 HRNR 0 genome.wustl.edu 37 1 152192304 152192304 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 152192304 152192304 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1801 p.G601R 0.004 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 381 1 0.26178 278 89 24.2507 CRNN 0 genome.wustl.edu 37 1 152382676 152382676 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 152382676 152382676 G A SNP CRNN ENST00000271835 human ensembl 74_37 -1 known silent c.882 p.H294 0.001 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 372 0 0 296 89 23.1169 DENND4B 0 genome.wustl.edu 37 1 153910311 153910311 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 153910311 153910311 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1994 p.P665L 0.746 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 183 0 0 135 51 27.4194 ADAR 0 genome.wustl.edu 37 1 154574993 154574993 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 154574993 154574993 T C SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.254 p.K85R 0.995 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 86 0 0 59 21 26.25 TRIM46 0 genome.wustl.edu 37 1 155152112 155152112 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 155152112 155152112 T C SNP TRIM46 ENST00000543729 human ensembl 74_37 +1 known missense c.1349 p.L450P 0.983 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 50 0 0 33 7 17.5 ARHGEF2 0 genome.wustl.edu 37 1 155920909 155920909 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 155920909 155920909 G A SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.2417 p.A806V 0.910 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 15 0 0 17 4 19.0476 MEX3A 0 genome.wustl.edu 37 1 156047125 156047125 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 156047125 156047125 A G SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.803 p.F268S 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 36 0 0 30 16 34.7826 HAPLN2 0 genome.wustl.edu 37 1 156593354 156593354 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 156593354 156593354 C A SNP HAPLN2 ENST00000255039 human ensembl 74_37 +1 known silent c.72 p.A24 0.084 NULL pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN2 HGNC ENSG00000132702 34 0 0 18 7 28 ARHGEF11 0 genome.wustl.edu 37 1 156917127 156917127 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 156917127 156917127 G A SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known silent c.2457 p.F819 0.994 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 133 1 0.746269 90 24 21.0526 FCRL3 0 genome.wustl.edu 37 1 157665908 157665908 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 157665908 157665908 C T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1054 p.D352N 0.007 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 157 0 0 98 18 15.5172 KIRREL 0 genome.wustl.edu 37 1 158061243 158061243 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 158061243 158061243 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known silent c.1416 p.L472 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 135 0 0 97 33 25.3846 DNAJC16 0 genome.wustl.edu 37 1 15892742 15892742 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 15892742 15892742 C T SNP DNAJC16 ENST00000479655 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DNAJC16 HGNC ENSG00000116138 16 0 0 9 4 30.7692 SLAMF8 0 genome.wustl.edu 37 1 159796723 159796723 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 159796723 159796723 G T SNP SLAMF8 ENST00000289707 human ensembl 74_37 +1 known missense c.35 p.W12L 1.000 NULL pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 96 0 0 70 17 19.5402 SLAMF8 0 genome.wustl.edu 37 1 159799686 159799686 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 159799686 159799686 A G SNP SLAMF8 ENST00000289707 human ensembl 74_37 +1 known missense c.71 p.Q24R 0.951 NULL pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 229 0 0 154 60 28.0374 CCDC19 0 genome.wustl.edu 37 1 159842872 159842872 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 159842872 159842872 C T SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.1439 p.R480H 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 86 0 0 69 23 25 TAGLN2 0 genome.wustl.edu 37 1 159889527 159889527 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 159889527 159889527 G A SNP TAGLN2 ENST00000368096 human ensembl 74_37 -1 known silent c.342 p.I114 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN2 HGNC ENSG00000158710 357 0 0 275 65 19.1176 IGSF9 0 genome.wustl.edu 37 1 159901412 159901412 + RNA SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 159901412 159901412 G T SNP IGSF9 ENST00000496645 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors IGSF9 HGNC ENSG00000085552 47 0 0 37 12 24.4898 IGSF9 0 genome.wustl.edu 37 1 159912853 159912853 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 159912853 159912853 C T SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known silent c.147 p.R49 0.969 smart_Ig_sub,smart_Ig_sub2,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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 22 0 0 16 8 33.3333 ATP1A2 0 genome.wustl.edu 37 1 160091015 160091015 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 160091015 160091015 C T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.151 p.R51C 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,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 ATP1A2 HGNC ENSG00000018625 302 0 0 267 64 19.3353 TMEM82 0 genome.wustl.edu 37 1 16071011 16071011 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 16071011 16071011 G A SNP TMEM82 ENST00000375782 human ensembl 74_37 +1 known silent c.693 p.S231 0.632 NULL NULL - no_errors TMEM82 HGNC ENSG00000162460 20 0 0 16 5 23.8095 ADAMTS4 0 genome.wustl.edu 37 1 161163532 161163532 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 161163532 161163532 G T SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known silent c.1633 p.R545 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS 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_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 139 0 0 106 35 24.8227 SDHC 0 genome.wustl.edu 37 1 161298208 161298208 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 161298208 161298208 G A SNP SDHC ENST00000367975 human ensembl 74_37 +1 known missense c.100 p.A34T 1.000 pirsf_Succ_DH_cytb560 pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556 - no_errors SDHC HGNC ENSG00000143252 260 0 0 168 44 20.7547 FCGR2B 0 genome.wustl.edu 37 1 161642933 161642933 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 161642933 161642933 A G SNP FCGR2B ENST00000358671 human ensembl 74_37 +1 known missense c.560 p.N187S 0.283 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2B HGNC ENSG00000072694 60 0 0 41 10 19.6078 OLFML2B 0 genome.wustl.edu 37 1 161969979 161969979 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 161969979 161969979 G T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known silent c.873 p.S291 1.000 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 102 0 0 65 18 21.6867 CLCNKB 0 genome.wustl.edu 37 1 16377497 16377497 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 16377497 16377497 C T SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.1181 p.P394L 0.999 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 98 0 0 62 17 21.519 DUSP27 0 genome.wustl.edu 37 1 167097443 167097443 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 167097443 167097443 G A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known silent c.3075 p.T1025 0.105 NULL 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,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 105 0 0 78 18 18.75 GPR161 0 genome.wustl.edu 37 1 168059836 168059836 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 168059836 168059836 C T SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known silent c.1230 p.T410 0.025 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 32 0 0 20 6 23.0769 TBX19 0 genome.wustl.edu 37 1 168262443 168262443 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 168262443 168262443 C T SNP TBX19 ENST00000367821 human ensembl 74_37 +1 known missense c.530 p.A177V 0.938 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC ENSG00000143178 133 0 0 86 24 21.8182 XCL1 0 genome.wustl.edu 37 1 168550351 168550351 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 168550351 168550351 G A SNP XCL1 ENST00000367818 human ensembl 74_37 +1 known missense c.238 p.V80M 0.018 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_XCL1 - no_errors XCL1 HGNC ENSG00000143184 102 0 0 70 23 24.7312 FMO1 0 genome.wustl.edu 37 1 171254496 171254496 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 171254496 171254496 A G SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known missense c.1412 p.Y471C 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 153 0 0 147 34 18.7845 SUCO 0 genome.wustl.edu 37 1 172520731 172520731 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 172520731 172520731 G A SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.730 p.A244T 0.540 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 95 0 0 50 16 24.2424 SUCO 0 genome.wustl.edu 37 1 172558904 172558904 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 172558904 172558904 A G SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.3119 p.Y1040C 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 274 0 0 217 45 17.1756 ATP13A2 0 genome.wustl.edu 37 1 17331318 17331318 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 17331318 17331318 T C SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known splice_site c.348-2 e5-2 1.000 - - - no_errors ATP13A2 HGNC ENSG00000159363 98 0 0 82 16 16.3265 SERPINC1 0 genome.wustl.edu 37 1 173883880 173883880 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 173883880 173883880 C T SNP SERPINC1 ENST00000367698 human ensembl 74_37 -1 known silent c.219 p.P73 0.001 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC ENSG00000117601 259 0 0 209 64 23.4432 GPR52 0 genome.wustl.edu 37 1 174417662 174417662 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 174417662 174417662 A G SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known missense c.413 p.D138G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 425 1 0.234742 327 115 26.0181 TNN 0 genome.wustl.edu 37 1 175067522 175067522 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 175067522 175067522 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1910 p.T637M 0.745 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 129 0 0 88 30 25.4237 TNN 0 genome.wustl.edu 37 1 175096130 175096130 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 175096130 175096130 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2954 p.T985M 0.012 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 100 0 0 107 24 18.3206 RASAL2 0 genome.wustl.edu 37 1 178421675 178421675 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 178421675 178421675 G A SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.1897 p.A633T 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 359 0 0 315 83 20.8543 ABL2 0 genome.wustl.edu 37 1 179078139 179078139 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 179078139 179078139 G A SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.2263 p.R755C 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 99 0 0 65 20 23.5294 TOR1AIP1 0 genome.wustl.edu 37 1 179887298 179887298 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 179887298 179887298 G A SNP TOR1AIP1 ENST00000528443 human ensembl 74_37 +1 known missense c.1679 p.G560D 1.000 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 114 0 0 83 31 27.193 LHX4 0 genome.wustl.edu 37 1 180241138 180241138 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 180241138 180241138 C T SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known nonsense c.775 p.R259* 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 LHX4 HGNC ENSG00000121454 45 0 0 45 10 18.1818 LAMC2 0 genome.wustl.edu 37 1 183212369 183212369 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 183212369 183212369 G A SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.3416 p.R1139Q 1.000 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 150 0 0 113 41 26.6234 NCF2 0 genome.wustl.edu 37 1 183538297 183538297 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 183538297 183538297 C T SNP NCF2 ENST00000367535 human ensembl 74_37 -1 known silent c.693 p.P231 0.998 superfamily_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_TPR_1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 314 0 0 205 65 24.0741 IGSF21 0 genome.wustl.edu 37 1 18661444 18661444 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 18661444 18661444 G A SNP IGSF21 ENST00000251296 human ensembl 74_37 +1 known missense c.364 p.D122N 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 36 13 26.5306 IGSF21 0 genome.wustl.edu 37 1 18691970 18691970 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 18691970 18691970 T C SNP IGSF21 ENST00000251296 human ensembl 74_37 +1 known missense c.794 p.I265T 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF21 HGNC ENSG00000117154 212 0 0 126 35 21.7391 RGS1 0 genome.wustl.edu 37 1 192545493 192545493 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 192545493 192545493 T C SNP RGS1 ENST00000367459 human ensembl 74_37 +1 known silent c.216 p.D72 0.860 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 RGS1 HGNC ENSG00000090104 117 0 0 93 30 24.3902 EMC1 0 genome.wustl.edu 37 1 19549974 19549974 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 19549974 19549974 G A SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known silent c.2292 p.G764 0.010 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 239 0 0 151 60 28.436 PTPRC 0 genome.wustl.edu 37 1 198711039 198711039 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 198711039 198711039 G A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.2445 p.Q815 1.000 pirsf_Leukocyte_common_ag,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 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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 - no_errors PTPRC HGNC ENSG00000081237 59 0 0 54 11 16.9231 MIR181A1 0 genome.wustl.edu 37 1 198828243 198828243 + RNA SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 198828243 198828243 C A SNP MIR181A1 ENST00000385026 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR181A1 HGNC ENSG00000207759 262 0 0 182 51 21.8884 NAV1 0 genome.wustl.edu 37 1 201779831 201779831 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 201779831 201779831 G A SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.4742 p.R1581H 0.998 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 54 0 0 25 7 21.875 TIMM17A 0 genome.wustl.edu 37 1 201926647 201926647 + Missense_Mutation SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 201926647 201926647 C G SNP TIMM17A ENST00000367287 human ensembl 74_37 +1 known missense c.135 p.N45K 1.000 pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17 pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17 - no_errors TIMM17A HGNC ENSG00000134375 124 0 0 93 21 18.4211 KDM5B 0 genome.wustl.edu 37 1 202710666 202710666 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 202710666 202710666 T G SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.2882 p.Q961P 0.992 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 110 0 0 83 24 22.4299 ATP2B4 0 genome.wustl.edu 37 1 203693073 203693073 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 203693073 203693073 T C SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.3089 p.L1030P 0.987 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma 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 ATP2B4 HGNC ENSG00000058668 158 0 0 100 23 18.6992 ZC3H11A 0 genome.wustl.edu 37 1 203821512 203821512 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 203821512 203821512 A G SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known silent c.2418 p.E806 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 80 0 0 48 12 20 SOX13 0 genome.wustl.edu 37 1 204091075 204091075 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 204091075 204091075 A G SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known missense c.823 p.K275E 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 22 0 0 21 7 25 CR2 0 genome.wustl.edu 37 1 207644832 207644832 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 207644832 207644832 C T SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.1558 p.R520C 0.993 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 224 0 0 186 55 22.8216 LAMB3 0 genome.wustl.edu 37 1 209797343 209797343 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 209797343 209797343 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.1979 p.R660Q 0.039 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 137 0 0 72 26 26.5306 IRF6 0 genome.wustl.edu 37 1 209963054 209963054 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 209963054 209963054 C T SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known nonsense c.1137 p.W379* 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 149 0 0 104 22 17.4603 KIF17 0 genome.wustl.edu 37 1 21042044 21042044 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 21042044 21042044 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.320 p.P107L 0.349 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_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 KIF17 HGNC ENSG00000117245 88 0 0 67 14 17.284 PPP2R5A 0 genome.wustl.edu 37 1 212532095 212532095 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 212532095 212532095 G A SNP PPP2R5A ENST00000261461 human ensembl 74_37 +1 known missense c.1294 p.D432N 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC ENSG00000066027 171 0 0 125 39 23.7805 MARK1 0 genome.wustl.edu 37 1 220835431 220835431 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 220835431 220835431 C T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.2311 p.R771C 1.000 pfam_KA1_dom,superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 165 0 0 88 29 24.7863 HSPG2 0 genome.wustl.edu 37 1 22150206 22150206 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 22150206 22150206 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.12906 p.G4302 0.984 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 78 0 0 52 20 27.7778 HHIPL2 0 genome.wustl.edu 37 1 222716949 222716949 + Nonsense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 222716949 222716949 C A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known nonsense c.904 p.E302* 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 599 0 0 468 119 20.2726 FAM177B 0 genome.wustl.edu 37 1 222922880 222922880 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 222922880 222922880 C T SNP FAM177B ENST00000360827 human ensembl 74_37 +1 known silent c.315 p.N105 0.007 NULL NULL - no_errors FAM177B HGNC ENSG00000197520 133 0 0 109 22 16.7939 H3F3A 0 genome.wustl.edu 37 1 226259158 226259158 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 226259158 226259158 G A SNP H3F3A ENST00000366813 human ensembl 74_37 +1 known missense c.389 p.R130H 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC ENSG00000163041 33 0 0 21 9 30 ITPKB 0 genome.wustl.edu 37 1 226924312 226924312 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 226924312 226924312 G A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.848 p.P283L 0.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 110 0 0 79 33 29.4643 GJC2 0 genome.wustl.edu 37 1 228345575 228345575 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 228345575 228345575 C T SNP GJC2 ENST00000366714 human ensembl 74_37 +1 known missense c.116 p.T39M 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 20 0 0 17 7 29.1667 OBSCN 0 genome.wustl.edu 37 1 228466411 228466411 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 228466411 228466411 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.6881 p.R2294H 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom 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 57 0 0 36 12 25 OBSCN 0 genome.wustl.edu 37 1 228480371 228480371 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 228480371 228480371 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.10751 p.L3584P 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 157 0 0 107 48 30.9677 OBSCN 0 genome.wustl.edu 37 1 228505745 228505745 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 228505745 228505745 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.14002 p.R4668W 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 105 0 0 63 16 20.2532 OBSCN 0 genome.wustl.edu 37 1 228548354 228548354 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 228548354 228548354 C A SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known silent c.11118 p.T3706 0.834 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,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,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 26 0 0 28 10 26.3158 NUP133 0 genome.wustl.edu 37 1 229606455 229606455 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 229606455 229606455 C T SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.1948 p.A650T 0.992 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 86 0 0 80 19 19.1919 MORN1 0 genome.wustl.edu 37 1 2318864 2318864 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 2318864 2318864 G A SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known missense c.352 p.R118W 0.305 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 143 0 0 116 14 10.7692 SIPA1L2 0 genome.wustl.edu 37 1 232650507 232650507 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 232650507 232650507 T C SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.579 p.G193 0.968 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 246 0 0 187 58 23.6735 KCNK1 0 genome.wustl.edu 37 1 233802452 233802452 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 233802452 233802452 T C SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known missense c.467 p.I156T 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 75 0 0 39 14 26.4151 NID1 0 genome.wustl.edu 37 1 236189283 236189283 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 236189283 236189283 G T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1897 p.L633I 1.000 superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F 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 274 0 0 210 51 19.5402 GPR137B 0 genome.wustl.edu 37 1 236371377 236371377 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 236371377 236371377 A G SNP GPR137B ENST00000366592 human ensembl 74_37 +1 known silent c.1119 p.G373 0.998 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 119 0 0 95 18 15.9292 HEATR1 0 genome.wustl.edu 37 1 236719118 236719118 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 236719118 236719118 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5636 p.A1879V 1.000 pfam_BP28_C_dom,superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 265 0 0 182 72 28.3465 HEATR1 0 genome.wustl.edu 37 1 236721561 236721561 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 236721561 236721561 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5180 p.A1727V 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 140 0 0 113 31 21.5278 ACTN2 0 genome.wustl.edu 37 1 236925802 236925802 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 236925802 236925802 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known silent c.2568 p.P856 0.035 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 98 0 0 72 17 19.1011 FMN2 0 genome.wustl.edu 37 1 240255930 240255930 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 240255930 240255930 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.521 p.R174M 1.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 62 0 0 31 5 13.8889 FMN2 0 genome.wustl.edu 37 1 240370992 240370992 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 240370992 240370992 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.2880 p.P960 0.001 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 29 0 0 32 6 15.7895 CEP170 0 genome.wustl.edu 37 1 243289821 243289821 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 243289821 243289821 G A SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.4685 p.A1562V 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 36 0 0 18 7 28 PANK4 0 genome.wustl.edu 37 1 2440356 2440356 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 2440356 2440356 G A SNP PANK4 ENST00000378466 human ensembl 74_37 -1 known missense c.2252 p.A751V 1.000 pfam_DUF89,superfamily_DUF89,pirsf_PanK_long pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 19 0 0 12 5 29.4118 KIF26B 0 genome.wustl.edu 37 1 245849899 245849899 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 245849899 245849899 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3614 p.G1205D 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 KIF26B HGNC ENSG00000162849 16 0 0 16 7 30.4348 TFB2M 0 genome.wustl.edu 37 1 246729434 246729434 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 246729434 246729434 T A SNP TFB2M ENST00000366514 human ensembl 74_37 -1 known missense c.7 p.I3F 0.461 pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC ENSG00000162851 48 0 0 39 10 20.4082 CNST 0 genome.wustl.edu 37 1 246823624 246823624 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 246823624 246823624 A G SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.1960 p.S654G 0.010 NULL NULL - no_errors CNST HGNC ENSG00000162852 175 0 0 129 50 27.933 OR6F1 0 genome.wustl.edu 37 1 247875954 247875954 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 247875954 247875954 T C SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.104 p.Y35C 0.814 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 209 0 0 147 46 23.8342 SMPDL3B 0 genome.wustl.edu 37 1 28285220 28285220 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 28285220 28285220 C T SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known silent c.1239 p.H413 0.817 pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 149 0 0 107 26 19.5489 ACTRT2 0 genome.wustl.edu 37 1 2939367 2939367 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 2939367 2939367 C A SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.1117 p.Q373K 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 209 0 0 143 35 19.6629 MATN1 0 genome.wustl.edu 37 1 31187163 31187163 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 31187163 31187163 A G SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.1372 p.C458R 0.998 pfam_Matrilin_coiled-coil_trimer pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 17 0 0 13 3 18.75 BSDC1 0 genome.wustl.edu 37 1 32834083 32834083 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 32834083 32834083 G A SNP BSDC1 ENST00000341071 human ensembl 74_37 -1 known nonsense c.1276 p.Q426* 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 87 0 0 62 21 25.3012 S100PBP 0 genome.wustl.edu 37 1 33292032 33292032 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 33292032 33292032 C A SNP S100PBP ENST00000373475 human ensembl 74_37 +1 known missense c.332 p.P111H 0.915 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 121 0 0 94 36 27.6923 MEGF6 0 genome.wustl.edu 37 1 3410383 3410383 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 3410383 3410383 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.4339 p.G1447S 0.997 smart_EG-like_dom,smart_EGF_laminin 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 22 0 0 15 4 21.0526 MEGF6 0 genome.wustl.edu 37 1 3417655 3417655 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 3417655 3417655 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.2450 p.C817Y 1.000 smart_EGF_laminin 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 69 0 0 45 11 19.6429 MEGF6 0 genome.wustl.edu 37 1 3421847 3421847 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 3421847 3421847 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.2113 p.V705M 0.998 smart_EG-like_dom,smart_EGF_laminin 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 32 0 0 33 7 17.5 THRAP3 0 genome.wustl.edu 37 1 36755130 36755130 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 36755130 36755130 C T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.1510 p.R504W 0.999 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 179 0 0 130 36 21.6867 OSCP1 0 genome.wustl.edu 37 1 36883724 36883724 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 36883724 36883724 C T SNP OSCP1 ENST00000471369 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OSCP1 HGNC ENSG00000116885 46 0 0 36 6 14.2857 SF3A3 0 genome.wustl.edu 37 1 38444662 38444662 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 38444662 38444662 G A SNP SF3A3 ENST00000373019 human ensembl 74_37 -1 known silent c.825 p.G275 0.976 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC ENSG00000183431 110 0 0 76 21 21.6495 MACF1 0 genome.wustl.edu 37 1 39751055 39751055 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 39751055 39751055 T C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.1361 p.L454P 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 93 0 0 80 24 23.0769 MACF1 0 genome.wustl.edu 37 1 39758498 39758498 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 39758498 39758498 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.1990 p.Q664* 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 64 0 0 51 12 19.0476 BMP8B 0 genome.wustl.edu 37 1 40230521 40230521 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 40230521 40230521 G A SNP BMP8B ENST00000397360 human ensembl 74_37 -1 known missense c.833 p.P278L 0.000 NULL pfam_TGF-b_N - no_errors BMP8B HGNC ENSG00000116985 58 0 0 54 12 18.1818 HIVEP3 0 genome.wustl.edu 37 1 42049096 42049096 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 42049096 42049096 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1373 p.R458Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 94 0 0 53 14 20.8955 CLDN19 0 genome.wustl.edu 37 1 43205659 43205659 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 43205659 43205659 C T SNP CLDN19 ENST00000296387 human ensembl 74_37 -1 known missense c.76 p.A26T 0.994 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN19 HGNC ENSG00000164007 15 0 0 2 3 60 WDR65 0 genome.wustl.edu 37 1 43675514 43675514 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 43675514 43675514 G A SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known missense c.1856 p.R619H 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 148 0 0 108 34 23.9437 CDC20 0 genome.wustl.edu 37 1 43828733 43828733 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 43828733 43828733 C T SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known missense c.1433 p.A478V 0.604 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 109 0 0 78 28 26.4151 HPDL 0 genome.wustl.edu 37 1 45793679 45793679 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 45793679 45793679 T C SNP HPDL ENST00000334815 human ensembl 74_37 +1 known missense c.859 p.Y287H 0.998 pirsf_4OHPhenylPyrv_dOase pirsf_4OHPhenylPyrv_dOase - no_errors HPDL HGNC ENSG00000186603 102 0 0 79 21 21 IPP 0 genome.wustl.edu 37 1 46193312 46193312 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 46193312 46193312 C T SNP IPP ENST00000396478 human ensembl 74_37 -1 known missense c.1039 p.A347T 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 IPP HGNC ENSG00000197429 204 0 0 162 44 21.3592 MAST2 0 genome.wustl.edu 37 1 46500323 46500323 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 46500323 46500323 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.3982 p.R1328C 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 102 0 0 75 23 23.4694 ORC1 0 genome.wustl.edu 37 1 52859407 52859407 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 52859407 52859407 G A SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known missense c.790 p.R264W 0.290 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 113 0 0 95 24 20.1681 C1orf87 0 genome.wustl.edu 37 1 60491079 60491079 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 60491079 60491079 T C SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known missense c.1121 p.E374G 1.000 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 166 0 0 99 29 22.6562 L1TD1 0 genome.wustl.edu 37 1 62676034 62676034 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 62676034 62676034 C T SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known missense c.1588 p.H530Y 0.000 pfam_Transposase_22 pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 82 0 0 64 14 17.9487 PLEKHG5 0 genome.wustl.edu 37 1 6530390 6530390 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 6530390 6530390 T C SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1943 p.D648G 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 61 0 0 36 19 34.5455 LEPR 0 genome.wustl.edu 37 1 66085623 66085623 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 66085623 66085623 C A SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.2408 p.P803H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 148 0 0 97 21 17.7966 WLS 0 genome.wustl.edu 37 1 68603590 68603590 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 68603590 68603590 G A SNP WLS ENST00000540432 human ensembl 74_37 -1 known silent c.1389 p.G463 0.026 NULL NULL - no_errors WLS HGNC ENSG00000116729 125 0 0 85 41 32.5397 LRRC7 0 genome.wustl.edu 37 1 70493956 70493956 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 70493956 70493956 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1783 p.R595C 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 124 0 0 70 23 24.7312 LRRIQ3 0 genome.wustl.edu 37 1 74649222 74649222 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 74649222 74649222 G A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known silent c.147 p.C49 0.998 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 128 0 0 117 10 7.87402 AK5 0 genome.wustl.edu 37 1 77752792 77752792 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 77752792 77752792 G A SNP AK5 ENST00000354567 human ensembl 74_37 +1 known missense c.227 p.R76Q 1.000 NULL pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 109 0 0 97 29 23.0159 NEXN 0 genome.wustl.edu 37 1 78383873 78383873 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 78383873 78383873 C T SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.362 p.T121M 0.854 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 125 0 0 119 32 21.1921 SLC45A1 0 genome.wustl.edu 37 1 8390770 8390770 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 8390770 8390770 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.1319 p.R440Q 0.992 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 49 0 0 30 18 37.5 SSX2IP 0 genome.wustl.edu 37 1 85136475 85136475 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 85136475 85136475 T C SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known missense c.67 p.T23A 1.000 NULL pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 349 0 0 290 65 18.3099 MCOLN2 0 genome.wustl.edu 37 1 85431290 85431290 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 85431290 85431290 C T SNP MCOLN2 ENST00000370608 human ensembl 74_37 -1 known missense c.179 p.R60H 0.575 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 138 0 0 104 20 16.129 COL24A1 0 genome.wustl.edu 37 1 86249817 86249817 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 86249817 86249817 G T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.4200 p.F1400L 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 167 0 0 118 36 23.3766 RERE 0 genome.wustl.edu 37 1 8684392 8684392 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 8684392 8684392 A G SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.373 p.C125R 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom 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 246 0 0 183 39 17.5676 CLCA4 0 genome.wustl.edu 37 1 87029383 87029383 + Missense_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 87029383 87029383 G C SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.488 p.G163A 1.000 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 90 0 0 90 24 21.0526 NOC2L 0 genome.wustl.edu 37 1 886561 886561 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 886561 886561 C T SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known silent c.1389 p.T463 0.206 pfam_Noc2,superfamily_ARM-type_fold pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 12 0 0 9 3 25 LRRC8B 0 genome.wustl.edu 37 1 90048284 90048284 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 90048284 90048284 C T SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known silent c.75 p.D25 0.959 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 325 0 0 243 49 16.7808 ZNF326 0 genome.wustl.edu 37 1 90473107 90473107 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 90473107 90473107 G A SNP ZNF326 ENST00000340281 human ensembl 74_37 +1 known missense c.413 p.R138H 1.000 NULL pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 187 0 0 162 45 21.7391 HFM1 0 genome.wustl.edu 37 1 91781412 91781412 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 91781412 91781412 C T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.3100 p.G1034S 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 126 0 0 97 27 21.7742 HFM1 0 genome.wustl.edu 37 1 91843716 91843716 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 91843716 91843716 G A SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.1261 p.R421C 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 130 0 0 90 30 25 BRDT 0 genome.wustl.edu 37 1 92443769 92443769 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 92443769 92443769 G A SNP BRDT ENST00000362005 human ensembl 74_37 +1 known silent c.1014 p.A338 0.988 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 142 1 0.699301 110 32 22.5352 BTBD8 0 genome.wustl.edu 37 1 92595319 92595319 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 92595319 92595319 C T SNP BTBD8 ENST00000342818 human ensembl 74_37 +1 known silent c.738 p.Y246 0.002 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 127 1 0.78125 94 24 20.339 ABCA4 0 genome.wustl.edu 37 1 94495142 94495142 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 94495142 94495142 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known silent c.4398 p.V1466 0.996 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 53 0 0 40 6 13.0435 C1orf200 0 genome.wustl.edu 37 1 9714277 9714277 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 9714277 9714277 G A SNP C1orf200 ENST00000377320 human ensembl 74_37 -1 known missense c.218 p.A73V 0.001 NULL NULL - no_errors C1orf200 HGNC ENSG00000179840 49 0 0 29 3 9.375 PIK3CD 0 genome.wustl.edu 37 1 9784903 9784903 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 9784903 9784903 G A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.2978 p.R993H 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 111 0 0 99 23 18.8525 SLC25A28 0 genome.wustl.edu 37 10 101370949 101370949 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 101370949 101370949 T G SNP SLC25A28 ENST00000370495 human ensembl 74_37 -1 known missense c.752 p.E251A 1.000 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 SLC25A28 HGNC ENSG00000155287 133 0 0 106 29 21.4815 ENTPD7 0 genome.wustl.edu 37 10 101455831 101455831 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 101455831 101455831 G A SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.962 p.R321Q 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 169 0 0 115 38 24.8366 PKD2L1 0 genome.wustl.edu 37 10 102054754 102054754 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 102054754 102054754 C T SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known missense c.1483 p.G495S 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 101 1 0.980392 64 29 31.1828 GBF1 0 genome.wustl.edu 37 10 104128078 104128078 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 104128078 104128078 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known silent c.2743 p.L915 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 197 0 0 133 41 23.5632 ITPRIP 0 genome.wustl.edu 37 10 106074825 106074825 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 106074825 106074825 C T SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known missense c.985 p.D329N 1.000 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 175 0 0 121 25 17.1233 SORCS1 0 genome.wustl.edu 37 10 108448006 108448006 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 108448006 108448006 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1504 p.R502C 0.997 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 183 0 0 135 28 17.1779 WDR37 0 genome.wustl.edu 37 10 1126020 1126020 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 1126020 1126020 T C SNP WDR37 ENST00000263150 human ensembl 74_37 +1 known missense c.305 p.L102P 1.000 NULL 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 WDR37 HGNC ENSG00000047056 64 0 0 58 10 14.7059 TCF7L2 0 genome.wustl.edu 37 10 114911564 114911564 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 114911564 114911564 T G SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.1082 p.M361R 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 83 0 0 85 27 24.1071 FAM160B1 0 genome.wustl.edu 37 10 116602749 116602749 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 116602749 116602749 T C SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known silent c.580 p.L194 0.004 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 115 0 0 102 14 12.069 FAM160B1 0 genome.wustl.edu 37 10 116606441 116606441 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 116606441 116606441 C T SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.1522 p.P508S 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 152 0 0 105 19 15.3226 HSPA12A 0 genome.wustl.edu 37 10 118441370 118441370 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 118441370 118441370 C T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.854 p.R285H 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 77 0 0 76 25 24.7525 PDZD8 0 genome.wustl.edu 37 10 119042787 119042787 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 119042787 119042787 A G SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.3457 p.S1153P 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 180 0 0 119 40 25.1572 PRLHR 0 genome.wustl.edu 37 10 120354444 120354444 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 120354444 120354444 A G SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.313 p.S105P 1.000 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_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 56 0 0 62 6 8.82353 INPP5F 0 genome.wustl.edu 37 10 121586928 121586928 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 121586928 121586928 C T SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.3035 p.S1012L 0.999 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 260 0 0 161 35 17.8571 DHTKD1 0 genome.wustl.edu 37 10 12162823 12162823 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 12162823 12162823 C A SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.2696 p.A899D 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 77 0 0 49 14 22.2222 FGFR2 0 genome.wustl.edu 37 10 123353418 123353418 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 123353418 123353418 C T SNP FGFR2 ENST00000490349 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors FGFR2 HGNC ENSG00000066468 28 0 0 18 10 35.7143 DMBT1 0 genome.wustl.edu 37 10 124331836 124331836 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 124331836 124331836 C T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.194 p.P65L 0.000 NULL pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 214 0 0 167 64 27.7056 ADAM12 0 genome.wustl.edu 37 10 127730759 127730759 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 127730759 127730759 C A SNP ADAM12 ENST00000368676 human ensembl 74_37 -1 known missense c.2159 p.G720V 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ENSG00000148848 87 0 0 62 9 12.6761 DOCK1 0 genome.wustl.edu 37 10 129160405 129160405 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 129160405 129160405 C T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.3298 p.R1100C 0.986 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 47 0 0 38 7 15.5556 MCM10 0 genome.wustl.edu 37 10 13240764 13240764 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 13240764 13240764 A G SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.2198 p.K733R 1.000 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 72 0 0 59 20 25.3165 PPP2R2D 0 genome.wustl.edu 37 10 133769302 133769302 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 133769302 133769302 A C SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known missense c.1104 p.K368N 0.992 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 64 0 0 57 19 25 BEND7 0 genome.wustl.edu 37 10 13523008 13523008 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 13523008 13523008 C T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known silent c.954 p.A318 0.570 pfam_BEN_domain pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 268 0 0 193 56 22.49 FAM107B 0 genome.wustl.edu 37 10 14816491 14816491 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 14816491 14816491 C T SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known missense c.172 p.A58T 0.953 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 157 0 0 119 32 21.1921 CUBN 0 genome.wustl.edu 37 10 16992003 16992003 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 16992003 16992003 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known nonsense c.5077 p.R1693* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 49 0 0 32 9 21.9512 CUBN 0 genome.wustl.edu 37 10 17026127 17026127 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 17026127 17026127 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.4502 p.A1501V 0.801 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 245 0 0 183 52 22.1277 CUBN 0 genome.wustl.edu 37 10 17152969 17152969 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 17152969 17152969 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.964 p.V322I 0.996 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 95 0 0 72 29 28.7129 GPR158 0 genome.wustl.edu 37 10 25701295 25701295 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 25701295 25701295 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.1228 p.V410I 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 348 0 0 245 83 25.3049 GPR158 0 genome.wustl.edu 37 10 25887671 25887671 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 25887671 25887671 A C SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3116 p.N1039T 0.873 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 163 1 0.609756 104 39 27.2727 ACBD5 0 genome.wustl.edu 37 10 27512289 27512289 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 27512289 27512289 G A SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known silent c.462 p.G154 0.990 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 150 0 0 109 24 18.0451 ARMC4P1 0 genome.wustl.edu 37 10 27551918 27551918 + RNA SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 27551918 27551918 G T SNP ARMC4P1 ENST00000576034 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARMC4P1 HGNC ENSG00000238021 35 0 0 28 11 28.2051 MKX 0 genome.wustl.edu 37 10 28030368 28030368 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 28030368 28030368 A G SNP MKX ENST00000375790 human ensembl 74_37 -1 known missense c.254 p.L85P 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MKX HGNC ENSG00000150051 114 1 0.869565 89 18 16.8224 MKX 0 genome.wustl.edu 37 10 28030415 28030415 + Silent SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 28030415 28030415 C G SNP MKX ENST00000375790 human ensembl 74_37 -1 known silent c.207 p.G69 0.959 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MKX HGNC ENSG00000150051 86 0 0 67 16 19.2771 SVIL 0 genome.wustl.edu 37 10 29777554 29777554 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 29777554 29777554 T C SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.4324 p.R1442G 1.000 smart_Villin/Gelsolin 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 37 0 0 28 9 24.3243 SVIL 0 genome.wustl.edu 37 10 29788162 29788162 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 29788162 29788162 T C SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.3547 p.T1183A 1.000 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 117 0 0 95 17 15.1786 KIAA1462 0 genome.wustl.edu 37 10 30336508 30336508 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 30336508 30336508 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known silent c.234 p.G78 0.024 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 78 0 0 85 23 21.2963 ZNF33A 0 genome.wustl.edu 37 10 38345312 38345312 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 38345312 38345312 T C SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.2278 p.C760R 0.974 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 ZNF33A HGNC ENSG00000189180 183 0 0 148 43 22.5131 RBP3 0 genome.wustl.edu 37 10 48389993 48389993 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 48389993 48389993 C T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.885 p.T295 0.035 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 51 0 0 26 13 33.3333 DKK1 0 genome.wustl.edu 37 10 54074424 54074424 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 54074424 54074424 T C SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.230 p.I77T 0.022 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 72 0 0 63 23 26.7442 NET1 0 genome.wustl.edu 37 10 5493800 5493800 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 5493800 5493800 G T SNP NET1 ENST00000355029 human ensembl 74_37 +1 known missense c.263 p.S88I 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 331 0 0 249 61 19.6774 NET1 0 genome.wustl.edu 37 10 5494448 5494448 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 5494448 5494448 T C SNP NET1 ENST00000355029 human ensembl 74_37 +1 known missense c.491 p.M164T 0.998 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 66 0 0 38 16 29.6296 PCDH15 0 genome.wustl.edu 37 10 55912943 55912943 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 55912943 55912943 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.1701 p.I567 0.991 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 133 0 0 86 31 26.4957 FAM208B 0 genome.wustl.edu 37 10 5791573 5791573 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 5791573 5791573 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.6189 p.L2063 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 198 0 0 147 39 20.9677 ANK3 0 genome.wustl.edu 37 10 61846456 61846456 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 61846456 61846456 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.3727 p.R1243C 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 129 0 0 90 37 29.1339 EGR2 0 genome.wustl.edu 37 10 64573060 64573060 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 64573060 64573060 G A SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.1338 p.G446 0.480 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 100 0 0 79 21 21 HKDC1 0 genome.wustl.edu 37 10 71010120 71010120 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 71010120 71010120 C T SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.1645 p.R549W 0.624 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 222 0 0 168 56 25 ADAMTS14 0 genome.wustl.edu 37 10 72462119 72462119 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 72462119 72462119 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.574 p.R192W 0.972 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,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 ADAMTS14 HGNC ENSG00000138316 128 1 0.775194 71 30 29.703 SGPL1 0 genome.wustl.edu 37 10 72633180 72633180 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 72633180 72633180 G A SNP SGPL1 ENST00000373202 human ensembl 74_37 +1 known missense c.1132 p.V378I 0.986 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SGPL1 HGNC ENSG00000166224 299 0 0 194 61 23.9216 CDH23 0 genome.wustl.edu 37 10 73375330 73375330 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 73375330 73375330 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.1037 p.R346Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 52 0 0 50 10 16.6667 MYOZ1 0 genome.wustl.edu 37 10 75394429 75394429 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 75394429 75394429 G T SNP MYOZ1 ENST00000359322 human ensembl 74_37 -1 known missense c.315 p.F105L 0.999 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ1 HGNC ENSG00000177791 106 0 0 87 25 22.3214 DUPD1 0 genome.wustl.edu 37 10 76803726 76803726 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 76803726 76803726 C T SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known missense c.250 p.V84M 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP 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_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 59 0 0 36 12 25 ITIH2 0 genome.wustl.edu 37 10 7759669 7759669 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 7759669 7759669 A G SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.548 p.Y183C 1.000 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 281 1 0.35461 200 75 27.2727 ITIH2 0 genome.wustl.edu 37 10 7771947 7771947 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 7771947 7771947 G A SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.1312 p.V438I 0.998 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 ITIH2 HGNC ENSG00000151655 106 0 0 93 25 21.1864 POLR3A 0 genome.wustl.edu 37 10 79764517 79764517 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 79764517 79764517 T G SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.2204 p.K735T 1.000 pfam_RNA_pol_Rpb1_4 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 50 0 0 31 12 27.907 TAF3 0 genome.wustl.edu 37 10 8006390 8006390 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 8006390 8006390 C T SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.917 p.S306F 0.998 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 80 0 0 73 19 20.6522 TAF3 0 genome.wustl.edu 37 10 8056685 8056685 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 8056685 8056685 C T SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.2761 p.H921Y 1.000 superfamily_Znf_FYVE_PHD pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 21 0 0 10 5 33.3333 NRG3 0 genome.wustl.edu 37 10 83635626 83635626 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 83635626 83635626 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.530 p.A177V 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 45 0 0 30 3 9.09091 GLUD1 0 genome.wustl.edu 37 10 88854214 88854214 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 88854214 88854214 T G SNP GLUD1 ENST00000277865 human ensembl 74_37 -1 known missense c.313 p.I105L 1.000 NULL 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 70 0 0 41 15 26.7857 PANK1 0 genome.wustl.edu 37 10 91371452 91371452 + Splice_Site SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 91371452 91371452 C T SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known splice_site c.1056+1 e2+1 1.000 - - - no_errors PANK1 HGNC ENSG00000152782 102 0 0 74 24 24.4898 RPP30 0 genome.wustl.edu 37 10 92634643 92634643 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 92634643 92634643 G A SNP RPP30 ENST00000413330 human ensembl 74_37 +1 known missense c.100 p.A34T 1.000 superfamily_Pol/histidinol_Pase-like pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC ENSG00000148688 135 0 0 77 17 18.0851 TUBB8 0 genome.wustl.edu 37 10 93569 93569 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 93569 93569 C T SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.763 p.V255M 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_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 TUBB8 HGNC ENSG00000173876 59 0 0 45 8 15.0943 BTAF1 0 genome.wustl.edu 37 10 93749219 93749219 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 93749219 93749219 G A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known silent c.2736 p.T912 0.722 pfam_DUF3535,superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 157 0 0 103 30 22.5564 CYP26A1 0 genome.wustl.edu 37 10 94836985 94836985 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 94836985 94836985 C T SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.1418 p.T473I 0.999 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 90 0 0 74 15 16.8539 MMP3 0 genome.wustl.edu 37 11 102714181 102714181 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 102714181 102714181 G A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.97 p.L33F 0.000 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,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,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 48 0 0 39 7 15.2174 ALKBH8 0 genome.wustl.edu 37 11 107427630 107427630 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 107427630 107427630 G A SNP ALKBH8 ENST00000417449 human ensembl 74_37 -1 known missense c.238 p.P80S 1.000 NULL pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 117 0 0 82 23 21.9048 ATM 0 genome.wustl.edu 37 11 108117798 108117798 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 108117798 108117798 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1009 p.R337C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 121 0 0 98 25 20.3252 SIK2 0 genome.wustl.edu 37 11 111591703 111591703 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 111591703 111591703 T C SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.1861 p.Y621H 0.980 pirsf_Ser/Thr_kinase_SIK1/2 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_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 201 0 0 128 38 22.8916 PPP2R1B 0 genome.wustl.edu 37 11 111597740 111597740 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 111597740 111597740 A G SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known silent c.1953 p.L651 0.060 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 110 0 0 73 24 24.7423 ATF4P4 0 genome.wustl.edu 37 11 113660472 113660472 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 113660472 113660472 G A SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ATF4P4 HGNC ENSG00000256167 12 0 0 9 4 30.7692 HTR3A 0 genome.wustl.edu 37 11 113853876 113853876 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 113853876 113853876 G A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.427 p.V143M 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_5HT3_rcpt_A,prints_5HT3_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 238 0 0 156 61 28.1106 SIDT2 0 genome.wustl.edu 37 11 117054505 117054505 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 117054505 117054505 T A SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.713 p.F238Y 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 91 0 0 81 8 8.98876 RNF214 0 genome.wustl.edu 37 11 117152859 117152859 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 117152859 117152859 G A SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known missense c.1585 p.A529T 0.868 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 221 0 0 154 48 23.7624 DSCAML1 0 genome.wustl.edu 37 11 117302319 117302319 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 117302319 117302319 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.5485 p.V1829M 0.966 NULL 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 106 0 0 100 30 23.0769 DSCAML1 0 genome.wustl.edu 37 11 117303931 117303931 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 117303931 117303931 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.5129 p.P1710L 1.000 NULL 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 75 0 0 42 4 8.69565 CXCR5 0 genome.wustl.edu 37 11 118765107 118765107 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 118765107 118765107 C T SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known missense c.854 p.A285V 0.009 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_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 85 0 0 63 21 25 SC5D 0 genome.wustl.edu 37 11 121177962 121177962 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 121177962 121177962 G A SNP SC5D ENST00000264027 human ensembl 74_37 +1 known missense c.641 p.R214H 1.000 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors SC5D HGNC ENSG00000109929 372 0 0 320 82 20.398 OR8B8 0 genome.wustl.edu 37 11 124310573 124310573 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 124310573 124310573 A G SNP OR8B8 ENST00000328064 human ensembl 74_37 -1 known missense c.409 p.S137P 0.483 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 79 0 0 54 19 26.0274 TBRG1 0 genome.wustl.edu 37 11 124496862 124496862 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 124496862 124496862 T A SNP TBRG1 ENST00000441174 human ensembl 74_37 +1 known missense c.654 p.S218R 1.000 pfam_FYrich_N,smart_FYrich_N pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 23 0 0 13 5 27.7778 HEPACAM 0 genome.wustl.edu 37 11 124794736 124794736 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 124794736 124794736 G A SNP HEPACAM ENST00000298251 human ensembl 74_37 -1 known silent c.315 p.G105 0.999 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM HGNC ENSG00000165478 215 0 0 140 52 27.0833 STT3A 0 genome.wustl.edu 37 11 125484229 125484229 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 125484229 125484229 C A SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.1682 p.S561Y 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 489 1 0.204082 369 105 22.1519 FOXRED1 0 genome.wustl.edu 37 11 126147409 126147409 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 126147409 126147409 T C SNP FOXRED1 ENST00000263578 human ensembl 74_37 +1 known missense c.1286 p.V429A 0.031 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 99 0 0 94 25 21.0084 MUC5B 0 genome.wustl.edu 37 11 1263618 1263618 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 1263618 1263618 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.5517 p.P1839 0.024 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 68 0 0 43 13 23.2143 MUC5B 0 genome.wustl.edu 37 11 1272678 1272678 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 1272678 1272678 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.14577 p.T4859 0.000 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 61 0 0 51 19 27.1429 ARHGAP32 0 genome.wustl.edu 37 11 128842466 128842466 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 128842466 128842466 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.3893 p.R1298H 0.976 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 147 0 0 123 44 26.3473 ARHGAP32 0 genome.wustl.edu 37 11 128846512 128846512 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 128846512 128846512 T C SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.2098 p.T700A 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 170 0 0 117 38 24.5161 ARHGAP32 0 genome.wustl.edu 37 11 128851443 128851443 + Nonsense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 128851443 128851443 C A SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known nonsense c.1606 p.E536* 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 150 0 0 90 34 27.4194 ST14 0 genome.wustl.edu 37 11 130060404 130060404 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 130060404 130060404 G A SNP ST14 ENST00000278742 human ensembl 74_37 +1 known silent c.690 p.T230 0.095 pirsf_Peptidase_S1A_matripase,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 48 0 0 27 14 34.1463 IGSF9B 0 genome.wustl.edu 37 11 133791085 133791085 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 133791085 133791085 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known silent c.2535 p.T845 0.477 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 IGSF9B HGNC ENSG00000080854 65 0 0 41 11 21.1538 IGSF9B 0 genome.wustl.edu 37 11 133794769 133794769 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 133794769 133794769 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.2065 p.V689I 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 IGSF9B HGNC ENSG00000080854 163 0 0 114 32 21.9178 ARNTL 0 genome.wustl.edu 37 11 13393835 13393835 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 13393835 13393835 G A SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known missense c.946 p.A316T 0.999 prints_Nuc_translocat pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 121 0 0 104 33 24.0876 JAM3 0 genome.wustl.edu 37 11 134014848 134014848 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 134014848 134014848 C T SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known missense c.706 p.R236C 0.964 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 121 0 0 81 23 22.1154 NCAPD3 0 genome.wustl.edu 37 11 134022911 134022911 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 134022911 134022911 G T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known silent c.4425 p.P1475 0.994 NULL superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 193 0 0 141 38 21.2291 GLB1L2 0 genome.wustl.edu 37 11 134212847 134212847 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 134212847 134212847 T C SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known splice_site c.284+2 e2+2 1.000 - - - no_errors GLB1L2 HGNC ENSG00000149328 96 0 0 77 16 17.2043 ABCC8 0 genome.wustl.edu 37 11 17428178 17428178 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 17428178 17428178 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.3323 p.A1108V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom 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 41 0 0 39 15 27.7778 ABCC8 0 genome.wustl.edu 37 11 17491700 17491700 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 17491700 17491700 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.360 p.S120 0.067 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 45 0 0 34 9 20.9302 MYOD1 0 genome.wustl.edu 37 11 17741819 17741819 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 17741819 17741819 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.490 p.L164 1.000 superfamily_bHLH_dom,smart_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 30 0 0 19 5 20.8333 UEVLD 0 genome.wustl.edu 37 11 18587900 18587900 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 18587900 18587900 T C SNP UEVLD ENST00000396197 human ensembl 74_37 -1 known missense c.487 p.T163A 1.000 NULL pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH - no_errors UEVLD HGNC ENSG00000151116 107 0 0 85 32 27.3504 ANO3 0 genome.wustl.edu 37 11 26556078 26556078 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 26556078 26556078 C T SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known silent c.945 p.R315 0.993 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 143 0 0 113 34 23.1293 METTL15 0 genome.wustl.edu 37 11 28134963 28134963 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 28134963 28134963 G A SNP METTL15 ENST00000303459 human ensembl 74_37 +1 known missense c.82 p.V28I 0.001 NULL pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH - no_errors METTL15 HGNC ENSG00000169519 116 0 0 90 28 23.7288 TCP11L1 0 genome.wustl.edu 37 11 33087459 33087459 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 33087459 33087459 C T SNP TCP11L1 ENST00000527661 human ensembl 74_37 +1 known silent c.1056 p.V352 0.985 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 293 0 0 204 67 24.7232 HIPK3 0 genome.wustl.edu 37 11 33308232 33308232 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 33308232 33308232 C T SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.272 p.A91V 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 HIPK3 HGNC ENSG00000110422 121 0 0 109 24 18.0451 HIPK3 0 genome.wustl.edu 37 11 33308858 33308858 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 33308858 33308858 C T SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.898 p.R300W 0.999 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 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 HIPK3 HGNC ENSG00000110422 280 0 0 204 40 16.3934 NUP98 0 genome.wustl.edu 37 11 3712640 3712640 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 3712640 3712640 T G SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.4391 p.E1464A 0.998 pfam_Nup96 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 124 0 0 77 14 15.3846 NUP98 0 genome.wustl.edu 37 11 3733808 3733808 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 3733808 3733808 C T SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.2728 p.A910T 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 186 0 0 111 46 29.2994 OR52K1 0 genome.wustl.edu 37 11 4510535 4510535 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 4510535 4510535 G A SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known silent c.405 p.T135 0.023 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 75 0 0 66 14 17.5 CHST1 0 genome.wustl.edu 37 11 45671376 45671376 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 45671376 45671376 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.1098 p.Y366 0.988 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 113 0 0 94 23 19.6581 CHST1 0 genome.wustl.edu 37 11 45671881 45671881 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 45671881 45671881 C T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.593 p.R198H 0.743 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 37 0 0 27 8 22.8571 GYLTL1B 0 genome.wustl.edu 37 11 45949777 45949777 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 45949777 45949777 C T SNP GYLTL1B ENST00000325468 human ensembl 74_37 +1 known missense c.1804 p.R602W 1.000 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 139 1 0.714286 87 15 14.7059 GYLTL1B 0 genome.wustl.edu 37 11 45949840 45949840 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 45949840 45949840 C T SNP GYLTL1B ENST00000325468 human ensembl 74_37 +1 known missense c.1867 p.P623S 0.999 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 219 1 0.454545 163 39 19.3069 PHF21A 0 genome.wustl.edu 37 11 45967444 45967444 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 45967444 45967444 T C SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.1399 p.T467A 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 80 0 0 78 21 21.2121 CKAP5 0 genome.wustl.edu 37 11 46837768 46837768 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 46837768 46837768 T G SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.439 p.T147P 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 262 1 0.380228 205 37 15.2893 MADD 0 genome.wustl.edu 37 11 47310991 47310991 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 47310991 47310991 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known silent c.2763 p.S921 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 389 0 0 267 79 22.8324 AGBL2 0 genome.wustl.edu 37 11 47726206 47726206 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 47726206 47726206 G A SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.475 p.R159C 0.056 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 182 0 0 124 31 20 PTPRJ 0 genome.wustl.edu 37 11 48157734 48157734 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 48157734 48157734 T C SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1759 p.Y587H 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 182 0 0 118 41 25.7862 LOC440040 0 genome.wustl.edu 37 11 49831725 49831725 + RNA SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 49831725 49831725 A G SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.306 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 323 0 0 226 64 22.069 HBE1 0 genome.wustl.edu 37 11 5290793 5290793 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 5290793 5290793 A G SNP HBE1 ENST00000292896 human ensembl 74_37 -1 known missense c.206 p.L69P 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBE1 HGNC ENSG00000213931 172 1 0.578035 119 28 19.0476 OR51I2 0 genome.wustl.edu 37 11 5474944 5474944 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 5474944 5474944 G A SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known missense c.226 p.A76T 0.348 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 OR51I2 HGNC ENSG00000187918 194 1 0.512821 138 32 18.8235 UBQLN3 0 genome.wustl.edu 37 11 5529920 5529920 + Missense_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 5529920 5529920 G C SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.869 p.T290S 0.008 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 196 0 0 148 40 21.2766 OR5D18 0 genome.wustl.edu 37 11 55587205 55587205 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 55587205 55587205 G A SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.100 p.A34T 0.006 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 238 0 0 194 63 24.5136 OR5T2 0 genome.wustl.edu 37 11 56000654 56000654 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 56000654 56000654 T C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.8 p.Y3C 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 251 0 0 186 43 18.7773 APLNR 0 genome.wustl.edu 37 11 57004240 57004240 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 57004240 57004240 A G SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.239 p.V80A 1.000 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 77 0 0 41 18 30.5085 TNKS1BP1 0 genome.wustl.edu 37 11 57069355 57069355 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 57069355 57069355 G A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.4897 p.R1633W 1.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 84 0 0 67 12 15.1899 SSRP1 0 genome.wustl.edu 37 11 57095279 57095279 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 57095279 57095279 C A SNP SSRP1 ENST00000278412 human ensembl 74_37 -1 known missense c.1689 p.E563D 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 220 0 0 138 53 27.7487 ZDHHC5 0 genome.wustl.edu 37 11 57467412 57467412 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 57467412 57467412 G A SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.2057 p.G686D 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 84 0 0 51 15 22.7273 OR10Q1 0 genome.wustl.edu 37 11 57995413 57995413 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 57995413 57995413 C T SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.935 p.R312H 0.262 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 327 1 0.304878 213 60 21.978 FAM111B 0 genome.wustl.edu 37 11 58893587 58893587 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 58893587 58893587 C T SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known nonsense c.2017 p.R673* 0.000 superfamily_Trypsin-like_Pept_dom superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 265 0 0 140 59 29.6482 STX3 0 genome.wustl.edu 37 11 59559674 59559674 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 59559674 59559674 G A SNP STX3 ENST00000337979 human ensembl 74_37 +1 known missense c.452 p.R151Q 1.000 superfamily_t-SNARE pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC ENSG00000166900 43 0 0 20 7 25.9259 TCN1 0 genome.wustl.edu 37 11 59629106 59629106 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 59629106 59629106 G A SNP TCN1 ENST00000257264 human ensembl 74_37 -1 known silent c.450 p.D150 0.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 164 0 0 116 35 23.1788 PTGDR2 0 genome.wustl.edu 37 11 60620738 60620738 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 60620738 60620738 A G SNP PTGDR2 ENST00000332539 human ensembl 74_37 -1 known missense c.458 p.L153P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt - no_errors PTGDR2 HGNC ENSG00000183134 24 0 0 9 7 43.75 TMEM132A 0 genome.wustl.edu 37 11 60695270 60695270 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 60695270 60695270 C T SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.473 p.P158L 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 76 0 0 44 15 25.4237 CD5 0 genome.wustl.edu 37 11 60886386 60886386 + Splice_Site SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 60886386 60886386 G T SNP CD5 ENST00000347785 human ensembl 74_37 +1 known splice_site c.401-1 e4-1 0.998 - - - no_errors CD5 HGNC ENSG00000110448 48 0 0 24 8 25 OR56B4 0 genome.wustl.edu 37 11 6129484 6129484 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 6129484 6129484 G A SNP OR56B4 ENST00000316529 human ensembl 74_37 +1 known missense c.476 p.G159D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B4 HGNC ENSG00000180919 221 0 0 148 40 21.2766 IRF7 0 genome.wustl.edu 37 11 613969 613969 + Missense_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 613969 613969 G C SNP IRF7 ENST00000330243 human ensembl 74_37 -1 known missense c.787 p.P263A 0.002 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 22 0 0 17 14 45.1613 AHNAK 0 genome.wustl.edu 37 11 62297658 62297658 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 62297658 62297658 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.4231 p.V1411I 0.051 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 475 0 0 370 115 23.7113 METTL12 0 genome.wustl.edu 37 11 62434242 62434242 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 62434242 62434242 C A SNP METTL12 ENST00000532971 human ensembl 74_37 +1 known missense c.442 p.L148M 0.998 pfam_Methyltransf_11 pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 111 0 0 71 21 22.8261 HNRNPUL2 0 genome.wustl.edu 37 11 62487636 62487636 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 62487636 62487636 G A SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known missense c.1639 p.R547W 0.996 pfam_Chromatin_KTI12,superfamily_P-loop_NTPase 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 246 0 0 189 61 24.4 TTC9C 0 genome.wustl.edu 37 11 62496515 62496515 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 62496515 62496515 C T SNP TTC9C ENST00000513247 human ensembl 74_37 +1 known silent c.594 p.N198 0.006 NULL NULL - no_errors TTC9C HGNC ENSG00000162222 68 0 0 66 13 16.4557 SLC22A9 0 genome.wustl.edu 37 11 63137671 63137671 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 63137671 63137671 G A SNP SLC22A9 ENST00000279178 human ensembl 74_37 +1 known missense c.143 p.R48H 1.000 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 393 0 0 249 67 21.2025 FLRT1 0 genome.wustl.edu 37 11 63884234 63884234 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 63884234 63884234 C T SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known silent c.495 p.T165 0.994 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 64 0 0 42 10 19.2308 NUDT22 0 genome.wustl.edu 37 11 63994403 63994403 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 63994403 63994403 C A SNP NUDT22 ENST00000279206 human ensembl 74_37 +1 known silent c.279 p.T93 1.000 NULL superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT22 HGNC ENSG00000149761 60 0 0 57 14 19.7183 SLC22A12 0 genome.wustl.edu 37 11 64367852 64367852 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 64367852 64367852 G A SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known silent c.1299 p.L433 0.903 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 13 0 0 10 3 23.0769 PYGM 0 genome.wustl.edu 37 11 64522768 64522768 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 64522768 64522768 G A SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.832 p.R278C 0.970 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 92 0 0 67 19 22.093 ATG2A 0 genome.wustl.edu 37 11 64678286 64678286 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 64678286 64678286 T C SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.1607 p.Y536C 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 16 0 0 17 4 19.0476 PPP2R5B 0 genome.wustl.edu 37 11 64695857 64695857 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 64695857 64695857 C T SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known missense c.682 p.R228W 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 104 1 0.952381 80 22 21.5686 SLC22A20 0 genome.wustl.edu 37 11 65000741 65000741 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 65000741 65000741 C T SNP SLC22A20 ENST00000525437 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors SLC22A20 HGNC ENSG00000197847 34 0 0 23 10 30.303 FRMD8 0 genome.wustl.edu 37 11 65156922 65156922 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 65156922 65156922 G A SNP FRMD8 ENST00000317568 human ensembl 74_37 +1 known missense c.176 p.R59H 0.917 smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD8 HGNC ENSG00000126391 67 0 0 50 21 29.5775 LTBP3 0 genome.wustl.edu 37 11 65321528 65321528 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 65321528 65321528 C T SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.655 p.A219T 0.989 NULL 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 48 0 0 35 4 10.2564 PCNXL3 0 genome.wustl.edu 37 11 65396168 65396168 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 65396168 65396168 G A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.3805 p.V1269M 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 35 0 0 28 4 12.5 GAL3ST3 0 genome.wustl.edu 37 11 65810516 65810516 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 65810516 65810516 C T SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.758 p.R253H 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 52 0 0 44 15 25.4237 GAL3ST3 0 genome.wustl.edu 37 11 65810617 65810617 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 65810617 65810617 G A SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known silent c.657 p.D219 0.199 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 76 0 0 79 22 21.7822 ADRBK1 0 genome.wustl.edu 37 11 67047323 67047323 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 67047323 67047323 A T SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.455 p.E152V 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam 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 85 0 0 68 16 19.0476 PITPNM1 0 genome.wustl.edu 37 11 67259599 67259599 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 67259599 67259599 T C SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.3640 p.S1214G 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 50 0 0 53 3 5.35714 PITPNM1 0 genome.wustl.edu 37 11 67269822 67269822 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 67269822 67269822 C A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.356 p.G119V 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 120 0 0 68 20 22.7273 OR2D2 0 genome.wustl.edu 37 11 6913632 6913632 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 6913632 6913632 C T SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.100 p.V34I 0.019 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 119 0 0 81 31 27.6786 RBMXL2 0 genome.wustl.edu 37 11 7111248 7111248 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 7111248 7111248 G A SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.897 p.P299 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 29 0 0 11 9 45 NUMA1 0 genome.wustl.edu 37 11 71719794 71719794 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 71719794 71719794 T C SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.5156 p.D1719G 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 147 0 0 104 38 26.7606 CLPB 0 genome.wustl.edu 37 11 72091323 72091323 + Splice_Site SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 72091323 72091323 A G SNP CLPB ENST00000294053 human ensembl 74_37 -1 known splice_site c.646+2 e4+2 1.000 - - - no_errors CLPB HGNC ENSG00000162129 71 0 0 44 15 25.4237 CHRDL2 0 genome.wustl.edu 37 11 74415529 74415529 + Splice_Site SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 74415529 74415529 A G SNP CHRDL2 ENST00000263671 human ensembl 74_37 -1 known splice_site c.751+2 e7+2 0.998 - - - no_errors CHRDL2 HGNC ENSG00000054938 69 0 0 39 12 23.5294 CHRDL2 0 genome.wustl.edu 37 11 74417543 74417543 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 74417543 74417543 G T SNP CHRDL2 ENST00000263671 human ensembl 74_37 -1 known missense c.571 p.L191I 0.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL2 HGNC ENSG00000054938 130 0 0 76 22 22.449 SPCS2 0 genome.wustl.edu 37 11 74688037 74688037 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 74688037 74688037 T C SNP SPCS2 ENST00000263672 human ensembl 74_37 +1 known silent c.630 p.P210 1.000 pfam_SigPept_cplx_su2 pfam_SigPept_cplx_su2 - no_errors SPCS2 HGNC ENSG00000118363 49 0 0 35 6 14.6341 UVRAG 0 genome.wustl.edu 37 11 75852178 75852178 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 75852178 75852178 G A SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known silent c.1821 p.G607 0.001 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 60 0 0 47 17 26.5625 C11orf30 0 genome.wustl.edu 37 11 76207359 76207359 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 76207359 76207359 A G SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known silent c.1209 p.Q403 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 232 0 0 193 69 26.3359 LRRC32 0 genome.wustl.edu 37 11 76371656 76371656 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 76371656 76371656 A G SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known silent c.981 p.I327 0.383 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_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 44 0 0 34 9 20.9302 CAPN5 0 genome.wustl.edu 37 11 76825332 76825332 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 76825332 76825332 A C SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.551 p.D184A 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 252 1 0.395257 178 43 19.457 PAK1 0 genome.wustl.edu 37 11 77090970 77090970 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 77090970 77090970 A G SNP PAK1 ENST00000278568 human ensembl 74_37 -1 known missense c.260 p.V87A 1.000 pfam_CRIB_dom,superfamily_WASP_C,smart_CRIB_dom,pfscan_CRIB_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK1 HGNC ENSG00000149269 132 0 0 118 30 20.2703 TENM4 0 genome.wustl.edu 37 11 78412977 78412977 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 78412977 78412977 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.4681 p.R1561W 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 167 0 0 116 28 19.4444 FOLH1B 0 genome.wustl.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 89395322 89395322 C T SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors FOLH1B HGNC ENSG00000134612 74 0 0 54 3 5.26316 C11orf16 0 genome.wustl.edu 37 11 8947037 8947037 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 8947037 8947037 C T SNP C11orf16 ENST00000326053 human ensembl 74_37 -1 known missense c.1177 p.G393R 0.009 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 112 0 0 92 33 26.4 TMEM9B 0 genome.wustl.edu 37 11 8969887 8969887 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 8969887 8969887 G A SNP TMEM9B ENST00000534025 human ensembl 74_37 -1 known missense c.577 p.R193W 1.000 pfam_TMEM9 pfam_TMEM9 - no_errors TMEM9B HGNC ENSG00000175348 213 0 0 129 44 25.4335 SCUBE2 0 genome.wustl.edu 37 11 9069032 9069032 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 9069032 9069032 C T SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.1873 p.V625I 1.000 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 82 0 0 60 22 26.8293 HEPHL1 0 genome.wustl.edu 37 11 93837908 93837908 + Missense_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 93837908 93837908 G C SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.2897 p.R966T 0.960 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 216 0 0 151 52 25.6158 KDM4E 0 genome.wustl.edu 37 11 94759423 94759423 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 94759423 94759423 C A SNP KDM4E ENST00000450979 human ensembl 74_37 +1 known silent c.702 p.G234 0.928 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 53 0 0 51 13 20.3125 UTP20 0 genome.wustl.edu 37 12 101736764 101736764 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 101736764 101736764 G A SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.4342 p.V1448I 0.997 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 205 0 0 139 39 21.9101 SPIC 0 genome.wustl.edu 37 12 101880330 101880330 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 101880330 101880330 C T SNP SPIC ENST00000299272 human ensembl 74_37 +1 known silent c.528 p.Y176 0.994 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIC HGNC ENSG00000166211 138 0 0 93 43 31.6176 RAD52 0 genome.wustl.edu 37 12 1025516 1025516 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 1025516 1025516 T C SNP RAD52 ENST00000358495 human ensembl 74_37 -1 known missense c.859 p.S287G 0.000 NULL pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 - no_errors RAD52 HGNC ENSG00000002016 29 0 0 19 5 20.8333 STAB2 0 genome.wustl.edu 37 12 104044321 104044321 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 104044321 104044321 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.1222 p.L408M 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 78 0 0 63 14 18.1818 STAB2 0 genome.wustl.edu 37 12 104071360 104071360 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 104071360 104071360 G A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.2776 p.A926T 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 123 0 0 99 15 13.1579 NUAK1 0 genome.wustl.edu 37 12 106532257 106532257 + Nonsense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 106532257 106532257 C A SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known nonsense c.175 p.E59* 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_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 35 0 0 26 8 23.5294 MTERFD3 0 genome.wustl.edu 37 12 107372251 107372251 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 107372251 107372251 G A SNP MTERFD3 ENST00000240050 human ensembl 74_37 -1 known missense c.242 p.A81V 0.908 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 328 0 0 201 69 25.5556 FAM222A 0 genome.wustl.edu 37 12 110206229 110206229 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 110206229 110206229 G A SNP FAM222A ENST00000358906 human ensembl 74_37 +1 known silent c.495 p.A165 0.647 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 30 0 0 16 5 23.8095 FAM222A 0 genome.wustl.edu 37 12 110206380 110206380 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 110206380 110206380 G A SNP FAM222A ENST00000358906 human ensembl 74_37 +1 known missense c.646 p.A216T 0.953 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 49 0 0 21 7 25 GIT2 0 genome.wustl.edu 37 12 110421431 110421431 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 110421431 110421431 T G SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known missense c.474 p.Q158H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 226 1 0.440529 149 42 21.9895 ATP2A2 0 genome.wustl.edu 37 12 110783139 110783139 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 110783139 110783139 T C SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.2693 p.M898T 1.000 pfam_ATPase_P-typ_cation-transptr_C 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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A2 HGNC ENSG00000174437 277 1 0.359712 209 66 24 MYL2 0 genome.wustl.edu 37 12 111358330 111358330 + Splice_Site SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 111358330 111358330 C T SNP MYL2 ENST00000228841 human ensembl 74_37 -1 known splice_site c.3+1 e1+1 1.000 - - - no_errors MYL2 HGNC ENSG00000111245 107 0 0 68 13 16.0494 ACAD10 0 genome.wustl.edu 37 12 112185167 112185167 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 112185167 112185167 C T SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known silent c.2556 p.N852 0.003 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_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 193 0 0 121 41 25.3086 ERP29 0 genome.wustl.edu 37 12 112460088 112460088 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 112460088 112460088 G A SNP ERP29 ENST00000261735 human ensembl 74_37 +1 known missense c.418 p.A140T 1.000 pfam_ERp29_N,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 74 0 0 70 19 21.3483 LHX5 0 genome.wustl.edu 37 12 113906172 113906172 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 113906172 113906172 G A SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known silent c.435 p.L145 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 LHX5 HGNC ENSG00000089116 47 0 0 44 12 21.4286 MED13L 0 genome.wustl.edu 37 12 116408482 116408482 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 116408482 116408482 T C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.5984 p.H1995R 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 176 1 0.564972 116 36 23.6842 TESC 0 genome.wustl.edu 37 12 117494684 117494684 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 117494684 117494684 T C SNP TESC ENST00000392545 human ensembl 74_37 -1 known missense c.295 p.N99D 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors TESC HGNC ENSG00000088992 121 0 0 79 30 27.5229 NOS1 0 genome.wustl.edu 37 12 117672429 117672429 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 117672429 117672429 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3176 p.A1059V 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 43 0 0 42 14 25 WSB2 0 genome.wustl.edu 37 12 118474213 118474213 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 118474213 118474213 C T SNP WSB2 ENST00000315436 human ensembl 74_37 -1 known missense c.763 p.V255I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 211 0 0 161 23 12.5 KNTC1 0 genome.wustl.edu 37 12 123055441 123055441 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 123055441 123055441 T C SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.1879 p.L627 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 14 0 0 15 6 28.5714 HCAR1 0 genome.wustl.edu 37 12 123214828 123214828 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 123214828 123214828 G A SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known missense c.59 p.P20L 0.977 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 43 0 0 29 5 14.7059 EIF2B1 0 genome.wustl.edu 37 12 124106442 124106442 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 124106442 124106442 G A SNP EIF2B1 ENST00000424014 human ensembl 74_37 -1 known missense c.779 p.A260V 0.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 86 0 0 36 13 26.5306 ATP6V0A2 0 genome.wustl.edu 37 12 124209219 124209219 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 124209219 124209219 G A SNP ATP6V0A2 ENST00000330342 human ensembl 74_37 +1 known missense c.313 p.E105K 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A2 HGNC ENSG00000185344 380 0 0 265 91 25.5618 SCARB1 0 genome.wustl.edu 37 12 125294823 125294823 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 125294823 125294823 G A SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known missense c.739 p.H247Y 0.864 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 55 0 0 31 10 24.3902 MIR613 0 genome.wustl.edu 37 12 12917591 12917591 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 12917591 12917591 C T SNP MIR613 ENST00000385248 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR613 HGNC ENSG00000207983 136 1 0.729927 92 20 17.8571 FZD10 0 genome.wustl.edu 37 12 130648515 130648515 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 130648515 130648515 G A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.1028 p.G343D 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 45 0 0 32 15 31.9149 GPR133 0 genome.wustl.edu 37 12 131451073 131451073 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 131451073 131451073 C T SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.169 p.L57F 0.992 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 76 0 0 55 9 14.0625 GSG1 0 genome.wustl.edu 37 12 13238096 13238096 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 13238096 13238096 G T SNP GSG1 ENST00000324458 human ensembl 74_37 -1 known missense c.828 p.F276L 1.000 NULL pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 85 0 0 49 19 27.9412 ULK1 0 genome.wustl.edu 37 12 132393458 132393458 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 132393458 132393458 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.506 p.A169V 0.999 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 41 0 0 31 3 8.82353 PDE3A 0 genome.wustl.edu 37 12 20766556 20766556 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 20766556 20766556 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.1191 p.P397 0.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 128 0 0 107 30 21.8978 SLCO1A2 0 genome.wustl.edu 37 12 21448696 21448696 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 21448696 21448696 C T SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.1106 p.G369E 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 93 0 0 71 20 21.978 GYS2 0 genome.wustl.edu 37 12 21693395 21693395 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 21693395 21693395 C T SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known silent c.1758 p.R586 0.985 pfam_Glycogen_synth,pfam_Glyco_trans_1 pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 392 0 0 292 76 20.6522 ST8SIA1 0 genome.wustl.edu 37 12 22354586 22354586 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 22354586 22354586 A G SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known missense c.971 p.M324T 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 183 1 0.543478 141 40 22.0994 ITPR2 0 genome.wustl.edu 37 12 26572040 26572040 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 26572040 26572040 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.7052 p.A2351V 0.002 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 71 0 0 56 21 27.2727 CACNA1C 0 genome.wustl.edu 37 12 2705039 2705039 + Splice_Site SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 2705039 2705039 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known splice_site c.2664-1 e20-1 1.000 - - - no_errors CACNA1C HGNC ENSG00000151067 102 0 0 99 21 17.5 FGFR1OP2 0 genome.wustl.edu 37 12 27113500 27113500 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 27113500 27113500 G A SNP FGFR1OP2 ENST00000229395 human ensembl 74_37 +1 known missense c.449 p.R150Q 1.000 superfamily_DNA-bd_dom_put pfam_SIKE,superfamily_DNA-bd_dom_put - no_errors FGFR1OP2 HGNC ENSG00000111790 136 0 0 98 23 19.0083 DDX11 0 genome.wustl.edu 37 12 31254802 31254802 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 31254802 31254802 C T SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known silent c.2088 p.C696 0.896 tigrfam_DNA_helicase_DNA-repair_Rad3 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 DDX11 HGNC ENSG00000013573 134 0 0 97 30 23.622 KIAA1551 0 genome.wustl.edu 37 12 32138395 32138395 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 32138395 32138395 G A SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known silent c.4506 p.V1502 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 91 0 0 52 16 23.5294 FGD4 0 genome.wustl.edu 37 12 32777363 32777363 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 32777363 32777363 C T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known nonsense c.1519 p.Q507* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 42 0 0 38 13 25.4902 KDM5A 0 genome.wustl.edu 37 12 416792 416792 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 416792 416792 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.3758 p.A1253V 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 108 0 0 81 25 23.5849 ADAMTS20 0 genome.wustl.edu 37 12 43837660 43837660 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 43837660 43837660 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.2224 p.A742T 0.000 pfam_ADAM_spacer1 pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 288 0 0 209 58 21.7228 KDM5A 0 genome.wustl.edu 37 12 443551 443551 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 443551 443551 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.1346 p.P449L 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 352 0 0 293 65 18.1564 TMEM117 0 genome.wustl.edu 37 12 44782314 44782314 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 44782314 44782314 C T SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known silent c.1404 p.C468 0.994 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 248 0 0 185 41 18.1416 ARID2 0 genome.wustl.edu 37 12 46211569 46211569 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 46211569 46211569 G A SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.535 p.V179I 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 145 0 0 106 25 19.084 SCAF11 0 genome.wustl.edu 37 12 46322307 46322307 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 46322307 46322307 A G SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.1177 p.S393P 0.881 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 235 0 0 177 44 19.9095 PFKM 0 genome.wustl.edu 37 12 48501948 48501948 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 48501948 48501948 C T SNP PFKM ENST00000547581 human ensembl 74_37 +1 known missense c.176 p.T59I 0.004 NULL NULL - no_errors PFKM HGNC ENSG00000152556 248 0 0 154 40 20.6186 ZNF641 0 genome.wustl.edu 37 12 48737327 48737327 + Nonsense_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 48737327 48737327 G C SNP ZNF641 ENST00000301042 human ensembl 74_37 -1 known nonsense c.746 p.S249* 0.989 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 ZNF641 HGNC ENSG00000167528 141 0 0 88 24 21.4286 DDX23 0 genome.wustl.edu 37 12 49225894 49225894 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 49225894 49225894 G A SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known silent c.2031 p.C677 0.343 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 106 0 0 70 16 18.6047 KMT2D 0 genome.wustl.edu 37 12 49434444 49434444 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 49434444 49434444 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.7109 p.R2370H 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 66 0 0 32 5 13.5135 TROAP 0 genome.wustl.edu 37 12 49722991 49722991 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 49722991 49722991 G A SNP TROAP ENST00000257909 human ensembl 74_37 +1 known silent c.1068 p.R356 0.982 NULL NULL - no_errors TROAP HGNC ENSG00000135451 307 0 0 230 25 9.80392 KCNH3 0 genome.wustl.edu 37 12 49937067 49937067 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 49937067 49937067 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.589 p.G197R 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 46 0 0 35 17 32.6923 AQP6 0 genome.wustl.edu 37 12 50369362 50369362 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 50369362 50369362 G A SNP AQP6 ENST00000315520 human ensembl 74_37 +1 known missense c.757 p.V253I 0.000 prints_Aquaporin_6 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_6,tigrfam_MIP - no_errors AQP6 HGNC ENSG00000086159 119 0 0 70 33 32.0388 SLC4A8 0 genome.wustl.edu 37 12 51844755 51844755 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 51844755 51844755 C T SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known missense c.226 p.R76W 0.997 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 19 0 0 13 9 40.9091 KRT2 0 genome.wustl.edu 37 12 53044214 53044214 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 53044214 53044214 T C SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.709 p.K237E 0.931 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 365 0 0 280 73 20.6799 KRT8 0 genome.wustl.edu 37 12 53295004 53295004 + Splice_Site SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 53295004 53295004 C A SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known splice_site c.534-1 e3-1 1.000 - - - no_errors KRT8 HGNC ENSG00000170421 217 0 0 147 39 20.9677 SP7 0 genome.wustl.edu 37 12 53722463 53722463 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 53722463 53722463 C T SNP SP7 ENST00000303846 human ensembl 74_37 -1 known missense c.763 p.G255R 0.556 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 58 0 0 31 10 24.3902 SP1 0 genome.wustl.edu 37 12 53776718 53776718 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 53776718 53776718 T C SNP SP1 ENST00000327443 human ensembl 74_37 +1 known silent c.987 p.T329 0.990 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 193 0 0 120 37 23.5669 LRP1 0 genome.wustl.edu 37 12 57537482 57537482 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 57537482 57537482 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.349 p.R117C 0.006 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 65 0 0 40 11 21.5686 LRP1 0 genome.wustl.edu 37 12 57577935 57577935 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 57577935 57577935 C A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.5997 p.R1999 0.736 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 54 0 0 29 13 30.9524 LRP1 0 genome.wustl.edu 37 12 57602495 57602495 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 57602495 57602495 A G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.12040 p.T4014A 0.993 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 64 0 0 45 12 21.0526 AGAP2 0 genome.wustl.edu 37 12 58124646 58124646 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 58124646 58124646 C T SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.2236 p.A746T 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 27 0 0 25 9 26.4706 METTL21B 0 genome.wustl.edu 37 12 58174183 58174183 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 58174183 58174183 C T SNP METTL21B ENST00000300209 human ensembl 74_37 +1 known silent c.435 p.D145 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 109 0 0 55 23 29.4872 VWF 0 genome.wustl.edu 37 12 6128544 6128544 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 6128544 6128544 A G SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.4040 p.V1347A 0.927 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 104 0 0 76 24 24 MON2 0 genome.wustl.edu 37 12 62943525 62943525 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 62943525 62943525 G A SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.2834 p.C945Y 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 213 0 0 138 40 22.4719 PPM1H 0 genome.wustl.edu 37 12 63195794 63195794 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 63195794 63195794 G A SNP PPM1H ENST00000228705 human ensembl 74_37 -1 known silent c.558 p.V186 0.756 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 78 0 0 58 11 15.942 PLEKHG6 0 genome.wustl.edu 37 12 6427575 6427575 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 6427575 6427575 C T SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known nonsense c.1264 p.R422* 0.904 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 33 16 32.6531 GNS 0 genome.wustl.edu 37 12 65113872 65113872 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 65113872 65113872 T C SNP GNS ENST00000258145 human ensembl 74_37 -1 known missense c.1510 p.N504D 1.000 superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 429 0 0 309 105 25.3623 CAND1 0 genome.wustl.edu 37 12 67692780 67692780 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 67692780 67692780 T C SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.905 p.L302P 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 106 0 0 64 16 20 GPR162 0 genome.wustl.edu 37 12 6934773 6934773 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 6934773 6934773 G A SNP GPR162 ENST00000311268 human ensembl 74_37 +1 known missense c.992 p.R331H 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 19 0 0 4 4 50 GPR162 0 genome.wustl.edu 37 12 6935968 6935968 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 6935968 6935968 C A SNP GPR162 ENST00000311268 human ensembl 74_37 +1 known missense c.1366 p.L456M 0.999 prints_GPR162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 104 0 0 91 34 27.2 TSPAN8 0 genome.wustl.edu 37 12 71531789 71531789 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 71531789 71531789 C T SNP TSPAN8 ENST00000247829 human ensembl 74_37 -1 known missense c.388 p.A130T 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 174 0 0 135 39 22.4138 C1S 0 genome.wustl.edu 37 12 7169970 7169970 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 7169970 7169970 C T SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.197 p.A66V 0.024 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 229 2 0.865801 161 41 20.297 SLC2A14 0 genome.wustl.edu 37 12 7984225 7984225 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 7984225 7984225 C T SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known missense c.316 p.G106R 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 98 0 0 57 15 20.8333 TMTC2 0 genome.wustl.edu 37 12 83379735 83379735 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 83379735 83379735 C T SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known silent c.1980 p.P660 0.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 306 0 0 257 42 14.0468 FAM90A1 0 genome.wustl.edu 37 12 8374755 8374755 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 8374755 8374755 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.1058 p.P353L 0.001 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 50 0 0 29 12 29.2683 PLXNC1 0 genome.wustl.edu 37 12 94562942 94562942 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 94562942 94562942 A G SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.1076 p.Q359R 0.002 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 109 0 0 100 31 23.6641 APAF1 0 genome.wustl.edu 37 12 99126270 99126270 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 99126270 99126270 G A SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.3673 p.V1225M 1.000 superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 108 0 0 78 25 24.2718 KDELC1 0 genome.wustl.edu 37 13 103436732 103436732 + RNA SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 103436732 103436732 A C SNP KDELC1 ENST00000460338 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KDELC1 HGNC ENSG00000134901 28 0 0 19 5 20.8333 FAM155A 0 genome.wustl.edu 37 13 107822998 107822998 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 107822998 107822998 T C SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known silent c.1224 p.S408 0.997 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 104 0 0 75 20 21.0526 ARHGEF7 0 genome.wustl.edu 37 13 111953116 111953116 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 111953116 111953116 C T SNP ARHGEF7 ENST00000370623 human ensembl 74_37 +1 known missense c.1940 p.P647L 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CH-domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 200 0 0 142 38 21.1111 CENPJ 0 genome.wustl.edu 37 13 25457398 25457398 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 25457398 25457398 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.3934 p.G1312S 1.000 pfam_Tcp10_C_dom pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 398 0 0 248 69 21.7666 LNX2 0 genome.wustl.edu 37 13 28136599 28136599 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 28136599 28136599 C A SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known missense c.1175 p.G392V 0.989 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 273 0 0 154 53 25.6039 FLT3 0 genome.wustl.edu 37 13 28636133 28636133 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 28636133 28636133 G A SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.239 p.A80V 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 139 0 0 86 35 28.9256 FLT1 0 genome.wustl.edu 37 13 29008007 29008007 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 29008007 29008007 A G SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.762 p.A254 0.092 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 257 0 0 159 40 20.1005 SLC46A3 0 genome.wustl.edu 37 13 29287374 29287374 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 29287374 29287374 C T SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known missense c.503 p.R168Q 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 151 0 0 81 35 30.1724 FRY 0 genome.wustl.edu 37 13 32868578 32868578 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 32868578 32868578 A G SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.8654 p.D2885G 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 80 0 0 46 14 23.3333 BRCA2 0 genome.wustl.edu 37 13 32972903 32972903 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 32972903 32972903 T G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.10253 p.I3418S 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 81 0 0 57 22 27.8481 SPG20 0 genome.wustl.edu 37 13 36900787 36900787 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 36900787 36900787 A G SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.1213 p.C405R 0.232 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 123 0 0 68 16 19.0476 SMAD9 0 genome.wustl.edu 37 13 37439797 37439797 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 37439797 37439797 G A SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known nonsense c.880 p.R294* 0.998 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 157 0 0 116 29 20 PROSER1 0 genome.wustl.edu 37 13 39603448 39603448 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 39603448 39603448 T G SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known missense c.245 p.D82A 1.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 143 0 0 102 25 19.685 SLC25A15 0 genome.wustl.edu 37 13 41379273 41379273 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 41379273 41379273 G A SNP SLC25A15 ENST00000338625 human ensembl 74_37 +1 known missense c.334 p.A112T 1.000 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 SLC25A15 HGNC ENSG00000102743 118 0 0 91 42 31.5789 MTRF1 0 genome.wustl.edu 37 13 41827154 41827154 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 41827154 41827154 G T SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known missense c.559 p.L187I 0.753 pfam_PCRF,smart_PCRF pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 94 0 0 86 5 5.49451 NAA16 0 genome.wustl.edu 37 13 41943362 41943362 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 41943362 41943362 A T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.1890 p.E630D 0.133 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 148 0 0 82 29 26.1261 SLC25A30 0 genome.wustl.edu 37 13 45980026 45980026 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 45980026 45980026 C T SNP SLC25A30 ENST00000519676 human ensembl 74_37 -1 known missense c.299 p.R100H 0.082 superfamily_Mt_carrier_dom,prints_Mit_uncoupling 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 91 0 0 67 12 15.1899 RB1 0 genome.wustl.edu 37 13 48919235 48919235 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 48919235 48919235 T G SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.400 p.L134V 0.987 pfam_RB_N,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 157 0 0 116 32 21.6216 SERPINE3 0 genome.wustl.edu 37 13 51936035 51936035 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 51936035 51936035 A G SNP SERPINE3 ENST00000521255 human ensembl 74_37 +1 known missense c.1177 p.T393A 0.006 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 177 0 0 82 23 21.9048 ALG11 0 genome.wustl.edu 37 13 52602510 52602510 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 52602510 52602510 C T SNP ALG11 ENST00000523764 human ensembl 74_37 +1 novel missense c.100 p.P34S 1.000 NULL NULL - no_errors ALG11 HGNC ENSG00000253710 231 0 0 129 33 20.3704 PCDH8 0 genome.wustl.edu 37 13 53420927 53420927 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 53420927 53420927 A G SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.1645 p.S549P 1.000 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 PCDH8 HGNC ENSG00000136099 8 0 0 5 2 28.5714 PCDH17 0 genome.wustl.edu 37 13 58208186 58208186 + Silent SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 58208186 58208186 C G SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1506 p.G502 0.998 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 PCDH17 HGNC ENSG00000118946 65 0 0 44 15 25.4237 PCDH17 0 genome.wustl.edu 37 13 58208609 58208609 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 58208609 58208609 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1929 p.G643 0.992 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 PCDH17 HGNC ENSG00000118946 265 0 0 174 26 13 DACH1 0 genome.wustl.edu 37 13 72146986 72146986 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 72146986 72146986 T C SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.1447 p.T483A 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 136 0 0 84 22 20.7547 TBC1D4 0 genome.wustl.edu 37 13 75901914 75901914 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 75901914 75901914 G A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.1780 p.R594W 0.991 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 231 1 0.431034 161 60 27.1493 UCHL3 0 genome.wustl.edu 37 13 76179898 76179898 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 76179898 76179898 C T SNP UCHL3 ENST00000377595 human ensembl 74_37 +1 known missense c.643 p.R215C 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL3 HGNC ENSG00000118939 141 0 0 84 26 23.6364 MIR379 0 genome.wustl.edu 37 14 101488429 101488429 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 101488429 101488429 C T SNP MIR379 ENST00000362218 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR379 HGNC ENSG00000199088 102 0 0 77 16 17.2043 TECPR2 0 genome.wustl.edu 37 14 102910059 102910059 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 102910059 102910059 G A SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.2828 p.R943Q 0.999 superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR 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 60 0 0 46 7 13.2075 POTEG 0 genome.wustl.edu 37 14 19553815 19553815 + Nonsense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 19553815 19553815 C A SNP POTEG ENST00000409832 human ensembl 74_37 +1 known nonsense c.399 p.Y133* 0.002 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 POTEG HGNC ENSG00000222036 355 0 0 321 23 6.68605 LOC101929948 0 genome.wustl.edu 37 14 19563232 19563232 + RNA SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 19563232 19563232 T C SNP LOC101929948 ENST00000548748 human ensembl 74_37 -1 known rna NULL NULL 0.050 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 18 0 0 13 4 23.5294 OR4M1 0 genome.wustl.edu 37 14 20248598 20248598 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 20248598 20248598 A G SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known silent c.117 p.L39 0.901 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 1022 0 0 853 126 12.8703 OR4K15 0 genome.wustl.edu 37 14 20443718 20443718 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 20443718 20443718 A C SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.41 p.Q14P 0.055 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 223 1 0.446429 126 37 22.6994 OSGEP 0 genome.wustl.edu 37 14 20915437 20915437 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 20915437 20915437 A G SNP OSGEP ENST00000206542 human ensembl 74_37 -1 known missense c.970 p.Y324H 1.000 NULL pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEP HGNC ENSG00000092094 312 1 0.319489 229 69 23.1544 RNASE4 0 genome.wustl.edu 37 14 21167799 21167799 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 21167799 21167799 T C SNP RNASE4 ENST00000304704 human ensembl 74_37 +1 known missense c.269 p.I90T 0.067 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE4 HGNC ENSG00000258818 252 0 0 164 49 23.0047 CHD8 0 genome.wustl.edu 37 14 21862288 21862288 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 21862288 21862288 C T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.5666 p.R1889H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 CHD8 HGNC ENSG00000100888 81 0 0 49 20 28.9855 CHD8 0 genome.wustl.edu 37 14 21868764 21868764 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 21868764 21868764 G A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known nonsense c.4378 p.R1460* 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 CHD8 HGNC ENSG00000100888 58 0 0 35 18 33.9623 CHD8 0 genome.wustl.edu 37 14 21896123 21896123 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 21896123 21896123 G A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known silent c.1506 p.R502 0.992 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 CHD8 HGNC ENSG00000100888 116 0 0 94 25 21.0084 MYH7 0 genome.wustl.edu 37 14 23885266 23885266 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 23885266 23885266 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4900 p.R1634C 1.000 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,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 110 0 0 82 24 22.6415 JPH4 0 genome.wustl.edu 37 14 24040254 24040254 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 24040254 24040254 C T SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known silent c.1686 p.T562 0.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 93 0 0 55 18 24.6575 PCK2 0 genome.wustl.edu 37 14 24572402 24572402 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 24572402 24572402 G A SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known missense c.1406 p.R469H 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 70 0 0 39 12 23.5294 RIPK3 0 genome.wustl.edu 37 14 24806443 24806443 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 24806443 24806443 T C SNP RIPK3 ENST00000216274 human ensembl 74_37 -1 known missense c.1124 p.Q375R 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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK3 HGNC ENSG00000129465 203 0 0 163 49 23.1132 NFATC4 0 genome.wustl.edu 37 14 24846139 24846139 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 24846139 24846139 A G SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.2885 p.H962R 0.197 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 12 0 0 10 4 28.5714 COCH 0 genome.wustl.edu 37 14 31348147 31348147 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 31348147 31348147 A G SNP COCH ENST00000216361 human ensembl 74_37 +1 known missense c.370 p.T124A 0.978 superfamily_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 266 0 0 209 42 16.7331 WDHD1 0 genome.wustl.edu 37 14 55411081 55411081 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 55411081 55411081 C T SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known missense c.3158 p.R1053Q 1.000 superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 190 0 0 120 33 21.5686 SOCS4 0 genome.wustl.edu 37 14 55510977 55510977 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 55510977 55510977 C T SNP SOCS4 ENST00000339298 human ensembl 74_37 +1 known silent c.1218 p.I406 0.979 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 164 0 0 124 38 23.4568 FBXO34 0 genome.wustl.edu 37 14 55818441 55818441 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 55818441 55818441 C T SNP FBXO34 ENST00000313833 human ensembl 74_37 +1 known nonsense c.1333 p.R445* 0.006 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 307 0 0 237 69 22.549 ATG14 0 genome.wustl.edu 37 14 55836623 55836623 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 55836623 55836623 C T SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known missense c.1193 p.R398Q 0.878 NULL pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 119 0 0 100 9 8.25688 TMEM260 0 genome.wustl.edu 37 14 57052563 57052563 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 57052563 57052563 C T SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known missense c.277 p.R93C 1.000 pfam_DUF2723 pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 318 0 0 235 63 21.1409 EXOC5 0 genome.wustl.edu 37 14 57714400 57714400 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 57714400 57714400 G A SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known missense c.58 p.R20C 0.996 NULL pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 11 0 0 4 3 42.8571 AP5M1 0 genome.wustl.edu 37 14 57735870 57735870 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 57735870 57735870 G A SNP AP5M1 ENST00000554213 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors AP5M1 HGNC ENSG00000053770 14 0 0 7 2 22.2222 PPP1R36 0 genome.wustl.edu 37 14 65054921 65054921 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 65054921 65054921 C T SNP PPP1R36 ENST00000298705 human ensembl 74_37 +1 known silent c.990 p.N330 0.015 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 215 0 0 129 42 24.5614 PLEKHG3 0 genome.wustl.edu 37 14 65208796 65208796 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 65208796 65208796 T C SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.2561 p.L854P 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 52 0 0 61 12 16.4384 FNTB 0 genome.wustl.edu 37 14 65520041 65520041 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 65520041 65520041 G A SNP FNTB ENST00000447296 human ensembl 74_37 +1 known silent c.1143 p.A381 0.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 52 0 0 29 14 32.5581 MAP3K9 0 genome.wustl.edu 37 14 71200020 71200020 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 71200020 71200020 C T SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known missense c.2108 p.R703H 0.386 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,superfamily_Regulat_G_prot_signal_superfam,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 MAP3K9 HGNC ENSG00000006432 46 0 0 38 9 19.1489 RBM25 0 genome.wustl.edu 37 14 73554751 73554751 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 73554751 73554751 G A SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.425 p.R142H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 145 0 0 111 22 16.5414 CCDC176 0 genome.wustl.edu 37 14 74514756 74514756 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 74514756 74514756 T C SNP CCDC176 ENST00000394009 human ensembl 74_37 +1 known silent c.771 p.H257 0.000 NULL NULL - no_errors CCDC176 HGNC ENSG00000119636 89 0 0 71 10 12.3457 LTBP2 0 genome.wustl.edu 37 14 74995349 74995349 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 74995349 74995349 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.2205 p.S735 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 81 0 0 44 20 31.25 YLPM1 0 genome.wustl.edu 37 14 75265268 75265268 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 75265268 75265268 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.3268 p.R1090W 0.960 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 69 0 0 68 23 25.2747 TMED10 0 genome.wustl.edu 37 14 75643173 75643173 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 75643173 75643173 G A SNP TMED10 ENST00000303575 human ensembl 74_37 -1 known missense c.110 p.P37L 1.000 pfam_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED10 HGNC ENSG00000170348 124 0 0 63 16 20.2532 NRXN3 0 genome.wustl.edu 37 14 80328296 80328296 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 80328296 80328296 T C SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known missense c.3175 p.Y1059H 1.000 NULL 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 NRXN3 HGNC ENSG00000021645 38 0 0 27 9 25 TSHR 0 genome.wustl.edu 37 14 81610228 81610228 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 81610228 81610228 G A SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.1826 p.R609Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 446 1 0.223714 351 88 20.0456 FLRT2 0 genome.wustl.edu 37 14 86088134 86088134 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 86088134 86088134 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known silent c.276 p.T92 0.048 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 247 0 0 166 51 23.5023 KCNK10 0 genome.wustl.edu 37 14 88652183 88652183 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 88652183 88652183 G A SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.1328 p.A443V 0.981 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 129 0 0 117 36 23.5294 PTPN21 0 genome.wustl.edu 37 14 88945665 88945665 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 88945665 88945665 C A SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.2110 p.A704S 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 53 0 0 48 9 15.7895 TDP1 0 genome.wustl.edu 37 14 90429630 90429630 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 90429630 90429630 A G SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known missense c.172 p.R58G 0.969 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 164 1 0.606061 120 41 25.4658 DICER1 0 genome.wustl.edu 37 14 95583999 95583999 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 95583999 95583999 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.1469 p.R490H 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 207 0 0 149 44 22.7979 SYNE3 0 genome.wustl.edu 37 14 95912388 95912388 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 95912388 95912388 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.1490 p.T497M 0.104 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 194 0 0 161 40 19.9005 BCL11B 0 genome.wustl.edu 37 14 99723922 99723922 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 99723922 99723922 C T SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.313 p.E105K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 103 0 0 85 25 22.7273 LRRK1 0 genome.wustl.edu 37 15 101569367 101569367 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 101569367 101569367 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known nonsense c.2893 p.Q965* 0.289 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 69 0 0 45 14 23.7288 LRRK1 0 genome.wustl.edu 37 15 101606891 101606891 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 101606891 101606891 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.5815 p.A1939T 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 317 0 0 234 61 20.678 SNRPA1 0 genome.wustl.edu 37 15 101821975 101821975 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 101821975 101821975 T C SNP SNRPA1 ENST00000254193 human ensembl 74_37 -1 known missense c.722 p.D241G 0.999 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC ENSG00000131876 90 0 0 78 17 17.8947 DNM1P47 0 genome.wustl.edu 37 15 102304770 102304770 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 102304770 102304770 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors DNM1P47 HGNC ENSG00000259660 20 0 0 12 3 20 DNM1P47 0 genome.wustl.edu 37 15 102304869 102304869 + RNA SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 102304869 102304869 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DNM1P47 HGNC ENSG00000259660 18 0 0 16 5 23.8095 HERC2P3 0 genome.wustl.edu 37 15 20643883 20643883 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 20643883 20643883 G A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 243 0 0 225 17 7.02479 NIPA2 0 genome.wustl.edu 37 15 23014510 23014510 + Missense_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 23014510 23014510 G C SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known missense c.215 p.A72G 1.000 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 24 0 0 15 5 25 MAGEL2 0 genome.wustl.edu 37 15 23890346 23890346 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 23890346 23890346 C T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known silent c.735 p.S245 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 108 0 0 90 22 19.6429 SNORD116-20 0 genome.wustl.edu 37 15 25332944 25332944 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 25332944 25332944 C T SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-20 HGNC ENSG00000261069 162 0 0 120 32 21.0526 SNHG14 0 genome.wustl.edu 37 15 25453173 25453173 + RNA SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 25453173 25453173 T C SNP SNHG14 ENST00000424333 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors SNHG14 HGNC ENSG00000224078 153 0 0 102 34 25 SNHG14 0 genome.wustl.edu 37 15 25458718 25458718 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 25458718 25458718 G A SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 58 0 0 57 18 24 HERC2 0 genome.wustl.edu 37 15 28408251 28408251 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 28408251 28408251 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10735 p.A3579T 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 77 0 0 58 35 37.6344 TJP1 0 genome.wustl.edu 37 15 30011319 30011319 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 30011319 30011319 G A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known silent c.3027 p.P1009 0.581 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 255 1 0.390625 192 70 26.7176 RYR3 0 genome.wustl.edu 37 15 33831643 33831643 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 33831643 33831643 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.526 p.V176M 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 32 0 0 11 3 21.4286 RYR3 0 genome.wustl.edu 37 15 33988594 33988594 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 33988594 33988594 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.6036 p.S2012 0.997 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 120 0 0 68 23 25.2747 RYR3 0 genome.wustl.edu 37 15 34145782 34145782 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 34145782 34145782 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.13698 p.Y4566 0.861 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 79 0 0 53 16 23.1884 KATNBL1 0 genome.wustl.edu 37 15 34445071 34445071 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 34445071 34445071 T C SNP KATNBL1 ENST00000256544 human ensembl 74_37 -1 known missense c.358 p.T120A 0.793 NULL NULL - no_errors KATNBL1 HGNC ENSG00000134152 193 0 0 186 10 5.10204 SLC12A6 0 genome.wustl.edu 37 15 34531353 34531353 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 34531353 34531353 C T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known silent c.2418 p.K806 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 216 1 0.460829 189 53 21.9008 MEIS2 0 genome.wustl.edu 37 15 37187361 37187361 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 37187361 37187361 G A SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known missense c.1138 p.R380W 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 125 0 0 65 19 22.619 THBS1 0 genome.wustl.edu 37 15 39875834 39875834 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 39875834 39875834 T C SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.644 p.V215A 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 146 1 0.680272 105 29 21.6418 FSIP1 0 genome.wustl.edu 37 15 40018788 40018788 + Splice_Site SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 40018788 40018788 A G SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known splice_site c.1050+2 e8+2 0.897 - - - no_errors FSIP1 HGNC ENSG00000150667 120 0 0 87 16 15.534 KNSTRN 0 genome.wustl.edu 37 15 40683717 40683717 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 40683717 40683717 T G SNP KNSTRN ENST00000249776 human ensembl 74_37 +1 known missense c.709 p.S237A 0.000 NULL NULL - no_errors KNSTRN HGNC ENSG00000128944 136 0 0 82 24 22.6415 CHAC1 0 genome.wustl.edu 37 15 41247781 41247781 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 41247781 41247781 G A SNP CHAC1 ENST00000446533 human ensembl 74_37 +1 known missense c.604 p.A202T 1.000 pfam_ChaC pfam_ChaC - no_errors CHAC1 HGNC ENSG00000128965 211 1 0.471698 140 38 21.3483 DUOX2 0 genome.wustl.edu 37 15 45386840 45386840 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 45386840 45386840 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4445 p.T1482M 1.000 pfam_Fe_red_NAD-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 28 0 0 22 9 29.0323 DUOX1 0 genome.wustl.edu 37 15 45444515 45444515 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 45444515 45444515 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.3225 p.I1075 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 52 0 0 35 11 23.913 MYEF2 0 genome.wustl.edu 37 15 48459562 48459562 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 48459562 48459562 G A SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known missense c.407 p.A136V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 121 0 0 92 25 21.3675 SECISBP2L 0 genome.wustl.edu 37 15 49304949 49304949 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 49304949 49304949 G A SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.1627 p.P543S 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 205 0 0 143 37 20.5556 GALK2 0 genome.wustl.edu 37 15 49493385 49493385 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 49493385 49493385 A G SNP GALK2 ENST00000560031 human ensembl 74_37 +1 known missense c.80 p.N27S 0.954 pfam_GalKase_gal-bd,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase - no_errors GALK2 HGNC ENSG00000156958 80 0 0 62 12 16.2162 ATP8B4 0 genome.wustl.edu 37 15 50215592 50215592 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 50215592 50215592 G A SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1742 p.T581M 0.981 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp 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 ATP8B4 HGNC ENSG00000104043 115 0 0 84 21 20 TMOD3 0 genome.wustl.edu 37 15 52194210 52194210 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 52194210 52194210 C T SNP TMOD3 ENST00000308580 human ensembl 74_37 +1 known missense c.1001 p.A334V 1.000 NULL pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 97 0 0 73 20 21.5054 MYO5A 0 genome.wustl.edu 37 15 52662454 52662454 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 52662454 52662454 G A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.2978 p.A993V 1.000 NULL 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 199 0 0 159 50 23.9234 WDR72 0 genome.wustl.edu 37 15 53907708 53907708 + Missense_Mutation SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 53907708 53907708 C G SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.2695 p.D899H 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 114 0 0 80 22 21.5686 UNC13C 0 genome.wustl.edu 37 15 54307652 54307652 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 54307652 54307652 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2552 p.D851G 1.000 NULL 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 106 0 0 97 22 18.4874 RFX7 0 genome.wustl.edu 37 15 56388135 56388135 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 56388135 56388135 G A SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known silent c.1791 p.D597 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 69 0 0 49 16 24.6154 ALDH1A2 0 genome.wustl.edu 37 15 58287284 58287284 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 58287284 58287284 T A SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.547 p.I183F 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 214 0 0 177 62 25.9414 TLN2 0 genome.wustl.edu 37 15 62978963 62978963 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 62978963 62978963 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.1081 p.R361C 1.000 pfam_Insln_rcpt_S1,pfscan_FERM_domain 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 62 0 0 42 10 19.2308 TLN2 0 genome.wustl.edu 37 15 63004122 63004122 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 63004122 63004122 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.2480 p.R827H 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 78 0 0 59 17 22.3684 HERC1 0 genome.wustl.edu 37 15 63990925 63990925 + Splice_Site SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 63990925 63990925 A G SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known splice_site c.4905+2 e25+2 1.000 - - - no_errors HERC1 HGNC ENSG00000103657 46 0 0 39 9 18.75 TRIP4 0 genome.wustl.edu 37 15 64717782 64717782 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 64717782 64717782 C T SNP TRIP4 ENST00000261884 human ensembl 74_37 +1 known silent c.1527 p.G509 0.998 pfam_ASCH_domain,superfamily_PUA-like_domain pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 238 0 0 160 47 22.7053 CILP 0 genome.wustl.edu 37 15 65491212 65491212 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 65491212 65491212 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.1412 p.T471M 0.998 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 58 0 0 52 9 14.7541 IGDCC4 0 genome.wustl.edu 37 15 65702545 65702545 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 65702545 65702545 C A SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.534 p.K178N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 110 1 0.900901 81 16 16.4948 DENND4A 0 genome.wustl.edu 37 15 66048497 66048497 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 66048497 66048497 G A SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.292 p.P98S 1.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 36 0 0 33 9 21.4286 MAP2K1 0 genome.wustl.edu 37 15 66737006 66737006 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 66737006 66737006 C A SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known missense c.529 p.L177M 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 193 0 0 122 38 23.75 FEM1B 0 genome.wustl.edu 37 15 68583129 68583129 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 68583129 68583129 A T SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.1433 p.D478V 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 293 0 0 231 63 21.4286 TLE3 0 genome.wustl.edu 37 15 70345628 70345628 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 70345628 70345628 T G SNP TLE3 ENST00000558939 human ensembl 74_37 -1 known missense c.1921 p.T641P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 11 0 0 4 4 50 THSD4 0 genome.wustl.edu 37 15 72039263 72039263 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 72039263 72039263 C T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2123 p.A708V 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 THSD4 HGNC ENSG00000187720 38 0 0 33 13 28.2609 STRA6 0 genome.wustl.edu 37 15 74490099 74490099 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 74490099 74490099 C T SNP STRA6 ENST00000563965 human ensembl 74_37 -1 known silent c.291 p.S97 0.181 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 51 0 0 44 18 29.0323 CCDC33 0 genome.wustl.edu 37 15 74536466 74536466 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 74536466 74536466 C T SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known silent c.771 p.S257 0.055 pfam_C2_dom,superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 90 0 0 65 20 23.5294 CYP1A2 0 genome.wustl.edu 37 15 75042486 75042486 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 75042486 75042486 G A SNP CYP1A2 ENST00000343932 human ensembl 74_37 +1 known missense c.407 p.R136H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 191 1 0.520833 157 48 23.4146 CYP1A2 0 genome.wustl.edu 37 15 75047412 75047412 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 75047412 75047412 C T SNP CYP1A2 ENST00000343932 human ensembl 74_37 +1 known missense c.1534 p.R512C 0.871 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 49 0 0 32 9 21.9512 SCAMP5 0 genome.wustl.edu 37 15 75308975 75308975 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 75308975 75308975 G A SNP SCAMP5 ENST00000562212 human ensembl 74_37 +1 known missense c.178 p.A60T 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 102 0 0 60 25 29.4118 CSPG4 0 genome.wustl.edu 37 15 75968067 75968067 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 75968067 75968067 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.6793 p.R2265C 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 95 0 0 78 23 22.7723 CSPG4 0 genome.wustl.edu 37 15 75981657 75981657 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 75981657 75981657 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.1749 p.P583 0.001 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 45 0 0 39 13 25 PEAK1 0 genome.wustl.edu 37 15 77426055 77426055 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 77426055 77426055 T C SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known silent c.3369 p.P1123 0.564 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 161 0 0 92 30 24.5902 CHRNA3 0 genome.wustl.edu 37 15 78894011 78894011 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 78894011 78894011 C T SNP CHRNA3 ENST00000326828 human ensembl 74_37 -1 known missense c.973 p.V325M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,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 213 0 0 168 45 21.1268 ADAMTS7 0 genome.wustl.edu 37 15 79063957 79063957 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 79063957 79063957 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.2346 p.P782 0.116 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 30 0 0 19 5 20.8333 ABHD17C 0 genome.wustl.edu 37 15 81041945 81041945 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 81041945 81041945 G A SNP ABHD17C ENST00000258884 human ensembl 74_37 +1 known missense c.682 p.A228T 1.000 pfam_Peptidase_S9,pfam_Dienelactn_hydro pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors ABHD17C HGNC ENSG00000136379 120 0 0 84 27 24.3243 TMC3 0 genome.wustl.edu 37 15 81666342 81666342 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 81666342 81666342 G A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.77 p.S26F 1.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 39 0 0 36 11 23.4043 FAM154B 0 genome.wustl.edu 37 15 82564031 82564031 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 82564031 82564031 T C SNP FAM154B ENST00000339465 human ensembl 74_37 +1 known silent c.141 p.G47 0.156 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 105 0 0 87 9 9.375 ADAMTSL3 0 genome.wustl.edu 37 15 84651204 84651204 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 84651204 84651204 T C SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.2824 p.S942P 0.916 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 164 0 0 103 35 25.3623 ALPK3 0 genome.wustl.edu 37 15 85383249 85383249 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 85383249 85383249 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.1345 p.L449 0.006 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 48 0 0 24 11 31.4286 NTRK3 0 genome.wustl.edu 37 15 88680684 88680684 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 88680684 88680684 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known silent c.573 p.N191 0.000 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 68 0 0 55 19 25.6757 C15orf38-AP3S2 0 genome.wustl.edu 37 15 90451554 90451554 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 90451554 90451554 C T SNP C15orf38-AP3S2 ENST00000398333 human ensembl 74_37 -1 known missense c.259 p.A87T 1.000 pfam_UPF0552 pfam_UPF0552,pfam_AP_mu_sigma_su,superfamily_Longin-like_dom - no_errors C15orf38-AP3S2 HGNC ENSG00000250021 79 0 0 77 26 25.2427 TTLL13 0 genome.wustl.edu 37 15 90799471 90799471 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 90799471 90799471 G A SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.647 p.R216Q 0.930 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 115 0 0 77 26 25.2427 TTLL13 0 genome.wustl.edu 37 15 90800412 90800412 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 90800412 90800412 G A SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.748 p.V250I 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 121 0 0 97 30 23.622 CHD2 0 genome.wustl.edu 37 15 93489428 93489428 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 93489428 93489428 C T SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known silent c.1359 p.I453 1.000 pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 95 0 0 85 25 22.7273 RGMA 0 genome.wustl.edu 37 15 93595502 93595502 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 93595502 93595502 C T SNP RGMA ENST00000329082 human ensembl 74_37 -1 known silent c.366 p.S122 0.882 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 56 0 0 34 14 29.1667 PGPEP1L 0 genome.wustl.edu 37 15 99511846 99511846 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 99511846 99511846 G A SNP PGPEP1L ENST00000378919 human ensembl 74_37 -1 known missense c.452 p.S151L 0.325 superfamily_Peptidase_C15-like pfam_Peptidase_C15,superfamily_Peptidase_C15-like - no_errors PGPEP1L HGNC ENSG00000183571 16 0 0 15 5 25 TPSD1 0 genome.wustl.edu 37 16 1306669 1306669 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 1306669 1306669 G A SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known missense c.235 p.A79T 0.991 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 77 0 0 58 21 26.5823 TSR3 0 genome.wustl.edu 37 16 1400145 1400145 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 1400145 1400145 G A SNP TSR3 ENST00000007390 human ensembl 74_37 -1 known missense c.617 p.A206V 0.945 pfam_DUF367 pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC ENSG00000007520 29 0 0 19 2 9.52381 BFAR 0 genome.wustl.edu 37 16 14743706 14743706 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 14743706 14743706 G A SNP BFAR ENST00000261658 human ensembl 74_37 +1 known missense c.514 p.D172N 0.991 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 101 0 0 67 21 23.8636 MYH11 0 genome.wustl.edu 37 16 15811163 15811163 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 15811163 15811163 C T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.5359 p.A1787T 0.944 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 117 0 0 88 17 16.1905 MYH11 0 genome.wustl.edu 37 16 15814829 15814829 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 15814829 15814829 T C SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.4679 p.D1560G 0.999 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 117 1 0.847458 74 24 24.4898 MYH11 0 genome.wustl.edu 37 16 15853542 15853542 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 15853542 15853542 C T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.1313 p.R438H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 111 0 0 89 35 28.2258 ABCC6 0 genome.wustl.edu 37 16 16267261 16267261 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 16267261 16267261 C T SNP ABCC6 ENST00000456970 human ensembl 74_37 -1 known missense c.2492 p.G831D 0.742 smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCC6 HGNC ENSG00000091262 230 0 0 144 40 21.7391 CRAMP1L 0 genome.wustl.edu 37 16 1712579 1712579 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 1712579 1712579 G A SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known silent c.2502 p.P834 0.240 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 151 0 0 97 36 27.0677 XYLT1 0 genome.wustl.edu 37 16 17202689 17202689 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 17202689 17202689 T C SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.2743 p.T915A 0.989 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 58 0 0 34 5 12.8205 EME2 0 genome.wustl.edu 37 16 1824335 1824335 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 1824335 1824335 C T SNP EME2 ENST00000307394 human ensembl 74_37 +1 known silent c.459 p.G153 0.103 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 72 0 0 63 11 14.8649 SPSB3 0 genome.wustl.edu 37 16 1827312 1827312 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 1827312 1827312 A C SNP SPSB3 ENST00000301717 human ensembl 74_37 -1 known missense c.854 p.L285R 1.000 superfamily_ConA-like_lec_gl_sf,smart_SOCS_C,pfscan_SOCS_C pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB3 HGNC ENSG00000162032 53 0 0 28 8 22.2222 SYT17 0 genome.wustl.edu 37 16 19278340 19278340 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 19278340 19278340 G A SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known missense c.1367 p.S456N 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 50 0 0 38 18 32.1429 PDILT 0 genome.wustl.edu 37 16 20380924 20380924 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 20380924 20380924 C T SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.1006 p.V336I 0.745 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 280 0 0 182 59 24.4813 UQCRC2 0 genome.wustl.edu 37 16 21983256 21983256 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 21983256 21983256 A T SNP UQCRC2 ENST00000268379 human ensembl 74_37 +1 known missense c.779 p.E260V 0.939 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC2 HGNC ENSG00000140740 125 0 0 92 19 17.1171 MLST8 0 genome.wustl.edu 37 16 2258729 2258729 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 2258729 2258729 G A SNP MLST8 ENST00000301724 human ensembl 74_37 +1 putative missense c.977 p.R326H 0.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MLST8 HGNC ENSG00000167965 183 0 0 124 39 23.9264 USP31 0 genome.wustl.edu 37 16 23091276 23091276 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 23091276 23091276 G A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.2167 p.H723Y 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 84 0 0 46 18 28.125 USP31 0 genome.wustl.edu 37 16 23096246 23096246 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 23096246 23096246 G T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.1765 p.R589S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 504 0 0 419 88 17.357 PALB2 0 genome.wustl.edu 37 16 23614847 23614847 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 23614847 23614847 G A SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known missense c.3494 p.S1165L 0.994 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 172 0 0 127 42 24.8521 AMDHD2 0 genome.wustl.edu 37 16 2577818 2577818 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 2577818 2577818 G A SNP AMDHD2 ENST00000413459 human ensembl 74_37 +1 known missense c.460 p.A154T 1.000 superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 21 0 0 5 5 50 GTF3C1 0 genome.wustl.edu 37 16 27539991 27539991 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 27539991 27539991 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.901 p.G301R 0.871 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 232 0 0 146 50 25.5102 KIAA0556 0 genome.wustl.edu 37 16 27784524 27784524 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 27784524 27784524 G A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.4303 p.E1435K 0.999 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 33 0 0 30 3 9.09091 SRRM2 0 genome.wustl.edu 37 16 2810378 2810378 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 2810378 2810378 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.910 p.G304R 0.979 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 55 0 0 36 7 16.2791 XPO6 0 genome.wustl.edu 37 16 28117503 28117503 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 28117503 28117503 C T SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.2645 p.G882D 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 100 0 0 94 6 6 APOBR 0 genome.wustl.edu 37 16 28509138 28509138 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 28509138 28509138 G A SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.2776 p.G926R 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 18 0 0 12 5 29.4118 IL27 0 genome.wustl.edu 37 16 28511129 28511129 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 28511129 28511129 G A SNP IL27 ENST00000356897 human ensembl 74_37 -1 known missense c.575 p.P192L 0.001 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 11 0 0 3 3 50 ATP2A1 0 genome.wustl.edu 37 16 28906263 28906263 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 28906263 28906263 G A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.1408 p.A470T 0.999 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA 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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 64 0 0 55 13 19.1176 LOC101928215 0 genome.wustl.edu 37 16 29115246 29115246 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 29115246 29115246 G A SNP LOC101928215 ENST00000562618 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTB-134H23.3 Clone_based_vega_gene ENSG00000260908 16 0 0 8 4 33.3333 PAGR1 0 genome.wustl.edu 37 16 29828545 29828545 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 29828545 29828545 C T SNP PAGR1 ENST00000609618 human ensembl 74_37 +1 known missense c.497 p.T166M 1.000 NULL NULL - no_errors PAGR1 Uniprot_gn ENSG00000263136 60 0 0 43 14 24.5614 TAOK2 0 genome.wustl.edu 37 16 29999115 29999115 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 29999115 29999115 G A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known silent c.3522 p.P1174 0.133 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 TAOK2 HGNC ENSG00000149930 46 0 0 41 18 30.5085 GDPD3 0 genome.wustl.edu 37 16 30124065 30124065 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 30124065 30124065 G A SNP GDPD3 ENST00000406256 human ensembl 74_37 -1 known missense c.232 p.R78W 0.005 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD3 HGNC ENSG00000102886 71 0 0 65 22 25.2874 PRR14 0 genome.wustl.edu 37 16 30666220 30666220 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 30666220 30666220 G A SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known missense c.929 p.R310H 1.000 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 52 0 0 45 10 18.1818 SRCAP 0 genome.wustl.edu 37 16 30723463 30723463 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 30723463 30723463 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.1800 p.T600 0.703 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 129 0 0 73 32 30.4762 RNF40 0 genome.wustl.edu 37 16 30779279 30779279 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 30779279 30779279 A G SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known silent c.1494 p.K498 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 168 0 0 128 31 19.4969 ZNF646 0 genome.wustl.edu 37 16 31092480 31092480 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31092480 31092480 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.4835 p.S1612N 0.309 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 79 0 0 66 18 21.4286 KAT8 0 genome.wustl.edu 37 16 31138555 31138555 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31138555 31138555 G A SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.562 p.E188K 1.000 superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 154 0 0 108 34 23.9437 TRIM72 0 genome.wustl.edu 37 16 31232241 31232241 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31232241 31232241 T C SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known splice_site c.740+2 e4+2 1.000 - - - no_errors TRIM72 HGNC ENSG00000177238 140 1 0.70922 125 34 21.3836 ITGAM 0 genome.wustl.edu 37 16 31283278 31283278 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31283278 31283278 G T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known silent c.669 p.G223 0.010 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 145 1 0.684932 89 18 16.8224 ITGAM 0 genome.wustl.edu 37 16 31284825 31284825 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31284825 31284825 C T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.844 p.R282C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 94 0 0 66 30 31.25 ZSCAN10 0 genome.wustl.edu 37 16 3140022 3140022 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 3140022 3140022 C T SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known silent c.1248 p.P416 0.000 NULL 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 14 0 0 6 5 45.4545 ARMC5 0 genome.wustl.edu 37 16 31473837 31473837 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31473837 31473837 C T SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known silent c.1254 p.G418 0.335 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 69 0 0 51 17 25 C16orf58 0 genome.wustl.edu 37 16 31510649 31510649 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31510649 31510649 T C SNP C16orf58 ENST00000327237 human ensembl 74_37 -1 known missense c.574 p.T192A 0.564 pfam_RUS2/WXR1 pfam_RUS2/WXR1 - no_errors C16orf58 HGNC ENSG00000140688 34 0 0 20 3 13.0435 ZNF213 0 genome.wustl.edu 37 16 3191292 3191292 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 3191292 3191292 G A SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known missense c.1324 p.A442T 0.990 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 65 0 0 40 10 20 ZNF267 0 genome.wustl.edu 37 16 31927586 31927586 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31927586 31927586 G A SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known silent c.2016 p.R672 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 ZNF267 HGNC ENSG00000185947 151 0 0 90 27 23.0769 AXIN1 0 genome.wustl.edu 37 16 338227 338227 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 338227 338227 G A SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known silent c.2484 p.S828 0.997 pfam_DIX,smart_DIX,pfscan_DIX 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 AXIN1 HGNC ENSG00000103126 137 1 0.724638 100 40 28.5714 MRPL28 0 genome.wustl.edu 37 16 418565 418565 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 418565 418565 C T SNP MRPL28 ENST00000199706 human ensembl 74_37 -1 known missense c.512 p.R171Q 0.998 NULL NULL - no_errors MRPL28 HGNC ENSG00000086504 67 0 0 51 12 19.0476 CORO7-PAM16 0 genome.wustl.edu 37 16 4463375 4463375 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 4463375 4463375 C T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.91 p.A31T 0.000 NULL pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 20 0 0 8 3 27.2727 VPS35 0 genome.wustl.edu 37 16 46714715 46714715 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 46714715 46714715 G T SNP VPS35 ENST00000299138 human ensembl 74_37 -1 known missense c.374 p.S125Y 1.000 pfam_VPS35 pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 162 0 0 108 31 22.3022 N4BP1 0 genome.wustl.edu 37 16 48594921 48594921 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 48594921 48594921 G A SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known missense c.1633 p.R545C 0.026 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 235 0 0 169 41 19.5238 PPL 0 genome.wustl.edu 37 16 4950862 4950862 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 4950862 4950862 C A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.575 p.S192I 0.912 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 267 1 0.373134 248 27 9.81818 ZNF423 0 genome.wustl.edu 37 16 49670430 49670430 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 49670430 49670430 T C SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2633 p.D878G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 118 0 0 79 20 20.202 CES5A 0 genome.wustl.edu 37 16 55903594 55903594 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 55903594 55903594 G A SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.567 p.S189 0.861 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 40 0 0 38 15 28.3019 NLRC5 0 genome.wustl.edu 37 16 57060576 57060576 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 57060576 57060576 G A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.1721 p.R574H 0.007 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 112 0 0 79 19 19.3878 NLRC5 0 genome.wustl.edu 37 16 57060597 57060597 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 57060597 57060597 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.1742 p.A581V 0.844 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 100 0 0 93 22 19.1304 POLR2C 0 genome.wustl.edu 37 16 57503122 57503122 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 57503122 57503122 A G SNP POLR2C ENST00000219252 human ensembl 74_37 +1 known missense c.304 p.T102A 1.000 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 148 0 0 117 29 19.863 GPR56 0 genome.wustl.edu 37 16 57695814 57695814 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 57695814 57695814 T A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.1888 p.F630I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 115 0 0 75 22 22.6804 CNGB1 0 genome.wustl.edu 37 16 57918222 57918222 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 57918222 57918222 G A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.3602 p.P1201L 0.428 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 18 0 0 24 5 17.2414 C16orf80 0 genome.wustl.edu 37 16 58149340 58149340 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 58149340 58149340 G A SNP C16orf80 ENST00000262498 human ensembl 74_37 -1 known missense c.298 p.R100C 1.000 pfam_DUF667 pfam_DUF667 - no_errors C16orf80 HGNC ENSG00000070761 81 0 0 46 20 30.303 PRSS54 0 genome.wustl.edu 37 16 58314269 58314269 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 58314269 58314269 C T SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known silent c.1047 p.A349 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 129 0 0 112 25 18.2482 CA7 0 genome.wustl.edu 37 16 66881124 66881124 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 66881124 66881124 C T SNP CA7 ENST00000338437 human ensembl 74_37 +1 known nonsense c.232 p.R78* 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA7 HGNC ENSG00000168748 30 0 0 22 9 29.0323 CTCF 0 genome.wustl.edu 37 16 67662409 67662409 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 67662409 67662409 C A SNP CTCF ENST00000264010 human ensembl 74_37 +1 known missense c.1655 p.P552H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 226 0 0 188 16 7.84314 EDC4 0 genome.wustl.edu 37 16 67914081 67914081 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 67914081 67914081 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.2059 p.A687T 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 42 0 0 36 14 28 WWP2 0 genome.wustl.edu 37 16 69942692 69942692 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 69942692 69942692 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.943 p.R315C 0.993 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 204 0 0 145 52 26.3959 WWP2 0 genome.wustl.edu 37 16 69963368 69963368 + Nonsense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 69963368 69963368 G T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known nonsense c.1252 p.G418* 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 76 0 0 58 20 25.641 PDPR 0 genome.wustl.edu 37 16 70172927 70172927 + Splice_Site SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 70172927 70172927 G A SNP PDPR ENST00000288050 human ensembl 74_37 +1 known splice_site c.1315+1 e9+1 1.000 - - - no_errors PDPR HGNC ENSG00000090857 58 0 0 49 10 16.9492 FUK 0 genome.wustl.edu 37 16 70501297 70501297 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 70501297 70501297 C T SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.601 p.R201W 1.000 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 24 0 0 14 5 26.3158 PHLPP2 0 genome.wustl.edu 37 16 71690580 71690580 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 71690580 71690580 T C SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.2284 p.I762V 1.000 NULL 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 252 0 0 177 58 24.6809 RHOT2 0 genome.wustl.edu 37 16 722950 722950 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 722950 722950 C T SNP RHOT2 ENST00000315082 human ensembl 74_37 +1 known missense c.1550 p.T517I 0.998 pirsf_Rho_GTPase_Mt,pfam_MIRO-like,superfamily_P-loop_NTPase pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_hand_dom - no_errors RHOT2 HGNC ENSG00000140983 89 0 0 63 14 18.1818 ZFHX3 0 genome.wustl.edu 37 16 72992888 72992888 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 72992888 72992888 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.1157 p.G386D 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 190 0 0 117 41 25.9494 BCAR1 0 genome.wustl.edu 37 16 75263765 75263765 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 75263765 75263765 C T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.2395 p.A799T 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 85 0 0 54 13 19.403 CNTNAP4 0 genome.wustl.edu 37 16 76555939 76555939 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 76555939 76555939 C T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.2537 p.P846L 1.000 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_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,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 277 0 0 213 56 20.8178 PKD1L2 0 genome.wustl.edu 37 16 81249919 81249919 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 81249919 81249919 C T SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known missense c.394 p.G132R 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 82 0 0 76 25 24.7525 PKD1L2 0 genome.wustl.edu 37 16 81253808 81253808 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 81253808 81253808 G A SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known silent c.168 p.C56 0.711 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 145 0 0 94 35 27.1318 PLCG2 0 genome.wustl.edu 37 16 81934352 81934352 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 81934352 81934352 G A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.1329 p.S443 0.047 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C 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 42 0 0 41 7 14.5833 PLCG2 0 genome.wustl.edu 37 16 81944173 81944173 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 81944173 81944173 C T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.1782 p.G594 0.466 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,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 162 0 0 118 44 27.1605 PLCG2 0 genome.wustl.edu 37 16 81965249 81965249 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 81965249 81965249 T A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.2729 p.I910N 0.758 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma 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 138 0 0 97 18 15.6522 RPUSD1 0 genome.wustl.edu 37 16 836152 836152 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 836152 836152 G A SNP RPUSD1 ENST00000007264 human ensembl 74_37 -1 known missense c.737 p.S246L 0.066 NULL pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD1 HGNC ENSG00000007376 64 0 0 55 17 23.6111 MLYCD 0 genome.wustl.edu 37 16 83948976 83948976 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 83948976 83948976 G A SNP MLYCD ENST00000262430 human ensembl 74_37 +1 known missense c.1364 p.R455H 1.000 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 63 0 0 54 15 21.7391 TAF1C 0 genome.wustl.edu 37 16 84218535 84218535 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 84218535 84218535 G A SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known silent c.60 p.S20 0.001 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 23 0 0 25 5 16.6667 USP10 0 genome.wustl.edu 37 16 84806195 84806195 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 84806195 84806195 G A SNP USP10 ENST00000570191 human ensembl 74_37 +1 known missense c.2059 p.V687M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 298 0 0 252 73 22.4615 IRF8 0 genome.wustl.edu 37 16 85948086 85948086 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 85948086 85948086 G A SNP IRF8 ENST00000268638 human ensembl 74_37 +1 known silent c.561 p.P187 0.162 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC ENSG00000140968 80 0 0 34 12 26.087 SLC7A5 0 genome.wustl.edu 37 16 87872417 87872417 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 87872417 87872417 C T SNP SLC7A5 ENST00000261622 human ensembl 74_37 -1 known missense c.946 p.G316R 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 91 0 0 74 14 15.9091 GALNS 0 genome.wustl.edu 37 16 88901652 88901652 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 88901652 88901652 G A SNP GALNS ENST00000268695 human ensembl 74_37 -1 known silent c.867 p.N289 0.615 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 18 0 0 11 6 35.2941 ANKRD11 0 genome.wustl.edu 37 16 89345633 89345633 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 89345633 89345633 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.7317 p.F2439 0.995 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 47 0 0 24 6 20 TUBB3 0 genome.wustl.edu 37 16 90001817 90001817 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 90001817 90001817 C T SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.958 p.R320C 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_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 123 0 0 98 28 22.2222 TUSC5 0 genome.wustl.edu 37 17 1183640 1183640 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 1183640 1183640 C T SNP TUSC5 ENST00000333813 human ensembl 74_37 +1 known silent c.345 p.P115 0.755 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors TUSC5 HGNC ENSG00000184811 156 0 0 125 32 20.3822 MYOCD 0 genome.wustl.edu 37 17 12639605 12639605 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 12639605 12639605 C T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.543 p.D181 0.218 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 207 1 0.480769 171 42 19.7183 TRIM16 0 genome.wustl.edu 37 17 15532000 15532000 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 15532000 15532000 C T SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known missense c.1624 p.A542T 0.006 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 80 0 0 54 9 14.2857 NCOR1 0 genome.wustl.edu 37 17 15973548 15973548 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 15973548 15973548 G A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.4444 p.R1482W 0.999 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 384 0 0 324 82 20.197 ENSG00000226145 0 genome.wustl.edu 37 17 16722181 16722181 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 16722181 16722181 G A SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 47 0 0 26 14 35 ENSG00000226145 0 genome.wustl.edu 37 17 16723374 16723374 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 16723374 16723374 G A SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.928 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 109 1 0.909091 99 23 18.8525 RAI1 0 genome.wustl.edu 37 17 17699170 17699170 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 17699170 17699170 G A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.2908 p.A970T 0.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 43 0 0 30 11 26.8293 FLII 0 genome.wustl.edu 37 17 18148975 18148975 + Splice_Site SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 18148975 18148975 C A SNP FLII ENST00000327031 human ensembl 74_37 -1 known splice_site c.3504-1 e28-1 1.000 - - - no_errors FLII HGNC ENSG00000177731 180 0 0 142 45 24.0642 MIEF2 0 genome.wustl.edu 37 17 18167618 18167618 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 18167618 18167618 C T SNP MIEF2 ENST00000323019 human ensembl 74_37 +1 known missense c.905 p.A302V 0.005 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 124 0 0 82 23 21.9048 FBXW10 0 genome.wustl.edu 37 17 18647733 18647733 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 18647733 18647733 G T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.176 p.G59V 0.129 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 260 0 0 190 52 21.4876 RNF112 0 genome.wustl.edu 37 17 19319112 19319112 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 19319112 19319112 G A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel missense c.1520 p.R507H 0.000 NULL pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 47 0 0 34 24 41.3793 SMG6 0 genome.wustl.edu 37 17 2200581 2200581 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 2200581 2200581 A G SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.2107 p.Y703H 1.000 pfam_EST1 pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 232 0 0 175 36 17.0616 KIAA0100 0 genome.wustl.edu 37 17 26961681 26961681 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 26961681 26961681 G A SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.2924 p.A975V 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 173 0 0 129 37 22.2892 SUPT6H 0 genome.wustl.edu 37 17 27017981 27017981 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 27017981 27017981 G A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.3533 p.R1178H 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 68 0 0 47 17 26.5625 SUPT6H 0 genome.wustl.edu 37 17 27028023 27028023 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 27028023 27028023 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.4871 p.T1624M 1.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 187 0 0 155 51 24.7573 FLOT2 0 genome.wustl.edu 37 17 27209007 27209007 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 27209007 27209007 G A SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.739 p.R247C 0.982 smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 63 0 0 58 23 28.3951 PHF12 0 genome.wustl.edu 37 17 27238239 27238239 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 27238239 27238239 G A SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known silent c.2106 p.P702 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 75 0 0 47 10 17.5439 CORO6 0 genome.wustl.edu 37 17 27946167 27946167 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 27946167 27946167 G A SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known missense c.362 p.T121M 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 48 0 0 31 6 16.2162 CPD 0 genome.wustl.edu 37 17 28791650 28791650 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 28791650 28791650 T G SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.3961 p.C1321G 1.000 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 347 2 0.573066 223 80 26.4026 RAP1GAP2 0 genome.wustl.edu 37 17 2894595 2894595 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 2894595 2894595 T C SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.818 p.L273P 0.997 pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 21 0 0 15 3 16.6667 ADAP2 0 genome.wustl.edu 37 17 29280306 29280306 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 29280306 29280306 C T SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known missense c.742 p.L248F 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 54 0 0 41 14 25.4545 OR1D2 0 genome.wustl.edu 37 17 2996177 2996177 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 2996177 2996177 C T SNP OR1D2 ENST00000331459 human ensembl 74_37 -1 known silent c.114 p.T38 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 246 0 0 157 38 19.4872 ASPA 0 genome.wustl.edu 37 17 3402247 3402247 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 3402247 3402247 G A SNP ASPA ENST00000263080 human ensembl 74_37 +1 known silent c.807 p.T269 0.563 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 57 0 0 44 13 22.807 ZNHIT3 0 genome.wustl.edu 37 17 34848677 34848677 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 34848677 34848677 C T SNP ZNHIT3 ENST00000225410 human ensembl 74_37 +1 known missense c.139 p.R47C 0.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT3 HGNC ENSG00000108278 214 0 0 143 28 16.3743 MYO19 0 genome.wustl.edu 37 17 34869254 34869254 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 34869254 34869254 C T SNP MYO19 ENST00000586007 human ensembl 74_37 -1 known silent c.912 p.T304 0.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 69 0 0 55 17 23.6111 ACACA 0 genome.wustl.edu 37 17 35487138 35487138 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 35487138 35487138 C T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.5686 p.G1896R 0.765 pfam_Carboxyl_trans,pfscan_COA_CT_N 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 177 0 0 127 32 20.1258 SRCIN1 0 genome.wustl.edu 37 17 36708724 36708724 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 36708724 36708724 C A SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.2439 p.K813N 0.998 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 12 0 0 3 4 57.1429 PLXDC1 0 genome.wustl.edu 37 17 37234200 37234200 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 37234200 37234200 G T SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known silent c.1152 p.S384 0.991 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 110 0 0 84 22 20.7547 IKZF3 0 genome.wustl.edu 37 17 37922577 37922577 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 37922577 37922577 C T SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known silent c.996 p.S332 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 157 0 0 116 34 22.6667 ATP2A3 0 genome.wustl.edu 37 17 3851105 3851105 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 3851105 3851105 G T SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known silent c.675 p.A225 0.994 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase 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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 46 0 0 19 5 20.8333 TNS4 0 genome.wustl.edu 37 17 38635981 38635981 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 38635981 38635981 C T SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.1855 p.V619M 0.939 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 80 0 0 73 12 14.1176 KRT10 0 genome.wustl.edu 37 17 38976553 38976553 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 38976553 38976553 T G SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known missense c.990 p.E330D 0.025 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 273 0 0 259 29 10.0694 KRTAP4-2 0 genome.wustl.edu 37 17 39334156 39334156 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 39334156 39334156 T C SNP KRTAP4-2 ENST00000377726 human ensembl 74_37 -1 known silent c.261 p.R87 0.003 NULL NULL - no_errors KRTAP4-2 HGNC ENSG00000244537 93 0 0 80 19 19.1919 KRT36 0 genome.wustl.edu 37 17 39643638 39643638 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 39643638 39643638 C T SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known missense c.952 p.A318T 0.009 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 29 0 0 34 5 12.8205 KRT13 0 genome.wustl.edu 37 17 39658827 39658827 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 39658827 39658827 G A SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.1043 p.T348M 0.007 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 184 1 0.540541 134 34 20.2381 DHX58 0 genome.wustl.edu 37 17 40256929 40256929 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 40256929 40256929 C T SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.1418 p.R473Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 116 0 0 68 25 26.8817 KAT2A 0 genome.wustl.edu 37 17 40266539 40266539 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 40266539 40266539 C T SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known silent c.2103 p.R701 0.996 pirsf_Hist_acetylase_PCAF,superfamily_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 207 0 0 168 47 21.8605 PLEKHH3 0 genome.wustl.edu 37 17 40825735 40825735 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 40825735 40825735 G A SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known missense c.416 p.A139V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 39 0 0 19 7 26.9231 CNTNAP1 0 genome.wustl.edu 37 17 40839898 40839898 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 40839898 40839898 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1205 p.R402H 0.673 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 138 0 0 94 22 18.9655 IFI35 0 genome.wustl.edu 37 17 41165127 41165127 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 41165127 41165127 G A SNP IFI35 ENST00000438323 human ensembl 74_37 +1 known missense c.184 p.V62M 0.000 pfam_Nmi/IFP35_N pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors IFI35 HGNC ENSG00000068079 288 0 0 217 70 24.3902 DHX8 0 genome.wustl.edu 37 17 41598812 41598812 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 41598812 41598812 G A SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.3142 p.V1048M 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 60 0 0 38 13 25.4902 ARHGAP27 0 genome.wustl.edu 37 17 43475404 43475404 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 43475404 43475404 G A SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known nonsense c.1753 p.R585* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 89 0 0 64 10 13.5135 SMTNL2 0 genome.wustl.edu 37 17 4497136 4497136 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 4497136 4497136 G A SNP SMTNL2 ENST00000389313 human ensembl 74_37 +1 known silent c.750 p.T250 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL2 HGNC ENSG00000188176 90 0 0 71 14 16.4706 LRRC46 0 genome.wustl.edu 37 17 45914298 45914298 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 45914298 45914298 A G SNP LRRC46 ENST00000269025 human ensembl 74_37 +1 known missense c.778 p.T260A 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC46 HGNC ENSG00000141294 199 0 0 111 31 21.831 HOXB1 0 genome.wustl.edu 37 17 46606967 46606967 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 46606967 46606967 G A SNP HOXB1 ENST00000239174 human ensembl 74_37 -1 known missense c.848 p.A283V 0.923 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 113 0 0 71 23 24.4681 HOXB3 0 genome.wustl.edu 37 17 46628527 46628527 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 46628527 46628527 G A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.465 p.G155 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 12 0 0 8 9 52.9412 ATP5G1 0 genome.wustl.edu 37 17 46973023 46973023 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 46973023 46973023 G A SNP ATP5G1 ENST00000355938 human ensembl 74_37 +1 known silent c.303 p.P101 0.993 pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu - no_errors ATP5G1 HGNC ENSG00000159199 350 0 0 240 81 25.2336 GNGT2 0 genome.wustl.edu 37 17 47284234 47284234 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 47284234 47284234 G A SNP GNGT2 ENST00000300406 human ensembl 74_37 -1 known missense c.95 p.A32V 0.979 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT2 HGNC ENSG00000167083 190 0 0 111 36 24.4898 ZNF652 0 genome.wustl.edu 37 17 47394604 47394604 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 47394604 47394604 C T SNP ZNF652 ENST00000362063 human ensembl 74_37 -1 known missense c.484 p.A162T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 377 0 0 278 66 19.186 ANKRD40 0 genome.wustl.edu 37 17 48777178 48777178 + Silent SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 48777178 48777178 A T SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known silent c.360 p.V120 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 70 0 0 47 17 26.5625 BZRAP1 0 genome.wustl.edu 37 17 56389568 56389568 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 56389568 56389568 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.2614 p.R872C 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 35 0 0 14 6 30 TRIM37 0 genome.wustl.edu 37 17 57157177 57157177 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 57157177 57157177 G A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known missense c.554 p.A185V 1.000 smart_Bbox_C pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 235 0 0 156 49 23.9024 DHX40 0 genome.wustl.edu 37 17 57679949 57679949 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 57679949 57679949 G A SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.1873 p.A625T 1.000 pfam_DUF1605 pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 124 0 0 92 30 24.5902 CLTC 0 genome.wustl.edu 37 17 57759076 57759076 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 57759076 57759076 G A SNP CLTC ENST00000269122 human ensembl 74_37 +1 known silent c.3318 p.A1106 0.035 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 169 0 0 131 40 23.3918 MED13 0 genome.wustl.edu 37 17 60059997 60059997 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 60059997 60059997 T C SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.3367 p.T1123A 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 308 1 0.323625 221 59 21.0714 CEP95 0 genome.wustl.edu 37 17 62518978 62518978 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 62518978 62518978 G A SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known missense c.874 p.V292I 0.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 38 0 0 28 10 26.3158 RGS9 0 genome.wustl.edu 37 17 63189717 63189717 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 63189717 63189717 T G SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.803 p.L268R 0.999 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 88 0 0 74 14 15.9091 AIPL1 0 genome.wustl.edu 37 17 6328845 6328845 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 6328845 6328845 C T SNP AIPL1 ENST00000381129 human ensembl 74_37 -1 known missense c.1090 p.A364T 0.000 NULL pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors AIPL1 HGNC ENSG00000129221 76 0 0 48 17 26.1538 KPNA2 0 genome.wustl.edu 37 17 66036862 66036862 + Silent SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 66036862 66036862 C G SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known silent c.282 p.L94 0.967 pfam_Importin-a_IBB,superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 250 0 0 177 44 19.9095 FAM20A 0 genome.wustl.edu 37 17 66538187 66538187 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 66538187 66538187 C T SNP FAM20A ENST00000592554 human ensembl 74_37 -1 known missense c.1048 p.A350T 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 135 0 0 93 36 27.907 ABCA9 0 genome.wustl.edu 37 17 67031809 67031809 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 67031809 67031809 G T SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.934 p.L312M 0.980 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 84 0 0 39 16 29.0909 NXN 0 genome.wustl.edu 37 17 708453 708453 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 708453 708453 G A SNP NXN ENST00000336868 human ensembl 74_37 -1 known silent c.855 p.G285 0.905 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 32 0 0 18 5 21.7391 TTYH2 0 genome.wustl.edu 37 17 72218769 72218769 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 72218769 72218769 C T SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.275 p.T92M 0.943 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 94 0 0 31 26 45.614 KIF19 0 genome.wustl.edu 37 17 72342526 72342526 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 72342526 72342526 C T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.787 p.R263C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 10 0 0 0 2 100 KCTD2 0 genome.wustl.edu 37 17 73059172 73059172 + RNA SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 73059172 73059172 G T SNP KCTD2 ENST00000577516 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors KCTD2 HGNC ENSG00000180901 44 0 0 34 2 5.55556 SLC16A5 0 genome.wustl.edu 37 17 73096181 73096181 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 73096181 73096181 C T SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known silent c.423 p.N141 0.979 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 33 0 0 22 5 18.5185 NLGN2 0 genome.wustl.edu 37 17 7320376 7320376 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7320376 7320376 T C SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.1766 p.V589A 1.000 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 51 0 0 23 8 25.8065 LLGL2 0 genome.wustl.edu 37 17 73555400 73555400 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 73555400 73555400 G A SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.439 p.G147S 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 76 0 0 36 15 29.4118 GALK1 0 genome.wustl.edu 37 17 73754610 73754610 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 73754610 73754610 C T SNP GALK1 ENST00000437911 human ensembl 74_37 -1 known silent c.954 p.T318 0.000 pirsf_Galactokinase,prints_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 12 0 0 5 3 37.5 EVPL 0 genome.wustl.edu 37 17 74004930 74004930 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 74004930 74004930 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.4356 p.R1452 0.997 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 171 0 0 109 37 25.3425 EXOC7 0 genome.wustl.edu 37 17 74080177 74080177 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 74080177 74080177 G A SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.2015 p.A672V 1.000 pfam_Exo70,superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 58 0 0 36 15 29.4118 POLR2A 0 genome.wustl.edu 37 17 7415852 7415852 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7415852 7415852 A G SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.4549 p.M1517V 1.000 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 86 0 0 63 5 7.35294 POLR2A 0 genome.wustl.edu 37 17 7417070 7417070 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7417070 7417070 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known silent c.5487 p.S1829 0.293 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 266 0 0 225 58 20.4947 SPHK1 0 genome.wustl.edu 37 17 74382511 74382511 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 74382511 74382511 C T SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known missense c.554 p.T185I 0.006 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 65 0 0 38 13 25.4902 SEPT9 0 genome.wustl.edu 37 17 75478334 75478334 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 75478334 75478334 G A SNP SEPT9 ENST00000427177 human ensembl 74_37 +1 known missense c.830 p.G277D 1.000 superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase - no_errors SEPT9 HGNC ENSG00000184640 50 0 0 36 9 20 TP53 0 genome.wustl.edu 37 17 7578424 7578424 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7578424 7578424 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.506 p.M169T 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 85 0 0 40 5 11.1111 DNAH17 0 genome.wustl.edu 37 17 76430202 76430202 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 76430202 76430202 C A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.12115 p.A4039S 0.955 pfam_Dynein_heavy_dom 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 167 0 0 118 33 21.8543 TIMP2 0 genome.wustl.edu 37 17 76869992 76869992 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 76869992 76869992 G A SNP TIMP2 ENST00000262768 human ensembl 74_37 -1 known missense c.140 p.A47V 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP2 HGNC ENSG00000035862 113 0 0 92 35 27.5591 DNAH2 0 genome.wustl.edu 37 17 7691222 7691222 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7691222 7691222 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.6648 p.P2216 0.382 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase 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 116 1 0.854701 92 18 16.3636 C1QTNF1 0 genome.wustl.edu 37 17 77043914 77043914 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 77043914 77043914 T C SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.620 p.L207P 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 136 1 0.729927 97 17 14.9123 DNAH2 0 genome.wustl.edu 37 17 7710586 7710586 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7710586 7710586 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.9561 p.G3187 0.981 NULL 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 139 0 0 96 32 25 CYB5D1 0 genome.wustl.edu 37 17 7761538 7761538 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7761538 7761538 A T SNP CYB5D1 ENST00000332439 human ensembl 74_37 +1 known missense c.86 p.N29I 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors CYB5D1 HGNC ENSG00000182224 107 0 0 86 36 29.5082 CBX8 0 genome.wustl.edu 37 17 77769888 77769888 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 77769888 77769888 G A SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.214 p.R72C 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 375 0 0 313 81 20.5584 CHD3 0 genome.wustl.edu 37 17 7803346 7803346 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7803346 7803346 T C SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.2677 p.S893P 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 50 0 0 36 15 29.4118 RNF213 0 genome.wustl.edu 37 17 78317076 78317076 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 78317076 78317076 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.6134 p.A2045V 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 50 0 0 37 5 11.9048 GUCY2D 0 genome.wustl.edu 37 17 7917326 7917326 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7917326 7917326 A G SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.2392 p.M798V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 146 0 0 86 26 23.2143 C17orf70 0 genome.wustl.edu 37 17 79514156 79514156 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 79514156 79514156 T C SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known missense c.1952 p.Q651R 1.000 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 59 0 0 44 10 18.5185 SLC16A3 0 genome.wustl.edu 37 17 80195343 80195343 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 80195343 80195343 G A SNP SLC16A3 ENST00000392339 human ensembl 74_37 +1 known missense c.697 p.V233M 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 24 0 0 20 5 20 TBCD 0 genome.wustl.edu 37 17 80884364 80884364 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 80884364 80884364 C T SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.2468 p.A823V 0.101 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 41 0 0 40 10 20 SLC25A35 0 genome.wustl.edu 37 17 8197809 8197809 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 8197809 8197809 G A SNP SLC25A35 ENST00000577745 human ensembl 74_37 -1 known missense c.317 p.A106V 1.000 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 SLC25A35 HGNC ENSG00000125434 51 0 0 37 7 15.9091 MYH10 0 genome.wustl.edu 37 17 8381732 8381732 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 8381732 8381732 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5600 p.R1867H 0.994 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 197 0 0 143 43 23.1183 CCDC42 0 genome.wustl.edu 37 17 8638419 8638419 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 8638419 8638419 C T SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.868 p.D290N 1.000 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 80 0 0 47 11 18.9655 USP43 0 genome.wustl.edu 37 17 9570015 9570015 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 9570015 9570015 T C SNP USP43 ENST00000285199 human ensembl 74_37 +1 known silent c.687 p.A229 0.196 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 47 0 0 25 7 21.875 GAS7 0 genome.wustl.edu 37 17 9828912 9828912 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 9828912 9828912 C T SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.1019 p.R340Q 1.000 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 129 0 0 83 22 20.9524 GAS7 0 genome.wustl.edu 37 17 9923135 9923135 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 9923135 9923135 G A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.263 p.S88L 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 98 0 0 67 16 19.2771 CTAGE1 0 genome.wustl.edu 37 18 19996086 19996086 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 19996086 19996086 G T SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known silent c.1689 p.P563 0.002 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 125 0 0 82 33 28.6957 OSBPL1A 0 genome.wustl.edu 37 18 21891961 21891961 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 21891961 21891961 T C SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.1079 p.K360R 0.993 NULL pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 391 0 0 279 95 25.4011 DSG4 0 genome.wustl.edu 37 18 28991227 28991227 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 28991227 28991227 C T SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.2228 p.T743M 0.827 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 125 0 0 90 16 15.0943 KIAA1328 0 genome.wustl.edu 37 18 34465570 34465570 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 34465570 34465570 A G SNP KIAA1328 ENST00000280020 human ensembl 74_37 +1 known missense c.383 p.E128G 1.000 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 18 0 0 14 3 17.6471 COLEC12 0 genome.wustl.edu 37 18 347267 347267 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 347267 347267 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.355 p.R119C 0.989 NULL 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 227 0 0 148 58 28.1553 DLGAP1 0 genome.wustl.edu 37 18 3879906 3879906 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 3879906 3879906 C A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.163 p.A55S 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 79 0 0 71 22 23.6559 ST8SIA5 0 genome.wustl.edu 37 18 44260327 44260327 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 44260327 44260327 G A SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known missense c.809 p.S270L 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 58 0 0 35 8 18.6047 ZBTB7C 0 genome.wustl.edu 37 18 45566726 45566726 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 45566726 45566726 G A SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known silent c.753 p.F251 0.009 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 88 0 0 51 13 20.3125 ME2 0 genome.wustl.edu 37 18 48473730 48473730 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 48473730 48473730 G A SNP ME2 ENST00000585680 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors ME2 HGNC ENSG00000082212 10 0 0 6 2 25 WDR7 0 genome.wustl.edu 37 18 54603098 54603098 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 54603098 54603098 G A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.3793 p.A1265T 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 153 0 0 79 35 30.7018 ZNF532 0 genome.wustl.edu 37 18 56586342 56586342 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 56586342 56586342 G A SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.823 p.A275T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 134 0 0 93 35 27.3438 ZNF532 0 genome.wustl.edu 37 18 56646392 56646392 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 56646392 56646392 G A SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.3256 p.A1086T 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 163 0 0 98 23 19.0083 CPLX4 0 genome.wustl.edu 37 18 56979989 56979989 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 56979989 56979989 A G SNP CPLX4 ENST00000299721 human ensembl 74_37 -1 known silent c.183 p.A61 0.753 pfam_Synaphin pfam_Synaphin - no_errors CPLX4 HGNC ENSG00000166569 103 0 0 79 18 18.5567 LMAN1 0 genome.wustl.edu 37 18 57020530 57020530 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 57020530 57020530 G A SNP LMAN1 ENST00000251047 human ensembl 74_37 -1 known silent c.543 p.D181 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 213 0 0 179 17 8.67347 KIAA1468 0 genome.wustl.edu 37 18 59895676 59895676 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 59895676 59895676 A G SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known silent c.1293 p.G431 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 154 1 0.645161 144 31 17.7143 SERPINB3 0 genome.wustl.edu 37 18 61326636 61326636 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 61326636 61326636 T C SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known silent c.348 p.L116 0.585 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 220 0 0 131 43 24.7126 RTTN 0 genome.wustl.edu 37 18 67836303 67836303 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 67836303 67836303 C A SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.1477 p.A493S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 83 0 0 69 22 24.1758 LAMA1 0 genome.wustl.edu 37 18 7044752 7044752 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 7044752 7044752 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.945 p.P315 0.021 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 269 0 0 199 40 16.7364 TIMM21 0 genome.wustl.edu 37 18 71822600 71822600 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 71822600 71822600 T C SNP TIMM21 ENST00000169551 human ensembl 74_37 +1 known missense c.424 p.Y142H 1.000 pfam_Tim21 pfam_Tim21 - no_errors TIMM21 HGNC ENSG00000075336 149 0 0 110 27 19.708 TSHZ1 0 genome.wustl.edu 37 18 72999246 72999246 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 72999246 72999246 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.1884 p.T628 0.993 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 55 0 0 39 10 20.4082 NFATC1 0 genome.wustl.edu 37 18 77211059 77211059 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 77211059 77211059 C T SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known silent c.1695 p.R565 0.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 117 0 0 91 37 28.9062 RAB12 0 genome.wustl.edu 37 18 8636338 8636338 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 8636338 8636338 G A SNP RAB12 ENST00000329286 human ensembl 74_37 +1 known missense c.604 p.D202N 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB12 HGNC ENSG00000206418 63 0 0 40 9 18.3673 ICAM5 0 genome.wustl.edu 37 19 10404792 10404792 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 10404792 10404792 T C SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known silent c.1788 p.C596 0.990 smart_Ig_sub pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 130 0 0 82 36 30.5085 PDE4A 0 genome.wustl.edu 37 19 10570296 10570296 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 10570296 10570296 G A SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.1226 p.R409H 0.957 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 55 0 0 39 7 15.2174 HMHA1 0 genome.wustl.edu 37 19 1085856 1085856 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 1085856 1085856 G A SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.3262 p.G1088R 0.002 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 60 0 0 48 19 28.3582 DNM2 0 genome.wustl.edu 37 19 10908090 10908090 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 10908090 10908090 G T SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known missense c.1231 p.A411S 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 79 0 0 81 28 25.6881 RAB3D 0 genome.wustl.edu 37 19 11446182 11446182 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 11446182 11446182 T G SNP RAB3D ENST00000222120 human ensembl 74_37 -1 known missense c.413 p.D138A 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3D HGNC ENSG00000105514 66 0 0 70 22 23.913 PRKCSH 0 genome.wustl.edu 37 19 11559934 11559934 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 11559934 11559934 G A SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known missense c.1384 p.A462T 0.682 pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 77 0 0 57 18 24 ENSG00000188474 0 genome.wustl.edu 37 19 12223806 12223806 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 12223806 12223806 G A SNP ENSG00000188474 ENST00000339302 human ensembl 74_37 +1 known missense c.1444 p.A482T 0.863 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_gn ENSG00000188474 45 0 0 39 10 20.4082 ZNF625 0 genome.wustl.edu 37 19 12256589 12256589 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 12256589 12256589 A G SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known silent c.642 p.T214 0.999 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 ZNF625 HGNC ENSG00000257591 245 0 0 182 42 18.75 ZNF799 0 genome.wustl.edu 37 19 12501871 12501871 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 12501871 12501871 T G SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.1341 p.K447N 1.000 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 ZNF799 HGNC ENSG00000196466 190 0 0 151 52 25.6158 ZNF791 0 genome.wustl.edu 37 19 12739381 12739381 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 12739381 12739381 C T SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known silent c.1038 p.H346 0.164 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 ZNF791 HGNC ENSG00000173875 131 0 0 118 35 22.8758 DHPS 0 genome.wustl.edu 37 19 12791075 12791075 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 12791075 12791075 C T SNP DHPS ENST00000210060 human ensembl 74_37 -1 known missense c.272 p.R91H 1.000 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 279 1 0.357143 186 73 28.1853 FBXW9 0 genome.wustl.edu 37 19 12800036 12800036 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 12800036 12800036 C T SNP FBXW9 ENST00000380339 human ensembl 74_37 -1 known silent c.1461 p.Q487 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,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 FBXW9 HGNC ENSG00000132004 66 0 0 40 14 25.9259 NFIX 0 genome.wustl.edu 37 19 13184812 13184812 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 13184812 13184812 C T SNP NFIX ENST00000585575 human ensembl 74_37 +1 known missense c.766 p.R256W 0.999 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 80 0 0 63 7 10 CACNA1A 0 genome.wustl.edu 37 19 13323306 13323306 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 13323306 13323306 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.6081 p.S2027 1.000 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 15 0 0 4 4 50 CACNA1A 0 genome.wustl.edu 37 19 13414687 13414687 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 13414687 13414687 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.1998 p.G666 0.599 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 165 0 0 111 36 24.4898 CACNA1A 0 genome.wustl.edu 37 19 13470495 13470495 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 13470495 13470495 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.903 p.F301 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 23 0 0 18 4 18.1818 LPHN1 0 genome.wustl.edu 37 19 14288438 14288438 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 14288438 14288438 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.189 p.Y63 0.992 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom 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 184 0 0 124 33 21.0191 DAZAP1 0 genome.wustl.edu 37 19 1428934 1428934 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 1428934 1428934 G A SNP DAZAP1 ENST00000233078 human ensembl 74_37 +1 known missense c.640 p.A214T 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 31 0 0 25 7 21.875 APC2 0 genome.wustl.edu 37 19 1466376 1466376 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 1466376 1466376 C T SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.3076 p.R1026W 0.409 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 12 0 0 7 6 46.1538 OR7A17 0 genome.wustl.edu 37 19 14991937 14991937 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 14991937 14991937 T C SNP OR7A17 ENST00000327462 human ensembl 74_37 -1 known silent c.231 p.T77 0.000 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 OR7A17 HGNC ENSG00000185385 104 0 0 88 28 24.1379 AKAP8 0 genome.wustl.edu 37 19 15483787 15483787 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 15483787 15483787 A G SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.736 p.S246P 0.043 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 19 0 0 18 4 18.1818 OR10H5 0 genome.wustl.edu 37 19 15905420 15905420 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 15905420 15905420 G T SNP OR10H5 ENST00000308940 human ensembl 74_37 +1 known missense c.562 p.A188S 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC ENSG00000172519 119 0 0 79 36 31.3043 CYP4F11 0 genome.wustl.edu 37 19 16034738 16034738 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 16034738 16034738 C T SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.802 p.D268N 0.646 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 CYP4F11 HGNC ENSG00000171903 164 0 0 136 39 22.2857 CPAMD8 0 genome.wustl.edu 37 19 17014586 17014586 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 17014586 17014586 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.4474 p.A1492T 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 174 0 0 110 29 20.8633 CPAMD8 0 genome.wustl.edu 37 19 17108023 17108023 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 17108023 17108023 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.1134 p.V378 0.999 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 42 0 0 39 7 15.2174 USE1 0 genome.wustl.edu 37 19 17327091 17327091 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 17327091 17327091 G A SNP USE1 ENST00000263897 human ensembl 74_37 +1 known silent c.345 p.A115 0.560 pfam_Vesicle_transport_protein_Use1 pfam_Vesicle_transport_protein_Use1 - no_errors USE1 HGNC ENSG00000053501 94 0 0 60 10 14.2857 PLVAP 0 genome.wustl.edu 37 19 17476377 17476377 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 17476377 17476377 G A SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known silent c.897 p.R299 0.121 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 59 0 0 40 19 32.2034 MAP1S 0 genome.wustl.edu 37 19 17838387 17838387 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 17838387 17838387 C T SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.2194 p.P732S 0.871 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 21 0 0 22 7 24.1379 IL12RB1 0 genome.wustl.edu 37 19 18177481 18177481 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 18177481 18177481 C T SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known missense c.1354 p.V452I 0.005 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 176 0 0 134 36 21.1765 IL12RB1 0 genome.wustl.edu 37 19 18183096 18183096 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 18183096 18183096 G A SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known nonsense c.847 p.R283* 0.001 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 58 0 0 36 9 20 REXO1 0 genome.wustl.edu 37 19 1825905 1825905 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 1825905 1825905 G A SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known missense c.1949 p.S650L 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 115 0 0 82 26 24.0741 RAB3A 0 genome.wustl.edu 37 19 18313398 18313398 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 18313398 18313398 G A SNP RAB3A ENST00000222256 human ensembl 74_37 -1 known silent c.153 p.F51 0.939 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3A HGNC ENSG00000105649 247 0 0 196 61 23.7354 UPF1 0 genome.wustl.edu 37 19 18966799 18966799 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 18966799 18966799 C T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.1643 p.T548M 1.000 pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 33 0 0 31 8 20.5128 SUGP2 0 genome.wustl.edu 37 19 19136833 19136833 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 19136833 19136833 G A SNP SUGP2 ENST00000456085 human ensembl 74_37 -1 known missense c.29 p.A10V 0.987 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 179 0 0 141 45 24.1935 NCAN 0 genome.wustl.edu 37 19 19329854 19329854 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 19329854 19329854 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known silent c.204 p.S68 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_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,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 57 0 0 42 9 17.6471 NCAN 0 genome.wustl.edu 37 19 19351447 19351447 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 19351447 19351447 G A SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.3445 p.D1149N 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_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,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 87 0 0 69 23 25 GATAD2A 0 genome.wustl.edu 37 19 19576260 19576260 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 19576260 19576260 T C SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known silent c.106 p.L36 0.257 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 104 0 0 74 16 17.7778 GATAD2A 0 genome.wustl.edu 37 19 19613299 19613299 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 19613299 19613299 G A SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known missense c.1735 p.A579T 0.001 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 142 0 0 70 26 27.0833 ZNF714 0 genome.wustl.edu 37 19 21300337 21300337 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 21300337 21300337 T C SNP ZNF714 ENST00000596143 human ensembl 74_37 +1 known silent c.867 p.C289 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 26 0 0 20 7 25.9259 ZNF57 0 genome.wustl.edu 37 19 2917163 2917163 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 2917163 2917163 C T SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.544 p.H182Y 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 ZNF57 HGNC ENSG00000171970 109 0 0 77 19 19.7917 TLE6 0 genome.wustl.edu 37 19 2987969 2987969 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 2987969 2987969 C T SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known silent c.699 p.V233 0.877 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 34 0 0 17 8 32 ZNF536 0 genome.wustl.edu 37 19 31040042 31040042 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 31040042 31040042 C A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.3516 p.S1172 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 108 0 0 73 26 26.2626 GNA11 0 genome.wustl.edu 37 19 3119270 3119270 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 3119270 3119270 T G SNP GNA11 ENST00000078429 human ensembl 74_37 +1 known missense c.802 p.S268A 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q 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_Q,prints_Fungi_Gprotein_alpha - no_errors GNA11 HGNC ENSG00000088256 144 0 0 92 27 22.6891 TSHZ3 0 genome.wustl.edu 37 19 31768425 31768425 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 31768425 31768425 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.2274 p.A758 0.905 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 101 0 0 69 22 24.1758 KIAA0355 0 genome.wustl.edu 37 19 34838949 34838949 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 34838949 34838949 T C SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known splice_site c.2687+2 e10+2 1.000 - - - no_errors KIAA0355 HGNC ENSG00000166398 50 0 0 30 7 18.9189 ZNF599 0 genome.wustl.edu 37 19 35250008 35250008 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 35250008 35250008 A G SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known silent c.1698 p.N566 0.024 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 ZNF599 HGNC ENSG00000153896 292 0 0 200 77 27.7978 LSR 0 genome.wustl.edu 37 19 35753459 35753459 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 35753459 35753459 C T SNP LSR ENST00000361790 human ensembl 74_37 +1 known silent c.786 p.F262 0.673 pfam_LISCH7 pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 199 0 0 144 38 20.8791 MAG 0 genome.wustl.edu 37 19 35800979 35800979 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 35800979 35800979 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known silent c.1434 p.G478 0.014 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 54 0 0 30 13 30.2326 TBXA2R 0 genome.wustl.edu 37 19 3600476 3600476 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 3600476 3600476 G A SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.157 p.R53W 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 21 0 0 11 8 42.1053 ATP4A 0 genome.wustl.edu 37 19 36043937 36043937 + Splice_Site SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 36043937 36043937 A G SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known splice_site c.2751+2 e18+2 1.000 - - - no_errors ATP4A HGNC ENSG00000105675 72 0 0 69 15 17.8571 ATP4A 0 genome.wustl.edu 37 19 36046581 36046581 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 36046581 36046581 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.2003 p.R668H 0.978 pfam_HAD-like_dom,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 214 0 0 135 40 22.8571 ARHGAP33 0 genome.wustl.edu 37 19 36269464 36269464 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 36269464 36269464 G A SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known silent c.369 p.P123 0.989 superfamily_Phox pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 90 0 0 89 19 17.5926 WDR62 0 genome.wustl.edu 37 19 36557260 36557260 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 36557260 36557260 A G SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known silent c.492 p.S164 0.996 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 WDR62 HGNC ENSG00000075702 31 0 0 28 6 17.6471 APBA3 0 genome.wustl.edu 37 19 3760158 3760158 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 3760158 3760158 G A SNP APBA3 ENST00000316757 human ensembl 74_37 -1 known silent c.105 p.S35 0.001 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 80 0 0 50 13 20.6349 DPF1 0 genome.wustl.edu 37 19 38706786 38706786 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 38706786 38706786 G A SNP DPF1 ENST00000355526 human ensembl 74_37 -1 known nonsense c.973 p.R325* 1.000 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_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 106 0 0 75 30 28.5714 RYR1 0 genome.wustl.edu 37 19 38949797 38949797 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 38949797 38949797 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.2179 p.R727C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 74 0 0 57 12 17.3913 RYR1 0 genome.wustl.edu 37 19 39003103 39003103 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 39003103 39003103 A G SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.9452 p.Q3151R 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 92 0 0 68 32 32 EEF2 0 genome.wustl.edu 37 19 3976737 3976737 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 3976737 3976737 C T SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.2392 p.A798T 1.000 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 14 0 0 14 2 12.5 LGALS16 0 genome.wustl.edu 37 19 40149264 40149264 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 40149264 40149264 G A SNP LGALS16 ENST00000392051 human ensembl 74_37 +1 known missense c.257 p.G86D 0.145 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 LGALS16 HGNC ENSG00000249861 22 0 0 19 6 24 DYRK1B 0 genome.wustl.edu 37 19 40316485 40316485 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 40316485 40316485 G A SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.1760 p.P587L 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 23 0 0 9 7 43.75 CNTD2 0 genome.wustl.edu 37 19 40730477 40730477 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 40730477 40730477 C T SNP CNTD2 ENST00000430325 human ensembl 74_37 -1 known missense c.431 p.R144H 0.015 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CNTD2 HGNC ENSG00000105219 221 0 0 128 45 26.0116 LTBP4 0 genome.wustl.edu 37 19 41132925 41132925 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 41132925 41132925 G T SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.4229 p.S1410I 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 24 0 0 16 3 15.7895 AXL 0 genome.wustl.edu 37 19 41745098 41745098 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 41745098 41745098 G T SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.1164 p.E388D 0.988 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 105 0 0 69 16 18.8235 HNRNPUL1 0 genome.wustl.edu 37 19 41798252 41798252 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 41798252 41798252 C A SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.1102 p.L368I 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,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 HNRNPUL1 HGNC ENSG00000105323 265 1 0.37594 197 55 21.8254 B3GNT8 0 genome.wustl.edu 37 19 41932375 41932375 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 41932375 41932375 G A SNP B3GNT8 ENST00000321702 human ensembl 74_37 -1 known silent c.309 p.T103 0.003 NULL pfam_Glyco_trans_31 - no_errors B3GNT8 HGNC ENSG00000177191 33 0 0 23 7 23.3333 GRIK5 0 genome.wustl.edu 37 19 42563569 42563569 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 42563569 42563569 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.619 p.R207C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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 GRIK5 HGNC ENSG00000105737 145 0 0 103 18 14.876 POU2F2 0 genome.wustl.edu 37 19 42621421 42621421 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 42621421 42621421 G A SNP POU2F2 ENST00000342301 human ensembl 74_37 -1 known missense c.284 p.T95M 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 172 0 0 111 35 23.9726 DEDD2 0 genome.wustl.edu 37 19 42713974 42713974 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 42713974 42713974 C T SNP DEDD2 ENST00000595337 human ensembl 74_37 -1 known missense c.467 p.R156Q 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 51 0 0 32 11 25.5814 MEGF8 0 genome.wustl.edu 37 19 42861648 42861648 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 42861648 42861648 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.4923 p.P1641 0.002 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 56 0 0 65 14 17.7215 LYPD3 0 genome.wustl.edu 37 19 43967403 43967403 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 43967403 43967403 C T SNP LYPD3 ENST00000244333 human ensembl 74_37 -1 known missense c.419 p.C140Y 1.000 pfam_LY6_UPAR pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 83 0 0 60 18 23.0769 KCNN4 0 genome.wustl.edu 37 19 44280754 44280754 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 44280754 44280754 A C SNP KCNN4 ENST00000262888 human ensembl 74_37 -1 known missense c.194 p.I65S 1.000 pfam_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 43 0 0 27 15 35.7143 ZNF225 0 genome.wustl.edu 37 19 44635779 44635779 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 44635779 44635779 C A SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.1012 p.H338N 0.865 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 ZNF225 HGNC ENSG00000256294 280 0 0 188 62 24.8 ZNF112 0 genome.wustl.edu 37 19 44832877 44832877 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 44832877 44832877 A G SNP ZNF112 ENST00000536500 human ensembl 74_37 -1 known missense c.1502 p.L501S 0.000 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 ZNF112 HGNC ENSG00000062370 360 0 0 221 89 28.7097 PLIN4 0 genome.wustl.edu 37 19 4512549 4512549 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 4512549 4512549 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.1381 p.G461S 0.005 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 253 0 0 157 53 25.2381 PLIN5 0 genome.wustl.edu 37 19 4523795 4523795 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 4523795 4523795 C T SNP PLIN5 ENST00000381848 human ensembl 74_37 -1 known silent c.1137 p.A379 0.218 pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC ENSG00000214456 26 0 0 21 5 19.2308 ZNF296 0 genome.wustl.edu 37 19 45574970 45574970 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 45574970 45574970 C T SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known silent c.1317 p.T439 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 118 0 0 97 27 21.7742 DMWD 0 genome.wustl.edu 37 19 46288989 46288989 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 46288989 46288989 C T SNP DMWD ENST00000270223 human ensembl 74_37 -1 known missense c.1765 p.E589K 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 67 0 0 41 6 12.766 PPP5C 0 genome.wustl.edu 37 19 46890636 46890636 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 46890636 46890636 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.1061 p.G354D 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 46 0 0 31 12 27.907 CCDC8 0 genome.wustl.edu 37 19 46914767 46914767 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 46914767 46914767 G A SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.1301 p.A434V 0.000 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 79 0 0 68 23 25.2747 NPAS1 0 genome.wustl.edu 37 19 47548656 47548656 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 47548656 47548656 C T SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known missense c.1520 p.P507L 0.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 19 0 0 28 7 20 NAPA 0 genome.wustl.edu 37 19 47991636 47991636 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 47991636 47991636 T C SNP NAPA ENST00000263354 human ensembl 74_37 -1 known missense c.797 p.Y266C 0.959 prints_NSF_attach prints_NSF_attach - no_errors NAPA HGNC ENSG00000105402 76 0 0 50 12 19.3548 TPRX1 0 genome.wustl.edu 37 19 48306062 48306062 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 48306062 48306062 G A SNP TPRX1 ENST00000535759 human ensembl 74_37 -1 known missense c.497 p.T166M 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX1 HGNC ENSG00000178928 13 0 0 6 3 33.3333 PLA2G4C 0 genome.wustl.edu 37 19 48565257 48565257 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 48565257 48565257 C T SNP PLA2G4C ENST00000599111 human ensembl 74_37 -1 known missense c.1285 p.E429K 0.962 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 201 0 0 129 50 27.933 DHDH 0 genome.wustl.edu 37 19 49448111 49448111 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 49448111 49448111 C T SNP DHDH ENST00000221403 human ensembl 74_37 +1 known missense c.926 p.S309L 0.137 NULL pfam_Oxidoreductase_N - no_errors DHDH HGNC ENSG00000104808 168 0 0 121 23 15.9722 PIH1D1 0 genome.wustl.edu 37 19 49949668 49949668 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 49949668 49949668 C T SNP PIH1D1 ENST00000262265 human ensembl 74_37 -1 known missense c.844 p.A282T 0.994 pfam_PIH pfam_PIH - no_errors PIH1D1 HGNC ENSG00000104872 65 0 0 33 12 26.6667 ZNF473 0 genome.wustl.edu 37 19 50548543 50548543 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 50548543 50548543 G A SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known nonsense c.843 p.W281* 0.851 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 ZNF473 HGNC ENSG00000142528 255 0 0 196 56 22.2222 MYH14 0 genome.wustl.edu 37 19 50747580 50747580 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 50747580 50747580 T C SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.1196 p.M399T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 44 0 0 29 10 25.641 LRRC4B 0 genome.wustl.edu 37 19 51021091 51021091 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 51021091 51021091 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1879 p.A627T 1.000 NULL 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 20 0 0 14 4 22.2222 KLK12 0 genome.wustl.edu 37 19 51535273 51535273 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 51535273 51535273 C T SNP KLK12 ENST00000250351 human ensembl 74_37 -1 known missense c.316 p.E106K 0.835 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK12 HGNC ENSG00000186474 35 0 0 13 12 48 SIGLEC8 0 genome.wustl.edu 37 19 51961233 51961233 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 51961233 51961233 A G SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known missense c.409 p.S137P 0.000 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 251 0 0 205 58 22.0532 PTPRS 0 genome.wustl.edu 37 19 5212474 5212474 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 5212474 5212474 C A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4646 p.R1549L 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 19 0 0 6 2 25 PTPRS 0 genome.wustl.edu 37 19 5244133 5244133 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 5244133 5244133 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.1352 p.P451L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 125 0 0 92 6 6.12245 ZNF836 0 genome.wustl.edu 37 19 52659509 52659509 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 52659509 52659509 C T SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known missense c.1427 p.G476D 0.976 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 ZNF836 HGNC ENSG00000196267 306 0 0 188 57 23.2653 PPP2R1A 0 genome.wustl.edu 37 19 52715983 52715983 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 52715983 52715983 G A SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.548 p.R183Q 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 95 0 0 69 18 20.6897 PPP2R1A 0 genome.wustl.edu 37 19 52724264 52724264 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 52724264 52724264 C A SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.1396 p.L466M 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 141 0 0 140 8 5.40541 ZNF83 0 genome.wustl.edu 37 19 53158850 53158850 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 53158850 53158850 C T SNP ZNF83 ENST00000595171 human ensembl 74_37 -1 known rna NULL NULL 0.455 - - - no_errors ZNF83 HGNC ENSG00000167766 226 0 0 146 52 26.2626 ZNF813 0 genome.wustl.edu 37 19 53994075 53994075 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 53994075 53994075 C T SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.589 p.R197W 0.026 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 ZNF813 HGNC ENSG00000198346 254 0 0 195 64 24.7104 NLRP12 0 genome.wustl.edu 37 19 54314260 54314260 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 54314260 54314260 G A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.653 p.A218V 0.844 superfamily_P-loop_NTPase,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 NLRP12 HGNC ENSG00000142405 139 0 0 105 28 21.0526 TMC4 0 genome.wustl.edu 37 19 54669187 54669187 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 54669187 54669187 C T SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.911 p.R304Q 0.496 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 22 0 0 18 4 18.1818 LILRB3 0 genome.wustl.edu 37 19 54721312 54721312 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 54721312 54721312 G A SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.1676 p.T559M 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 75 0 0 63 15 19.2308 LAIR1 0 genome.wustl.edu 37 19 54872811 54872811 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 54872811 54872811 G T SNP LAIR1 ENST00000391742 human ensembl 74_37 -1 known missense c.76 p.L26M 0.001 NULL smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 197 0 0 147 36 19.6721 LILRA2 0 genome.wustl.edu 37 19 55086397 55086397 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 55086397 55086397 C T SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known silent c.552 p.P184 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 178 0 0 142 39 21.547 KIR2DL3 0 genome.wustl.edu 37 19 55250015 55250015 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 55250015 55250015 C T SNP KIR2DL3 ENST00000434419 human ensembl 74_37 +1 known missense c.5 p.S2L 0.978 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 42 0 0 24 11 31.4286 NLRP7 0 genome.wustl.edu 37 19 55451377 55451377 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 55451377 55451377 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.894 p.C298 0.000 superfamily_P-loop_NTPase,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 NLRP7 HGNC ENSG00000167634 95 0 0 70 23 24.7312 NLRP2 0 genome.wustl.edu 37 19 55481476 55481476 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 55481476 55481476 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.93 p.T31 0.004 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 NLRP2 HGNC ENSG00000022556 110 0 0 86 17 16.5049 BRSK1 0 genome.wustl.edu 37 19 55816195 55816195 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 55816195 55816195 G A SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.1672 p.G558S 0.998 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 12 0 0 6 3 33.3333 SAFB2 0 genome.wustl.edu 37 19 5592763 5592763 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 5592763 5592763 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known silent c.2343 p.I781 0.003 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 53 0 0 32 11 25.5814 ZNF628 0 genome.wustl.edu 37 19 55993938 55993938 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 55993938 55993938 G T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.1378 p.G460C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 30 0 0 12 4 25 ZNF470 0 genome.wustl.edu 37 19 57088950 57088950 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 57088950 57088950 C T SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.1153 p.R385C 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 ZNF470 HGNC ENSG00000197016 143 0 0 102 29 22.1374 ZIM2 0 genome.wustl.edu 37 19 57286617 57286617 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 57286617 57286617 T C SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known silent c.1023 p.V341 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 190 0 0 156 37 19.171 ZNF776 0 genome.wustl.edu 37 19 58266024 58266024 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 58266024 58266024 T C SNP ZNF776 ENST00000317178 human ensembl 74_37 +1 known missense c.1526 p.V509A 0.118 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 ZNF776 HGNC ENSG00000152443 129 0 0 94 29 23.5772 ZNF814 0 genome.wustl.edu 37 19 58385049 58385049 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 58385049 58385049 T C SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1709 p.H570R 0.994 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 ZNF814 HGNC ENSG00000204514 56 0 0 47 21 30.8824 ZNF814 0 genome.wustl.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 58385762 58385762 C G SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known silent c.996 p.S332 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 ZNF814 HGNC ENSG00000204514 12 0 0 6 3 33.3333 ZSCAN1 0 genome.wustl.edu 37 19 58565039 58565039 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 58565039 58565039 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.847 p.P283S 0.011 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 56 0 0 70 5 6.66667 ZNF8 0 genome.wustl.edu 37 19 58806136 58806136 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 58806136 58806136 C T SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known missense c.962 p.S321F 0.997 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 ZNF8 Uniprot_gn ENSG00000083842 112 0 0 94 28 22.9508 ZSCAN22 0 genome.wustl.edu 37 19 58849911 58849911 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 58849911 58849911 C T SNP ZSCAN22 ENST00000329665 human ensembl 74_37 +1 known missense c.695 p.A232V 0.000 NULL 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 ZSCAN22 HGNC ENSG00000182318 340 0 0 242 70 22.4359 ZNF324B 0 genome.wustl.edu 37 19 58967706 58967706 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 58967706 58967706 C T SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known silent c.1395 p.G465 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 ZNF324B HGNC ENSG00000249471 112 0 0 74 16 17.7778 RFX2 0 genome.wustl.edu 37 19 6016119 6016119 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 6016119 6016119 G A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.761 p.T254M 0.997 pfam_DNA-bd_RFX pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 63 0 0 49 11 18.3333 POLRMT 0 genome.wustl.edu 37 19 621725 621725 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 621725 621725 G A SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.1973 p.P658L 0.298 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 19 0 0 8 6 42.8571 DENND1C 0 genome.wustl.edu 37 19 6470356 6470356 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 6470356 6470356 G A SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known missense c.1312 p.H438Y 0.991 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 19 0 0 7 5 41.6667 TRIP10 0 genome.wustl.edu 37 19 6743586 6743586 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 6743586 6743586 G A SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.490 p.A164T 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 61 0 0 49 19 27.9412 ENSG00000269680 0 genome.wustl.edu 37 19 6751381 6751381 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 6751381 6751381 C T SNP ENSG00000269680 ENST00000594056 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3128G10.6 Clone_based_vega_gene ENSG00000269680 11 0 0 5 4 44.4444 SH2D3A 0 genome.wustl.edu 37 19 6752655 6752655 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 6752655 6752655 C T SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known silent c.1680 p.K560 1.000 smart_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 11 0 0 4 3 42.8571 C19orf45 0 genome.wustl.edu 37 19 7573246 7573246 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 7573246 7573246 G A SNP C19orf45 ENST00000361664 human ensembl 74_37 +1 known missense c.1448 p.R483H 0.000 NULL NULL - no_errors C19orf45 HGNC ENSG00000198723 61 0 0 33 10 23.2558 MISP 0 genome.wustl.edu 37 19 758615 758615 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 758615 758615 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.1669 p.R557W 0.851 NULL NULL - no_errors MISP HGNC ENSG00000099812 109 0 0 79 21 21 XAB2 0 genome.wustl.edu 37 19 7687494 7687494 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 7687494 7687494 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.1425 p.P475 0.412 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 70 0 0 55 10 15.3846 CLEC4M 0 genome.wustl.edu 37 19 7830511 7830511 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 7830511 7830511 C T SNP CLEC4M ENST00000359059 human ensembl 74_37 +1 known missense c.139 p.L47F 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4M HGNC ENSG00000104938 104 0 0 105 7 6.25 CTXN1 0 genome.wustl.edu 37 19 7990265 7990265 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 7990265 7990265 C T SNP CTXN1 ENST00000318978 human ensembl 74_37 -1 known silent c.159 p.L53 1.000 pfam_Cortexin pfam_Cortexin - no_errors CTXN1 HGNC ENSG00000178531 19 0 0 5 3 37.5 LPPR3 0 genome.wustl.edu 37 19 815844 815844 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 815844 815844 A G SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known missense c.83 p.I28T 0.999 superfamily_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 LPPR3 Uniprot_gn ENSG00000129951 48 0 0 33 6 15.3846 ADAMTS10 0 genome.wustl.edu 37 19 8651120 8651120 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 8651120 8651120 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.2546 p.A849V 0.979 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 32 0 0 21 8 27.5862 MED16 0 genome.wustl.edu 37 19 877065 877065 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 877065 877065 T G SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1469 p.D490A 1.000 pfam_Mediator_Med16 pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 30 0 0 25 3 10.7143 MUC16 0 genome.wustl.edu 37 19 9026257 9026257 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 9026257 9026257 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.36729 p.Y12243 0.000 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 246 1 0.404858 185 41 18.1416 MUC16 0 genome.wustl.edu 37 19 9072974 9072974 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 9072974 9072974 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.14472 p.T4824 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 144 0 0 116 34 22.6667 ZNF562 0 genome.wustl.edu 37 19 9764462 9764462 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 9764462 9764462 A G SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known silent c.444 p.N148 0.008 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 ZNF562 HGNC ENSG00000171466 186 0 0 130 43 24.8555 GRHL1 0 genome.wustl.edu 37 2 10140825 10140825 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 10140825 10140825 C T SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known missense c.1847 p.T616M 1.000 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 173 0 0 107 40 27.2109 RNF149 0 genome.wustl.edu 37 2 101910512 101910512 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 101910512 101910512 G A SNP RNF149 ENST00000295317 human ensembl 74_37 -1 known silent c.744 p.G248 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 280 0 0 212 50 19.084 NCK2 0 genome.wustl.edu 37 2 106497880 106497880 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 106497880 106497880 G A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.323 p.R108H 1.000 pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 36 0 0 29 6 17.1429 ATP6V1C2 0 genome.wustl.edu 37 2 10908887 10908887 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 10908887 10908887 G A SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.421 p.A141T 0.761 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 102 1 0.970874 79 5 5.95238 SH3RF3 0 genome.wustl.edu 37 2 109964227 109964227 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 109964227 109964227 G A SNP SH3RF3 ENST00000309415 human ensembl 74_37 +1 known missense c.671 p.R224Q 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING - no_errors SH3RF3 HGNC ENSG00000172985 54 0 0 29 12 29.2683 KCNF1 0 genome.wustl.edu 37 2 11053802 11053802 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 11053802 11053802 G A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.1250 p.R417H 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 54 0 0 32 12 27.2727 ANAPC1 0 genome.wustl.edu 37 2 112608477 112608477 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 112608477 112608477 A G SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.1526 p.V509A 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 73 0 0 74 10 11.9048 ZC3H6 0 genome.wustl.edu 37 2 113089479 113089479 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 113089479 113089479 C T SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.2984 p.A995V 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 73 0 0 62 13 17.3333 RGPD8 0 genome.wustl.edu 37 2 113147712 113147712 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 113147712 113147712 T C SNP RGPD8 ENST00000302558 human ensembl 74_37 -1 known missense c.2810 p.E937G 0.565 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 398 0 0 238 71 22.9773 CKAP2L 0 genome.wustl.edu 37 2 113520087 113520087 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 113520087 113520087 T A SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.97 p.N33Y 0.419 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 89 0 0 63 23 26.7442 LPIN1 0 genome.wustl.edu 37 2 11923961 11923961 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 11923961 11923961 G A SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.1418 p.R473Q 0.999 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 441 0 0 288 101 25.964 GLI2 0 genome.wustl.edu 37 2 121746587 121746587 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 121746587 121746587 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.3097 p.E1033K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 23 0 0 15 5 25 TFCP2L1 0 genome.wustl.edu 37 2 121997154 121997154 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 121997154 121997154 G A SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known silent c.840 p.N280 0.983 superfamily_SAM/pointed pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 95 0 0 49 11 18.3333 CLASP1 0 genome.wustl.edu 37 2 122286272 122286272 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 122286272 122286272 T C SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.359 p.D120G 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 300 0 0 252 58 18.7097 IWS1 0 genome.wustl.edu 37 2 128249666 128249666 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 128249666 128249666 T C SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known splice_site c.1930-2 e10-2 1.000 - - - no_errors IWS1 HGNC ENSG00000163166 82 0 0 73 16 17.9775 IWS1 0 genome.wustl.edu 37 2 128250886 128250886 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 128250886 128250886 G A SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.1900 p.R634W 1.000 superfamily_TFIIS_N pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 135 1 0.735294 93 33 26.1905 POTEF 0 genome.wustl.edu 37 2 130832415 130832415 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 130832415 130832415 C T SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2630 p.R877H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 75 0 0 41 5 10.8696 PLEKHB2 0 genome.wustl.edu 37 2 132110744 132110744 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 132110744 132110744 G A SNP PLEKHB2 ENST00000303908 human ensembl 74_37 +1 known missense c.575 p.R192H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 14 0 0 11 5 31.25 MZT2A 0 genome.wustl.edu 37 2 132241708 132241708 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 132241708 132241708 G A SNP MZT2A ENST00000309451 human ensembl 74_37 -1 known missense c.403 p.P135S 1.000 NULL NULL - no_errors MZT2A HGNC ENSG00000173272 153 0 0 124 15 10.7914 GPR39 0 genome.wustl.edu 37 2 133174929 133174929 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 133174929 133174929 C A SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.314 p.T105N 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 108 0 0 71 27 27.551 NCKAP5 0 genome.wustl.edu 37 2 133540971 133540971 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 133540971 133540971 T C SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3413 p.H1138R 0.902 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 252 0 0 190 50 20.8333 KIF5C 0 genome.wustl.edu 37 2 149806952 149806952 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 149806952 149806952 A G SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.944 p.K315R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom 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 59 0 0 46 8 14.8148 CACNB4 0 genome.wustl.edu 37 2 152695721 152695721 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 152695721 152695721 T C SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known missense c.1475 p.Y492C 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 113 0 0 71 16 18.3908 CACNB4 0 genome.wustl.edu 37 2 152737372 152737372 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 152737372 152737372 A G SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known missense c.332 p.V111A 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 42 0 0 39 10 20.4082 KCNJ3 0 genome.wustl.edu 37 2 155555962 155555962 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 155555962 155555962 C T SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known silent c.675 p.S225 0.537 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_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 31 0 0 14 4 22.2222 TANC1 0 genome.wustl.edu 37 2 160087129 160087129 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 160087129 160087129 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.5192 p.A1731V 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 153 1 0.649351 131 23 14.9351 TBR1 0 genome.wustl.edu 37 2 162274319 162274319 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 162274319 162274319 C T SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.825 p.G275 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 138 0 0 90 31 25.6198 PXDN 0 genome.wustl.edu 37 2 1653400 1653400 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 1653400 1653400 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2152 p.A718T 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 99 0 0 64 23 26.4368 LRP2 0 genome.wustl.edu 37 2 170044552 170044552 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 170044552 170044552 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9256 p.R3086C 0.985 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 204 0 0 164 42 20.3883 WIPF1 0 genome.wustl.edu 37 2 175432803 175432803 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 175432803 175432803 T C SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known splice_site c.1130-2 e5-2 0.998 - - - no_errors WIPF1 HGNC ENSG00000115935 38 0 0 37 6 13.9535 CHRNA1 0 genome.wustl.edu 37 2 175622359 175622359 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 175622359 175622359 G A SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known silent c.354 p.G118 0.009 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt 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 - no_errors CHRNA1 HGNC ENSG00000138435 131 0 0 99 24 19.5122 HOXD9 0 genome.wustl.edu 37 2 176987564 176987564 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 176987564 176987564 A G SNP HOXD9 ENST00000249499 human ensembl 74_37 +1 known missense c.68 p.D23G 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 22 0 0 21 5 19.2308 TTN 0 genome.wustl.edu 37 2 179422756 179422756 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 179422756 179422756 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79621 p.T26541A 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 338 0 0 235 81 25.6329 TTN 0 genome.wustl.edu 37 2 179474066 179474066 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 179474066 179474066 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.44267 p.I14756T 0.959 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 90 0 0 76 14 15.5556 TTN 0 genome.wustl.edu 37 2 179474465 179474465 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 179474465 179474465 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.43981 p.G14661C 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 485 0 0 320 121 27.4376 TTN 0 genome.wustl.edu 37 2 179484758 179484758 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 179484758 179484758 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.38682 p.C12894 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 153 0 0 111 36 24.4898 TTN 0 genome.wustl.edu 37 2 179498235 179498235 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 179498235 179498235 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.35147 p.R11716H 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 0 101 38 27.3381 GEN1 0 genome.wustl.edu 37 2 17961961 17961961 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 17961961 17961961 A C SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.1482 p.K494N 0.498 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 153 0 0 110 38 25.6757 TTN 0 genome.wustl.edu 37 2 179640257 179640257 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 179640257 179640257 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.6334 p.Y2112H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 137 0 0 84 18 17.6471 ZNF385B 0 genome.wustl.edu 37 2 180309623 180309623 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 180309623 180309623 G A SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.1177 p.R393W 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 364 0 0 234 79 25.2396 NUP35 0 genome.wustl.edu 37 2 184023042 184023042 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 184023042 184023042 G A SNP NUP35 ENST00000295119 human ensembl 74_37 +1 known missense c.641 p.R214H 1.000 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 - no_errors NUP35 HGNC ENSG00000163002 105 0 0 70 23 24.7312 ITGAV 0 genome.wustl.edu 37 2 187541575 187541575 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 187541575 187541575 G A SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known silent c.2964 p.A988 0.037 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 204 0 0 144 41 22.1622 TFPI 0 genome.wustl.edu 37 2 188348879 188348879 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 188348879 188348879 C T SNP TFPI ENST00000233156 human ensembl 74_37 -1 known silent c.600 p.P200 0.000 pirsf_Prot_inhib_I2_TFPI pirsf_Prot_inhib_I2_TFPI,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 - no_errors TFPI HGNC ENSG00000003436 129 0 0 78 24 23.5294 COL5A2 0 genome.wustl.edu 37 2 189907474 189907474 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 189907474 189907474 G T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.3497 p.A1166D 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 75 0 0 36 9 20 STAT4 0 genome.wustl.edu 37 2 191898219 191898219 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 191898219 191898219 T A SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.1849 p.S617C 0.976 pfam_SH2,pfscan_SH2 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 118 0 0 85 29 25.4386 MYO1B 0 genome.wustl.edu 37 2 192228478 192228478 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 192228478 192228478 A G SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.790 p.M264V 0.935 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 266 0 0 200 46 18.6992 TMEFF2 0 genome.wustl.edu 37 2 193049142 193049142 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 193049142 193049142 C T SNP TMEFF2 ENST00000272771 human ensembl 74_37 -1 known missense c.350 p.R117Q 0.996 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 139 0 0 84 33 28.2051 DNAH7 0 genome.wustl.edu 37 2 196605585 196605585 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 196605585 196605585 T C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.11773 p.I3925V 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 175 0 0 126 33 20.7547 SATB2 0 genome.wustl.edu 37 2 200173523 200173523 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 200173523 200173523 C T SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.1700 p.R567H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 184 0 0 100 32 24.2424 TYW5 0 genome.wustl.edu 37 2 200813094 200813094 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 200813094 200813094 A G SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known silent c.180 p.I60 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 187 0 0 160 23 12.5683 CASP10 0 genome.wustl.edu 37 2 202070608 202070608 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 202070608 202070608 A C SNP CASP10 ENST00000286186 human ensembl 74_37 +1 known missense c.725 p.N242T 0.000 NULL pfam_Pept_C14_caspase,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,prints_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP10 HGNC ENSG00000003400 92 0 0 54 20 27.027 NRP2 0 genome.wustl.edu 37 2 206587232 206587232 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 206587232 206587232 G A SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.464 p.S155N 0.998 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_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 99 0 0 73 19 20.6522 INO80D 0 genome.wustl.edu 37 2 206874404 206874404 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 206874404 206874404 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.1657 p.R553C 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 58 0 0 41 12 22.6415 INO80D 0 genome.wustl.edu 37 2 206884472 206884472 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 206884472 206884472 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.1396 p.H466Y 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 49 0 0 47 10 17.5439 FASTKD2 0 genome.wustl.edu 37 2 207636937 207636937 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 207636937 207636937 A T SNP FASTKD2 ENST00000236980 human ensembl 74_37 +1 known missense c.1147 p.I383F 0.001 NULL pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 168 0 0 94 37 28.2443 CRYGD 0 genome.wustl.edu 37 2 208988911 208988911 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 208988911 208988911 G A SNP CRYGD ENST00000264376 human ensembl 74_37 -1 known silent c.177 p.R59 0.720 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_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 CRYGD HGNC ENSG00000118231 33 0 0 27 8 22.8571 APOB 0 genome.wustl.edu 37 2 21233212 21233212 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 21233212 21233212 T C SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.6528 p.T2176 0.908 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 114 0 0 68 24 26.087 APOB 0 genome.wustl.edu 37 2 21235467 21235467 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 21235467 21235467 A G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.4273 p.S1425P 0.001 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 158 1 0.628931 124 29 18.9542 FN1 0 genome.wustl.edu 37 2 216274341 216274341 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 216274341 216274341 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.2244 p.S748 0.029 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 97 0 0 51 25 32.8947 MREG 0 genome.wustl.edu 37 2 216809644 216809644 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 216809644 216809644 A G SNP MREG ENST00000263268 human ensembl 74_37 -1 known missense c.587 p.V196A 0.756 NULL NULL - no_errors MREG HGNC ENSG00000118242 69 0 0 48 13 21.3115 RPL37A 0 genome.wustl.edu 37 2 217366124 217366124 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 217366124 217366124 G A SNP RPL37A ENST00000491306 human ensembl 74_37 +1 known silent c.276 p.Q92 1.000 NULL pfam_Ribosomal_L37ae,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L37ae - no_errors RPL37A HGNC ENSG00000197756 105 0 0 55 19 25.6757 TNS1 0 genome.wustl.edu 37 2 218686571 218686571 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 218686571 218686571 G T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.3152 p.A1051D 0.000 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 20 0 0 5 3 37.5 AAMP 0 genome.wustl.edu 37 2 219131233 219131233 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 219131233 219131233 C T SNP AAMP ENST00000248450 human ensembl 74_37 -1 known silent c.612 p.P204 0.022 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 AAMP HGNC ENSG00000127837 68 0 0 40 20 33.3333 FEV 0 genome.wustl.edu 37 2 219846723 219846723 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 219846723 219846723 A G SNP FEV ENST00000295727 human ensembl 74_37 -1 known missense c.383 p.F128S 1.000 pfam_Ets_dom,smart_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FEV HGNC ENSG00000163497 20 0 0 22 7 24.1379 ATG9A 0 genome.wustl.edu 37 2 220085516 220085516 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 220085516 220085516 C T SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.2467 p.V823M 0.998 NULL pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 116 1 0.854701 77 28 26.6667 SPEG 0 genome.wustl.edu 37 2 220342646 220342646 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 220342646 220342646 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.4846 p.R1616W 1.000 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 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 181 0 0 105 31 22.7941 ASIC4 0 genome.wustl.edu 37 2 220402406 220402406 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 220402406 220402406 G A SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known missense c.1778 p.R593Q 0.993 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 55 0 0 34 9 20.9302 OBSL1 0 genome.wustl.edu 37 2 220418400 220418400 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 220418400 220418400 C A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.4885 p.V1629L 1.000 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 31 0 0 24 3 11.1111 WDFY1 0 genome.wustl.edu 37 2 224746715 224746715 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 224746715 224746715 G A SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known silent c.1008 p.G336 1.000 pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 399 0 0 269 76 22.029 IRS1 0 genome.wustl.edu 37 2 227663330 227663330 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 227663330 227663330 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.125 p.A42V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 123 1 0.806452 90 25 21.7391 HTR2B 0 genome.wustl.edu 37 2 231973769 231973769 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 231973769 231973769 C T SNP HTR2B ENST00000258400 human ensembl 74_37 -1 known missense c.908 p.R303Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ENSG00000135914 327 0 0 234 65 21.7391 NGEF 0 genome.wustl.edu 37 2 233834974 233834974 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 233834974 233834974 C T SNP NGEF ENST00000264051 human ensembl 74_37 -1 known missense c.333 p.M111I 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 212 0 0 154 46 23 UGT1A6 0 genome.wustl.edu 37 2 234602124 234602124 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 234602124 234602124 C T SNP UGT1A6 ENST00000305139 human ensembl 74_37 +1 known silent c.474 p.I158 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 302 0 0 212 60 22.0588 ESPNL 0 genome.wustl.edu 37 2 239038938 239038938 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 239038938 239038938 G A SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.1583 p.S528N 0.743 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 10 0 0 11 5 31.25 ILKAP 0 genome.wustl.edu 37 2 239079276 239079276 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 239079276 239079276 G A SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known silent c.1080 p.D360 0.576 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 ILKAP HGNC ENSG00000132323 89 0 0 46 17 26.9841 OTOF 0 genome.wustl.edu 37 2 26693574 26693574 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 26693574 26693574 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3910 p.E1304K 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 85 0 0 55 19 25.6757 OTOF 0 genome.wustl.edu 37 2 26696092 26696092 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 26696092 26696092 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3641 p.R1214H 1.000 pfam_C2_dom,superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 45 0 0 36 9 20 GPN1 0 genome.wustl.edu 37 2 27851977 27851977 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 27851977 27851977 C T SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known missense c.94 p.H32Y 0.000 smart_AAA+_ATPase pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 96 0 0 70 13 15.6627 FOSL2 0 genome.wustl.edu 37 2 28627079 28627079 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 28627079 28627079 A G SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.208 p.T70A 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 132 0 0 80 24 23.0769 TRMT61B 0 genome.wustl.edu 37 2 29083987 29083987 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 29083987 29083987 G A SNP TRMT61B ENST00000306108 human ensembl 74_37 -1 known silent c.990 p.D330 1.000 pfam_tRNA_MeTrfase_GCD14,pfam_PCMT pfam_tRNA_MeTrfase_GCD14,pfam_PCMT - no_errors TRMT61B HGNC ENSG00000171103 145 0 0 101 30 22.9008 CAPN13 0 genome.wustl.edu 37 2 30987098 30987098 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 30987098 30987098 A G SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.599 p.I200T 0.994 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 41 0 0 28 7 20 CRIM1 0 genome.wustl.edu 37 2 36704126 36704126 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 36704126 36704126 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known silent c.1086 p.G362 0.409 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C 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 193 1 0.515464 148 50 25.2525 VIT 0 genome.wustl.edu 37 2 37035710 37035710 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 37035710 37035710 C T SNP VIT ENST00000379242 human ensembl 74_37 +1 known silent c.1485 p.D495 1.000 NULL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 94 0 0 55 16 22.5352 THUMPD2 0 genome.wustl.edu 37 2 39964026 39964026 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 39964026 39964026 G A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known missense c.1361 p.A454V 0.000 NULL pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 371 0 0 264 65 19.7568 ABCG8 0 genome.wustl.edu 37 2 44099366 44099366 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 44099366 44099366 G A SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known missense c.1132 p.V378M 0.132 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 88 0 0 64 19 22.8916 PPM1B 0 genome.wustl.edu 37 2 44459529 44459529 + RNA SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 44459529 44459529 A G SNP PPM1B ENST00000459690 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PPM1B HGNC ENSG00000138032 140 0 0 128 26 16.8831 PRKCE 0 genome.wustl.edu 37 2 45879393 45879393 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 45879393 45879393 G A SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.154 p.G52S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 81 0 0 51 9 15 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808788 48808788 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 48808788 48808788 G A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.1016 p.S339N 0.999 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 254 0 0 158 50 24.0385 FSHR 0 genome.wustl.edu 37 2 49190059 49190059 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 49190059 49190059 C T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.1901 p.R634H 1.000 prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn 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 107 0 0 64 17 20.9877 NRXN1 0 genome.wustl.edu 37 2 51255151 51255151 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 51255151 51255151 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.261 p.G87 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 14 0 0 9 5 35.7143 PSME4 0 genome.wustl.edu 37 2 54119956 54119956 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 54119956 54119956 T A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.4180 p.T1394S 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 186 0 0 125 41 24.6988 PNPT1 0 genome.wustl.edu 37 2 55870530 55870530 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 55870530 55870530 G A SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known missense c.1937 p.T646M 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 160 0 0 114 31 21.3793 PUS10 0 genome.wustl.edu 37 2 61188656 61188656 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 61188656 61188656 T C SNP PUS10 ENST00000316752 human ensembl 74_37 -1 known silent c.816 p.P272 1.000 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 444 0 0 327 77 19.0594 UGP2 0 genome.wustl.edu 37 2 64111196 64111196 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 64111196 64111196 C T SNP UGP2 ENST00000337130 human ensembl 74_37 +1 known missense c.544 p.R182C 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 130 0 0 89 20 18.3486 CEP68 0 genome.wustl.edu 37 2 65298797 65298797 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 65298797 65298797 C T SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known silent c.567 p.S189 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 86 0 0 47 19 28.7879 SPRED2 0 genome.wustl.edu 37 2 65541135 65541135 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 65541135 65541135 G A SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known missense c.757 p.R253C 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 153 0 0 90 27 23.0769 ADD2 0 genome.wustl.edu 37 2 70900460 70900460 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 70900460 70900460 T C SNP ADD2 ENST00000355733 human ensembl 74_37 -1 putative splice_site c.1742-2 e13-2 0.004 - - - no_errors ADD2 HGNC ENSG00000075340 53 0 0 62 14 18.4211 CLEC4F 0 genome.wustl.edu 37 2 71043195 71043195 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 71043195 71043195 G A SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known nonsense c.1318 p.Q440* 0.064 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 111 0 0 84 24 22.2222 ZNF638 0 genome.wustl.edu 37 2 71658541 71658541 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 71658541 71658541 C T SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.5735 p.A1912V 0.003 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 86 0 0 62 18 22.5 DYSF 0 genome.wustl.edu 37 2 71801436 71801436 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 71801436 71801436 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3376 p.R1126C 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 162 0 0 76 21 21.6495 ALMS1 0 genome.wustl.edu 37 2 73676827 73676827 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 73676827 73676827 T C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.3170 p.V1057A 0.007 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 277 0 0 175 55 23.913 ALMS1 0 genome.wustl.edu 37 2 73680921 73680921 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 73680921 73680921 A C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.7264 p.N2422H 0.761 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 228 0 0 168 46 21.4953 C2orf78 0 genome.wustl.edu 37 2 74042785 74042785 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 74042785 74042785 G A SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.1435 p.A479T 0.000 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 77 0 0 55 21 27.6316 DCTN1 0 genome.wustl.edu 37 2 74596483 74596483 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 74596483 74596483 C T SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.1528 p.V510I 1.000 superfamily_P-loop_NTPase 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 81 0 0 65 22 25.2874 CTNNA2 0 genome.wustl.edu 37 2 80085186 80085186 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 80085186 80085186 T A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.448 p.S150T 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 155 0 0 120 27 18.3673 CTNNA2 0 genome.wustl.edu 37 2 80085188 80085188 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 80085188 80085188 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.450 p.S150 0.002 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 153 0 0 102 45 30.6122 LRRTM1 0 genome.wustl.edu 37 2 80530111 80530111 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 80530111 80530111 G T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.834 p.T278 0.975 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 78 0 0 45 13 22.4138 TRABD2A 0 genome.wustl.edu 37 2 85051153 85051153 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 85051153 85051153 G A SNP TRABD2A ENST00000409520 human ensembl 74_37 -1 known missense c.1258 p.R420W 0.003 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 36 0 0 22 9 29.0323 ELMOD3 0 genome.wustl.edu 37 2 85598687 85598687 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 85598687 85598687 T C SNP ELMOD3 ENST00000315658 human ensembl 74_37 +1 known splice_site c.607+2 e7+2 1.000 - - - no_errors ELMOD3 HGNC ENSG00000115459 155 0 0 116 26 18.3099 SFTPB 0 genome.wustl.edu 37 2 85893744 85893744 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 85893744 85893744 T C SNP SFTPB ENST00000393822 human ensembl 74_37 -1 known missense c.425 p.Q142R 0.994 pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 119 1 0.833333 101 21 17.2131 MRPL35 0 genome.wustl.edu 37 2 86437712 86437712 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 86437712 86437712 C T SNP MRPL35 ENST00000337109 human ensembl 74_37 +1 known missense c.488 p.T163M 0.984 NULL pfam_Ribosomal_L35 - no_errors MRPL35 HGNC ENSG00000132313 157 0 0 112 43 27.7419 KCNIP3 0 genome.wustl.edu 37 2 96040058 96040058 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 96040058 96040058 G A SNP KCNIP3 ENST00000295225 human ensembl 74_37 +1 known missense c.196 p.E66K 1.000 NULL pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP3 HGNC ENSG00000115041 110 0 0 73 14 16.092 SNRNP200 0 genome.wustl.edu 37 2 96943411 96943411 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 96943411 96943411 T C SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.5797 p.N1933D 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 129 1 0.769231 88 24 21.4286 CNNM4 0 genome.wustl.edu 37 2 97463265 97463265 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 97463265 97463265 G A SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.1562 p.R521Q 1.000 NULL pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 99 0 0 71 35 33.0189 ZAP70 0 genome.wustl.edu 37 2 98340772 98340772 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 98340772 98340772 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.273 p.P91 0.028 smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 16 0 0 3 2 40 JAG1 0 genome.wustl.edu 37 20 10620527 10620527 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 10620527 10620527 G A SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.3276 p.C1092 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 45 0 0 22 4 15.3846 SNPH 0 genome.wustl.edu 37 20 1277814 1277814 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 1277814 1277814 C T SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.208 p.R70W 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 41 0 0 23 5 17.8571 PCSK2 0 genome.wustl.edu 37 20 17417441 17417441 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 17417441 17417441 C T SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known silent c.798 p.S266 0.922 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 79 0 0 38 20 34.4828 RALGAPA2 0 genome.wustl.edu 37 20 20586055 20586055 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 20586055 20586055 G A SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.1802 p.T601M 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 59 0 0 40 11 21.5686 TPX2 0 genome.wustl.edu 37 20 30370135 30370135 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 30370135 30370135 G A SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.1246 p.A416T 1.000 pfam_TPX2_central_dom pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 293 0 0 170 51 23.0769 FOXS1 0 genome.wustl.edu 37 20 30433127 30433127 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 30433127 30433127 G A SNP FOXS1 ENST00000375978 human ensembl 74_37 -1 known silent c.219 p.N73 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 81 0 0 56 15 21.1268 BPIFA3 0 genome.wustl.edu 37 20 31805219 31805219 + RNA SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 31805219 31805219 G T SNP BPIFA3 ENST00000471233 human ensembl 74_37 +1 known rna NULL NULL 0.742 - - - no_errors BPIFA3 HGNC ENSG00000131059 30 0 0 21 6 22.2222 MYL9 0 genome.wustl.edu 37 20 35176475 35176475 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 35176475 35176475 C T SNP MYL9 ENST00000279022 human ensembl 74_37 +1 known silent c.225 p.S75 0.587 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL9 HGNC ENSG00000101335 43 0 0 29 6 17.1429 TGM2 0 genome.wustl.edu 37 20 36767986 36767986 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 36767986 36767986 C T SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known silent c.1170 p.A390 0.044 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 119 0 0 63 19 23.1707 DHX35 0 genome.wustl.edu 37 20 37638972 37638972 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 37638972 37638972 T C SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.1272 p.R424 0.970 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 172 0 0 100 27 21.2598 CDC25B 0 genome.wustl.edu 37 20 3780933 3780933 + Splice_Site SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 3780933 3780933 A C SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known splice_site c.381-2 e4-2 1.000 - - - no_errors CDC25B HGNC ENSG00000101224 80 0 0 44 14 24.1379 MAVS 0 genome.wustl.edu 37 20 3844972 3844972 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 3844972 3844972 G A SNP MAVS ENST00000428216 human ensembl 74_37 +1 known missense c.695 p.R232H 0.840 NULL NULL - no_errors MAVS HGNC ENSG00000088888 177 1 0.561798 96 31 24.4094 PTPRT 0 genome.wustl.edu 37 20 41306614 41306614 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 41306614 41306614 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1045 p.H349Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 258 1 0.3861 145 41 22.043 SMOX 0 genome.wustl.edu 37 20 4164225 4164225 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 4164225 4164225 C T SNP SMOX ENST00000305958 human ensembl 74_37 +1 known missense c.1454 p.T485M 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 137 0 0 69 15 17.8571 ADRA1D 0 genome.wustl.edu 37 20 4229311 4229311 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 4229311 4229311 G A SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known silent c.294 p.G98 0.859 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 8 0 0 8 5 38.4615 MYBL2 0 genome.wustl.edu 37 20 42302493 42302493 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 42302493 42302493 C T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.68 p.P23L 0.963 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 13 0 0 5 5 50 JPH2 0 genome.wustl.edu 37 20 42788479 42788479 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 42788479 42788479 G A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known silent c.948 p.G316 0.996 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 43 0 0 30 9 23.0769 HNF4A 0 genome.wustl.edu 37 20 43057109 43057109 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 43057109 43057109 C T SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known nonsense c.1264 p.R422* 0.997 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 57 0 0 32 10 23.8095 NEURL2 0 genome.wustl.edu 37 20 44518902 44518902 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 44518902 44518902 C A SNP NEURL2 ENST00000372518 human ensembl 74_37 -1 known missense c.729 p.Q243H 1.000 pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 76 0 0 54 10 15.625 ZNF334 0 genome.wustl.edu 37 20 45140720 45140720 + Splice_Site SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 45140720 45140720 C T SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known splice_site c.21+1 e1+1 1.000 - - - no_errors ZNF334 HGNC ENSG00000198185 132 0 0 95 27 22.1311 PRNP 0 genome.wustl.edu 37 20 4680491 4680491 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 4680491 4680491 G A SNP PRNP ENST00000379440 human ensembl 74_37 +1 known missense c.625 p.V209M 0.542 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 114 1 0.869565 90 8 8.16327 FAM65C 0 genome.wustl.edu 37 20 49214161 49214161 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 49214161 49214161 G A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.1746 p.F582 0.007 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 18 0 0 26 8 23.5294 MOCS3 0 genome.wustl.edu 37 20 49576679 49576679 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 49576679 49576679 T C SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known silent c.1300 p.L434 0.983 pfam_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 170 0 0 105 42 28.5714 KCNG1 0 genome.wustl.edu 37 20 49626567 49626567 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 49626567 49626567 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.309 p.N103 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 69 0 0 30 11 26.8293 ZFP64 0 genome.wustl.edu 37 20 50768821 50768821 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 50768821 50768821 T C SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.1910 p.N637S 0.121 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 149 0 0 82 20 19.6078 ZFP64 0 genome.wustl.edu 37 20 50769100 50769100 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 50769100 50769100 C T SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.1631 p.R544H 0.970 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 60 0 0 46 12 20.6897 ZFP64 0 genome.wustl.edu 37 20 50769117 50769117 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 50769117 50769117 G T SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.1614 p.S538R 0.987 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 57 0 0 38 6 13.6364 CSTF1 0 genome.wustl.edu 37 20 54978560 54978560 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 54978560 54978560 A G SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.1073 p.Q358R 1.000 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 CSTF1 HGNC ENSG00000101138 96 0 0 55 15 21.4286 CTCFL 0 genome.wustl.edu 37 20 56078505 56078505 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 56078505 56078505 G A SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known silent c.1827 p.A609 0.088 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 246 0 0 143 44 23.5294 CDH4 0 genome.wustl.edu 37 20 60348097 60348097 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 60348097 60348097 T C SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.435 p.S145 0.000 superfamily_Cadherin-like 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 54 0 0 21 9 30 CDH4 0 genome.wustl.edu 37 20 60498692 60498692 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 60498692 60498692 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1558 p.V520M 0.425 pfam_Cadherin,superfamily_Cadherin-like,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 70 0 0 40 11 21.5686 MTG2 0 genome.wustl.edu 37 20 60770906 60770906 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 60770906 60770906 G A SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known missense c.253 p.G85R 0.998 pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 74 0 0 39 8 17.0213 DIDO1 0 genome.wustl.edu 37 20 61510982 61510982 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 61510982 61510982 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.6326 p.A2109V 0.005 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 231 1 0.431034 115 34 22.8188 DIDO1 0 genome.wustl.edu 37 20 61512957 61512957 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 61512957 61512957 C A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4351 p.D1451Y 0.033 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 189 0 0 108 39 26.5306 NKAIN4 0 genome.wustl.edu 37 20 61881322 61881322 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 61881322 61881322 C A SNP NKAIN4 ENST00000370316 human ensembl 74_37 -1 known missense c.157 p.G53C 0.998 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN4 HGNC ENSG00000101198 40 0 0 25 9 26.4706 ARFGAP1 0 genome.wustl.edu 37 20 61907543 61907543 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 61907543 61907543 T G SNP ARFGAP1 ENST00000353546 human ensembl 74_37 +1 known missense c.161 p.V54G 0.998 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 71 0 0 46 17 26.9841 HELZ2 0 genome.wustl.edu 37 20 62194495 62194495 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 62194495 62194495 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.5680 p.G1894S 1.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 21 0 0 7 3 30 RTEL1 0 genome.wustl.edu 37 20 62321137 62321137 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 62321137 62321137 C T SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.2060 p.A687V 1.000 superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 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 30 0 0 16 5 23.8095 ZNF512B 0 genome.wustl.edu 37 20 62591325 62591325 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 62591325 62591325 G A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known silent c.2595 p.D865 0.338 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 99 0 0 63 20 24.0964 TCEA2 0 genome.wustl.edu 37 20 62701593 62701593 + RNA SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 62701593 62701593 G T SNP TCEA2 ENST00000465111 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCEA2 HGNC ENSG00000171703 93 0 0 75 21 21.875 SRXN1 0 genome.wustl.edu 37 20 629410 629410 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 629410 629410 G A SNP SRXN1 ENST00000381962 human ensembl 74_37 -1 known missense c.362 p.T121I 1.000 pfam_ParB/Sulfiredoxin_dom,superfamily_ParB/Sulfiredoxin_dom,smart_ParB/Sulfiredoxin_dom,pirsf_Sulfiredoxin pfam_ParB/Sulfiredoxin_dom,superfamily_ParB/Sulfiredoxin_dom,smart_ParB/Sulfiredoxin_dom,pirsf_Sulfiredoxin - no_errors SRXN1 HGNC ENSG00000271303 220 0 0 115 34 22.8188 BMP2 0 genome.wustl.edu 37 20 6759236 6759236 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 6759236 6759236 G T SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known missense c.691 p.A231S 0.880 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 72 0 0 39 7 15.2174 PAK7 0 genome.wustl.edu 37 20 9520201 9520201 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 9520201 9520201 T C SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.2068 p.T690A 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_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 423 0 0 257 77 23.0539 BAGE2 0 genome.wustl.edu 37 21 11038824 11038824 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 11038824 11038824 G A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 504 0 0 487 27 5.25292 BAGE2 0 genome.wustl.edu 37 21 11098732 11098732 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 11098732 11098732 C T SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors BAGE2 HGNC ENSG00000187172 96 0 0 77 11 12.5 ADAMTS5 0 genome.wustl.edu 37 21 28305340 28305340 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 28305340 28305340 T C SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.1713 p.G571 0.081 superfamily_Thrombospondin_1_rpt,smart_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 47 0 0 35 6 14.6341 LTN1 0 genome.wustl.edu 37 21 30324485 30324485 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 30324485 30324485 T C SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.3479 p.E1160G 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 102 0 0 80 23 22.3301 KRTAP19-5 0 genome.wustl.edu 37 21 31874344 31874344 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 31874344 31874344 C T SNP KRTAP19-5 ENST00000334151 human ensembl 74_37 -1 known missense c.65 p.G22D 1.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-5 HGNC ENSG00000186977 133 0 0 90 23 20.354 TIAM1 0 genome.wustl.edu 37 21 32513434 32513434 + Splice_Site SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 32513434 32513434 A G SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known splice_site c.3774+2 e19+2 1.000 - - - no_errors TIAM1 HGNC ENSG00000156299 92 0 0 69 20 22.4719 SCAF4 0 genome.wustl.edu 37 21 33044413 33044413 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 33044413 33044413 A C SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.2743 p.F915V 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 51 8 13.5593 HUNK 0 genome.wustl.edu 37 21 33340661 33340661 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 33340661 33340661 C T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.974 p.T325M 0.618 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 129 0 0 106 31 22.6277 CRYZL1 0 genome.wustl.edu 37 21 34971554 34971554 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 34971554 34971554 G A SNP CRYZL1 ENST00000381554 human ensembl 74_37 -1 known missense c.578 p.A193V 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC ENSG00000205758 96 0 0 88 22 20 RUNX1 0 genome.wustl.edu 37 21 36252918 36252918 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 36252918 36252918 G A SNP RUNX1 ENST00000300305 human ensembl 74_37 -1 known silent c.444 p.T148 0.416 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 68 0 0 51 19 27.1429 CHAF1B 0 genome.wustl.edu 37 21 37788576 37788576 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 37788576 37788576 C T SNP CHAF1B ENST00000314103 human ensembl 74_37 +1 known missense c.1592 p.T531M 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B - no_errors CHAF1B HGNC ENSG00000159259 38 0 0 34 7 17.0732 KCNJ15 0 genome.wustl.edu 37 21 39671314 39671314 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 39671314 39671314 A G SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known missense c.131 p.D44G 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 178 0 0 115 35 23.3333 ETS2 0 genome.wustl.edu 37 21 40194777 40194777 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 40194777 40194777 C T SNP ETS2 ENST00000360214 human ensembl 74_37 +1 known silent c.1374 p.H458 0.997 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS2 HGNC ENSG00000157557 51 0 0 28 8 22.2222 IGSF5 0 genome.wustl.edu 37 21 41151166 41151166 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 41151166 41151166 T C SNP IGSF5 ENST00000380588 human ensembl 74_37 +1 novel missense c.868 p.C290R 0.006 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF5 HGNC ENSG00000183067 58 0 0 52 13 20 DSCAM 0 genome.wustl.edu 37 21 41416171 41416171 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 41416171 41416171 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.5217 p.G1739 0.516 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 51 0 0 36 8 18.1818 BACE2 0 genome.wustl.edu 37 21 42647470 42647470 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 42647470 42647470 G A SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known silent c.1476 p.L492 0.734 NULL pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 90 0 0 61 22 26.506 TMPRSS2 0 genome.wustl.edu 37 21 42866364 42866364 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 42866364 42866364 C T SNP TMPRSS2 ENST00000398585 human ensembl 74_37 -1 known missense c.268 p.A90T 0.003 NULL pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS2 HGNC ENSG00000184012 80 0 0 57 20 25.974 RRP1B 0 genome.wustl.edu 37 21 45107917 45107917 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 45107917 45107917 C T SNP RRP1B ENST00000340648 human ensembl 74_37 +1 known silent c.1662 p.P554 0.000 NULL pfam_Nop52 - no_errors RRP1B HGNC ENSG00000160208 23 0 0 20 6 23.0769 PWP2 0 genome.wustl.edu 37 21 45540348 45540348 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 45540348 45540348 C T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known silent c.1308 p.D436 0.896 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 216 1 0.460829 150 32 17.5824 AIRE 0 genome.wustl.edu 37 21 45711065 45711065 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 45711065 45711065 C A SNP AIRE ENST00000291582 human ensembl 74_37 +1 known missense c.967 p.L323M 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC ENSG00000160224 43 0 0 37 13 26 KRTAP10-9 0 genome.wustl.edu 37 21 46047185 46047185 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 46047185 46047185 G A SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known missense c.97 p.A33T 0.002 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 52 0 0 43 18 29.5082 KRTAP10-10 0 genome.wustl.edu 37 21 46057386 46057386 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 46057386 46057386 C T SNP KRTAP10-10 ENST00000380095 human ensembl 74_37 +1 known missense c.52 p.R18W 0.989 NULL NULL - no_errors KRTAP10-10 HGNC ENSG00000221859 156 1 0.636943 125 29 18.8312 COL6A1 0 genome.wustl.edu 37 21 47423577 47423577 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 47423577 47423577 G A SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.2737 p.A913T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 59 0 0 41 8 16.3265 MCM3AP 0 genome.wustl.edu 37 21 47697478 47697478 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 47697478 47697478 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.1821 p.Y607 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 208 0 0 139 47 25.2688 IL17RA 0 genome.wustl.edu 37 22 17581248 17581248 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 17581248 17581248 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known missense c.427 p.R143C 0.724 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 290 1 0.343643 240 61 20.2658 CECR1 0 genome.wustl.edu 37 22 17688177 17688177 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 17688177 17688177 G A SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.326 p.A109V 1.000 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 101 0 0 77 24 23.7624 CECR1 0 genome.wustl.edu 37 22 17690434 17690434 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 17690434 17690434 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.134 p.R45Q 0.000 pfam_A_deaminase_N,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 53 0 0 45 17 27.4194 DGCR5 0 genome.wustl.edu 37 22 18975310 18975310 + RNA SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 18975310 18975310 A G SNP DGCR5 ENST00000421572 human ensembl 74_37 +1 known rna NULL NULL 0.825 - - - no_errors DGCR5 HGNC ENSG00000237517 35 0 0 30 10 25 SEPT5 0 genome.wustl.edu 37 22 19709399 19709399 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 19709399 19709399 C T SNP SEPT5 ENST00000383045 human ensembl 74_37 +1 known missense c.896 p.T299M 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 70 0 0 54 15 21.7391 COMT 0 genome.wustl.edu 37 22 19956143 19956143 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 19956143 19956143 C T SNP COMT ENST00000361682 human ensembl 74_37 +1 known missense c.700 p.R234C 0.997 pirsf_Catechol_O-MeTrfase_euk pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk - no_errors COMT HGNC ENSG00000093010 69 0 0 51 16 23.8806 PI4KA 0 genome.wustl.edu 37 22 21082088 21082088 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 21082088 21082088 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.4747 p.V1583I 1.000 superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom 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 114 0 0 67 17 20.2381 LZTR1 0 genome.wustl.edu 37 22 21343941 21343941 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 21343941 21343941 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known silent c.621 p.L207 0.978 NULL 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 42 0 0 35 7 16.6667 BCR 0 genome.wustl.edu 37 22 23653915 23653915 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 23653915 23653915 C T SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.3214 p.R1072C 0.998 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_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 34 0 0 38 7 15.5556 ZNF70 0 genome.wustl.edu 37 22 24086165 24086165 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 24086165 24086165 C T SNP ZNF70 ENST00000341976 human ensembl 74_37 -1 known missense c.1163 p.G388D 0.681 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 186 0 0 149 72 32.5792 SNRPD3 0 genome.wustl.edu 37 22 24964007 24964007 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 24964007 24964007 T C SNP SNRPD3 ENST00000439775 human ensembl 74_37 +1 known splice_site c.180+2 e2+2 0.998 - - - no_errors SNRPD3 HGNC ENSG00000100028 125 1 0.793651 97 28 22.4 MYO18B 0 genome.wustl.edu 37 22 26423370 26423370 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 26423370 26423370 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7430 p.T2477M 0.006 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 82 0 0 81 25 23.5849 SEZ6L 0 genome.wustl.edu 37 22 26747187 26747187 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 26747187 26747187 G A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.2577 p.T859 0.140 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 SEZ6L HGNC ENSG00000100095 124 0 0 80 25 23.8095 MTMR3 0 genome.wustl.edu 37 22 30413941 30413941 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 30413941 30413941 G A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.1700 p.R567H 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 181 0 0 117 37 24.026 TBC1D10A 0 genome.wustl.edu 37 22 30691728 30691728 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 30691728 30691728 G A SNP TBC1D10A ENST00000215790 human ensembl 74_37 -1 known silent c.522 p.H174 0.777 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 TBC1D10A HGNC ENSG00000099992 43 0 0 25 7 21.875 GAL3ST1 0 genome.wustl.edu 37 22 30951416 30951416 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 30951416 30951416 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known silent c.796 p.L266 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 82 0 0 80 15 15.7895 INPP5J 0 genome.wustl.edu 37 22 31524009 31524009 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 31524009 31524009 C T SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known silent c.1860 p.I620 0.812 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 43 0 0 23 10 30.303 PLA2G3 0 genome.wustl.edu 37 22 31534345 31534345 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 31534345 31534345 G A SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known silent c.699 p.G233 0.993 pfam_PLipase_A2,superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 53 0 0 35 13 27.0833 PISD 0 genome.wustl.edu 37 22 32017120 32017120 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 32017120 32017120 A G SNP PISD ENST00000439502 human ensembl 74_37 -1 known missense c.706 p.C236R 0.000 pfam_PS_Dcarbxylase,tigrfam_PS_decarb pfam_PS_Dcarbxylase,tigrfam_PS_decarb - no_errors PISD HGNC ENSG00000241878 91 0 0 55 21 27.6316 DEPDC5 0 genome.wustl.edu 37 22 32200207 32200207 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 32200207 32200207 A G SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.1141 p.K381E 1.000 pfam_IML1 pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 190 0 0 131 36 21.5569 DEPDC5 0 genome.wustl.edu 37 22 32302427 32302427 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 32302427 32302427 C T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.4690 p.R1564W 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 284 0 0 213 43 16.7969 HMOX1 0 genome.wustl.edu 37 22 35783055 35783055 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 35783055 35783055 T A SNP HMOX1 ENST00000216117 human ensembl 74_37 +1 known missense c.522 p.S174R 0.346 pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 145 0 0 115 24 17.2662 APOL3 0 genome.wustl.edu 37 22 36541536 36541536 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 36541536 36541536 G A SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.335 p.A112V 0.000 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 98 0 0 65 23 26.1364 CSF2RB 0 genome.wustl.edu 37 22 37334294 37334294 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 37334294 37334294 T A SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.2462 p.V821D 0.997 pirsf_IL3_rcpt_beta 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 189 1 0.526316 144 48 25 KCNJ4 0 genome.wustl.edu 37 22 38823826 38823826 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 38823826 38823826 G A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.312 p.G104 0.066 pfam_K_chnl_inward-rec_Kir,pirsf_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_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 39 0 0 20 8 28.5714 CACNA1I 0 genome.wustl.edu 37 22 40066157 40066157 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 40066157 40066157 T C SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.4327 p.C1443R 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 173 0 0 128 43 25.1462 CACNA1I 0 genome.wustl.edu 37 22 40066850 40066850 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 40066850 40066850 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.4448 p.R1483Q 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 127 0 0 89 26 22.6087 FAM83F 0 genome.wustl.edu 37 22 40417465 40417465 + Silent SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 40417465 40417465 T G SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known silent c.951 p.T317 0.012 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 189 0 0 124 33 21.0191 TNRC6B 0 genome.wustl.edu 37 22 40661673 40661673 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 40661673 40661673 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.1439 p.T480M 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 50 0 0 29 14 32.5581 MKL1 0 genome.wustl.edu 37 22 40815358 40815358 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 40815358 40815358 G A SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known nonsense c.1084 p.R362* 1.000 pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 48 0 0 38 6 13.6364 XPNPEP3 0 genome.wustl.edu 37 22 41322429 41322429 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 41322429 41322429 A G SNP XPNPEP3 ENST00000357137 human ensembl 74_37 +1 known missense c.1514 p.Q505R 0.034 NULL pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 200 0 0 176 33 15.7895 ZC3H7B 0 genome.wustl.edu 37 22 41716681 41716681 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 41716681 41716681 G A SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.17 p.R6Q 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 161 0 0 112 21 15.7895 SMDT1 0 genome.wustl.edu 37 22 42475806 42475806 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 42475806 42475806 G T SNP SMDT1 ENST00000331479 human ensembl 74_37 +1 known missense c.34 p.A12S 0.011 NULL pfam_UPF0466 - no_errors SMDT1 HGNC ENSG00000183172 45 0 0 26 7 21.2121 ARHGAP8 0 genome.wustl.edu 37 22 45210627 45210627 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 45210627 45210627 G A SNP ARHGAP8 ENST00000447333 human ensembl 74_37 +1 known missense c.436 p.A146T 0.937 NULL superfamily_CRAL-TRIO_dom - no_errors ARHGAP8 HGNC ENSG00000241484 121 0 0 85 22 20.5607 PHF21B 0 genome.wustl.edu 37 22 45309814 45309814 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 45309814 45309814 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known missense c.719 p.T240M 0.232 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 121 0 0 84 13 13.4021 RIBC2 0 genome.wustl.edu 37 22 45818285 45818285 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 45818285 45818285 C T SNP RIBC2 ENST00000538017 human ensembl 74_37 +1 known silent c.657 p.S219 0.635 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC ENSG00000128408 237 0 0 173 50 22.4215 CELSR1 0 genome.wustl.edu 37 22 46765660 46765660 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 46765660 46765660 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.7801 p.D2601N 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 CELSR1 HGNC ENSG00000075275 65 0 0 57 5 8.06452 PANX2 0 genome.wustl.edu 37 22 50615711 50615711 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 50615711 50615711 C T SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known silent c.570 p.R190 0.806 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 23 0 0 15 9 37.5 ABI3BP 0 genome.wustl.edu 37 3 100469446 100469446 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 100469446 100469446 T C SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.3121 p.R1041G 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 207 0 0 135 48 26.2295 TRMT10C 0 genome.wustl.edu 37 3 101284698 101284698 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 101284698 101284698 G A SNP TRMT10C ENST00000309922 human ensembl 74_37 +1 known missense c.1073 p.R358H 1.000 pfam_tRNA_m1G_MeTrfase pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 89 0 0 72 29 28.7129 NXPE3 0 genome.wustl.edu 37 3 101535714 101535714 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 101535714 101535714 C T SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.998 p.P333L 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 208 0 0 183 45 19.7368 ATP2B2 0 genome.wustl.edu 37 3 10387766 10387766 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 10387766 10387766 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.2460 p.D820 0.912 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 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 33 0 0 27 13 32.5 MORC1 0 genome.wustl.edu 37 3 108776228 108776228 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 108776228 108776228 C T SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.1137 p.M379I 1.000 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 219 0 0 161 39 19.5 DPPA4 0 genome.wustl.edu 37 3 109049561 109049561 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 109049561 109049561 T C SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known silent c.489 p.T163 0.000 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 141 0 0 121 25 17.1233 DPPA4 0 genome.wustl.edu 37 3 109050783 109050783 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 109050783 109050783 T C SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.274 p.N92D 0.000 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 206 0 0 168 52 23.6364 PHLDB2 0 genome.wustl.edu 37 3 111693410 111693410 + Nonstop_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 111693410 111693410 G C SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known nonstop c.3762 p.*1254Y 0.541 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 141 0 0 97 40 29.1971 HRH1 0 genome.wustl.edu 37 3 11301400 11301400 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 11301400 11301400 T G SNP HRH1 ENST00000397056 human ensembl 74_37 +1 known missense c.677 p.L226R 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH1 HGNC ENSG00000196639 157 0 0 108 71 39.6648 ATG7 0 genome.wustl.edu 37 3 11382179 11382179 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 11382179 11382179 T C SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.950 p.V317A 1.000 tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 64 0 0 69 10 12.6582 ZBTB20 0 genome.wustl.edu 37 3 114057858 114057858 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 114057858 114057858 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.2220 p.D740 0.997 pfscan_Znf_C2H2 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 186 0 0 116 38 24.6753 ZBTB20 0 genome.wustl.edu 37 3 114070178 114070178 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 114070178 114070178 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.747 p.A249 0.669 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 99 0 0 83 17 17 POGLUT1 0 genome.wustl.edu 37 3 119198976 119198976 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 119198976 119198976 A G SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known missense c.535 p.T179A 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 204 1 0.487805 107 30 21.8978 TIMMDC1 0 genome.wustl.edu 37 3 119222428 119222428 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 119222428 119222428 G A SNP TIMMDC1 ENST00000494664 human ensembl 74_37 +1 known missense c.410 p.R137H 1.000 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 40 0 0 24 3 11.1111 POLQ 0 genome.wustl.edu 37 3 121158877 121158877 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 121158877 121158877 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.7351 p.P2451S 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 172 0 0 124 29 18.9542 CASR 0 genome.wustl.edu 37 3 121980496 121980496 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 121980496 121980496 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.614 p.R205H 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,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 234 0 0 187 70 27.2374 PDIA5 0 genome.wustl.edu 37 3 122864423 122864423 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 122864423 122864423 T G SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.965 p.L322R 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 66 0 0 55 6 9.83607 KALRN 0 genome.wustl.edu 37 3 123946846 123946846 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 123946846 123946846 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.77 p.R26Q 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 258 0 0 207 38 15.5102 HEG1 0 genome.wustl.edu 37 3 124709815 124709815 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 124709815 124709815 T C SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.3668 p.Y1223C 1.000 smart_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 10 0 0 7 2 22.2222 RAF1 0 genome.wustl.edu 37 3 12660191 12660191 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 12660191 12660191 C T SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known silent c.30 p.T10 0.975 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 RAF1 HGNC ENSG00000132155 89 0 0 75 22 22.6804 PLXNA1 0 genome.wustl.edu 37 3 126746844 126746844 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 126746844 126746844 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4424 p.G1475D 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 62 0 0 57 14 19.7183 LOC653712 0 genome.wustl.edu 37 3 128584202 128584202 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 128584202 128584202 G A SNP LOC653712 ENST00000480931 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-723O4.2 Clone_based_vega_gene ENSG00000231305 68 0 0 45 16 26.2295 COL6A5 0 genome.wustl.edu 37 3 130162359 130162359 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 130162359 130162359 C T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.6527 p.A2176V 0.008 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 105 0 0 73 23 23.9583 ASTE1 0 genome.wustl.edu 37 3 130743595 130743595 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 130743595 130743595 T C SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.556 p.I186V 0.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 167 0 0 131 35 21.0843 PRR23B 0 genome.wustl.edu 37 3 138739139 138739139 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 138739139 138739139 A G SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known missense c.365 p.L122P 0.001 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 75 0 0 51 12 19.0476 CHST2 0 genome.wustl.edu 37 3 142840602 142840602 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 142840602 142840602 C T SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.944 p.A315V 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 14 0 0 7 5 41.6667 GRIP2 0 genome.wustl.edu 37 3 14564529 14564529 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 14564529 14564529 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 123 0 0 99 19 16.1017 GRIP2 0 genome.wustl.edu 37 3 14564548 14564548 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 14564548 14564548 C T SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.433 - - - no_errors GRIP2 HGNC ENSG00000144596 129 0 0 76 49 39.2 C3orf20 0 genome.wustl.edu 37 3 14769959 14769959 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 14769959 14769959 T C SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known silent c.1704 p.I568 0.008 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 99 0 0 83 18 17.8218 FGD5 0 genome.wustl.edu 37 3 14863039 14863039 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 14863039 14863039 G A SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.2461 p.V821M 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 100 0 0 92 27 22.6891 SIAH2 0 genome.wustl.edu 37 3 150460061 150460061 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 150460061 150460061 C T SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.842 p.R281H 0.999 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 105 0 0 91 33 26.6129 GPR87 0 genome.wustl.edu 37 3 151012131 151012131 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 151012131 151012131 G A SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known silent c.903 p.F301 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 252 0 0 171 40 18.9573 LXN 0 genome.wustl.edu 37 3 158387236 158387236 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 158387236 158387236 G A SNP LXN ENST00000264265 human ensembl 74_37 -1 known missense c.356 p.A119V 1.000 pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin - no_errors LXN HGNC ENSG00000079257 148 0 0 78 31 28.4404 RFTN1 0 genome.wustl.edu 37 3 16419565 16419565 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 16419565 16419565 T C SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known missense c.486 p.I162M 0.168 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 51 0 0 52 24 31.5789 GHSR 0 genome.wustl.edu 37 3 172163150 172163150 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 172163150 172163150 C T SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.902 p.S301N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 149 0 0 128 34 20.9877 TBC1D5 0 genome.wustl.edu 37 3 17255739 17255739 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 17255739 17255739 C T SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.1712 p.R571H 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 117 0 0 96 48 33.3333 MCF2L2 0 genome.wustl.edu 37 3 182947567 182947567 + Silent SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 182947567 182947567 T A SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known silent c.1932 p.G644 0.356 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 203 0 0 160 36 18.3673 B3GNT5 0 genome.wustl.edu 37 3 182988259 182988259 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 182988259 182988259 C T SNP B3GNT5 ENST00000326505 human ensembl 74_37 +1 known missense c.673 p.R225C 0.818 pfam_Glyco_trans_31,superfamily_Luciferase-like_dom pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 307 0 0 216 66 23.4043 CLDN16 0 genome.wustl.edu 37 3 190127782 190127782 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 190127782 190127782 G A SNP CLDN16 ENST00000264734 human ensembl 74_37 +1 known missense c.875 p.R292H 0.725 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 150 0 0 95 37 28.0303 TMEM207 0 genome.wustl.edu 37 3 190158096 190158096 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 190158096 190158096 G A SNP TMEM207 ENST00000354905 human ensembl 74_37 -1 known nonsense c.241 p.R81* 0.000 NULL NULL - no_errors TMEM207 HGNC ENSG00000198398 65 0 0 38 10 20.8333 TMEM44 0 genome.wustl.edu 37 3 194344358 194344358 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 194344358 194344358 G A SNP TMEM44 ENST00000392432 human ensembl 74_37 -1 known missense c.425 p.P142L 0.962 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 53 0 0 28 11 28.2051 BDH1 0 genome.wustl.edu 37 3 197273282 197273282 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 197273282 197273282 T C SNP BDH1 ENST00000358186 human ensembl 74_37 -1 known silent c.33 p.S11 0.920 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 183 0 0 154 33 17.6471 RARB 0 genome.wustl.edu 37 3 25622169 25622169 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 25622169 25622169 G A SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.763 p.A255T 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 90 0 0 62 40 39.2157 STT3B 0 genome.wustl.edu 37 3 31621466 31621466 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 31621466 31621466 G A SNP STT3B ENST00000295770 human ensembl 74_37 +1 known missense c.589 p.A197T 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 334 0 0 271 65 19.3452 TRIM71 0 genome.wustl.edu 37 3 32932581 32932581 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 32932581 32932581 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.1885 p.R629C 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 44 0 0 19 24 55.814 GOLGA4 0 genome.wustl.edu 37 3 37367422 37367422 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 37367422 37367422 T A SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.4045 p.S1349T 0.022 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 65 0 0 32 33 50.7692 ITGA9 0 genome.wustl.edu 37 3 37523078 37523078 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 37523078 37523078 C T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.524 p.T175M 0.531 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 224 0 0 93 91 49.4565 SCN10A 0 genome.wustl.edu 37 3 38763811 38763811 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 38763811 38763811 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.3445 p.V1149M 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 138 0 0 67 65 49.2424 SCN11A 0 genome.wustl.edu 37 3 38892065 38892065 + Nonsense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 38892065 38892065 C A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known nonsense c.4234 p.E1412* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 292 0 0 211 61 22.4265 CCDC13 0 genome.wustl.edu 37 3 42794103 42794103 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 42794103 42794103 C T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known silent c.477 p.K159 1.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 116 0 0 49 46 48.4211 KIF15 0 genome.wustl.edu 37 3 44828026 44828026 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 44828026 44828026 C T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.599 p.A200V 0.996 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_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 KIF15 HGNC ENSG00000163808 118 0 0 51 47 47.9592 DHX30 0 genome.wustl.edu 37 3 47890175 47890175 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 47890175 47890175 C T SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known silent c.2637 p.T879 0.017 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 67 0 0 34 34 50 ITPR1 0 genome.wustl.edu 37 3 4810193 4810193 + Splice_Site SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 4810193 4810193 A T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known splice_site c.5681-2 e43-2 0.991 - - - no_errors ITPR1 HGNC ENSG00000150995 56 0 0 45 23 33.8235 CCDC51 0 genome.wustl.edu 37 3 48476334 48476334 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 48476334 48476334 G A SNP CCDC51 ENST00000395694 human ensembl 74_37 -1 known missense c.205 p.H69Y 0.144 NULL NULL - no_errors CCDC51 HGNC ENSG00000164051 130 0 0 58 55 48.6726 ATRIP 0 genome.wustl.edu 37 3 48506346 48506346 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 48506346 48506346 G A SNP ATRIP ENST00000320211 human ensembl 74_37 +1 known silent c.2172 p.V724 0.992 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 61 0 0 39 24 38.0952 COL7A1 0 genome.wustl.edu 37 3 48623373 48623373 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 48623373 48623373 C A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.3759 p.K1253N 1.000 pfam_Collagen 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 183 0 0 76 73 48.9933 IP6K2 0 genome.wustl.edu 37 3 48732686 48732686 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 48732686 48732686 G A SNP IP6K2 ENST00000328631 human ensembl 74_37 -1 known silent c.39 p.R13 0.006 NULL pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 97 0 0 40 33 45.2055 P4HTM 0 genome.wustl.edu 37 3 49042326 49042326 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 49042326 49042326 T G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.920 p.I307S 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 106 0 0 53 44 45.3608 DALRD3 0 genome.wustl.edu 37 3 49054740 49054740 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 49054740 49054740 A G SNP DALRD3 ENST00000341949 human ensembl 74_37 -1 known missense c.848 p.V283A 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 168 0 0 71 62 46.6165 USP19 0 genome.wustl.edu 37 3 49147938 49147938 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 49147938 49147938 A G SNP USP19 ENST00000398888 human ensembl 74_37 -1 known silent c.3489 p.G1163 0.007 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 120 1 0.826446 78 14 15.2174 USP19 0 genome.wustl.edu 37 3 49149374 49149374 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 49149374 49149374 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.2564 p.R855H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 72 0 0 38 15 28.3019 ACY1 0 genome.wustl.edu 37 3 52021432 52021432 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 52021432 52021432 G T SNP ACY1 ENST00000458031 human ensembl 74_37 +1 known missense c.1085 p.S362I 0.997 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 54 0 0 59 4 6.34921 STAB1 0 genome.wustl.edu 37 3 52551981 52551981 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 52551981 52551981 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.4723 p.V1575M 0.705 superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 90 0 0 53 33 38.3721 ITIH1 0 genome.wustl.edu 37 3 52824813 52824813 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 52824813 52824813 C T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known silent c.2370 p.D790 0.000 pfam_ITI_HC_C,superfamily_PsdUridine_synth_cat_dom pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 266 0 0 133 131 49.6212 CACNA1D 0 genome.wustl.edu 37 3 53694205 53694205 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 53694205 53694205 C T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known silent c.669 p.G223 0.998 pfam_Ion_trans_dom,prints_LVDCC_a1dsu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 109 0 0 77 13 14.4444 LRTM1 0 genome.wustl.edu 37 3 54952711 54952711 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 54952711 54952711 G A SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known silent c.813 p.C271 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 75 0 0 31 36 53.7313 ACOX2 0 genome.wustl.edu 37 3 58519212 58519212 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 58519212 58519212 G A SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known silent c.543 p.H181 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 176 0 0 153 34 18.1818 PTPRG 0 genome.wustl.edu 37 3 62258734 62258734 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 62258734 62258734 G A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.3296 p.R1099H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_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 PTPRG HGNC ENSG00000144724 102 0 0 71 15 17.4419 PSMD6 0 genome.wustl.edu 37 3 64004505 64004505 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 64004505 64004505 G T SNP PSMD6 ENST00000295901 human ensembl 74_37 -1 known missense c.706 p.L236I 1.000 pfam_26S_proteasome_reg_su-Rpn7 pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 165 0 0 127 33 20.625 MITF 0 genome.wustl.edu 37 3 69928397 69928397 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 69928397 69928397 C T SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.217 p.R73C 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 86 0 0 70 20 22.2222 FOXP1 0 genome.wustl.edu 37 3 71015109 71015109 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 71015109 71015109 G A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known silent c.1821 p.N607 0.955 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 346 0 0 303 81 21.0938 PDZRN3 0 genome.wustl.edu 37 3 73432878 73432878 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 73432878 73432878 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2839 p.A947T 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 56 0 0 40 12 23.0769 CNTN3 0 genome.wustl.edu 37 3 74474011 74474011 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 74474011 74474011 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.439 p.P147S 1.000 pfam_Ig_V-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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 46 0 0 40 7 14.8936 EPHA3 0 genome.wustl.edu 37 3 89499405 89499405 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 89499405 89499405 G A SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.2575 p.D859N 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_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 EPHA3 HGNC ENSG00000044524 110 0 0 83 19 18.6275 EPHA6 0 genome.wustl.edu 37 3 96706210 96706210 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 96706210 96706210 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.487 p.P163S 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom 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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 188 0 0 140 36 20.4545 BRPF1 0 genome.wustl.edu 37 3 9780731 9780731 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 9780731 9780731 C T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.648 p.D216 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 78 0 0 45 34 43.038 OR5H2 0 genome.wustl.edu 37 3 98002130 98002130 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 98002130 98002130 A G SNP OR5H2 ENST00000355273 human ensembl 74_37 +1 known silent c.399 p.K133 0.974 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H2 HGNC ENSG00000197938 206 0 0 178 37 17.2093 ADH5 0 genome.wustl.edu 37 4 100006300 100006300 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 100006300 100006300 A G SNP ADH5 ENST00000296412 human ensembl 74_37 -1 known missense c.80 p.V27A 1.000 superfamily_GroES-like,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 15 0 0 19 2 9.52381 DDIT4L 0 genome.wustl.edu 37 4 101109133 101109133 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 101109133 101109133 G A SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.283 p.L95F 0.999 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 207 0 0 202 30 12.931 MANBA 0 genome.wustl.edu 37 4 103555971 103555971 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 103555971 103555971 C T SNP MANBA ENST00000226578 human ensembl 74_37 -1 known missense c.2389 p.V797M 0.000 NULL pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 118 0 0 69 18 20.6897 LEF1 0 genome.wustl.edu 37 4 108969924 108969924 + RNA SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 108969924 108969924 T C SNP LEF1 ENST00000503879 human ensembl 74_37 -1 known rna NULL NULL 0.597 - - - no_errors LEF1 HGNC ENSG00000138795 71 0 0 64 12 15.7895 SEC24B 0 genome.wustl.edu 37 4 110451569 110451569 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 110451569 110451569 G T SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known silent c.3201 p.A1067 0.004 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_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 SEC24B HGNC ENSG00000138802 175 0 0 143 51 26.2887 CCDC109B 0 genome.wustl.edu 37 4 110605647 110605647 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 110605647 110605647 C A SNP CCDC109B ENST00000394650 human ensembl 74_37 +1 known missense c.661 p.L221M 0.975 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors CCDC109B HGNC ENSG00000005059 114 0 0 83 27 24.5455 LRIT3 0 genome.wustl.edu 37 4 110791250 110791250 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 110791250 110791250 A G SNP LRIT3 ENST00000594814 human ensembl 74_37 +1 known missense c.1345 p.K449E 0.968 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT3 HGNC ENSG00000183423 148 0 0 88 24 21.4286 NEUROG2 0 genome.wustl.edu 37 4 113436263 113436263 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 113436263 113436263 G A SNP NEUROG2 ENST00000313341 human ensembl 74_37 -1 known silent c.369 p.N123 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 81 0 0 59 17 22.3684 ARSJ 0 genome.wustl.edu 37 4 114823740 114823740 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 114823740 114823740 T C SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known missense c.1490 p.N497S 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 131 0 0 92 36 28.125 SYNPO2 0 genome.wustl.edu 37 4 119951141 119951141 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 119951141 119951141 C T SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.1211 p.A404V 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 224 0 0 150 59 28.2297 CTBP1-AS2 0 genome.wustl.edu 37 4 1244943 1244943 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 1244943 1244943 G A SNP CTBP1-AS2 ENST00000357591 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTBP1-AS2 HGNC ENSG00000196810 39 0 0 46 10 17.8571 ANKRD50 0 genome.wustl.edu 37 4 125592090 125592090 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 125592090 125592090 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.2342 p.G781D 0.997 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 214 0 0 176 41 18.894 FAT4 0 genome.wustl.edu 37 4 126372844 126372844 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 126372844 126372844 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10673 p.F3558S 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 347 0 0 241 59 19.6667 FAT4 0 genome.wustl.edu 37 4 126389930 126389930 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 126389930 126389930 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.12163 p.S4055A 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 248 0 0 155 55 26.1905 MAEA 0 genome.wustl.edu 37 4 1305821 1305821 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 1305821 1305821 C T SNP MAEA ENST00000303400 human ensembl 74_37 +1 known missense c.124 p.R42W 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC ENSG00000090316 50 0 0 33 15 31.25 PCDH10 0 genome.wustl.edu 37 4 134072704 134072704 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 134072704 134072704 T C SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1409 p.V470A 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 182 1 0.546448 144 31 17.7143 BOD1L1 0 genome.wustl.edu 37 4 13601693 13601693 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 13601693 13601693 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.6831 p.G2277 0.001 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 24 0 0 28 11 28.2051 ELMOD2 0 genome.wustl.edu 37 4 141446595 141446595 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 141446595 141446595 T G SNP ELMOD2 ENST00000323570 human ensembl 74_37 +1 known missense c.13 p.L5V 0.990 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ENSG00000179387 287 0 0 188 63 25.0996 INPP4B 0 genome.wustl.edu 37 4 143067054 143067054 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 143067054 143067054 G A SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known silent c.1659 p.G553 0.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 283 1 0.352113 196 63 24.3243 POU4F2 0 genome.wustl.edu 37 4 147561385 147561385 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 147561385 147561385 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.655 p.A219T 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 - no_errors POU4F2 HGNC ENSG00000151615 15 0 0 8 5 38.4615 LRBA 0 genome.wustl.edu 37 4 151749498 151749498 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 151749498 151749498 A G SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.5005 p.S1669P 0.974 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 232 0 0 170 50 22.7273 PET112 0 genome.wustl.edu 37 4 152637228 152637228 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 152637228 152637228 C T SNP PET112 ENST00000263985 human ensembl 74_37 -1 known silent c.696 p.A232 0.789 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 72 0 0 49 15 23.4375 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,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 FBXW7 HGNC ENSG00000109670 402 0 0 295 67 18.5083 C1QTNF7 0 genome.wustl.edu 37 4 15437526 15437526 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 15437526 15437526 G A SNP C1QTNF7 ENST00000429690 human ensembl 74_37 +1 known silent c.159 p.G53 0.958 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 78 0 0 44 17 27.8689 DCHS2 0 genome.wustl.edu 37 4 155163925 155163925 + Splice_Site SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 155163925 155163925 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known splice_site c.5577-1 e22-1 1.000 - - - no_errors DCHS2 HGNC ENSG00000197410 124 0 0 91 19 17.2727 GRIA2 0 genome.wustl.edu 37 4 158284167 158284167 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 158284167 158284167 G A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2623 p.V875I 1.000 NULL 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 274 1 0.363636 214 63 22.7437 FNIP2 0 genome.wustl.edu 37 4 159782803 159782803 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 159782803 159782803 C T SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.1409 p.A470V 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 210 0 0 131 49 27.2222 TMA16 0 genome.wustl.edu 37 4 164428219 164428219 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 164428219 164428219 A G SNP TMA16 ENST00000358572 human ensembl 74_37 +1 known missense c.38 p.E13G 1.000 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 14 0 0 7 4 36.3636 GLRA3 0 genome.wustl.edu 37 4 175580334 175580334 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 175580334 175580334 T G SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known missense c.942 p.K314N 1.000 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_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 121 0 0 88 29 24.7863 LCORL 0 genome.wustl.edu 37 4 17963635 17963635 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 17963635 17963635 A T SNP LCORL ENST00000382226 human ensembl 74_37 -1 known missense c.321 p.D107E 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC ENSG00000178177 89 0 0 70 21 23.0769 RWDD4 0 genome.wustl.edu 37 4 184577096 184577096 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 184577096 184577096 G A SNP RWDD4 ENST00000326397 human ensembl 74_37 -1 known missense c.43 p.R15C 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD4 HGNC ENSG00000182552 211 0 0 160 45 21.9512 ACSL1 0 genome.wustl.edu 37 4 185689450 185689450 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 185689450 185689450 C A SNP ACSL1 ENST00000504900 human ensembl 74_37 -1 putative missense c.1148 p.S383I 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ENSG00000151726 145 0 0 96 42 30.4348 FAM149A 0 genome.wustl.edu 37 4 187077204 187077204 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 187077204 187077204 G A SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known missense c.1307 p.R436H 0.000 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 98 0 0 63 28 30.7692 ZFP42 0 genome.wustl.edu 37 4 188924074 188924074 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 188924074 188924074 C T SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.113 p.A38V 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 132 0 0 88 24 21.4286 WHSC1 0 genome.wustl.edu 37 4 1980497 1980497 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 1980497 1980497 G A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.3959 p.R1320Q 0.048 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 85 0 0 54 11 16.9231 DHX15 0 genome.wustl.edu 37 4 24572442 24572442 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 24572442 24572442 C T SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.536 p.R179Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 98 0 0 90 34 27.4194 DHX15 0 genome.wustl.edu 37 4 24578185 24578185 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 24578185 24578185 G A SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.188 p.A63V 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 137 0 0 111 38 25.5034 SEL1L3 0 genome.wustl.edu 37 4 25849480 25849480 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 25849480 25849480 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.169 p.V57I 0.855 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 42 0 0 34 8 19.0476 CCKAR 0 genome.wustl.edu 37 4 26487494 26487494 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 26487494 26487494 T C SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known missense c.391 p.N131D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 58 0 0 39 4 9.30233 PCDH7 0 genome.wustl.edu 37 4 30724650 30724650 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 30724650 30724650 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1606 p.G536S 0.942 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 75 0 0 53 21 28.3784 RGS12 0 genome.wustl.edu 37 4 3424203 3424203 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 3424203 3424203 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.2939 p.A980V 0.690 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd 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 42 0 0 26 9 25.7143 TLR6 0 genome.wustl.edu 37 4 38830759 38830759 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 38830759 38830759 C T SNP TLR6 ENST00000381950 human ensembl 74_37 -1 known silent c.336 p.L112 0.002 pirsf_Toll-like_receptor,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR6 HGNC ENSG00000174130 124 0 0 101 34 25.1852 KCTD8 0 genome.wustl.edu 37 4 44177000 44177000 + Missense_Mutation SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 44177000 44177000 C G SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.1229 p.S410T 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 514 0 0 391 99 20.2041 ATP10D 0 genome.wustl.edu 37 4 47559796 47559796 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 47559796 47559796 A C SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.1940 p.E647A 0.821 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 148 0 0 114 35 23.4899 STK32B 0 genome.wustl.edu 37 4 5458560 5458560 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 5458560 5458560 G A SNP STK32B ENST00000282908 human ensembl 74_37 +1 known silent c.693 p.T231 0.227 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 STK32B HGNC ENSG00000152953 42 0 0 28 14 33.3333 PDGFRA 0 genome.wustl.edu 37 4 55146618 55146618 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 55146618 55146618 T C SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known silent c.2292 p.R764 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 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 87 0 0 81 22 21.3592 EVC2 0 genome.wustl.edu 37 4 5620258 5620258 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 5620258 5620258 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known nonsense c.2653 p.R885* 0.990 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 66 0 0 34 10 22.7273 EVC2 0 genome.wustl.edu 37 4 5624349 5624349 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 5624349 5624349 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2416 p.V806M 0.166 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 45 0 0 33 10 23.2558 MAN2B2 0 genome.wustl.edu 37 4 6610856 6610856 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 6610856 6610856 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.1837 p.V613M 0.008 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,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 MAN2B2 HGNC ENSG00000013288 68 0 0 52 11 17.4603 TMPRSS11B 0 genome.wustl.edu 37 4 69095169 69095169 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 69095169 69095169 C T SNP TMPRSS11B ENST00000332644 human ensembl 74_37 -1 known missense c.752 p.R251Q 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11B HGNC ENSG00000185873 131 0 0 126 29 18.7097 CSN3 0 genome.wustl.edu 37 4 71114945 71114945 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 71114945 71114945 T C SNP CSN3 ENST00000304954 human ensembl 74_37 +1 known silent c.318 p.T106 0.000 pfam_Casein_kappa,pirsf_Casein_kappa pfam_Casein_kappa,pirsf_Casein_kappa - no_errors CSN3 HGNC ENSG00000171209 104 0 0 87 23 20.9091 CABS1 0 genome.wustl.edu 37 4 71201895 71201895 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 71201895 71201895 C T SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.1139 p.T380M 0.239 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 153 0 0 126 36 22.2222 RUFY3 0 genome.wustl.edu 37 4 71672462 71672462 + RNA SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 71672462 71672462 T A SNP RUFY3 ENST00000507333 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RUFY3 HGNC ENSG00000018189 73 0 0 71 16 18.3908 GC 0 genome.wustl.edu 37 4 72618297 72618297 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 72618297 72618297 G A SNP GC ENST00000273951 human ensembl 74_37 -1 known missense c.1333 p.H445Y 0.001 pfam_VitD-bind_III,superfamily_Serum_albumin-like,prints_VitD-bd,prints_ALB/AFP/VDB pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 178 0 0 113 38 25.1656 USO1 0 genome.wustl.edu 37 4 76695833 76695833 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 76695833 76695833 T C SNP USO1 ENST00000538159 human ensembl 74_37 +1 known missense c.566 p.V189A 1.000 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 89 0 0 76 13 14.6067 PPEF2 0 genome.wustl.edu 37 4 76793201 76793201 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 76793201 76793201 G A SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known silent c.1626 p.T542 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain 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 217 0 0 124 30 19.4805 ABLIM2 0 genome.wustl.edu 37 4 8108356 8108356 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 8108356 8108356 G A SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known missense c.19 p.P7S 0.992 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 22 0 0 16 5 23.8095 RASGEF1B 0 genome.wustl.edu 37 4 82377783 82377783 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 82377783 82377783 G A SNP RASGEF1B ENST00000436139 human ensembl 74_37 -1 putative missense c.460 p.R154W 0.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 104 0 0 83 30 26.5487 SEC31A 0 genome.wustl.edu 37 4 83785682 83785682 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 83785682 83785682 G A SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known nonsense c.1267 p.Q423* 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 92 0 0 88 11 11.1111 THAP9 0 genome.wustl.edu 37 4 83838784 83838784 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 83838784 83838784 G A SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known silent c.1419 p.L473 0.923 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 349 0 0 265 92 25.7703 WDFY3 0 genome.wustl.edu 37 4 85617311 85617311 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 85617311 85617311 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.8713 p.A2905T 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 215 0 0 144 43 22.9947 PTPN13 0 genome.wustl.edu 37 4 87696414 87696414 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 87696414 87696414 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.5614 p.R1872* 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,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 92 0 0 43 17 28.3333 DMP1 0 genome.wustl.edu 37 4 88584427 88584427 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 88584427 88584427 A C SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known missense c.1497 p.K499N 0.995 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 253 1 0.393701 187 61 24.5968 SMARCAD1 0 genome.wustl.edu 37 4 95198191 95198191 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 95198191 95198191 C T SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.1963 p.L655F 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 209 0 0 176 50 22.1239 PDHA2 0 genome.wustl.edu 37 4 96761471 96761471 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 96761471 96761471 C T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.170 p.A57V 1.000 NULL pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 79 0 0 59 14 19.1781 ST8SIA4 0 genome.wustl.edu 37 5 100222206 100222206 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 100222206 100222206 C T SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.344 p.R115H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 226 1 0.440529 139 34 19.6532 GIN1 0 genome.wustl.edu 37 5 102444277 102444277 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 102444277 102444277 G A SNP GIN1 ENST00000399004 human ensembl 74_37 -1 known silent c.135 p.F45 1.000 NULL pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 132 0 0 97 26 21.1382 FER 0 genome.wustl.edu 37 5 108380463 108380463 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 108380463 108380463 A G SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.1796 p.Q599R 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 211 0 0 182 40 18.018 PJA2 0 genome.wustl.edu 37 5 108672997 108672997 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 108672997 108672997 C A SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known missense c.2062 p.A688S 0.323 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 133 0 0 70 25 26.3158 DCP2 0 genome.wustl.edu 37 5 112328441 112328441 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 112328441 112328441 G A SNP DCP2 ENST00000389063 human ensembl 74_37 +1 known missense c.406 p.A136T 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors DCP2 HGNC ENSG00000172795 108 0 0 92 19 17.1171 CTNND2 0 genome.wustl.edu 37 5 11346489 11346489 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 11346489 11346489 A T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1623 p.D541E 0.992 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 148 0 0 99 17 14.6552 SEMA6A 0 genome.wustl.edu 37 5 115840539 115840539 + Splice_Site SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 115840539 115840539 A G SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known splice_site c.100+2 e1+2 1.000 - - - no_errors SEMA6A HGNC ENSG00000092421 22 0 0 15 5 25 SNCAIP 0 genome.wustl.edu 37 5 121780285 121780285 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 121780285 121780285 A G SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.1591 p.T531A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 171 0 0 135 30 18.1818 MEGF10 0 genome.wustl.edu 37 5 126769111 126769111 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 126769111 126769111 C T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.1750 p.P584S 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 198 0 0 113 33 22.6027 RAPGEF6 0 genome.wustl.edu 37 5 130840422 130840422 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 130840422 130840422 T C SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.1151 p.E384G 1.000 superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 138 0 0 114 37 24.5033 CDKL3 0 genome.wustl.edu 37 5 133695646 133695646 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 133695646 133695646 C T SNP CDKL3 ENST00000265334 human ensembl 74_37 -1 known missense c.302 p.R101Q 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 CDKL3 HGNC ENSG00000006837 27 0 0 16 3 15.7895 SPOCK1 0 genome.wustl.edu 37 5 136834163 136834163 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 136834163 136834163 C T SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.85 p.G29R 0.398 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 9 0 0 8 8 50 FAM53C 0 genome.wustl.edu 37 5 137682483 137682483 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 137682483 137682483 C A SNP FAM53C ENST00000239906 human ensembl 74_37 +1 known silent c.1014 p.P338 1.000 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 80 0 0 70 23 24.7312 MATR3 0 genome.wustl.edu 37 5 138643309 138643309 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 138643309 138643309 G A SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known missense c.205 p.A69T 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 233 0 0 156 61 28.1106 NRG2 0 genome.wustl.edu 37 5 139235336 139235336 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 139235336 139235336 A G SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known missense c.1223 p.V408A 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 137 1 0.724638 111 23 17.1642 PCDHA1 0 genome.wustl.edu 37 5 140167303 140167303 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140167303 140167303 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.1428 p.T476 0.849 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 128 0 0 88 30 25.4237 PCDHA1 0 genome.wustl.edu 37 5 140167617 140167617 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140167617 140167617 T C SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1742 p.V581A 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 137 0 0 94 19 16.8142 PCDHA2 0 genome.wustl.edu 37 5 140175140 140175140 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140175140 140175140 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.591 p.G197 0.000 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 PCDHA2 HGNC ENSG00000204969 179 1 0.555556 139 35 20.1149 PCDHA2 0 genome.wustl.edu 37 5 140175673 140175673 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140175673 140175673 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.1124 p.S375L 0.008 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 PCDHA2 HGNC ENSG00000204969 155 0 0 110 32 22.5352 PCDHA4 0 genome.wustl.edu 37 5 140188759 140188759 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140188759 140188759 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1987 p.A663T 0.989 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 PCDHA4 HGNC ENSG00000204967 95 0 0 71 22 23.6559 PCDHA5 0 genome.wustl.edu 37 5 140203164 140203164 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140203164 140203164 T C SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1804 p.Y602H 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 68 0 0 61 21 25.6098 PCDHA6 0 genome.wustl.edu 37 5 140209139 140209139 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140209139 140209139 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1463 p.A488V 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 PCDHA6 HGNC ENSG00000081842 95 0 0 70 18 20.4545 PCDHA9 0 genome.wustl.edu 37 5 140229360 140229360 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140229360 140229360 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1280 p.A427V 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 155 0 0 101 32 24.0602 PCDHA11 0 genome.wustl.edu 37 5 140250297 140250297 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140250297 140250297 C A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1609 p.R537S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 112 0 0 92 31 25.2033 PCDHA13 0 genome.wustl.edu 37 5 140263587 140263587 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140263587 140263587 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1734 p.S578 0.648 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 75 0 0 76 24 24 PCDHAC2 0 genome.wustl.edu 37 5 140347691 140347691 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140347691 140347691 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1340 p.P447L 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 PCDHAC2 HGNC ENSG00000243232 224 0 0 156 58 27.1028 PCDHB6 0 genome.wustl.edu 37 5 140532163 140532163 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140532163 140532163 G T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.2325 p.Q775H 0.036 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 142 0 0 113 26 18.705 PCDHB8 0 genome.wustl.edu 37 5 140559277 140559277 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140559277 140559277 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1662 p.D554 0.988 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 PCDHB8 HGNC ENSG00000120322 85 0 0 71 15 17.4419 PCDHB16 0 genome.wustl.edu 37 5 140563395 140563395 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140563395 140563395 C A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1261 p.L421I 0.982 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 PCDHB16 HGNC ENSG00000196963 124 0 0 95 30 24 PCDHGA1 0 genome.wustl.edu 37 5 140712379 140712379 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140712379 140712379 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.2128 p.V710M 0.234 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 99 0 0 79 15 15.9574 PCDHGA2 0 genome.wustl.edu 37 5 140720690 140720690 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140720690 140720690 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.2152 p.R718C 0.713 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 116 0 0 84 30 26.3158 PCDHGA3 0 genome.wustl.edu 37 5 140725511 140725511 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140725511 140725511 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.1911 p.A637 0.000 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 PCDHGA3 HGNC ENSG00000254245 81 0 0 54 11 16.9231 PCDHGB2 0 genome.wustl.edu 37 5 140739781 140739781 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140739781 140739781 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.79 p.G27R 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 29 0 0 18 5 21.7391 PCDHGB4 0 genome.wustl.edu 37 5 140769353 140769353 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140769353 140769353 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.1902 p.D634 0.954 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 PCDHGB4 HGNC ENSG00000253953 57 0 0 30 12 28.5714 PCDHGA10 0 genome.wustl.edu 37 5 140795052 140795052 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140795052 140795052 T A SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.2310 p.S770R 0.996 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 135 0 0 113 28 19.8582 PCDHGA11 0 genome.wustl.edu 37 5 140801469 140801469 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140801469 140801469 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.675 p.G225 0.005 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 116 0 0 106 29 21.4815 RNF14 0 genome.wustl.edu 37 5 141358224 141358224 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 141358224 141358224 T C SNP RNF14 ENST00000347642 human ensembl 74_37 +1 known silent c.663 p.S221 0.920 pfscan_Znf_RING pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 204 1 0.487805 160 54 25.2336 DPYSL3 0 genome.wustl.edu 37 5 146788339 146788339 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 146788339 146788339 T C SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known silent c.642 p.E214 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 DPYSL3 HGNC ENSG00000113657 127 0 0 93 31 25 ABLIM3 0 genome.wustl.edu 37 5 148619446 148619446 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 148619446 148619446 G A SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known missense c.1199 p.R400H 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 152 1 0.653595 110 43 28.1046 AFAP1L1 0 genome.wustl.edu 37 5 148687114 148687114 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 148687114 148687114 C T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.685 p.R229W 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 76 0 0 56 13 18.8406 CSF1R 0 genome.wustl.edu 37 5 149447811 149447811 + Silent SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 149447811 149447811 C G SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.1593 p.L531 0.991 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,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 CSF1R HGNC ENSG00000182578 88 0 0 65 14 17.7215 RPS14 0 genome.wustl.edu 37 5 149826384 149826384 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 149826384 149826384 G A SNP RPS14 ENST00000312037 human ensembl 74_37 -1 known missense c.292 p.R98W 1.000 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 - no_errors RPS14 HGNC ENSG00000164587 140 0 0 85 17 16.6667 NDST1 0 genome.wustl.edu 37 5 149927860 149927860 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 149927860 149927860 G A SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.2226 p.S742 0.002 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 73 0 0 61 15 19.7368 ZNF300P1 0 genome.wustl.edu 37 5 150310667 150310667 + RNA SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 150310667 150310667 T G SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF300P1 HGNC ENSG00000197083 33 0 0 25 4 13.7931 ANXA6 0 genome.wustl.edu 37 5 150505975 150505975 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 150505975 150505975 C A SNP ANXA6 ENST00000354546 human ensembl 74_37 -1 known silent c.1044 p.V348 1.000 prints_AnnexinVI pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 28 0 0 15 3 16.6667 GALNT10 0 genome.wustl.edu 37 5 153674465 153674465 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 153674465 153674465 C T SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known silent c.249 p.D83 0.005 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 86 0 0 48 10 17.2414 MYO10 0 genome.wustl.edu 37 5 16694613 16694613 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 16694613 16694613 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.3667 p.G1223R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 136 1 0.729927 80 25 23.8095 RARS 0 genome.wustl.edu 37 5 167915644 167915644 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 167915644 167915644 G A SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.83 p.R28Q 0.565 NULL pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 137 0 0 93 40 30.0752 SLIT3 0 genome.wustl.edu 37 5 168093623 168093623 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 168093623 168093623 C A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.4408 p.A1470S 0.978 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 83 0 0 60 21 25.9259 DOCK2 0 genome.wustl.edu 37 5 169496192 169496192 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 169496192 169496192 C A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4696 p.L1566M 1.000 pfam_DOCK_C,superfamily_Cyt_c-like_dom 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 49 0 0 37 7 15.9091 FAF2 0 genome.wustl.edu 37 5 175933771 175933771 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 175933771 175933771 A G SNP FAF2 ENST00000261942 human ensembl 74_37 +1 known silent c.1158 p.V386 0.762 pfam_UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 507 0 0 324 88 21.3592 CDHR2 0 genome.wustl.edu 37 5 176003174 176003174 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 176003174 176003174 C T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known silent c.1182 p.Y394 0.777 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 65 0 0 49 14 22.2222 FGFR4 0 genome.wustl.edu 37 5 176517487 176517487 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 176517487 176517487 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.188 p.G63D 0.998 pirsf_FGF_rcpt_fam,smart_Ig_sub,smart_Ig_sub2 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 FGFR4 HGNC ENSG00000160867 90 0 0 74 12 13.9535 MXD3 0 genome.wustl.edu 37 5 176734722 176734722 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 176734722 176734722 C T SNP MXD3 ENST00000423571 human ensembl 74_37 -1 putative missense c.565 p.G189R 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD3 HGNC ENSG00000213347 48 0 0 30 5 14.2857 LMAN2 0 genome.wustl.edu 37 5 176761333 176761333 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 176761333 176761333 C T SNP LMAN2 ENST00000303127 human ensembl 74_37 -1 known missense c.862 p.D288N 1.000 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2 HGNC ENSG00000169223 68 0 0 49 19 27.9412 FAM153C 0 genome.wustl.edu 37 5 177473894 177473894 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 177473894 177473894 G A SNP FAM153C ENST00000507848 human ensembl 74_37 +1 known missense c.295 p.A99T 0.000 prints_FAM153 prints_FAM153 - no_errors FAM153C HGNC ENSG00000204677 111 0 0 119 33 21.7105 GRM6 0 genome.wustl.edu 37 5 178413540 178413540 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 178413540 178413540 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.1715 p.R572H 0.997 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 21 0 0 30 7 18.9189 GRM6 0 genome.wustl.edu 37 5 178413854 178413854 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 178413854 178413854 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1485 p.E495 0.888 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 40 0 0 24 12 33.3333 GFPT2 0 genome.wustl.edu 37 5 179743769 179743769 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 179743769 179743769 C T SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known missense c.1147 p.V383M 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 61 0 0 33 13 28.2609 FLT4 0 genome.wustl.edu 37 5 180053236 180053236 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 180053236 180053236 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1133 p.R378H 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-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 107 0 0 108 11 9.2437 TRIM52 0 genome.wustl.edu 37 5 180687440 180687440 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 180687440 180687440 T C SNP TRIM52 ENST00000327767 human ensembl 74_37 -1 known silent c.375 p.E125 0.362 smart_Znf_RING 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 TRIM52 HGNC ENSG00000183718 333 0 0 250 63 20.1278 CDH18 0 genome.wustl.edu 37 5 19838877 19838877 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 19838877 19838877 A G SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known silent c.219 p.Y73 1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 99 0 0 74 22 22.9167 DROSHA 0 genome.wustl.edu 37 5 31449476 31449476 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 31449476 31449476 A G SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known silent c.2733 p.D911 1.000 superfamily_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 36 0 0 27 8 22.8571 NPR3 0 genome.wustl.edu 37 5 32712294 32712294 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 32712294 32712294 T C SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.412 p.Y138H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 107 0 0 83 19 18.6275 RAI14 0 genome.wustl.edu 37 5 34823324 34823324 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 34823324 34823324 C T SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known silent c.1386 p.L462 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 142 0 0 88 24 21.4286 SPEF2 0 genome.wustl.edu 37 5 35691158 35691158 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 35691158 35691158 C T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.1544 p.A515V 0.292 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 139 0 0 109 26 19.2593 IRX1 0 genome.wustl.edu 37 5 3599722 3599722 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 3599722 3599722 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.660 p.D220 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 43 0 0 45 10 18.1818 NIPBL 0 genome.wustl.edu 37 5 37017251 37017251 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 37017251 37017251 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.4907 p.R1636H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 64 0 0 68 8 10.5263 GDNF 0 genome.wustl.edu 37 5 37815784 37815784 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 37815784 37815784 T G SNP GDNF ENST00000326524 human ensembl 74_37 -1 known missense c.605 p.K202T 1.000 pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF - no_errors GDNF HGNC ENSG00000168621 186 0 0 130 27 17.1975 RICTOR 0 genome.wustl.edu 37 5 38947433 38947433 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 38947433 38947433 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.4319 p.A1440V 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 211 0 0 162 47 22.488 CARD6 0 genome.wustl.edu 37 5 40852450 40852450 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 40852450 40852450 C T SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known missense c.1016 p.T339I 0.965 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 75 0 0 58 20 25.641 OXCT1 0 genome.wustl.edu 37 5 41862805 41862805 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 41862805 41862805 A G SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known silent c.126 p.F42 1.000 pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 128 0 0 87 24 21.6216 ZNF131 0 genome.wustl.edu 37 5 43161497 43161497 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 43161497 43161497 C T SNP ZNF131 ENST00000399534 human ensembl 74_37 +1 known missense c.518 p.A173V 0.994 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 165 0 0 119 27 18.4932 ITGA1 0 genome.wustl.edu 37 5 52177731 52177731 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 52177731 52177731 C T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.651 p.N217 0.233 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 148 0 0 111 17 13.2812 MCCC2 0 genome.wustl.edu 37 5 70942086 70942086 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 70942086 70942086 T C SNP MCCC2 ENST00000340941 human ensembl 74_37 +1 known missense c.1198 p.F400L 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 129 0 0 83 24 22.4299 MRPS27 0 genome.wustl.edu 37 5 71533950 71533950 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 71533950 71533950 C T SNP MRPS27 ENST00000513900 human ensembl 74_37 -1 known missense c.329 p.R110Q 1.000 pfam_Ribosomal_S27_mit pfam_Ribosomal_S27_mit - no_errors MRPS27 HGNC ENSG00000113048 168 0 0 79 40 33.6134 ZNF366 0 genome.wustl.edu 37 5 71739855 71739855 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 71739855 71739855 C T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.1963 p.A655T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 338 0 0 242 70 22.4359 VCAN 0 genome.wustl.edu 37 5 82815203 82815203 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 82815203 82815203 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.1078 p.A360T 0.996 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 259 0 0 200 65 24.5283 COX7C 0 genome.wustl.edu 37 5 85913901 85913901 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 85913901 85913901 C T SNP COX7C ENST00000247655 human ensembl 74_37 +1 known missense c.29 p.T10I 0.994 pfam_COX7C/Cox8 pfam_COX7C/Cox8,superfamily_COX7C/Cox8 - no_errors COX7C HGNC ENSG00000127184 46 0 0 26 7 21.2121 SEMA5A 0 genome.wustl.edu 37 5 9044506 9044506 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 9044506 9044506 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.3084 p.Y1028 0.048 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 231 0 0 177 45 20.2703 SEMA5A 0 genome.wustl.edu 37 5 9108327 9108327 + Silent SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 9108327 9108327 T G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.1998 p.T666 0.294 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 77 0 0 51 8 13.5593 PCSK1 0 genome.wustl.edu 37 5 95748029 95748029 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 95748029 95748029 A G SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.875 p.V292A 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 156 0 0 92 24 20.6897 LNPEP 0 genome.wustl.edu 37 5 96363452 96363452 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 96363452 96363452 C A SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known silent c.2880 p.S960 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 169 1 0.588235 121 22 15.3846 SIM1 0 genome.wustl.edu 37 6 100838779 100838779 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 100838779 100838779 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.1759 p.A587T 0.843 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 182 0 0 130 45 25.7143 ASCC3 0 genome.wustl.edu 37 6 101037604 101037604 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 101037604 101037604 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.5456 p.A1819V 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 243 0 0 172 39 18.4834 ASCC3 0 genome.wustl.edu 37 6 101315870 101315870 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 101315870 101315870 C A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.4 p.A2S 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 79 0 0 54 11 16.9231 BEND3 0 genome.wustl.edu 37 6 107390422 107390422 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 107390422 107390422 C T SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.1973 p.R658H 1.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 86 0 0 56 20 26.3158 SOBP 0 genome.wustl.edu 37 6 107908293 107908293 + Nonsense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 107908293 107908293 G T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known nonsense c.583 p.E195* 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 351 0 0 291 69 19.1667 SLC16A10 0 genome.wustl.edu 37 6 111498462 111498462 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 111498462 111498462 G T SNP SLC16A10 ENST00000368851 human ensembl 74_37 +1 known missense c.536 p.G179V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 176 0 0 138 39 22.0339 NEDD9 0 genome.wustl.edu 37 6 11191366 11191366 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 11191366 11191366 G A SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.736 p.P246S 1.000 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 103 0 0 65 22 25.2874 DSE 0 genome.wustl.edu 37 6 116580017 116580017 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 116580017 116580017 T C SNP DSE ENST00000540275 human ensembl 74_37 +1 known silent c.411 p.H137 1.000 NULL NULL - no_errors DSE HGNC ENSG00000111817 52 0 0 52 6 10.3448 ROS1 0 genome.wustl.edu 37 6 117706978 117706978 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 117706978 117706978 G A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known silent c.2172 p.G724 0.038 smart_LDLR_classB_rpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 176 0 0 159 11 6.47059 DCBLD1 0 genome.wustl.edu 37 6 117860470 117860470 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 117860470 117860470 T C SNP DCBLD1 ENST00000338728 human ensembl 74_37 +1 known silent c.1029 p.S343 0.994 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 175 1 0.568182 139 34 19.6532 TBC1D32 0 genome.wustl.edu 37 6 121412168 121412168 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 121412168 121412168 G A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.3608 p.T1203I 1.000 superfamily_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 208 0 0 155 30 16.2162 HSF2 0 genome.wustl.edu 37 6 122743435 122743435 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 122743435 122743435 T C SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known silent c.822 p.D274 0.995 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 329 0 0 250 67 21.1356 PTPRK 0 genome.wustl.edu 37 6 128297891 128297891 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 128297891 128297891 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known nonsense c.3931 p.R1311* 0.973 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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 PTPRK HGNC ENSG00000152894 102 0 0 57 21 26.9231 MED23 0 genome.wustl.edu 37 6 131914253 131914253 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 131914253 131914253 A T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3309 p.F1103L 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 85 0 0 73 19 20.6522 GFOD1 0 genome.wustl.edu 37 6 13365145 13365145 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 13365145 13365145 C T SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.1003 p.A335T 1.000 NULL pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 66 0 0 39 13 25 BCLAF1 0 genome.wustl.edu 37 6 136590726 136590726 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 136590726 136590726 A G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.2068 p.S690P 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 143 0 0 142 9 5.96026 KIAA1244 0 genome.wustl.edu 37 6 138601240 138601240 + Silent SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 138601240 138601240 A C SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.2400 p.G800 0.122 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 70 0 0 41 15 26.7857 KIAA1244 0 genome.wustl.edu 37 6 138632618 138632618 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 138632618 138632618 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.4171 p.A1391T 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 15 0 0 12 3 20 SASH1 0 genome.wustl.edu 37 6 148865429 148865429 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 148865429 148865429 C T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.2823 p.H941 0.000 NULL 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 SASH1 HGNC ENSG00000111961 120 1 0.826446 95 21 18.1034 UST 0 genome.wustl.edu 37 6 149342593 149342593 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 149342593 149342593 G A SNP UST ENST00000367463 human ensembl 74_37 +1 known missense c.913 p.V305M 1.000 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 195 0 0 123 44 26.3473 CCDC170 0 genome.wustl.edu 37 6 151869460 151869460 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 151869460 151869460 A G SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.610 p.N204D 0.974 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 54 0 0 53 10 15.873 JARID2 0 genome.wustl.edu 37 6 15496493 15496493 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 15496493 15496493 C A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1037 p.A346D 1.000 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 123 0 0 84 22 20.7547 NOX3 0 genome.wustl.edu 37 6 155776222 155776222 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 155776222 155776222 C T SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.90 p.T30 0.134 NULL pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 83 0 0 62 14 18.4211 ARID1B 0 genome.wustl.edu 37 6 157522175 157522175 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 157522175 157522175 G T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.4567 p.G1523C 0.999 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 ARID1B HGNC ENSG00000049618 90 0 0 54 21 28 ZDHHC14 0 genome.wustl.edu 37 6 157803268 157803268 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 157803268 157803268 T G SNP ZDHHC14 ENST00000359775 human ensembl 74_37 +1 known missense c.215 p.L72R 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 60 0 0 60 11 15.493 LPA 0 genome.wustl.edu 37 6 161014990 161014990 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 161014990 161014990 C T SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.3629 p.G1210D 0.936 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 157 0 0 109 27 19.8529 PLG 0 genome.wustl.edu 37 6 161134156 161134156 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 161134156 161134156 A C SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.546 p.E182D 1.000 pirsf_Pept_S1A_plasmin,superfamily_Kringle-like,smart_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 205 0 0 150 35 18.9189 PLG 0 genome.wustl.edu 37 6 161159605 161159605 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 161159605 161159605 C T SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.1838 p.S613F 0.966 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 130 0 0 117 21 15.2174 QKI 0 genome.wustl.edu 37 6 163956101 163956101 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 163956101 163956101 G A SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.490 p.A164T 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 127 0 0 101 17 14.4068 QKI 0 genome.wustl.edu 37 6 163984455 163984455 + Missense_Mutation SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 163984455 163984455 C G SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.638 p.A213G 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 78 0 0 42 10 19.2308 QKI 0 genome.wustl.edu 37 6 163987788 163987788 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 163987788 163987788 C T SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.970 p.R324C 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 49 0 0 33 12 26.6667 T 0 genome.wustl.edu 37 6 166571818 166571818 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 166571818 166571818 C T SNP T ENST00000296946 human ensembl 74_37 -1 known silent c.1293 p.S431 0.982 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 162 1 0.613497 123 32 20.6452 RNASET2 0 genome.wustl.edu 37 6 167352465 167352465 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 167352465 167352465 C T SNP RNASET2 ENST00000476238 human ensembl 74_37 -1 known missense c.364 p.A122T 0.997 pfam_RNase_T2-like,superfamily_RNase_T2-like pfam_RNase_T2-like,superfamily_RNase_T2-like - no_errors RNASET2 HGNC ENSG00000026297 151 0 0 100 28 21.875 SMOC2 0 genome.wustl.edu 37 6 168949813 168949813 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 168949813 168949813 T C SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known silent c.600 p.I200 0.843 superfamily_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 170 0 0 123 37 23.125 DLL1 0 genome.wustl.edu 37 6 170597466 170597466 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 170597466 170597466 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known silent c.531 p.F177 0.957 pfam_DSL,smart_DSL,pfscan_DSL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 79 0 0 60 12 16.6667 RNF144B 0 genome.wustl.edu 37 6 18399734 18399734 + RNA SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 18399734 18399734 T C SNP RNF144B ENST00000486622 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RNF144B HGNC ENSG00000137393 73 0 0 41 12 22.6415 KIAA0319 0 genome.wustl.edu 37 6 24588957 24588957 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 24588957 24588957 G A SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.858 p.T286 0.000 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 134 0 0 103 26 20.155 TRIM38 0 genome.wustl.edu 37 6 25966795 25966795 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 25966795 25966795 C A SNP TRIM38 ENST00000349458 human ensembl 74_37 +1 known silent c.45 p.T15 0.921 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,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 TRIM38 HGNC ENSG00000112343 92 0 0 62 18 22.5 HIST1H1A 0 genome.wustl.edu 37 6 26017758 26017758 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 26017758 26017758 G A SNP HIST1H1A ENST00000244573 human ensembl 74_37 -1 known missense c.203 p.A68V 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 57 0 0 54 6 10 HIST1H3F 0 genome.wustl.edu 37 6 26250706 26250706 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 26250706 26250706 C A SNP HIST1H3F ENST00000446824 human ensembl 74_37 -1 known missense c.128 p.R43M 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 153 0 0 116 35 23.1788 HIST1H2AL 0 genome.wustl.edu 37 6 27833428 27833428 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 27833428 27833428 G A SNP HIST1H2AL ENST00000357320 human ensembl 74_37 +1 known missense c.296 p.G99D 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 172 1 0.578035 119 30 20.1342 NKAPL 0 genome.wustl.edu 37 6 28227419 28227419 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 28227419 28227419 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known silent c.270 p.S90 0.001 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 106 0 0 71 26 26.8041 OR10C1 0 genome.wustl.edu 37 6 29408492 29408492 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 29408492 29408492 C T SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known missense c.700 p.R234C 0.002 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 377 0 0 262 92 25.9887 CLIC1 0 genome.wustl.edu 37 6 31704062 31704062 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 31704062 31704062 G A SNP CLIC1 ENST00000375779 human ensembl 74_37 -1 known missense c.16 p.P6S 0.995 superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC1 HGNC ENSG00000213719 78 0 0 51 16 23.8806 NEU1 0 genome.wustl.edu 37 6 31829855 31829855 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 31829855 31829855 G A SNP NEU1 ENST00000375631 human ensembl 74_37 -1 known silent c.273 p.L91 0.266 superfamily_Sialidases superfamily_Sialidases - no_errors NEU1 HGNC ENSG00000204386 79 0 0 66 14 17.5 PRRT1 0 genome.wustl.edu 37 6 32117390 32117390 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 32117390 32117390 T C SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known missense c.668 p.Y223C 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 58 0 0 52 7 11.8644 AGPAT1 0 genome.wustl.edu 37 6 32137211 32137211 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 32137211 32137211 G A SNP AGPAT1 ENST00000336984 human ensembl 74_37 -1 known missense c.694 p.R232W 0.995 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT1 HGNC ENSG00000204310 102 0 0 91 26 22.2222 TAP2 0 genome.wustl.edu 37 6 32803500 32803500 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 32803500 32803500 C T SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.659 p.R220Q 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_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 98 0 0 66 18 21.4286 KIFC1 0 genome.wustl.edu 37 6 33373357 33373357 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 33373357 33373357 G T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known missense c.1485 p.E495D 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_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 KIFC1 HGNC ENSG00000237649 35 0 0 24 11 31.4286 ITPR3 0 genome.wustl.edu 37 6 33643506 33643506 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 33643506 33643506 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.3155 p.G1052D 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 59 0 0 34 13 27.6596 GRM4 0 genome.wustl.edu 37 6 34008452 34008452 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 34008452 34008452 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.1242 p.Y414 0.991 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 79 0 0 52 10 16.129 GRM4 0 genome.wustl.edu 37 6 34101128 34101128 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 34101128 34101128 A T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.146 p.I49N 1.000 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,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 70 0 0 47 9 16.0714 PACSIN1 0 genome.wustl.edu 37 6 34499507 34499507 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 34499507 34499507 G A SNP PACSIN1 ENST00000244458 human ensembl 74_37 +1 known missense c.1168 p.V390M 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN1 HGNC ENSG00000124507 175 0 0 137 46 25.1366 UHRF1BP1 0 genome.wustl.edu 37 6 34804017 34804017 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 34804017 34804017 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.925 p.R309C 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 264 0 0 160 60 27.2727 PPARD 0 genome.wustl.edu 37 6 35392439 35392439 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 35392439 35392439 C T SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.961 p.R321C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_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_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 53 0 0 42 9 17.6471 ETV7 0 genome.wustl.edu 37 6 36343699 36343699 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 36343699 36343699 C T SNP ETV7 ENST00000340181 human ensembl 74_37 -1 known missense c.256 p.A86T 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV7 HGNC ENSG00000010030 131 0 0 90 22 19.6429 FAM50B 0 genome.wustl.edu 37 6 3850865 3850865 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 3850865 3850865 G A SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.820 p.V274M 1.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 65 0 0 61 12 16.4384 DAAM2 0 genome.wustl.edu 37 6 39824082 39824082 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 39824082 39824082 G A SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.4 p.A2T 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 8 0 0 2 2 50 LRFN2 0 genome.wustl.edu 37 6 40360464 40360464 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 40360464 40360464 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known silent c.1588 p.L530 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,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 LRFN2 HGNC ENSG00000156564 37 0 0 41 10 19.6078 FOXP4 0 genome.wustl.edu 37 6 41533592 41533592 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 41533592 41533592 G A SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known missense c.94 p.G32S 0.941 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 168 0 0 86 35 28.9256 MDFI 0 genome.wustl.edu 37 6 41613956 41613956 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 41613956 41613956 G A SNP MDFI ENST00000230321 human ensembl 74_37 +1 known missense c.169 p.A57T 0.191 NULL NULL - no_errors MDFI HGNC ENSG00000112559 84 0 0 95 7 6.86275 USP49 0 genome.wustl.edu 37 6 41773695 41773695 + Nonsense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 41773695 41773695 C A SNP USP49 ENST00000373009 human ensembl 74_37 -1 known nonsense c.1027 p.E343* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 56 0 0 41 21 33.871 TRERF1 0 genome.wustl.edu 37 6 42227276 42227276 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 42227276 42227276 C T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known silent c.2130 p.P710 0.811 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 40 0 0 37 10 21.2766 CUL7 0 genome.wustl.edu 37 6 43010580 43010580 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 43010580 43010580 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.3857 p.A1286V 0.994 pfam_Cullin_N pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 20 0 0 17 6 26.087 TTBK1 0 genome.wustl.edu 37 6 43222808 43222808 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 43222808 43222808 C T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known nonsense c.598 p.R200* 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 TTBK1 HGNC ENSG00000146216 89 0 0 57 27 32.1429 YIPF3 0 genome.wustl.edu 37 6 43480020 43480020 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 43480020 43480020 G A SNP YIPF3 ENST00000372422 human ensembl 74_37 -1 known missense c.938 p.P313L 0.995 NULL NULL - no_errors YIPF3 HGNC ENSG00000137207 133 0 0 92 36 28.125 RSPH9 0 genome.wustl.edu 37 6 43612906 43612906 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 43612906 43612906 G A SNP RSPH9 ENST00000372165 human ensembl 74_37 +1 known missense c.71 p.R24H 0.987 NULL NULL - no_errors RSPH9 HGNC ENSG00000172426 70 0 0 40 17 29.8246 SLC29A1 0 genome.wustl.edu 37 6 44198398 44198398 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 44198398 44198398 G A SNP SLC29A1 ENST00000313248 human ensembl 74_37 +1 known missense c.920 p.R307H 0.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 84 0 0 42 14 25 CDYL 0 genome.wustl.edu 37 6 4943797 4943797 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 4943797 4943797 T C SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.1301 p.F434S 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 190 0 0 167 48 22.3256 CDYL 0 genome.wustl.edu 37 6 4952537 4952537 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 4952537 4952537 C T SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.1532 p.A511V 0.998 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 93 0 0 63 16 20.2532 CRISP1 0 genome.wustl.edu 37 6 49825053 49825053 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 49825053 49825053 T C SNP CRISP1 ENST00000335847 human ensembl 74_37 -1 known missense c.61 p.M21V 0.000 superfamily_CAP_domain pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors CRISP1 HGNC ENSG00000124812 76 0 0 49 16 24.6154 PKHD1 0 genome.wustl.edu 37 6 51892954 51892954 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 51892954 51892954 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3560 p.G1187E 1.000 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 330 0 0 259 25 8.80282 ICK 0 genome.wustl.edu 37 6 52883237 52883237 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 52883237 52883237 G A SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.554 p.A185V 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 ICK HGNC ENSG00000112144 247 0 0 184 61 24.898 FARS2 0 genome.wustl.edu 37 6 5369002 5369002 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 5369002 5369002 A G SNP FARS2 ENST00000274680 human ensembl 74_37 +1 known missense c.199 p.T67A 0.078 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 54 0 0 40 14 25.9259 COL21A1 0 genome.wustl.edu 37 6 56047377 56047377 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 56047377 56047377 G A SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known silent c.40 p.L14 0.941 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 23 0 0 14 3 17.6471 DST 0 genome.wustl.edu 37 6 56382024 56382024 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 56382024 56382024 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.18236 p.C6079Y 0.995 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 377 0 0 264 63 19.2661 DST 0 genome.wustl.edu 37 6 56489995 56489995 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 56489995 56489995 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.4691 p.R1564H 0.996 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 368 0 0 249 56 18.3607 DST 0 genome.wustl.edu 37 6 56501366 56501366 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 56501366 56501366 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.2950 p.A984T 0.045 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 208 0 0 149 33 18.1319 KIAA1586 0 genome.wustl.edu 37 6 56917509 56917509 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 56917509 56917509 G A SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.212 p.R71Q 0.756 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 112 0 0 76 17 18.2796 LY86 0 genome.wustl.edu 37 6 6588968 6588968 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 6588968 6588968 A G SNP LY86 ENST00000230568 human ensembl 74_37 +1 known missense c.1 p.M1V 0.994 NULL pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY86 HGNC ENSG00000112799 95 0 0 80 24 23.0769 COL9A1 0 genome.wustl.edu 37 6 70944498 70944498 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 70944498 70944498 G A SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.2258 p.P753L 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 48 0 0 36 14 28 OGFRL1 0 genome.wustl.edu 37 6 72011140 72011140 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 72011140 72011140 G A SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known silent c.744 p.E248 1.000 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 602 0 0 468 135 22.3881 RREB1 0 genome.wustl.edu 37 6 7248924 7248924 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 7248924 7248924 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.4952 p.A1651V 0.991 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 55 0 0 31 7 18.4211 DSP 0 genome.wustl.edu 37 6 7576615 7576615 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 7576615 7576615 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.2719 p.R907C 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 198 0 0 147 41 21.8085 DSP 0 genome.wustl.edu 37 6 7585193 7585193 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 7585193 7585193 T C SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.7698 p.G2566 0.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 145 1 0.684932 97 28 22.4 COL12A1 0 genome.wustl.edu 37 6 75875263 75875263 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 75875263 75875263 A G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.2943 p.S981 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 251 0 0 182 54 22.8814 TMEM30A 0 genome.wustl.edu 37 6 75968604 75968604 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 75968604 75968604 G A SNP TMEM30A ENST00000230461 human ensembl 74_37 -1 known missense c.784 p.R262C 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC ENSG00000112697 157 0 0 121 39 24.375 SENP6 0 genome.wustl.edu 37 6 76425219 76425219 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 76425219 76425219 G T SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.3248 p.S1083I 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 166 0 0 145 38 20.765 MYO6 0 genome.wustl.edu 37 6 76623846 76623846 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 76623846 76623846 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.3509 p.R1170H 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 193 0 0 143 45 23.9362 MYO6 0 genome.wustl.edu 37 6 76624589 76624589 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 76624589 76624589 C T SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.3721 p.R1241C 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 96 0 0 55 16 22.5352 IBTK 0 genome.wustl.edu 37 6 82933262 82933262 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 82933262 82933262 A C SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.1019 p.I340S 0.047 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 135 0 0 110 24 17.9104 C6orf165 0 genome.wustl.edu 37 6 88136278 88136278 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 88136278 88136278 T C SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.875 p.M292T 0.990 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 56 0 0 42 10 19.2308 CNR1 0 genome.wustl.edu 37 6 88854388 88854388 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 88854388 88854388 G T SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.606 p.A202 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 48 0 0 35 10 22.2222 GNB2 0 genome.wustl.edu 37 7 100276081 100276081 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 100276081 100276081 G A SNP GNB2 ENST00000303210 human ensembl 74_37 +1 known missense c.760 p.D254N 1.000 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC ENSG00000172354 45 0 0 39 13 25 TRIP6 0 genome.wustl.edu 37 7 100469273 100469273 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 100469273 100469273 C T SNP TRIP6 ENST00000200457 human ensembl 74_37 +1 known missense c.1108 p.R370C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 75 0 0 54 10 15.625 PLOD3 0 genome.wustl.edu 37 7 100853896 100853896 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 100853896 100853896 G A SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.1417 p.R473W 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 87 0 0 48 22 31.4286 ARMC10 0 genome.wustl.edu 37 7 102738805 102738805 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 102738805 102738805 A G SNP ARMC10 ENST00000323716 human ensembl 74_37 +1 known silent c.837 p.R279 0.896 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 127 0 0 129 12 8.51064 PIK3CG 0 genome.wustl.edu 37 7 106508673 106508673 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 106508673 106508673 G A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.667 p.V223I 0.227 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 127 0 0 78 33 29.7297 NRCAM 0 genome.wustl.edu 37 7 107822325 107822325 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 107822325 107822325 C T SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.2587 p.E863K 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 77 0 0 68 22 24.4444 NRCAM 0 genome.wustl.edu 37 7 107834488 107834488 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 107834488 107834488 C A SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.1758 p.R586S 0.373 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,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 177 0 0 114 46 28.75 WNT2 0 genome.wustl.edu 37 7 116955281 116955281 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 116955281 116955281 G A SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known silent c.432 p.S144 0.005 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 152 0 0 107 37 25.6944 SPAM1 0 genome.wustl.edu 37 7 123593853 123593853 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 123593853 123593853 G A SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.229 p.G77R 0.985 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 121 0 0 91 17 15.7407 ZNF800 0 genome.wustl.edu 37 7 127014342 127014342 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 127014342 127014342 A G SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known missense c.1048 p.S350P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 233 0 0 169 58 25.5507 FSCN3 0 genome.wustl.edu 37 7 127236393 127236393 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 127236393 127236393 C T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.853 p.R285C 0.171 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 284 0 0 222 66 22.9167 RBM28 0 genome.wustl.edu 37 7 127955004 127955004 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 127955004 127955004 G A SNP RBM28 ENST00000223073 human ensembl 74_37 -1 known nonsense c.1858 p.Q620* 0.030 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 352 0 0 304 68 18.2796 IRF5 0 genome.wustl.edu 37 7 128588011 128588011 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 128588011 128588011 G A SNP IRF5 ENST00000357234 human ensembl 74_37 +1 known missense c.1016 p.R339H 0.999 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 108 0 0 104 19 15.4472 SMO 0 genome.wustl.edu 37 7 128845469 128845469 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 128845469 128845469 T C SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.766 p.W256R 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 231 1 0.431034 143 46 24.3386 KLHDC10 0 genome.wustl.edu 37 7 129770479 129770479 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 129770479 129770479 C T SNP KLHDC10 ENST00000335420 human ensembl 74_37 +1 known silent c.1222 p.L408 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 - no_errors KLHDC10 HGNC ENSG00000128607 199 0 0 186 10 5.10204 PODXL 0 genome.wustl.edu 37 7 131195812 131195812 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 131195812 131195812 T C SNP PODXL ENST00000541194 human ensembl 74_37 -1 known missense c.487 p.K163E 0.000 pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 396 2 0.502513 312 74 19.171 PLXNA4 0 genome.wustl.edu 37 7 132192606 132192606 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 132192606 132192606 G T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.847 p.L283I 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 PLXNA4 HGNC ENSG00000221866 108 0 0 54 19 26.0274 EXOC4 0 genome.wustl.edu 37 7 132973835 132973835 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 132973835 132973835 G A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.436 p.A146T 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 47 0 0 42 10 19.2308 EXOC4 0 genome.wustl.edu 37 7 133164813 133164813 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 133164813 133164813 G A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known silent c.1338 p.S446 0.006 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 153 0 0 109 29 21.0145 CNOT4 0 genome.wustl.edu 37 7 135047807 135047807 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 135047807 135047807 C T SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known missense c.1972 p.A658T 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 195 0 0 123 45 26.7857 MGAM 0 genome.wustl.edu 37 7 141795515 141795515 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 141795515 141795515 T C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known splice_site c.4919+2 e40+2 1.000 - - - no_errors MGAM HGNC ENSG00000257335 325 0 0 350 19 5.14905 ZNF282 0 genome.wustl.edu 37 7 148921352 148921352 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 148921352 148921352 G A SNP ZNF282 ENST00000479907 human ensembl 74_37 +1 putative missense c.1372 p.A458T 0.999 NULL pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 26 0 0 20 4 16.6667 ZNF767 0 genome.wustl.edu 37 7 149318586 149318586 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 149318586 149318586 G A SNP ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF767 HGNC ENSG00000133624 150 0 0 87 45 34.0909 SSPO 0 genome.wustl.edu 37 7 149508775 149508775 + RNA SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 149508775 149508775 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.851 - - - no_errors SSPO HGNC ENSG00000197558 144 1 0.689655 80 24 23.0769 KCNH2 0 genome.wustl.edu 37 7 150647278 150647278 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 150647278 150647278 G A SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known silent c.2376 p.G792 0.010 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 89 0 0 58 18 23.6842 KCNH2 0 genome.wustl.edu 37 7 150671835 150671835 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 150671835 150671835 C T SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.271 p.E91K 1.000 pfam_PAS_fold,pfam_PAS_fold_3,superfamily_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 16 0 0 9 5 35.7143 NOS3 0 genome.wustl.edu 37 7 150696110 150696110 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 150696110 150696110 A C SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.893 p.D298A 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 175 0 0 123 31 20.1299 ABCB8 0 genome.wustl.edu 37 7 150725583 150725583 + Silent SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 150725583 150725583 T A SNP ABCB8 ENST00000542328 human ensembl 74_37 +1 known silent c.30 p.A10 0.000 NULL 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 - no_errors ABCB8 HGNC ENSG00000197150 14 0 0 6 4 40 CDK5 0 genome.wustl.edu 37 7 150752436 150752436 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 150752436 150752436 G A SNP CDK5 ENST00000485972 human ensembl 74_37 -1 known missense c.508 p.P170S 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CDK5 HGNC ENSG00000164885 50 0 0 26 10 27.7778 AGAP3 0 genome.wustl.edu 37 7 150814817 150814817 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 150814817 150814817 G A SNP AGAP3 ENST00000397238 human ensembl 74_37 +1 known missense c.659 p.S220N 1.000 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 135 0 0 107 33 23.5714 UBE3C 0 genome.wustl.edu 37 7 157041136 157041136 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 157041136 157041136 C T SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known silent c.2556 p.A852 0.026 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 234 0 0 159 50 23.9234 VIPR2 0 genome.wustl.edu 37 7 158935152 158935152 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 158935152 158935152 G A SNP VIPR2 ENST00000262178 human ensembl 74_37 -1 known missense c.137 p.T46I 0.021 pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt_2 pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 393 0 0 272 80 22.7273 FTSJ2 0 genome.wustl.edu 37 7 2279097 2279097 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 2279097 2279097 G A SNP FTSJ2 ENST00000242257 human ensembl 74_37 -1 known missense c.254 p.A85V 0.998 pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 26 0 0 19 5 20.8333 KLHL7 0 genome.wustl.edu 37 7 23164385 23164385 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 23164385 23164385 T C SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.302 p.F101S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like 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 KLHL7 HGNC ENSG00000122550 151 0 0 87 27 23.6842 TRA2A 0 genome.wustl.edu 37 7 23547109 23547109 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 23547109 23547109 G A SNP TRA2A ENST00000297071 human ensembl 74_37 -1 known missense c.571 p.R191W 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 239 0 0 168 60 26.3158 DFNA5 0 genome.wustl.edu 37 7 24738827 24738827 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 24738827 24738827 T G SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.1309 p.T437P 0.950 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 75 0 0 56 24 30 BRAT1 0 genome.wustl.edu 37 7 2594050 2594050 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 2594050 2594050 C T SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.16 p.A6T 0.833 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 59 0 0 39 18 31.5789 HOXA1 0 genome.wustl.edu 37 7 27135386 27135386 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 27135386 27135386 C T SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known missense c.146 p.G49D 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 98 0 0 87 24 21.6216 HOXA-AS3 0 genome.wustl.edu 37 7 27194919 27194919 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 27194919 27194919 C T SNP HOXA-AS3 ENST00000518947 human ensembl 74_37 +1 known rna NULL NULL 0.099 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 28 0 0 24 14 36.8421 INMT 0 genome.wustl.edu 37 7 30795381 30795381 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 30795381 30795381 C A SNP INMT ENST00000013222 human ensembl 74_37 +1 known missense c.706 p.L236I 0.000 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 154 0 0 117 35 23.0263 RP9 0 genome.wustl.edu 37 7 33136929 33136929 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 33136929 33136929 C T SNP RP9 ENST00000297157 human ensembl 74_37 -1 known missense c.359 p.C120Y 1.000 NULL NULL - no_errors RP9 HGNC ENSG00000164610 178 0 0 121 29 19.3333 BBS9 0 genome.wustl.edu 37 7 33296948 33296948 + Silent SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 33296948 33296948 T G SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known silent c.543 p.P181 0.979 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 211 0 0 151 31 17.033 NPSR1 0 genome.wustl.edu 37 7 34917702 34917702 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 34917702 34917702 G A SNP NPSR1 ENST00000359791 human ensembl 74_37 +1 known missense c.1040 p.R347H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 23 0 0 20 6 23.0769 NPSR1 0 genome.wustl.edu 37 7 34917721 34917721 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 34917721 34917721 G A SNP NPSR1 ENST00000359791 human ensembl 74_37 +1 known silent c.1059 p.A353 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 27 0 0 21 7 25 INHBA 0 genome.wustl.edu 37 7 41729889 41729889 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 41729889 41729889 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.640 p.R214W 0.997 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 55 0 0 57 10 14.9254 GLI3 0 genome.wustl.edu 37 7 42085063 42085063 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 42085063 42085063 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.746 p.S249N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 147 0 0 85 28 24.7788 C7orf25 0 genome.wustl.edu 37 7 42950002 42950002 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 42950002 42950002 G A SNP C7orf25 ENST00000431882 human ensembl 74_37 -1 known silent c.672 p.I224 0.990 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 142 0 0 103 30 22.5564 COA1 0 genome.wustl.edu 37 7 43684886 43684886 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 43684886 43684886 G A SNP COA1 ENST00000223336 human ensembl 74_37 -1 known silent c.228 p.I76 0.000 NULL NULL - no_errors COA1 HGNC ENSG00000106603 79 0 0 69 21 23.3333 NPC1L1 0 genome.wustl.edu 37 7 44579262 44579262 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 44579262 44579262 T G SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.734 p.E245A 0.113 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 87 0 0 56 27 32.5301 NPC1L1 0 genome.wustl.edu 37 7 44579700 44579700 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 44579700 44579700 A G SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.296 p.L99P 0.679 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 67 0 0 49 18 26.8657 TNS3 0 genome.wustl.edu 37 7 47408881 47408881 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 47408881 47408881 G T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.1362 p.T454 0.001 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_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 87 0 0 73 23 23.9583 ABCA13 0 genome.wustl.edu 37 7 48319362 48319362 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 48319362 48319362 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.8571 p.T2857 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 190 0 0 127 37 22.561 COBL 0 genome.wustl.edu 37 7 51096683 51096683 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 51096683 51096683 C T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.2356 p.G786S 0.996 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 139 0 0 109 41 27.3333 POM121L12 0 genome.wustl.edu 37 7 53104026 53104026 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 53104026 53104026 G T SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.662 p.S221I 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 64 0 0 61 10 14.0845 ACTB 0 genome.wustl.edu 37 7 5567738 5567738 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 5567738 5567738 T C SNP ACTB ENST00000331789 human ensembl 74_37 -1 known missense c.881 p.Y294C 0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 253 0 0 194 59 23.3202 PHKG1 0 genome.wustl.edu 37 7 56148844 56148844 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 56148844 56148844 C T SNP PHKG1 ENST00000452681 human ensembl 74_37 -1 known missense c.1163 p.G388D 1.000 prints_Phosph_kin_gamma 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,prints_Phosph_kin_gamma - no_errors PHKG1 HGNC ENSG00000164776 85 0 0 73 36 33.0275 PMS2 0 genome.wustl.edu 37 7 6037037 6037037 + Silent SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 6037037 6037037 A C SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known silent c.723 p.P241 0.993 superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 39 0 0 27 6 18.1818 CYTH3 0 genome.wustl.edu 37 7 6210912 6210912 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 6210912 6210912 C T SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known silent c.483 p.E161 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 - no_errors CYTH3 HGNC ENSG00000008256 109 0 0 71 29 29 AUTS2 0 genome.wustl.edu 37 7 70255700 70255700 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 70255700 70255700 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known silent c.3498 p.R1166 0.994 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 46 0 0 25 12 32.4324 BAZ1B 0 genome.wustl.edu 37 7 72884801 72884801 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 72884801 72884801 C T SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.2606 p.R869H 0.983 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 180 0 0 145 40 21.6216 MLXIPL 0 genome.wustl.edu 37 7 73009996 73009996 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 73009996 73009996 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.2281 p.R761C 0.996 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 93 0 0 58 14 19.4444 RHBDD2 0 genome.wustl.edu 37 7 75517524 75517524 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 75517524 75517524 A G SNP RHBDD2 ENST00000006777 human ensembl 74_37 +1 known missense c.952 p.S318G 0.000 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD2 HGNC ENSG00000005486 274 0 0 182 53 22.5532 HGF 0 genome.wustl.edu 37 7 81346622 81346622 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 81346622 81346622 T C SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.1331 p.D444G 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 205 0 0 115 32 21.7687 CACNA2D1 0 genome.wustl.edu 37 7 81588629 81588629 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 81588629 81588629 G A SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known nonsense c.3157 p.R1053* 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 164 0 0 108 32 22.8571 SEMA3E 0 genome.wustl.edu 37 7 83277848 83277848 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 83277848 83277848 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.11 p.A4V 0.015 NULL pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 46 0 0 39 11 22 ABCB4 0 genome.wustl.edu 37 7 87073078 87073078 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 87073078 87073078 A G SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known silent c.1131 p.I377 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 130 0 0 78 22 22 SUN1 0 genome.wustl.edu 37 7 881705 881705 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 881705 881705 G A SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.563 p.R188Q 0.001 pfam_SUN1 pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 72 0 0 46 19 29.2308 ZNF804B 0 genome.wustl.edu 37 7 88963047 88963047 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 88963047 88963047 T C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.751 p.S251P 0.995 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 127 0 0 86 31 26.4957 ZNF804B 0 genome.wustl.edu 37 7 88964676 88964676 + Nonsense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 88964676 88964676 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known nonsense c.2380 p.E794* 0.452 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 116 0 0 56 25 30.8642 ANKIB1 0 genome.wustl.edu 37 7 92028112 92028112 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 92028112 92028112 A C SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.3119 p.N1040T 0.359 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 36 0 0 17 7 29.1667 TECPR1 0 genome.wustl.edu 37 7 97861206 97861206 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 97861206 97861206 G A SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known silent c.1887 p.D629 0.983 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 40 0 0 24 8 25 BAIAP2L1 0 genome.wustl.edu 37 7 97944910 97944910 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 97944910 97944910 A G SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known silent c.501 p.V167 0.007 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 122 0 0 105 36 25.5319 TMEM130 0 genome.wustl.edu 37 7 98453803 98453803 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 98453803 98453803 G A SNP TMEM130 ENST00000416379 human ensembl 74_37 -1 known silent c.555 p.T185 0.988 superfamily_PKD_dom,pfscan_PKD_dom superfamily_PKD_dom,pfscan_PKD_dom - no_errors TMEM130 HGNC ENSG00000166448 44 0 0 38 8 17.3913 TRRAP 0 genome.wustl.edu 37 7 98609946 98609946 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 98609946 98609946 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.11548 p.R3850C 1.000 pfscan_FATC pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 19 0 0 10 4 28.5714 ZNF394 0 genome.wustl.edu 37 7 99091496 99091496 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 99091496 99091496 C A SNP ZNF394 ENST00000337673 human ensembl 74_37 -1 known missense c.1342 p.G448W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF394 HGNC ENSG00000160908 304 0 0 219 48 17.9775 SPDYE3 0 genome.wustl.edu 37 7 99917282 99917282 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 99917282 99917282 C T SNP SPDYE3 ENST00000332397 human ensembl 74_37 +1 known missense c.1441 p.R481C 0.000 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 153 0 0 116 26 18.3099 VPS13B 0 genome.wustl.edu 37 8 100866205 100866205 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 100866205 100866205 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10663 p.A3555T 0.004 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 211 0 0 178 46 20.5357 UBR5 0 genome.wustl.edu 37 8 103297393 103297393 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 103297393 103297393 C T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.5658 p.A1886 0.322 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 176 0 0 128 35 21.4724 DCSTAMP 0 genome.wustl.edu 37 8 105361783 105361783 + Nonsense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 105361783 105361783 G T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known nonsense c.1003 p.E335* 0.042 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 381 1 0.26178 250 70 21.875 DPYS 0 genome.wustl.edu 37 8 105459576 105459576 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 105459576 105459576 C T SNP DPYS ENST00000351513 human ensembl 74_37 -1 known silent c.579 p.A193 0.007 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 110 0 0 75 33 30.5556 ZFPM2 0 genome.wustl.edu 37 8 106815064 106815064 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 106815064 106815064 A G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.2754 p.K918 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 52 0 0 43 14 24.5614 RSPO2 0 genome.wustl.edu 37 8 109001362 109001362 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 109001362 109001362 G A SNP RSPO2 ENST00000276659 human ensembl 74_37 -1 known missense c.205 p.R69C 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 113 0 0 88 25 22.1239 ENY2 0 genome.wustl.edu 37 8 110348379 110348379 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 110348379 110348379 C T SNP ENY2 ENST00000521688 human ensembl 74_37 +1 known missense c.29 p.A10V 1.000 NULL pfam_TF_enhancer_of_yellow_2 - no_errors ENY2 HGNC ENSG00000120533 37 0 0 45 9 16.6667 SYBU 0 genome.wustl.edu 37 8 110588045 110588045 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 110588045 110588045 T A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.1082 p.D361V 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 145 0 0 131 7 5.07246 CSMD3 0 genome.wustl.edu 37 8 113871489 113871489 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 113871489 113871489 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1640 p.T547M 1.000 superfamily_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 CSMD3 HGNC ENSG00000164796 137 0 0 92 31 25.2033 NEIL2 0 genome.wustl.edu 37 8 11643587 11643587 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 11643587 11643587 T C SNP NEIL2 ENST00000284503 human ensembl 74_37 +1 known silent c.804 p.S268 0.025 pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL2 HGNC ENSG00000154328 207 0 0 148 48 24.4898 EXT1 0 genome.wustl.edu 37 8 118847717 118847717 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 118847717 118847717 G A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1130 p.A377V 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 111 0 0 94 28 22.9508 SNTB1 0 genome.wustl.edu 37 8 121823613 121823613 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 121823613 121823613 G A SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known silent c.471 p.G157 0.996 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 66 0 0 47 21 30.8824 ZHX2 0 genome.wustl.edu 37 8 123965008 123965008 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 123965008 123965008 C T SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.1258 p.R420C 1.000 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 42 0 0 30 9 23.0769 ATAD2 0 genome.wustl.edu 37 8 124371546 124371546 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 124371546 124371546 T C SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.1297 p.N433D 0.780 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 274 0 0 194 66 25.3846 FER1L6 0 genome.wustl.edu 37 8 125022838 125022838 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 125022838 125022838 T C SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.1705 p.Y569H 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 211 0 0 168 49 22.5806 TMEM65 0 genome.wustl.edu 37 8 125332355 125332355 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 125332355 125332355 A G SNP TMEM65 ENST00000297632 human ensembl 74_37 -1 known missense c.593 p.M198T 1.000 pfam_Transmembrane_protein_65 pfam_Transmembrane_protein_65 - no_errors TMEM65 HGNC ENSG00000164983 194 0 0 159 27 14.5161 WISP1 0 genome.wustl.edu 37 8 134232963 134232963 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 134232963 134232963 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known silent c.489 p.P163 0.017 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 65 0 0 51 10 16.3934 ZFAT 0 genome.wustl.edu 37 8 135614542 135614542 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 135614542 135614542 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1420 p.R474C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 61 0 0 62 10 13.8889 GSDMD 0 genome.wustl.edu 37 8 144643943 144643943 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 144643943 144643943 G A SNP GSDMD ENST00000262580 human ensembl 74_37 +1 known nonsense c.768 p.W256* 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMD HGNC ENSG00000104518 17 0 0 12 4 25 PYCRL 0 genome.wustl.edu 37 8 144688646 144688646 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 144688646 144688646 G A SNP PYCRL ENST00000220966 human ensembl 74_37 -1 known silent c.576 p.G192 0.160 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCRL HGNC ENSG00000104524 45 0 0 39 15 27.7778 EPPK1 0 genome.wustl.edu 37 8 144940503 144940503 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 144940503 144940503 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.6919 p.V2307I 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 145 0 0 124 7 5.34351 PLEC 0 genome.wustl.edu 37 8 144990747 144990747 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 144990747 144990747 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.13653 p.R4551 0.996 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 87 0 0 68 20 22.7273 KIFC2 0 genome.wustl.edu 37 8 145694141 145694141 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 145694141 145694141 G A SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known missense c.1037 p.G346D 1.000 superfamily_Prefoldin pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 177 0 0 135 44 24.581 ARHGAP39 0 genome.wustl.edu 37 8 145771001 145771001 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 145771001 145771001 T C SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.2153 p.N718S 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 61 0 0 47 9 16.0714 RPL8 0 genome.wustl.edu 37 8 146015267 146015267 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 146015267 146015267 G A SNP RPL8 ENST00000262584 human ensembl 74_37 -1 known silent c.696 p.G232 0.969 superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 232 0 0 185 62 25.1012 SLC7A2 0 genome.wustl.edu 37 8 17409424 17409424 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 17409424 17409424 G A SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known silent c.1104 p.A368 0.162 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 220 0 0 168 63 27.2727 FGL1 0 genome.wustl.edu 37 8 17726129 17726129 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 17726129 17726129 G A SNP FGL1 ENST00000381840 human ensembl 74_37 -1 known missense c.707 p.T236M 0.997 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 FGL1 HGNC ENSG00000104760 284 1 0.350877 242 27 10.0372 NAT2 0 genome.wustl.edu 37 8 18257712 18257712 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 18257712 18257712 T C SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known missense c.199 p.W67R 1.000 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 204 0 0 147 44 23.0366 ATP6V1B2 0 genome.wustl.edu 37 8 20070374 20070374 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 20070374 20070374 T C SNP ATP6V1B2 ENST00000276390 human ensembl 74_37 +1 known silent c.885 p.V295 0.982 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/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC ENSG00000147416 279 0 0 231 76 24.7557 NPM2 0 genome.wustl.edu 37 8 21891684 21891684 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 21891684 21891684 G T SNP NPM2 ENST00000397940 human ensembl 74_37 +1 known missense c.429 p.E143D 0.050 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM2 HGNC ENSG00000158806 131 0 0 63 18 22.2222 NPM2 0 genome.wustl.edu 37 8 21891687 21891687 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 21891687 21891687 A T SNP NPM2 ENST00000397940 human ensembl 74_37 +1 known missense c.432 p.E144D 0.000 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM2 HGNC ENSG00000158806 134 0 0 59 19 24.359 NPM2 0 genome.wustl.edu 37 8 21891690 21891690 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 21891690 21891690 T G SNP NPM2 ENST00000397940 human ensembl 74_37 +1 known missense c.435 p.D145E 0.000 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM2 HGNC ENSG00000158806 130 0 0 58 19 24.6753 REEP4 0 genome.wustl.edu 37 8 21997010 21997010 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 21997010 21997010 C T SNP REEP4 ENST00000306306 human ensembl 74_37 -1 known silent c.336 p.E112 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 60 0 0 40 15 27.2727 SORBS3 0 genome.wustl.edu 37 8 22415705 22415705 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 22415705 22415705 G A SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.478 p.D160N 1.000 smart_Sorb,pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 92 0 0 80 5 5.88235 PDLIM2 0 genome.wustl.edu 37 8 22452098 22452098 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 22452098 22452098 T C SNP PDLIM2 ENST00000265810 human ensembl 74_37 +1 known missense c.1037 p.M346T 0.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 150 0 0 119 37 23.7179 EBF2 0 genome.wustl.edu 37 8 25718687 25718687 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 25718687 25718687 C T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.1220 p.R407K 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 176 0 0 167 39 18.932 SCARA3 0 genome.wustl.edu 37 8 27516154 27516154 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 27516154 27516154 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.467 p.A156V 1.000 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 137 0 0 131 8 5.7554 CSMD1 0 genome.wustl.edu 37 8 3045475 3045475 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 3045475 3045475 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5539 p.S1847G 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 38 0 0 23 12 34.2857 PURG 0 genome.wustl.edu 37 8 30889719 30889719 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 30889719 30889719 G A SNP PURG ENST00000475541 human ensembl 74_37 -1 known missense c.580 p.R194C 0.992 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 178 0 0 125 41 24.6988 NRG1 0 genome.wustl.edu 37 8 32505416 32505416 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 32505416 32505416 G A SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known silent c.180 p.A60 1.000 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 109 0 0 84 21 20 NRG1 0 genome.wustl.edu 37 8 32617802 32617802 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 32617802 32617802 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.1170 p.S390 1.000 pfam_Neuregulin_1_C,prints_Neuregulin pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 268 0 0 201 58 22.3938 ERLIN2 0 genome.wustl.edu 37 8 37597886 37597886 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 37597886 37597886 C T SNP ERLIN2 ENST00000276461 human ensembl 74_37 +1 known silent c.111 p.G37 0.105 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors ERLIN2 HGNC ENSG00000147475 379 0 0 263 74 21.9585 GPR124 0 genome.wustl.edu 37 8 37688981 37688981 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 37688981 37688981 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.973 p.E325K 0.988 smart_Ig_sub,pfscan_Ig-like_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 70 0 0 43 17 28.3333 TM2D2 0 genome.wustl.edu 37 8 38851132 38851132 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 38851132 38851132 G A SNP TM2D2 ENST00000456397 human ensembl 74_37 -1 known silent c.363 p.C121 0.997 NULL pfam_TM2 - no_errors TM2D2 HGNC ENSG00000169490 121 0 0 66 17 20.4819 KAT6A 0 genome.wustl.edu 37 8 41791956 41791956 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 41791956 41791956 G T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.3782 p.P1261H 0.998 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 45 0 0 20 8 28.5714 IKBKB 0 genome.wustl.edu 37 8 42178357 42178357 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 42178357 42178357 C T SNP IKBKB ENST00000520655 human ensembl 74_37 +1 known nonsense c.1621 p.R541* 0.596 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,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 76 0 0 62 17 21.519 NPBWR1 0 genome.wustl.edu 37 8 53852765 53852765 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 53852765 53852765 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.298 p.R100W 0.955 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt 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 28 0 0 21 4 16 PENK 0 genome.wustl.edu 37 8 57358398 57358398 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 57358398 57358398 G A SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.115 p.R39C 0.966 pfam_Opioid_neupept,prints_Proenkphlin_A pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 72 0 0 34 19 35.8491 PENK 0 genome.wustl.edu 37 8 57358505 57358505 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 57358505 57358505 C T SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.8 p.R3Q 0.980 NULL pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 24 0 0 9 7 43.75 CYP7A1 0 genome.wustl.edu 37 8 59409729 59409729 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 59409729 59409729 A C SNP CYP7A1 ENST00000301645 human ensembl 74_37 -1 known missense c.342 p.I114M 0.991 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 CYP7A1 HGNC ENSG00000167910 142 0 0 99 30 23.2558 ARMC1 0 genome.wustl.edu 37 8 66534566 66534566 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 66534566 66534566 G A SNP ARMC1 ENST00000458464 human ensembl 74_37 -1 known missense c.91 p.P31S 1.000 NULL superfamily_HeavyMe-assoc_HMA - no_errors ARMC1 HGNC ENSG00000104442 224 0 0 147 53 26.5 VCPIP1 0 genome.wustl.edu 37 8 67547088 67547088 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 67547088 67547088 C T SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.3317 p.R1106Q 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 222 0 0 133 48 26.5193 CPA6 0 genome.wustl.edu 37 8 68396023 68396023 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 68396023 68396023 T C SNP CPA6 ENST00000297770 human ensembl 74_37 -1 known missense c.818 p.N273S 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 333 0 0 254 77 23.2628 PREX2 0 genome.wustl.edu 37 8 68942753 68942753 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 68942753 68942753 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.565 p.R189W 0.995 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 82 0 0 62 20 24.3902 KCNB2 0 genome.wustl.edu 37 8 73849351 73849351 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 73849351 73849351 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.1761 p.A587 0.033 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 111 0 0 70 23 24.7312 PI15 0 genome.wustl.edu 37 8 75737662 75737662 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 75737662 75737662 C T SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.178 p.R60C 1.000 superfamily_CAP_domain pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 137 0 0 102 26 20.3125 HNF4G 0 genome.wustl.edu 37 8 76471161 76471161 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 76471161 76471161 C T SNP HNF4G ENST00000396423 human ensembl 74_37 +1 known missense c.982 p.L328F 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 164 0 0 113 39 25.6579 ZFHX4 0 genome.wustl.edu 37 8 77765551 77765551 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 77765551 77765551 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.6394 p.P2132T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 43 0 0 35 7 16.6667 FAM86B3P 0 genome.wustl.edu 37 8 8095990 8095990 + RNA SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 8095990 8095990 C G SNP FAM86B3P ENST00000590591 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors FAM86B3P HGNC ENSG00000173295 11 0 0 5 3 37.5 KIAA1429 0 genome.wustl.edu 37 8 95502202 95502202 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 95502202 95502202 C T SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.5249 p.G1750D 0.998 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 135 0 0 90 26 22.4138 GDF6 0 genome.wustl.edu 37 8 97156813 97156813 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 97156813 97156813 A G SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.1346 p.V449A 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 24 0 0 21 7 25 MTERFD1 0 genome.wustl.edu 37 8 97270799 97270799 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 97270799 97270799 G A SNP MTERFD1 ENST00000287025 human ensembl 74_37 -1 known silent c.120 p.G40 0.006 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD1 HGNC ENSG00000156469 333 0 0 227 53 18.9286 TDRD7 0 genome.wustl.edu 37 9 100245400 100245400 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 100245400 100245400 C T SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known silent c.2682 p.S894 0.001 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 104 0 0 78 28 26.4151 TMOD1 0 genome.wustl.edu 37 9 100353681 100353681 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 100353681 100353681 C T SNP TMOD1 ENST00000259365 human ensembl 74_37 +1 known missense c.979 p.R327W 0.995 NULL pfam_Tropomodulin - no_errors TMOD1 HGNC ENSG00000136842 148 0 0 134 38 22.093 GABBR2 0 genome.wustl.edu 37 9 101258740 101258740 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 101258740 101258740 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known silent c.687 p.T229 0.002 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 90 0 0 67 15 18.2927 NR4A3 0 genome.wustl.edu 37 9 102590423 102590423 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 102590423 102590423 C T SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known silent c.132 p.P44 0.002 prints_Nuc_orph_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_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 129 0 0 94 32 25.3968 MSANTD3 0 genome.wustl.edu 37 9 103204533 103204533 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 103204533 103204533 G A SNP MSANTD3 ENST00000395067 human ensembl 74_37 +1 known missense c.313 p.V105I 0.995 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 66 0 0 59 16 21.3333 ACTL7B 0 genome.wustl.edu 37 9 111617246 111617246 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 111617246 111617246 C T SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known missense c.965 p.C322Y 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 105 0 0 62 18 22.5 ACTL7B 0 genome.wustl.edu 37 9 111617489 111617489 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 111617489 111617489 C T SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known missense c.722 p.G241D 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 80 0 0 45 16 26.2295 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900030 112900030 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 112900030 112900030 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.2206 p.A736T 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 163 0 0 142 52 26.8041 SVEP1 0 genome.wustl.edu 37 9 113197545 113197545 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 113197545 113197545 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.4864 p.D1622N 0.221 superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 163 0 0 120 31 20.5298 SVEP1 0 genome.wustl.edu 37 9 113228188 113228188 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 113228188 113228188 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.3279 p.T1093 0.968 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 48 0 0 22 6 21.4286 WDR31 0 genome.wustl.edu 37 9 116079151 116079151 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 116079151 116079151 A G SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known silent c.982 p.L328 0.725 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 WDR31 HGNC ENSG00000148225 91 0 0 78 26 25 C9orf43 0 genome.wustl.edu 37 9 116187629 116187629 + Silent SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 116187629 116187629 A C SNP C9orf43 ENST00000288462 human ensembl 74_37 +1 known silent c.871 p.R291 0.000 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 82 0 0 76 7 8.43373 RGS3 0 genome.wustl.edu 37 9 116269753 116269753 + Nonsense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 116269753 116269753 C A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known nonsense c.1272 p.C424* 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 28 0 0 20 6 23.0769 RGS3 0 genome.wustl.edu 37 9 116276899 116276899 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 116276899 116276899 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.1639 p.A547T 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 112 0 0 71 23 24.4681 ZNF618 0 genome.wustl.edu 37 9 116811442 116811442 + Silent SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 116811442 116811442 G T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.1860 p.R620 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 170 0 0 128 27 17.4194 COL27A1 0 genome.wustl.edu 37 9 116930239 116930239 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 116930239 116930239 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.404 p.T135M 0.881 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 87 0 0 67 21 23.8636 COL27A1 0 genome.wustl.edu 37 9 116930829 116930829 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 116930829 116930829 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.994 p.A332T 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 80 0 0 54 15 21.7391 ORM1 0 genome.wustl.edu 37 9 117085980 117085980 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 117085980 117085980 G A SNP ORM1 ENST00000259396 human ensembl 74_37 +1 known missense c.152 p.R51Q 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM1 HGNC ENSG00000229314 93 0 0 66 23 25.8427 AKNA 0 genome.wustl.edu 37 9 117139520 117139520 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 117139520 117139520 G A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known silent c.567 p.V189 0.094 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 137 1 0.724638 82 30 26.7857 CDK5RAP2 0 genome.wustl.edu 37 9 123165217 123165217 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 123165217 123165217 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.5174 p.R1725H 0.181 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 116 0 0 77 30 28.0374 C5 0 genome.wustl.edu 37 9 123742388 123742388 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 123742388 123742388 C T SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.3631 p.A1211T 0.001 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 167 0 0 119 37 23.7179 PTGS1 0 genome.wustl.edu 37 9 125143952 125143952 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 125143952 125143952 G A SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.688 p.G230S 0.915 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 56 0 0 41 12 22.6415 OR1N1 0 genome.wustl.edu 37 9 125289221 125289221 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 125289221 125289221 A C SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known missense c.352 p.Y118D 0.971 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 OR1N1 HGNC ENSG00000171505 82 0 0 53 10 15.873 OR1Q1 0 genome.wustl.edu 37 9 125377563 125377563 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 125377563 125377563 G A SNP OR1Q1 ENST00000297913 human ensembl 74_37 +1 known missense c.547 p.A183T 0.052 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 OR1Q1 HGNC ENSG00000165202 224 0 0 163 50 23.4742 OR1L1 0 genome.wustl.edu 37 9 125424142 125424142 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 125424142 125424142 C T SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.298 p.R100C 0.020 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 OR1L1 HGNC ENSG00000173679 229 0 0 172 49 22.1719 CRB2 0 genome.wustl.edu 37 9 126129579 126129579 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 126129579 126129579 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.883 p.A295T 0.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 57 0 0 42 7 14.2857 WDR38 0 genome.wustl.edu 37 9 127616498 127616498 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 127616498 127616498 C A SNP WDR38 ENST00000373574 human ensembl 74_37 +1 known silent c.84 p.A28 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 377 0 0 272 78 22.2857 PBX3 0 genome.wustl.edu 37 9 128725361 128725361 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 128725361 128725361 A G SNP PBX3 ENST00000373489 human ensembl 74_37 +1 known missense c.1193 p.Y398C 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX3 HGNC ENSG00000167081 39 0 0 23 7 23.3333 FAM129B 0 genome.wustl.edu 37 9 130269612 130269612 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 130269612 130269612 C T SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.1753 p.A585T 0.003 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 27 0 0 20 7 25.9259 MPDZ 0 genome.wustl.edu 37 9 13140138 13140138 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 13140138 13140138 T C SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.3851 p.Q1284R 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 269 0 0 170 43 20.1878 C9orf114 0 genome.wustl.edu 37 9 131589411 131589411 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 131589411 131589411 G A SNP C9orf114 ENST00000361256 human ensembl 74_37 -1 known missense c.268 p.P90S 0.985 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 107 0 0 78 14 15.2174 DOLPP1 0 genome.wustl.edu 37 9 131847515 131847515 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 131847515 131847515 G A SNP DOLPP1 ENST00000372546 human ensembl 74_37 +1 known missense c.292 p.G98R 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 DOLPP1 HGNC ENSG00000167130 174 0 0 96 31 24.4094 USP20 0 genome.wustl.edu 37 9 132637208 132637208 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 132637208 132637208 C T SNP USP20 ENST00000315480 human ensembl 74_37 +1 known silent c.2022 p.N674 0.915 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 34 0 0 48 13 21.3115 LAMC3 0 genome.wustl.edu 37 9 133901719 133901719 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 133901719 133901719 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.421 p.R141C 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 62 0 0 42 22 34.375 POMT1 0 genome.wustl.edu 37 9 134393862 134393862 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 134393862 134393862 G A SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.1369 p.V457I 0.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 446 0 0 342 94 21.5596 NTNG2 0 genome.wustl.edu 37 9 135102276 135102276 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 135102276 135102276 G A SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.898 p.E300K 1.000 pfam_EGF_laminin,smart_EGF_laminin 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 25 0 0 17 5 22.7273 AK8 0 genome.wustl.edu 37 9 135690055 135690055 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 135690055 135690055 T C SNP AK8 ENST00000298545 human ensembl 74_37 -1 known missense c.949 p.I317V 0.191 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 62 0 0 38 13 25.4902 GTF3C5 0 genome.wustl.edu 37 9 135906432 135906432 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 135906432 135906432 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.34 p.A12T 0.000 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 27 0 0 13 7 35 SURF1 0 genome.wustl.edu 37 9 136219368 136219368 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 136219368 136219368 A C SNP SURF1 ENST00000371974 human ensembl 74_37 -1 known missense c.684 p.H228Q 0.994 pfam_Surf1/Shy1,pfscan_Surf1/Shy1 pfam_Surf1/Shy1,pfscan_Surf1/Shy1 - no_errors SURF1 HGNC ENSG00000148290 111 0 0 89 17 16.0377 C9orf96 0 genome.wustl.edu 37 9 136262382 136262382 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 136262382 136262382 A G SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known missense c.958 p.T320A 0.072 superfamily_Kinase-like_dom 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_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 40 0 0 30 8 21.0526 VAV2 0 genome.wustl.edu 37 9 136662911 136662911 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 136662911 136662911 T C SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.857 p.Y286C 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 49 0 0 38 3 7.31707 COL5A1 0 genome.wustl.edu 37 9 137591897 137591897 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 137591897 137591897 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.420 p.Y140 0.982 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 113 0 0 82 22 21.1538 FCN1 0 genome.wustl.edu 37 9 137804344 137804344 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 137804344 137804344 G T SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known missense c.586 p.L196M 0.598 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,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 32 0 0 20 9 31.0345 OLFM1 0 genome.wustl.edu 37 9 138011566 138011566 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 138011566 138011566 C T SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.1000 p.R334C 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 92 0 0 45 27 37.5 SNAPC4 0 genome.wustl.edu 37 9 139278455 139278455 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 139278455 139278455 G A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.1450 p.P484S 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 61 0 0 40 9 18.3673 RABL6 0 genome.wustl.edu 37 9 139726288 139726288 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 139726288 139726288 C T SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.574 p.R192C 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 37 0 0 24 4 14.2857 MAMDC4 0 genome.wustl.edu 37 9 139748023 139748023 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 139748023 139748023 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known nonsense c.355 p.R119* 0.344 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 105 0 0 66 21 24.1379 TRAF2 0 genome.wustl.edu 37 9 139814907 139814907 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 139814907 139814907 C A SNP TRAF2 ENST00000359662 human ensembl 74_37 +1 known silent c.1056 p.A352 0.012 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 40 0 0 29 12 29.2683 C9orf139 0 genome.wustl.edu 37 9 139929124 139929124 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 139929124 139929124 G A SNP C9orf139 ENST00000314330 human ensembl 74_37 +1 known missense c.191 p.R64K 0.965 NULL NULL - no_errors C9orf139 HGNC ENSG00000180539 94 0 0 81 20 19.802 SLC34A3 0 genome.wustl.edu 37 9 140130434 140130434 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 140130434 140130434 G A SNP SLC34A3 ENST00000361134 human ensembl 74_37 +1 known missense c.1366 p.A456T 0.129 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 98 0 0 71 18 20.2247 SLC34A3 0 genome.wustl.edu 37 9 140130512 140130512 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 140130512 140130512 G A SNP SLC34A3 ENST00000361134 human ensembl 74_37 +1 known missense c.1444 p.A482T 0.998 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 60 0 0 53 13 19.697 C9orf173 0 genome.wustl.edu 37 9 140147666 140147666 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 140147666 140147666 G A SNP C9orf173 ENST00000412566 human ensembl 74_37 +1 known missense c.896 p.R299H 0.806 NULL NULL - no_errors C9orf173 HGNC ENSG00000197768 16 0 0 8 4 33.3333 ARRDC1 0 genome.wustl.edu 37 9 140508392 140508392 + RNA SNP C C G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 140508392 140508392 C G SNP ARRDC1 ENST00000466367 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ARRDC1 HGNC ENSG00000197070 40 0 0 31 6 16.2162 ZDHHC21 0 genome.wustl.edu 37 9 14674299 14674299 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 14674299 14674299 A G SNP ZDHHC21 ENST00000380916 human ensembl 74_37 -1 known missense c.40 p.W14R 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC21 HGNC ENSG00000175893 194 0 0 112 38 25.3333 CNTLN 0 genome.wustl.edu 37 9 17484293 17484293 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 17484293 17484293 G A SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.3856 p.A1286T 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 209 0 0 165 42 20.2899 HAUS6 0 genome.wustl.edu 37 9 19058515 19058515 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 19058515 19058515 T G SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known missense c.2250 p.K750N 0.197 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 51 0 0 60 8 11.7647 SMARCA2 0 genome.wustl.edu 37 9 2104016 2104016 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 2104016 2104016 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.3139 p.R1047W 1.000 superfamily_P-loop_NTPase 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,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 316 0 0 224 60 21.1268 CDKN2A 0 genome.wustl.edu 37 9 21974573 21974573 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 21974573 21974573 T C SNP CDKN2A ENST00000380151 human ensembl 74_37 -1 known missense c.254 p.K85R 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 403 0 0 296 95 24.2967 KIAA0020 0 genome.wustl.edu 37 9 2820070 2820070 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 2820070 2820070 G A SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known missense c.1217 p.A406V 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 95 0 0 72 19 20.8791 KIAA0020 0 genome.wustl.edu 37 9 2831004 2831004 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 2831004 2831004 G A SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known missense c.635 p.A212V 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 43 0 0 26 13 33.3333 B4GALT1 0 genome.wustl.edu 37 9 33167076 33167076 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 33167076 33167076 G A SNP B4GALT1 ENST00000379731 human ensembl 74_37 -1 known missense c.92 p.A31V 0.992 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT1 HGNC ENSG00000086062 17 0 0 13 5 27.7778 NOL6 0 genome.wustl.edu 37 9 33462740 33462740 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 33462740 33462740 T C SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known silent c.3363 p.A1121 0.912 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 105 0 0 70 25 26.3158 KIF24 0 genome.wustl.edu 37 9 34311229 34311229 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 34311229 34311229 T C SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.116 p.D39G 1.000 pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 62 0 0 39 16 29.0909 VCP 0 genome.wustl.edu 37 9 35067913 35067913 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 35067913 35067913 G A SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.277 p.R93C 1.000 pfam_CDC4_N-term_subdom,superfamily_Asp_de-COase-like_dom,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 107 0 0 74 4 5.12821 UNC13B 0 genome.wustl.edu 37 9 35403768 35403768 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 35403768 35403768 C A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.4571 p.P1524H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_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_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 77 0 0 53 20 27.3973 RUSC2 0 genome.wustl.edu 37 9 35555607 35555607 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 35555607 35555607 G A SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known silent c.2565 p.P855 0.952 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 63 0 0 47 18 27.6923 FAM166B 0 genome.wustl.edu 37 9 35563290 35563290 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 35563290 35563290 C T SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known nonsense c.159 p.W53* 1.000 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 117 0 0 79 31 28.1818 TESK1 0 genome.wustl.edu 37 9 35609368 35609368 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 35609368 35609368 C T SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known nonsense c.1510 p.Q504* 0.877 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 84 0 0 51 9 15 GRHPR 0 genome.wustl.edu 37 9 37428512 37428512 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 37428512 37428512 C T SNP GRHPR ENST00000318158 human ensembl 74_37 +1 known silent c.436 p.L146 0.994 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors GRHPR HGNC ENSG00000137106 168 0 0 95 34 26.3566 FRMPD1 0 genome.wustl.edu 37 9 37746591 37746591 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 37746591 37746591 C T SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.4562 p.A1521V 0.013 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 141 0 0 76 33 30.2752 JAK2 0 genome.wustl.edu 37 9 5089751 5089751 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 5089751 5089751 G A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known silent c.2649 p.K883 1.000 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 145 0 0 98 38 27.9412 KDM4C 0 genome.wustl.edu 37 9 6805770 6805770 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 6805770 6805770 G A SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.316 p.G106S 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 91 0 0 77 32 29.3578 KDM4C 0 genome.wustl.edu 37 9 6814672 6814672 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 6814672 6814672 G A SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.362 p.R121H 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 188 0 0 140 38 21.3483 PRKACG 0 genome.wustl.edu 37 9 71628327 71628327 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 71628327 71628327 G A SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known missense c.682 p.L228F 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 75 0 0 57 13 18.5714 TMEM2 0 genome.wustl.edu 37 9 74329881 74329881 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 74329881 74329881 C A SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.2560 p.D854Y 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 195 0 0 132 27 16.9811 ALDH1A1 0 genome.wustl.edu 37 9 75539031 75539031 + Silent SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 75539031 75539031 T G SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known silent c.651 p.G217 0.995 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 165 0 0 133 41 23.5632 VPS13A 0 genome.wustl.edu 37 9 79952237 79952237 + Missense_Mutation SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 79952237 79952237 G C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.6162 p.E2054D 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 106 0 0 53 24 31.1688 SHC3 0 genome.wustl.edu 37 9 91657048 91657048 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 91657048 91657048 G A SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.1253 p.T418M 0.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 158 0 0 106 39 26.8966 SEMA4D 0 genome.wustl.edu 37 9 91994251 91994251 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 91994251 91994251 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.1957 p.V653I 0.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 390 1 0.255754 270 75 21.7391 ROR2 0 genome.wustl.edu 37 9 94495680 94495680 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 94495680 94495680 C A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.661 p.D221Y 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom 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 ROR2 HGNC ENSG00000169071 26 0 0 17 5 22.7273 BICD2 0 genome.wustl.edu 37 9 95481241 95481241 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 95481241 95481241 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known silent c.1686 p.G562 0.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 37 0 0 21 6 22.2222 BICD2 0 genome.wustl.edu 37 9 95481833 95481833 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 95481833 95481833 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.1094 p.T365M 0.452 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 14 0 0 16 5 23.8095 FAM120A 0 genome.wustl.edu 37 9 96261170 96261170 + Splice_Site SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 96261170 96261170 T C SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known splice_site c.1030+2 e5+2 1.000 - - - no_errors FAM120A HGNC ENSG00000048828 297 0 0 249 57 18.6275 PHF2 0 genome.wustl.edu 37 9 96438043 96438043 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 96438043 96438043 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2804 p.A935V 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 88 0 0 56 18 24.3243 PTCH1 0 genome.wustl.edu 37 9 98268780 98268780 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 98268780 98268780 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.303 p.F101 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 52 0 0 43 15 25.8621 CDC14B 0 genome.wustl.edu 37 9 99285991 99285991 + Silent SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 99285991 99285991 C A SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known silent c.963 p.T321 0.271 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 75 0 0 35 16 31.3725 CSTF2 0 genome.wustl.edu 37 X 100088274 100088274 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 100088274 100088274 G A SNP CSTF2 ENST00000415585 human ensembl 74_37 +1 known missense c.1373 p.R458H 0.061 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 13 0 0 10 11 52.381 TRMT2B 0 genome.wustl.edu 37 X 100292967 100292967 + Missense_Mutation SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 100292967 100292967 A G SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known missense c.377 p.V126A 0.000 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 310 0 0 168 132 44 ARMCX5 0 genome.wustl.edu 37 X 101857120 101857120 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 101857120 101857120 C T SNP ARMCX5 ENST00000246174 human ensembl 74_37 +1 known silent c.51 p.G17 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 46 0 0 16 11 40.7407 GPRASP1 0 genome.wustl.edu 37 X 101909665 101909665 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 101909665 101909665 C A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.824 p.P275H 0.317 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 162 0 0 162 16 8.98876 TCEAL5 0 genome.wustl.edu 37 X 102529176 102529176 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 102529176 102529176 G A SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known missense c.316 p.R106C 0.527 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 122 0 0 54 50 48.0769 BEX2 0 genome.wustl.edu 37 X 102564733 102564733 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 102564733 102564733 C T SNP BEX2 ENST00000536889 human ensembl 74_37 -1 known missense c.268 p.V90I 0.034 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors BEX2 HGNC ENSG00000133134 132 0 0 79 63 44.3662 TBC1D8B 0 genome.wustl.edu 37 X 106083331 106083331 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 106083331 106083331 A G SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known silent c.1407 p.G469 0.099 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 125 0 0 65 68 51.1278 RBM41 0 genome.wustl.edu 37 X 106358698 106358698 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 106358698 106358698 C T SNP RBM41 ENST00000372479 human ensembl 74_37 -1 known missense c.407 p.C136Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM41 HGNC ENSG00000089682 80 0 0 37 35 48.6111 TSC22D3 0 genome.wustl.edu 37 X 106957913 106957913 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 106957913 106957913 G A SNP TSC22D3 ENST00000315660 human ensembl 74_37 -1 known nonsense c.439 p.R147* 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 168 0 0 80 77 49.0446 KCNE1L 0 genome.wustl.edu 37 X 108868075 108868075 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 108868075 108868075 C T SNP KCNE1L ENST00000372101 human ensembl 74_37 -1 known missense c.175 p.A59T 0.997 NULL NULL - no_errors KCNE1L HGNC ENSG00000176076 46 0 0 24 11 31.4286 HCCS 0 genome.wustl.edu 37 X 11133052 11133052 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 11133052 11133052 T C SNP HCCS ENST00000321143 human ensembl 74_37 +1 known silent c.198 p.C66 0.998 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 124 0 0 47 41 46.5909 LUZP4 0 genome.wustl.edu 37 X 114540853 114540853 + Missense_Mutation SNP T T A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 114540853 114540853 T A SNP LUZP4 ENST00000371920 human ensembl 74_37 +1 known missense c.426 p.N142K 0.001 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 79 0 0 38 40 51.2821 KLHL13 0 genome.wustl.edu 37 X 117043783 117043783 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 117043783 117043783 G A SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known nonsense c.856 p.R286* 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 KLHL13 HGNC ENSG00000003096 144 0 0 54 47 46.5347 SLC25A43 0 genome.wustl.edu 37 X 118587102 118587102 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 118587102 118587102 C T SNP SLC25A43 ENST00000488158 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A43 HGNC ENSG00000077713 16 0 0 11 7 38.8889 DCAF12L2 0 genome.wustl.edu 37 X 125299494 125299494 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 125299494 125299494 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.414 p.D138 0.871 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 68 0 0 34 33 49.2537 HS6ST2 0 genome.wustl.edu 37 X 132091108 132091108 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 132091108 132091108 G A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known silent c.675 p.G225 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 24 0 0 14 10 41.6667 RBMX 0 genome.wustl.edu 37 X 135956553 135956553 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 135956553 135956553 A T SNP RBMX ENST00000320676 human ensembl 74_37 -1 known missense c.924 p.S308R 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 133 0 0 79 49 38.2812 FGF13 0 genome.wustl.edu 37 X 137717759 137717759 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 137717759 137717759 T C SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.490 p.T164A 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 110 0 0 63 45 41.6667 GEMIN8 0 genome.wustl.edu 37 X 14027102 14027102 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 14027102 14027102 T C SNP GEMIN8 ENST00000380523 human ensembl 74_37 -1 known missense c.659 p.Q220R 1.000 NULL NULL - no_errors GEMIN8 HGNC ENSG00000046647 109 0 0 106 6 5.35714 FMR1 0 genome.wustl.edu 37 X 147019098 147019098 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 147019098 147019098 T C SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known silent c.1104 p.P368 0.996 smart_KH_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 142 0 0 78 51 39.5349 IL3RA 0 genome.wustl.edu 37 X 1499988 1499988 + Silent SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 1499988 1499988 C T SNP IL3RA ENST00000331035 human ensembl 74_37 +1 known silent c.1053 p.N351 0.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 343 0 0 215 71 24.8252 PRRG3 0 genome.wustl.edu 37 X 150869231 150869231 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 150869231 150869231 G A SNP PRRG3 ENST00000370353 human ensembl 74_37 +1 known missense c.422 p.S141N 0.587 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 60 0 0 38 32 45.7143 ZNF185 0 genome.wustl.edu 37 X 152135749 152135749 + Missense_Mutation SNP A A C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 152135749 152135749 A C SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.1931 p.K644T 0.124 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 74 0 0 26 25 49.0196 ASMTL-AS1 0 genome.wustl.edu 37 X 1522430 1522430 + RNA SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 1522430 1522430 T G SNP ASMTL-AS1 ENST00000419737 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors ASMTL-AS1 HGNC ENSG00000236017 49 0 0 44 9 16.9811 RENBP 0 genome.wustl.edu 37 X 153209078 153209078 + Nonsense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 153209078 153209078 G A SNP RENBP ENST00000393700 human ensembl 74_37 -1 known nonsense c.382 p.Q128* 1.000 pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like - no_errors RENBP HGNC ENSG00000102032 62 0 0 48 12 20 HCFC1 0 genome.wustl.edu 37 X 153218045 153218045 + Missense_Mutation SNP G G T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 153218045 153218045 G T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.4862 p.A1621D 0.997 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 22 0 0 9 7 43.75 FLNA 0 genome.wustl.edu 37 X 153591075 153591075 + Silent SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 153591075 153591075 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.2358 p.A786 0.018 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 FLNA HGNC ENSG00000196924 23 0 0 9 12 57.1429 MBTPS2 0 genome.wustl.edu 37 X 21896785 21896785 + Silent SNP A A G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 21896785 21896785 A G SNP MBTPS2 ENST00000379484 human ensembl 74_37 +1 known silent c.1236 p.G412 0.997 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 157 0 0 96 79 45.1429 POLA1 0 genome.wustl.edu 37 X 24760164 24760164 + Silent SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 24760164 24760164 T C SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known silent c.2392 p.L798 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 112 0 0 46 51 52.5773 MXRA5 0 genome.wustl.edu 37 X 3228890 3228890 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 3228890 3228890 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.7354 p.V2452M 0.146 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 34 0 0 20 18 47.3684 OTC 0 genome.wustl.edu 37 X 38271179 38271179 + Missense_Mutation SNP T T G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 38271179 38271179 T G SNP OTC ENST00000039007 human ensembl 74_37 +1 known missense c.932 p.V311G 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans - no_errors OTC HGNC ENSG00000036473 139 1 0.714286 61 72 54.1353 CXorf38 0 genome.wustl.edu 37 X 40496296 40496296 + Missense_Mutation SNP A A T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 40496296 40496296 A T SNP CXorf38 ENST00000327877 human ensembl 74_37 -1 known missense c.584 p.I195N 0.994 NULL NULL - no_errors CXorf38 HGNC ENSG00000185753 107 0 0 54 39 41.9355 RBM10 0 genome.wustl.edu 37 X 47044527 47044527 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 47044527 47044527 C A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.2024 p.P675H 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 49 0 0 32 28 46.6667 CCNB3 0 genome.wustl.edu 37 X 50053307 50053307 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 50053307 50053307 T C SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.2138 p.L713S 0.002 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 37 0 0 18 16 47.0588 CCNB3 0 genome.wustl.edu 37 X 50054263 50054263 + Missense_Mutation SNP G G A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 50054263 50054263 G A SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3094 p.A1032T 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 111 0 0 63 53 45.6897 DGKK 0 genome.wustl.edu 37 X 50130583 50130583 + RNA SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 50130583 50130583 T C SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 41 0 0 15 23 60.5263 ENSG00000232593 0 genome.wustl.edu 37 X 53172598 53172598 + RNA SNP G G C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 53172598 53172598 G C SNP ENSG00000232593 ENST00000604849 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-258C19.5 Clone_based_vega_gene ENSG00000232593 19 0 0 4 14 77.7778 HUWE1 0 genome.wustl.edu 37 X 53586338 53586338 + Missense_Mutation SNP T T C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 53586338 53586338 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.7892 p.Q2631R 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 74 0 0 49 26 34.6667 SPIN2A 0 genome.wustl.edu 37 X 57162586 57162586 + Missense_Mutation SNP C C A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 57162586 57162586 C A SNP SPIN2A ENST00000374906 human ensembl 74_37 -1 known missense c.445 p.G149W 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2A HGNC ENSG00000147059 127 0 0 71 50 41.3223 HEPH 0 genome.wustl.edu 37 X 65413405 65413405 + Nonsense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 65413405 65413405 C T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known nonsense c.1456 p.R486* 0.086 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 67 0 0 24 21 46.6667 NHSL2 0 genome.wustl.edu 37 X 71359790 71359790 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 71359790 71359790 C T SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.2392 p.R798W 1.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 20 0 0 15 15 50 XIST 0 genome.wustl.edu 37 X 73040758 73040758 + RNA SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 73040758 73040758 C T SNP XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors XIST HGNC ENSG00000229807 71 0 0 51 37 42.0455 NAP1L3 0 genome.wustl.edu 37 X 92927070 92927070 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 92927070 92927070 C T SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.1234 p.V412I 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 24 0 0 14 8 36.3636 EIF1AY 0 genome.wustl.edu 37 Y 22741514 22741514 + Missense_Mutation SNP C C T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 Y 22741514 22741514 C T SNP EIF1AY ENST00000361365 human ensembl 74_37 +1 known missense c.37 p.R13C 1.000 superfamily_NA-bd_OB-fold pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A - no_errors EIF1AY HGNC ENSG00000198692 13 0 0 5 3 37.5 COL11A1 0 genome.wustl.edu 37 1 103474067 103474067 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 103474067 103474067 C - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.1671 p.P558fs 0.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 112 0 0 81 17 17.3469 KIF1B 0 genome.wustl.edu 37 1 10425169 10425171 + In_Frame_Del DEL AGG AGG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 10425169 10425171 AGG - DEL KIF1B ENST00000263934 human ensembl 74_37 +1 known in_frame_del c.4240_4242 p.R1416in_frame_del 1.000:1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 103 0 0 67 12 15.1899 AKNAD1 0 genome.wustl.edu 37 1 109377583 109377583 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 109377583 109377583 G - DEL AKNAD1 ENST00000370001 human ensembl 74_37 -1 known frame_shift_del c.1632 p.N545fs 0.026 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 136 0 0 84 22 20.7547 AMPD2 0 genome.wustl.edu 37 1 110167985 110167985 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 110167985 110167985 C - DEL AMPD2 ENST00000256578 human ensembl 74_37 +1 known frame_shift_del c.314 p.C107fs 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 52 0 0 48 10 17.2414 BCAS2 0 genome.wustl.edu 37 1 115118337 115118337 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 115118337 115118337 T - DEL BCAS2 ENST00000369541 human ensembl 74_37 -1 known frame_shift_del c.293 p.N98fs 1.000 pfam_SPF27 pfam_SPF27 - no_errors BCAS2 HGNC ENSG00000116752 170 0 0 121 30 19.8675 SYCP1 0 genome.wustl.edu 37 1 115430252 115430252 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 115430252 115430252 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.1196 p.N401fs 0.995 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 54 0 0 41 8 16.3265 ANKRD34A 0 genome.wustl.edu 37 1 145474257 145474258 + Frame_Shift_Del DEL CT CT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 145474257 145474258 CT - DEL ANKRD34A ENST00000323397 human ensembl 74_37 +1 known frame_shift_del c.929_930 p.R313fs 0.640:0.375 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 54 0 0 53 5 8.62069 TNR 0 genome.wustl.edu 37 1 175334334 175334334 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 175334334 175334334 G - DEL TNR ENST00000263525 human ensembl 74_37 -1 known frame_shift_del c.2399 p.P800fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 71 0 0 61 14 18.6667 TDRD5 0 genome.wustl.edu 37 1 179599927 179599928 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 179599927 179599928 - A INS TDRD5 ENST00000444136 human ensembl 74_37 +1 known frame_shift_ins c.998_999 p.L336fs 0.980:0.932 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 154 0 0 129 38 22.7545 RGL1 0 genome.wustl.edu 37 1 183881395 183881395 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 183881395 183881395 A - DEL RGL1 ENST00000304685 human ensembl 74_37 +1 known frame_shift_del c.1847 p.K618fs 0.999 NULL 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 RGL1 HGNC ENSG00000143344 96 0 0 40 11 21.5686 SWT1 0 genome.wustl.edu 37 1 185153933 185153936 + Frame_Shift_Del DEL GAAG GAAG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GAAG GAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 185153933 185153936 GAAG - DEL SWT1 ENST00000367500 human ensembl 74_37 +1 known frame_shift_del c.1299_1302 p.G436fs 1.000:1.000:0.999:0.970 smart_PIN_dom smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 191 0 0 173 22 11.2821 ZBTB41 0 genome.wustl.edu 37 1 197145703 197145703 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 197145703 197145703 T - DEL ZBTB41 ENST00000367405 human ensembl 74_37 -1 known frame_shift_del c.1870 p.I624fs 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 256 0 0 193 40 17.1674 UBE2T 0 genome.wustl.edu 37 1 202304853 202304854 + Frame_Shift_Del DEL CT CT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 202304853 202304854 CT - DEL UBE2T ENST00000367274 human ensembl 74_37 -1 known frame_shift_del c.30_29 p.E10fs 1.000:1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC ENSG00000077152 169 0 0 127 28 18.0645 GOLT1A 0 genome.wustl.edu 37 1 204170877 204170879 + In_Frame_Del DEL GAA GAA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 204170877 204170879 GAA - DEL GOLT1A ENST00000308302 human ensembl 74_37 -1 known in_frame_del c.180_178 p.F60in_frame_del 1.000:1.000:1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1A HGNC ENSG00000174567 146 0 0 107 19 15.0794 DYRK3 0 genome.wustl.edu 37 1 206821441 206821441 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 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 273 0 0 239 50 17.301 CR1L 0 genome.wustl.edu 37 1 207850873 207850873 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 207850873 207850873 A - DEL CR1L ENST00000508064 human ensembl 74_37 +1 known frame_shift_del c.237 p.N81fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 270 0 0 221 41 15.6489 RAB3GAP2 0 genome.wustl.edu 37 1 220363750 220363750 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 220363750 220363750 T - DEL RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known frame_shift_del c.1600 p.T534fs 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 162 0 0 108 26 19.403 MIA3 0 genome.wustl.edu 37 1 222802793 222802793 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 222802793 222802793 A - DEL MIA3 ENST00000344441 human ensembl 74_37 +1 known frame_shift_del c.2231 p.N746fs 0.196 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 127 0 0 102 21 17.0732 EPHX1 0 genome.wustl.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 226026384 226026384 C - DEL EPHX1 ENST00000272167 human ensembl 74_37 +1 known frame_shift_del c.394 p.Q134fs 1.000 pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 234 0 0 203 35 14.7059 TMEM63A 0 genome.wustl.edu 37 1 226034752 226034752 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 226034752 226034752 G - DEL TMEM63A ENST00000366835 human ensembl 74_37 -1 known frame_shift_del c.2413 p.Q805fs 0.750 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 66 0 0 54 11 16.9231 C1QA 0 genome.wustl.edu 37 1 22964234 22964234 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 22964234 22964234 G - DEL C1QA ENST00000374642 human ensembl 74_37 +1 known frame_shift_del c.125 p.R44fs 0.196 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QA HGNC ENSG00000173372 14 0 0 9 5 35.7143 AGT 0 genome.wustl.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 230839055 230839055 A - DEL AGT ENST00000366667 human ensembl 74_37 -1 known frame_shift_del c.1290 p.F430fs 0.354 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 141 0 0 88 21 19.2661 ARID4B 0 genome.wustl.edu 37 1 235409788 235409788 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 235409788 235409788 A - DEL ARID4B ENST00000264183 human ensembl 74_37 -1 known frame_shift_del c.393 p.F131fs 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 187 0 0 168 33 16.4179 TCEB3 0 genome.wustl.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 24078404 24078404 A - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_del c.1387 p.N465fs 0.998 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 223 0 0 114 68 37.3626 MTFR1L 0 genome.wustl.edu 37 1 26156309 26156310 + Frame_Shift_Del DEL AG AG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 26156309 26156310 AG - DEL MTFR1L ENST00000374300 human ensembl 74_37 +1 known frame_shift_del c.761_762 p.Q256fs 1.000:1.000 NULL pfam_Mtfr1 - no_errors MTFR1L HGNC ENSG00000117640 79 0 0 41 9 18 WDTC1 0 genome.wustl.edu 37 1 27622887 27622888 + Frame_Shift_Ins INS - - G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 27622887 27622888 - G INS WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_ins c.944_945 p.E317fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 217 0 0 171 29 14.5 SNHG12 0 genome.wustl.edu 37 1 28905063 28905064 + RNA INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 28905063 28905064 - T INS SNHG12 ENST00000475441 human ensembl 74_37 -1 known rna NULL NULL 0.044:0.061 - - - no_errors SNHG12 HGNC ENSG00000197989 22 0 0 13 5 27.7778 PTPRU 0 genome.wustl.edu 37 1 29638197 29638197 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 29638197 29638197 G - DEL PTPRU ENST00000345512 human ensembl 74_37 +1 known frame_shift_del c.3028 p.D1011fs 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_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 194 0 0 176 18 9.27835 SERINC2 0 genome.wustl.edu 37 1 31902257 31902257 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 31902257 31902257 C - DEL SERINC2 ENST00000373710 human ensembl 74_37 +1 known frame_shift_del c.912 p.H306fs 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 163 0 0 129 23 15.1316 HCRTR1 0 genome.wustl.edu 37 1 32084832 32084832 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 32084832 32084832 C - DEL HCRTR1 ENST00000373706 human ensembl 74_37 +1 known frame_shift_del c.39 p.P15fs 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 113 0 0 93 31 25 KIAA0319L 0 genome.wustl.edu 37 1 35919162 35919162 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 35919162 35919162 T - DEL KIAA0319L ENST00000325722 human ensembl 74_37 -1 known frame_shift_del c.1909 p.T637fs 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 220 0 0 151 40 20.9424 HIVEP3 0 genome.wustl.edu 37 1 42048809 42048809 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 42048809 42048809 G - DEL HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_del c.1660 p.H554fs 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 76 0 0 61 14 18.6667 DMBX1 0 genome.wustl.edu 37 1 46978015 46978016 + Frame_Shift_Del DEL GT GT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 46978015 46978016 GT - DEL DMBX1 ENST00000371956 human ensembl 74_37 +1 known frame_shift_del c.998_999 p.W335fs 0.997:0.904 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DMBX1 HGNC ENSG00000197587 64 0 0 55 9 14.0625 STIL 0 genome.wustl.edu 37 1 47746581 47746581 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 47746581 47746581 G - DEL STIL ENST00000371877 human ensembl 74_37 -1 known frame_shift_del c.1549 p.H517fs 0.011 NULL NULL - no_errors STIL HGNC ENSG00000123473 284 0 0 230 51 18.1495 SGIP1 0 genome.wustl.edu 37 1 67160137 67160137 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 67160137 67160137 T - DEL SGIP1 ENST00000371039 human ensembl 74_37 +1 known frame_shift_del c.989 p.Y332fs 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 46 0 0 40 7 14.8936 RERE 0 genome.wustl.edu 37 1 8420610 8420610 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 8420610 8420610 G - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.2957 p.P986fs 0.962 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 32 0 0 27 6 18.1818 CLCA4 0 genome.wustl.edu 37 1 87026013 87026013 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 87026013 87026013 A - DEL CLCA4 ENST00000370563 human ensembl 74_37 +1 known frame_shift_del c.420 p.K142fs 0.674 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 132 0 0 106 24 18.4615 GBP6 0 genome.wustl.edu 37 1 89834232 89834233 + In_Frame_Ins INS - - GGC TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 89834232 89834233 - GGC INS GBP6 ENST00000370456 human ensembl 74_37 +1 known in_frame_ins c.122_123 p.43in_frame_insA 1.000:1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 140 0 0 118 20 14.4928 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 71 0 0 74 20 21.2766 PAX2 0 genome.wustl.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 102587324 102587324 C - DEL PAX2 ENST00000428433 human ensembl 74_37 +1 known frame_shift_del c.1202 p.R403fs 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 133 0 0 94 10 9.61538 LDB1 0 genome.wustl.edu 37 10 103870407 103870407 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 103870407 103870407 C - DEL LDB1 ENST00000425280 human ensembl 74_37 -1 known frame_shift_del c.404 p.G135fs 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 66 0 0 42 21 33.3333 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 149 0 0 98 23 19.0083 TDRD1 0 genome.wustl.edu 37 10 115987018 115987018 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 115987018 115987018 A - DEL TDRD1 ENST00000251864 human ensembl 74_37 +1 known frame_shift_del c.3363 p.N1123fs 0.120 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 259 0 0 164 42 20.3883 TDRD1 0 genome.wustl.edu 37 10 115987869 115987869 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 115987869 115987869 A - DEL TDRD1 ENST00000251864 human ensembl 74_37 +1 known frame_shift_del c.3523 p.K1176fs 1.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 41 0 0 33 12 26.6667 GFRA1 0 genome.wustl.edu 37 10 117849274 117849274 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 117849274 117849274 A - DEL GFRA1 ENST00000355422 human ensembl 74_37 -1 known frame_shift_del c.1175 p.L392fs 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 291 0 0 190 54 22.1311 RAB11FIP2 0 genome.wustl.edu 37 10 119798647 119798647 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 119798647 119798647 T - DEL RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known frame_shift_del c.1101 p.D368fs 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 407 0 0 277 61 18.0473 INPP5F 0 genome.wustl.edu 37 10 121587003 121587003 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 121587003 121587003 A - DEL INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_del c.3110 p.T1039fs 0.748 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 244 0 0 181 39 17.7273 TACC2 0 genome.wustl.edu 37 10 123970380 123970380 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 123970380 123970380 C - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_del c.6440 p.P2149fs 0.908 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 242 0 0 178 37 17.2093 BTBD16 0 genome.wustl.edu 37 10 124066813 124066813 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 124066813 124066813 T - DEL BTBD16 ENST00000368994 human ensembl 74_37 +1 known frame_shift_del c.904 p.F303fs 0.904 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 212 0 0 150 46 23.4694 OPTN 0 genome.wustl.edu 37 10 13151192 13151192 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 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 160 0 0 113 19 14.3939 NMT2 0 genome.wustl.edu 37 10 15161374 15161374 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 15161374 15161374 G - DEL NMT2 ENST00000378165 human ensembl 74_37 -1 known frame_shift_del c.1138 p.R380fs 0.978 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 367 0 0 301 20 6.23053 KIAA1217 0 genome.wustl.edu 37 10 24832909 24832910 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 24832909 24832910 - A INS KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_ins c.4710_4711 p.F1572fs 1.000:1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 169 0 0 115 21 15.4412 ARHGAP12 0 genome.wustl.edu 37 10 32120692 32120692 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 32120692 32120692 T - DEL ARHGAP12 ENST00000344936 human ensembl 74_37 -1 known frame_shift_del c.1423 p.I475fs 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 96 0 0 72 18 20 ASAH2 0 genome.wustl.edu 37 10 52005194 52005194 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 52005194 52005194 A - DEL ASAH2 ENST00000395526 human ensembl 74_37 -1 known frame_shift_del c.148 p.S50fs 0.000 NULL pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 75 0 0 45 15 25 SGMS1 0 genome.wustl.edu 37 10 52103731 52103731 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 52103731 52103731 G - DEL SGMS1 ENST00000361781 human ensembl 74_37 -1 known frame_shift_del c.144 p.L49fs 0.000 superfamily_SAM/pointed,pfscan_SAM pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 145 0 0 117 17 12.6866 MBL2 0 genome.wustl.edu 37 10 54530516 54530516 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 54530516 54530516 G - DEL MBL2 ENST00000373968 human ensembl 74_37 -1 known frame_shift_del c.218 p.P73fs 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 253 0 0 153 49 24.2574 ANK3 0 genome.wustl.edu 37 10 61819650 61819651 + Frame_Shift_Ins INS - - G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 61819650 61819651 - G INS ANK3 ENST00000355288 human ensembl 74_37 -1 known frame_shift_ins c.2273_2272 p.L758fs 1.000:0.992 NULL pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors ANK3 HGNC ENSG00000151150 292 0 0 190 52 21.4876 ANK3 0 genome.wustl.edu 37 10 62149221 62149221 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 62149221 62149221 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.76 p.R26fs 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 301 0 0 266 21 7.31707 PLAU 0 genome.wustl.edu 37 10 75673438 75673438 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 75673438 75673438 G - DEL PLAU ENST00000372764 human ensembl 74_37 +1 known frame_shift_del c.602 p.G203fs 0.201 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 163 0 0 114 16 12.3077 TAF3 0 genome.wustl.edu 37 10 8006284 8006284 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 8006284 8006284 A - DEL TAF3 ENST00000344293 human ensembl 74_37 +1 known frame_shift_del c.811 p.T272fs 0.993 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 166 0 0 123 30 19.6078 LIPK 0 genome.wustl.edu 37 10 90492221 90492222 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 90492221 90492222 - T INS LIPK ENST00000404190 human ensembl 74_37 +1 known frame_shift_ins c.582_583 p.A196fs 1.000:1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPK HGNC ENSG00000204021 395 0 0 347 61 14.951 ZNF518A 0 genome.wustl.edu 37 10 97919393 97919393 + RNA DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 10 97919393 97919393 T - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ENSG00000177853 154 0 0 127 38 23.0303 MUC6 0 genome.wustl.edu 37 11 1024987 1024988 + Frame_Shift_Del DEL CC CC - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 1024987 1024988 CC - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.3082_3081 p.L1027fs 0.997:0.318 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 48 0 0 36 9 20 MMP12 0 genome.wustl.edu 37 11 102743627 102743627 + RNA DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 102743627 102743627 C - DEL MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MMP12 HGNC ENSG00000110347 39 0 0 41 10 19.6078 CASP5 0 genome.wustl.edu 37 11 104874019 104874020 + Frame_Shift_Del DEL AC AC - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 104874019 104874020 AC - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.564_563 p.C188fs 0.002:0.001 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 267 0 0 191 35 15.4867 ATM 0 genome.wustl.edu 37 11 108216477 108216477 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 108216477 108216477 A - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.8426 p.K2811fs 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 194 0 0 144 33 18.6441 DSCAML1 0 genome.wustl.edu 37 11 117651445 117651445 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 117651445 117651445 C - DEL DSCAML1 ENST00000321322 human ensembl 74_37 -1 known frame_shift_del c.307 p.V103fs 1.000 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 88 0 0 55 13 19.1176 CALCA 0 genome.wustl.edu 37 11 14991488 14991489 + Frame_Shift_Ins INS - - CT TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 14991488 14991489 - CT INS CALCA ENST00000331587 human ensembl 74_37 -1 known frame_shift_ins c.220_219 p.G73fs 0.932:0.935 pfam_Procalcitonin/adrenomedullin pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin - no_errors CALCA HGNC ENSG00000110680 183 0 0 131 13 9.02778 KRTAP5-5 0 genome.wustl.edu 37 11 1651724 1651725 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 1651724 1651725 - A INS KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known frame_shift_ins c.654_655 p.P219fs 0.999:0.998 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 124 0 0 116 26 18.3099 GTF2H1 0 genome.wustl.edu 37 11 18369475 18369475 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 18369475 18369475 A - DEL GTF2H1 ENST00000524753 human ensembl 74_37 +1 putative frame_shift_del c.450 p.K152fs 0.001 NULL pfam_BSD,pfscan_BSD - no_errors GTF2H1 HGNC ENSG00000110768 62 0 0 44 14 24.1379 NAT10 0 genome.wustl.edu 37 11 34129782 34129782 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 34129782 34129782 A - DEL NAT10 ENST00000257829 human ensembl 74_37 +1 known frame_shift_del c.10 p.K5fs 1.000 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 295 0 0 237 53 18.2759 APIP 0 genome.wustl.edu 37 11 34904909 34904909 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 34904909 34904909 C - DEL APIP ENST00000278359 human ensembl 74_37 -1 known frame_shift_del c.655 p.E219fs 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ENSG00000149089 500 0 0 418 92 18.0392 ARHGAP1 0 genome.wustl.edu 37 11 46702224 46702224 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 46702224 46702224 G - DEL ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known frame_shift_del c.709 p.L237fs 0.993 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 38 0 0 38 11 22.449 ACP2 0 genome.wustl.edu 37 11 47266285 47266285 + Splice_Site DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 47266285 47266285 C - DEL ACP2 ENST00000256997 human ensembl 74_37 -1 known splice_site_del c.772+1 e7+1 1.000 - - - no_errors ACP2 HGNC ENSG00000134575 118 0 0 84 17 16.8317 RTN3 0 genome.wustl.edu 37 11 63487620 63487620 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 63487620 63487620 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.1646 p.T551fs 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 147 0 0 110 29 20.8633 NRXN2 0 genome.wustl.edu 37 11 64427828 64427829 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 64427828 64427829 - C INS NRXN2 ENST00000265459 human ensembl 74_37 -1 known frame_shift_ins c.2365_2364 p.Q788fs 1.000:1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 131 0 0 94 14 12.963 RASGRP2 0 genome.wustl.edu 37 11 64508388 64508388 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 64508388 64508388 C - DEL RASGRP2 ENST00000377486 human ensembl 74_37 -1 putative frame_shift_del c.403 p.A135fs 0.001 NULL pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 80 0 0 51 17 25 MEN1 0 genome.wustl.edu 37 11 64572093 64572093 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 64572093 64572093 G - DEL MEN1 ENST00000337652 human ensembl 74_37 -1 known frame_shift_del c.1561 p.R521fs 0.999 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 27 0 0 25 4 13.7931 SLC25A45 0 genome.wustl.edu 37 11 65144119 65144119 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 65144119 65144119 C - DEL SLC25A45 ENST00000398802 human ensembl 74_37 -1 known frame_shift_del c.626 p.G209fs 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_carrier - no_errors SLC25A45 HGNC ENSG00000162241 108 0 0 80 15 15.7895 DRAP1 0 genome.wustl.edu 37 11 65688801 65688801 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 65688801 65688801 C - DEL DRAP1 ENST00000312515 human ensembl 74_37 +1 known frame_shift_del c.513 p.P173fs 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors DRAP1 HGNC ENSG00000175550 39 0 0 38 14 26.9231 KLC2 0 genome.wustl.edu 37 11 66033656 66033656 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 66033656 66033656 G - DEL KLC2 ENST00000316924 human ensembl 74_37 +1 known frame_shift_del c.1695 p.G567fs 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 51 0 0 33 7 17.5 OR2AG2 0 genome.wustl.edu 37 11 6789985 6789986 + Frame_Shift_Del DEL GA GA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 6789985 6789986 GA - DEL OR2AG2 ENST00000338569 human ensembl 74_37 -1 known frame_shift_del c.204_203 p.L68fs 0.006:0.023 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 OR2AG2 HGNC ENSG00000188124 235 0 0 158 35 18.1347 CTTN 0 genome.wustl.edu 37 11 70275243 70275244 + Frame_Shift_Del DEL GA GA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 70275243 70275244 GA - DEL CTTN ENST00000301843 human ensembl 74_37 +1 known frame_shift_del c.1114_1115 p.R373fs 0.993:1.000 NULL pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 94 0 0 104 7 6.30631 UVRAG 0 genome.wustl.edu 37 11 75694431 75694431 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 75694431 75694431 A - DEL UVRAG ENST00000356136 human ensembl 74_37 +1 known frame_shift_del c.700 p.S237fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 54 0 0 44 13 22.807 TENM4 0 genome.wustl.edu 37 11 78449566 78449566 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 78449566 78449566 G - DEL TENM4 ENST00000278550 human ensembl 74_37 -1 known frame_shift_del c.2806 p.L936fs 0.954 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 73 0 0 35 11 23.913 STK33 0 genome.wustl.edu 37 11 8496262 8496262 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 8496262 8496262 T - DEL STK33 ENST00000315204 human ensembl 74_37 -1 known frame_shift_del c.191 p.N64fs 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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK33 HGNC ENSG00000130413 167 0 0 102 33 24.4444 SYTL2 0 genome.wustl.edu 37 11 85435356 85435356 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 85435356 85435356 G - DEL SYTL2 ENST00000359152 human ensembl 74_37 -1 known frame_shift_del c.3716 p.P1239fs 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 283 0 0 187 38 16.8889 ZNF143 0 genome.wustl.edu 37 11 9501082 9501082 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 11 9501082 9501082 A - DEL ZNF143 ENST00000396602 human ensembl 74_37 +1 known frame_shift_del c.634 p.M214fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 160 0 0 158 31 16.4021 KLRC3 0 genome.wustl.edu 37 12 10573125 10573127 + In_Frame_Del DEL AGA AGA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 10573125 10573127 AGA - DEL KLRC3 ENST00000381903 human ensembl 74_37 -1 known in_frame_del c.25_23 p.F8in_frame_del 0.000:0.000:0.000 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC3 HGNC ENSG00000205810 224 0 0 207 12 5.47945 ENSG00000255641 0 genome.wustl.edu 37 12 10588561 10588563 + In_Frame_Del DEL AGA AGA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 10588561 10588563 AGA - DEL ENSG00000255641 ENST00000539033 human ensembl 74_37 -1 known in_frame_del c.25_23 p.F8in_frame_del 0.000:0.000:0.000 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors NKG2-E Uniprot_gn ENSG00000255641 493 0 0 390 31 7.36342 VPS29 0 genome.wustl.edu 37 12 110929816 110929816 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 110929816 110929816 T - DEL VPS29 ENST00000549578 human ensembl 74_37 -1 known frame_shift_del c.543 p.K181fs 0.998 NULL tigrfam_Phosphodiesterase_MJ0936 - no_errors VPS29 HGNC ENSG00000111237 110 0 0 93 18 16.2162 TBX5 0 genome.wustl.edu 37 12 114793736 114793736 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 114793736 114793736 G - DEL TBX5 ENST00000310346 human ensembl 74_37 -1 known frame_shift_del c.1158 p.S387fs 0.996 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 121 0 0 99 7 6.60377 TBX5 0 genome.wustl.edu 37 12 114841604 114841604 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 114841604 114841604 C - DEL TBX5 ENST00000310346 human ensembl 74_37 -1 known frame_shift_del c.100 p.A34fs 0.981 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 84 0 0 57 13 18.5714 KNTC1 0 genome.wustl.edu 37 12 123087620 123087620 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 123087620 123087620 A - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_del c.4931 p.K1646fs 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 78 0 0 40 18 31.0345 DHX37 0 genome.wustl.edu 37 12 125449022 125449024 + In_Frame_Del DEL AGG AGG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 125449022 125449024 AGG - DEL DHX37 ENST00000308736 human ensembl 74_37 -1 known in_frame_del c.1963_1961 p.S654in_frame_del 1.000:1.000:1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 92 0 0 94 14 12.963 PLEKHA5 0 genome.wustl.edu 37 12 19427575 19427575 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 19427575 19427575 A - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.953 p.K320fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 144 0 0 98 21 17.6471 PDE3A 0 genome.wustl.edu 37 12 20522723 20522723 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 20522723 20522723 G - DEL PDE3A ENST00000359062 human ensembl 74_37 +1 known frame_shift_del c.505 p.E171fs 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 38 0 0 36 3 7.69231 KLHL42 0 genome.wustl.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 27950769 27950769 G - DEL KLHL42 ENST00000381271 human ensembl 74_37 +1 known frame_shift_del c.1188 p.C399fs 0.988 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 297 0 0 257 37 12.585 FOXM1 0 genome.wustl.edu 37 12 2968136 2968136 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 2968136 2968136 G - DEL FOXM1 ENST00000342628 human ensembl 74_37 -1 known frame_shift_del c.2074 p.L692fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 144 0 0 112 25 18.2482 YAF2 0 genome.wustl.edu 37 12 42555564 42555564 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 42555564 42555564 T - DEL YAF2 ENST00000442791 human ensembl 74_37 -1 known frame_shift_del c.228 p.K76fs 0.993 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 133 0 0 86 21 19.6262 PCED1B 0 genome.wustl.edu 37 12 47628998 47628998 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 47628998 47628998 G - DEL PCED1B ENST00000432328 human ensembl 74_37 +1 known frame_shift_del c.152 p.E53fs 1.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 83 0 0 56 12 17.6471 KMT2D 0 genome.wustl.edu 37 12 49431874 49431874 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 49431874 49431874 C - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.9265 p.V3089fs 0.784 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 41 0 0 33 8 19.5122 KMT2D 0 genome.wustl.edu 37 12 49434492 49434492 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 49434492 49434492 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.7061 p.P2354fs 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 55 0 0 36 7 16.2791 DCD 0 genome.wustl.edu 37 12 55039010 55039010 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 55039010 55039010 C - DEL DCD ENST00000293371 human ensembl 74_37 -1 known frame_shift_del c.236 p.G79fs 0.000 NULL NULL - no_errors DCD HGNC ENSG00000161634 175 0 0 138 28 16.8675 OR6C75 0 genome.wustl.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 55759486 55759486 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.592 p.L200fs 0.582 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 OR6C75 HGNC ENSG00000187857 264 0 0 160 110 40.7407 SHMT2 0 genome.wustl.edu 37 12 57627077 57627077 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 57627077 57627077 G - DEL SHMT2 ENST00000328923 human ensembl 74_37 +1 known frame_shift_del c.972 p.G326fs 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 74 0 0 77 12 13.4831 GLI1 0 genome.wustl.edu 37 12 57860075 57860075 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 57860075 57860075 G - DEL GLI1 ENST00000228682 human ensembl 74_37 +1 known frame_shift_del c.815 p.G274fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 225 0 0 196 39 16.5957 MBD6 0 genome.wustl.edu 37 12 57920916 57920916 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 57920916 57920916 T - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.1988 p.F664fs 0.604 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 44 0 0 27 9 25 AGAP2 0 genome.wustl.edu 37 12 58124639 58124639 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 58124639 58124639 C - DEL AGAP2 ENST00000547588 human ensembl 74_37 -1 known frame_shift_del c.2243 p.G748fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 28 0 0 30 9 23.0769 USP15 0 genome.wustl.edu 37 12 62786091 62786091 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 62786091 62786091 A - DEL USP15 ENST00000280377 human ensembl 74_37 +1 known frame_shift_del c.2344 p.K783fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP15 HGNC ENSG00000135655 96 0 0 73 16 17.9775 VAMP1 0 genome.wustl.edu 37 12 6574049 6574052 + Frame_Shift_Del DEL TACT TACT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 TACT TACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 6574049 6574052 TACT - DEL VAMP1 ENST00000361716 human ensembl 74_37 -1 known frame_shift_del c.347_344 p.K115fs 1.000:1.000:1.000:1.000 pirsf_Synaptobrevin_met/fun pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP1 HGNC ENSG00000139190 225 0 0 215 52 19.4757 GRIP1 0 genome.wustl.edu 37 12 66839111 66839111 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 66839111 66839111 G - DEL GRIP1 ENST00000359742 human ensembl 74_37 -1 known frame_shift_del c.1532 p.P511fs 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 166 0 0 108 26 19.403 SLC6A15 0 genome.wustl.edu 37 12 85285889 85285889 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 85285889 85285889 T - DEL SLC6A15 ENST00000266682 human ensembl 74_37 -1 known frame_shift_del c.11 p.N4fs 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 242 0 0 198 32 13.913 VEZT 0 genome.wustl.edu 37 12 95650969 95650969 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 95650969 95650969 T - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.212 p.S74fs 0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 51 0 0 37 12 24.4898 WNK1 0 genome.wustl.edu 37 12 989023 989023 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 12 989023 989023 G - DEL WNK1 ENST00000530271 human ensembl 74_37 +1 known frame_shift_del c.4152 p.V1386fs 0.989 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 WNK1 HGNC ENSG00000060237 165 0 0 122 13 9.62963 COL4A1 0 genome.wustl.edu 37 13 110838821 110838821 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 110838821 110838821 G - DEL COL4A1 ENST00000375820 human ensembl 74_37 -1 known frame_shift_del c.1808 p.P603fs 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 133 0 0 137 14 9.27152 TNFRSF19 0 genome.wustl.edu 37 13 24164359 24164359 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 24164359 24164359 T - DEL TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known frame_shift_del c.37 p.F14fs 0.003 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 168 0 0 102 6 5.55556 SLC46A3 0 genome.wustl.edu 37 13 29286951 29286951 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 29286951 29286951 A - DEL SLC46A3 ENST00000266943 human ensembl 74_37 -1 known frame_shift_del c.926 p.L309fs 0.823 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 193 0 0 136 25 15.528 PDS5B 0 genome.wustl.edu 37 13 33306278 33306278 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 33306278 33306278 C - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.2164 p.R724fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 131 0 0 79 16 16.8421 ZC3H13 0 genome.wustl.edu 37 13 46543661 46543661 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 46543661 46543661 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.3018 p.K1006fs 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 235 0 0 172 34 16.5049 SERPINE3 0 genome.wustl.edu 37 13 51936041 51936041 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 51936041 51936041 T - DEL SERPINE3 ENST00000521255 human ensembl 74_37 +1 known frame_shift_del c.1183 p.F396fs 0.051 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 187 0 0 95 22 18.8034 MYCBP2 0 genome.wustl.edu 37 13 77641917 77641917 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 77641917 77641917 G - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.12254 p.P4085fs 1.000 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 359 0 0 307 84 21.4834 ABCC4 0 genome.wustl.edu 37 13 95735432 95735432 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 95735432 95735432 A - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.2648 p.L883fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom 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 158 0 0 124 26 17.3333 FARP1 0 genome.wustl.edu 37 13 99092476 99092476 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 99092476 99092476 C - DEL FARP1 ENST00000376586 human ensembl 74_37 +1 known frame_shift_del c.2709 p.P905fs 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 174 0 0 109 10 8.40336 UBAC2 0 genome.wustl.edu 37 13 99853696 99853696 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 13 99853696 99853696 T - DEL UBAC2 ENST00000376440 human ensembl 74_37 +1 known frame_shift_del c.31 p.L12fs 0.010 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC2 HGNC ENSG00000134882 76 0 0 52 9 14.7541 WARS 0 genome.wustl.edu 37 14 100820838 100820838 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 100820838 100820838 C - DEL WARS ENST00000355338 human ensembl 74_37 -1 known frame_shift_del c.488 p.G163fs 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS HGNC ENSG00000140105 136 0 0 103 38 26.9504 PPP1R13B 0 genome.wustl.edu 37 14 104208418 104208418 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 104208418 104208418 G - DEL PPP1R13B ENST00000202556 human ensembl 74_37 -1 known frame_shift_del c.1531 p.Q511fs 0.045 NULL 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 185 0 0 153 26 14.5251 KIF26A 0 genome.wustl.edu 37 14 104642560 104642560 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 104642560 104642560 C - DEL KIF26A ENST00000423312 human ensembl 74_37 +1 known frame_shift_del c.3435 p.P1147fs 0.011 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 8 0 0 5 3 37.5 C14orf180 0 genome.wustl.edu 37 14 105054103 105054103 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 105054103 105054103 C - DEL C14orf180 ENST00000410013 human ensembl 74_37 +1 known frame_shift_del c.129 p.S46fs 0.048 NULL NULL - no_errors C14orf180 HGNC ENSG00000184601 21 0 0 8 3 27.2727 INF2 0 genome.wustl.edu 37 14 105174185 105174185 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 105174185 105174185 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1581 p.V530fs 0.011 NULL 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 23 0 0 16 10 38.4615 RPGRIP1 0 genome.wustl.edu 37 14 21762941 21762942 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 21762941 21762942 - T INS RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known frame_shift_ins c.191_192 p.W65fs 0.985:0.998 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 36 0 0 35 13 27.0833 ACIN1 0 genome.wustl.edu 37 14 23549379 23549379 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 23549379 23549379 C - DEL ACIN1 ENST00000262710 human ensembl 74_37 -1 known frame_shift_del c.1339 p.A447fs 0.998 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 157 0 0 111 22 16.5414 SLC7A8 0 genome.wustl.edu 37 14 23652029 23652029 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 23652029 23652029 C - DEL SLC7A8 ENST00000316902 human ensembl 74_37 -1 known frame_shift_del c.95 p.G32fs 1.000 tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A8 HGNC ENSG00000092068 257 0 0 194 40 17.094 BNIP3P1 0 genome.wustl.edu 37 14 28733889 28733890 + RNA INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 28733889 28733890 - A INS BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.930 - - - no_errors BNIP3P1 HGNC ENSG00000197358 120 0 0 104 20 16.129 BAZ1A 0 genome.wustl.edu 37 14 35253125 35253125 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 35253125 35253125 T - DEL BAZ1A ENST00000360310 human ensembl 74_37 -1 known frame_shift_del c.1840 p.M614fs 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 140 0 0 132 27 16.9811 FANCM 0 genome.wustl.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 45642288 45642289 CT - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.2191_2192 p.S734fs 0.999:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 185 0 0 162 30 15.625 FBXO34 0 genome.wustl.edu 37 14 55818654 55818654 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 55818654 55818654 G - DEL FBXO34 ENST00000313833 human ensembl 74_37 +1 known frame_shift_del c.1546 p.G517fs 0.014 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 205 0 0 181 31 14.6226 OTX2 0 genome.wustl.edu 37 14 57271049 57271049 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 57271049 57271049 G - DEL OTX2 ENST00000339475 human ensembl 74_37 -1 known frame_shift_del c.130 p.R44fs 0.947 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 68 0 0 52 10 16.129 ARID4A 0 genome.wustl.edu 37 14 58814451 58814451 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 58814451 58814451 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.1259 p.D423fs 0.935 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 155 0 0 115 23 16.6667 KIAA0586 0 genome.wustl.edu 37 14 59014534 59014534 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 59014534 59014534 C - DEL KIAA0586 ENST00000556134 human ensembl 74_37 +1 known frame_shift_del c.4486 p.P1497fs 0.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 113 0 0 88 16 15.3846 PAPLN 0 genome.wustl.edu 37 14 73731295 73731295 + Splice_Site DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 73731295 73731295 G - DEL PAPLN ENST00000427855 human ensembl 74_37 +1 known splice_site_del c.2987-1 e21-1 0.840 - - - no_errors PAPLN HGNC ENSG00000100767 190 0 0 146 29 16.5714 BTBD7 0 genome.wustl.edu 37 14 93761193 93761193 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 14 93761193 93761193 T - DEL BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_del c.173 p.K58fs 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 338 0 0 287 87 23.262 CHSY1 0 genome.wustl.edu 37 15 101717648 101717648 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 101717648 101717648 T - DEL CHSY1 ENST00000254190 human ensembl 74_37 -1 known frame_shift_del c.2354 p.N785fs 0.999 NULL pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 126 0 0 88 12 12 OR4M2 0 genome.wustl.edu 37 15 22369024 22369024 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 22369024 22369024 G - DEL OR4M2 ENST00000332663 human ensembl 74_37 +1 putative frame_shift_del c.449 p.G152fs 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 463 1 0.215517 449 80 15.1229 SNORD115-32 0 genome.wustl.edu 37 15 25474162 25474162 + RNA DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 25474162 25474162 A - DEL SNORD115-32 ENST00000364079 human ensembl 74_37 +1 known rna NULL NULL 0.941 - - - no_errors SNORD115-32 HGNC ENSG00000200949 352 0 0 290 65 18.3099 HERC2 0 genome.wustl.edu 37 15 28525215 28525215 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 28525215 28525215 T - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.541 p.S181fs 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 132 0 0 122 28 18.6667 SPINT1 0 genome.wustl.edu 37 15 41146715 41146715 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 41146715 41146715 A - DEL SPINT1 ENST00000344051 human ensembl 74_37 +1 known frame_shift_del c.1109 p.K371fs 0.997 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT1 HGNC ENSG00000166145 87 0 0 80 9 10.1124 TP53BP1 0 genome.wustl.edu 37 15 43748303 43748304 + Frame_Shift_Del DEL AA AA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 43748303 43748304 AA - DEL TP53BP1 ENST00000382044 human ensembl 74_37 -1 known frame_shift_del c.2503_2502 p.S835fs 0.074:0.102 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 332 0 0 268 82 23.4286 DYX1C1 0 genome.wustl.edu 37 15 55759182 55759182 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 55759182 55759182 T - DEL DYX1C1 ENST00000321149 human ensembl 74_37 -1 known frame_shift_del c.583 p.I195fs 0.004 NULL pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 78 0 0 49 17 25.7576 TRIP4 0 genome.wustl.edu 37 15 64686305 64686305 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 64686305 64686305 A - DEL TRIP4 ENST00000261884 human ensembl 74_37 +1 known frame_shift_del c.262 p.D90fs 0.948 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 80 0 0 63 13 17.1053 PIAS1 0 genome.wustl.edu 37 15 68479955 68479955 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 68479955 68479955 T - DEL PIAS1 ENST00000249636 human ensembl 74_37 +1 known frame_shift_del c.1738 p.F581fs 0.998 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 144 0 0 103 33 24.2647 CYP11A1 0 genome.wustl.edu 37 15 74636221 74636221 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 74636221 74636221 G - DEL CYP11A1 ENST00000268053 human ensembl 74_37 -1 known frame_shift_del c.738 p.M247fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 205 0 0 155 35 18.4211 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 128 0 0 90 20 18.1818 PDE8A 0 genome.wustl.edu 37 15 85634360 85634360 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 85634360 85634360 A - DEL PDE8A ENST00000310298 human ensembl 74_37 +1 known frame_shift_del c.800 p.K269fs 1.000 pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 98 0 0 93 7 7 AGBL1 0 genome.wustl.edu 37 15 87531266 87531267 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 87531266 87531267 - T INS AGBL1 ENST00000441037 human ensembl 74_37 +1 known frame_shift_ins c.3132_3133 p.A1046fs 0.004:0.004 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 440 0 0 334 82 19.7115 IDH2 0 genome.wustl.edu 37 15 90631918 90631918 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 90631918 90631918 C - DEL IDH2 ENST00000330062 human ensembl 74_37 -1 known frame_shift_del c.435 p.T146fs 0.686 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 148 0 0 118 22 15.7143 IQGAP1 0 genome.wustl.edu 37 15 91019925 91019925 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 91019925 91019925 A - DEL IQGAP1 ENST00000268182 human ensembl 74_37 +1 known frame_shift_del c.2815 p.N941fs 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 219 0 0 185 55 22.9167 IGF1R 0 genome.wustl.edu 37 15 99500476 99500476 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 15 99500476 99500476 C - DEL IGF1R ENST00000268035 human ensembl 74_37 +1 known frame_shift_del c.3909 p.L1305fs 0.970 pirsf_Tyr_kinase_insulin-like_rcpt 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 39 0 0 22 2 8.33333 CLEC16A 0 genome.wustl.edu 37 16 11141159 11141159 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 11141159 11141159 T - DEL CLEC16A ENST00000409790 human ensembl 74_37 +1 known frame_shift_del c.1826 p.L611fs 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 56 0 0 39 5 11.3636 ERCC4 0 genome.wustl.edu 37 16 14042196 14042196 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 14042196 14042196 A - DEL ERCC4 ENST00000311895 human ensembl 74_37 +1 known frame_shift_del c.2743 p.K916fs 0.507 superfamily_RuvA_2-like pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 261 0 0 198 45 18.5185 MKL2 0 genome.wustl.edu 37 16 14346299 14346300 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 14346299 14346300 - C INS MKL2 ENST00000341243 human ensembl 74_37 +1 known frame_shift_ins c.2610_2611 p.R872fs 0.993:1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 84 0 0 74 5 6.32911 TMEM204 0 genome.wustl.edu 37 16 1604942 1604942 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 1604942 1604942 C - DEL TMEM204 ENST00000253934 human ensembl 74_37 +1 known frame_shift_del c.596 p.R201fs 0.995 NULL NULL - no_errors TMEM204 HGNC ENSG00000131634 57 0 0 42 4 8.69565 C16orf59 0 genome.wustl.edu 37 16 2514081 2514081 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 2514081 2514081 C - DEL C16orf59 ENST00000361837 human ensembl 74_37 +1 known frame_shift_del c.1006 p.G338fs 0.000 NULL NULL - no_errors C16orf59 HGNC ENSG00000162062 41 0 0 24 5 17.2414 CEMP1 0 genome.wustl.edu 37 16 2580785 2580785 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 2580785 2580785 G - DEL CEMP1 ENST00000382350 human ensembl 74_37 -1 known frame_shift_del c.290 p.P97fs 0.002 NULL NULL - no_errors CEMP1 HGNC ENSG00000205923 54 0 0 31 5 13.8889 KIAA0556 0 genome.wustl.edu 37 16 27751808 27751809 + Frame_Shift_Del DEL CT CT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 27751808 27751809 CT - DEL KIAA0556 ENST00000261588 human ensembl 74_37 +1 known frame_shift_del c.2190_2191 p.L732fs 0.001:0.006 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 184 0 0 163 29 15.1042 SH2B1 0 genome.wustl.edu 37 16 28878124 28878124 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 28878124 28878124 G - DEL SH2B1 ENST00000322610 human ensembl 74_37 +1 known frame_shift_del c.709 p.G238fs 0.999 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 40 0 0 29 10 25.641 PRRT2 0 genome.wustl.edu 37 16 29825016 29825016 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 29825016 29825016 C - DEL PRRT2 ENST00000567659 human ensembl 74_37 +1 known frame_shift_del c.641 p.R217fs 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 17 0 0 20 4 16.6667 DOC2A 0 genome.wustl.edu 37 16 30018527 30018529 + In_Frame_Del DEL CTT CTT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 30018527 30018529 CTT - DEL DOC2A ENST00000350119 human ensembl 74_37 -1 known in_frame_del c.621_619 p.K207in_frame_del 1.000:1.000:1.000 superfamily_C2_dom,smart_C2_dom,pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 89 0 0 74 14 15.9091 YPEL3 0 genome.wustl.edu 37 16 30106447 30106447 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 30106447 30106447 C - DEL YPEL3 ENST00000398841 human ensembl 74_37 -1 known frame_shift_del c.252 p.R85fs 0.998 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL3 HGNC ENSG00000090238 45 0 0 33 6 15.3846 BCKDK 0 genome.wustl.edu 37 16 31123292 31123292 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 31123292 31123292 C - DEL BCKDK ENST00000219794 human ensembl 74_37 +1 known frame_shift_del c.1038 p.L348fs 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 89 0 0 73 12 14.1176 PPL 0 genome.wustl.edu 37 16 4944500 4944500 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 4944500 4944500 G - DEL PPL ENST00000345988 human ensembl 74_37 -1 known frame_shift_del c.1362 p.T455fs 0.933 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 105 0 0 68 10 12.8205 CBFB 0 genome.wustl.edu 37 16 67070569 67070570 + Frame_Shift_Del DEL TC TC - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 67070569 67070570 TC - DEL CBFB ENST00000290858 human ensembl 74_37 +1 known frame_shift_del c.193_194 p.L66fs 1.000:1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 141 0 0 93 20 17.6991 PHLPP2 0 genome.wustl.edu 37 16 71748706 71748707 + Splice_Site INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 71748706 71748707 - A INS PHLPP2 ENST00000568954 human ensembl 74_37 -1 known splice_site_ins c.1-3_4 e1-2 1.000:0.943 - - - no_errors PHLPP2 HGNC ENSG00000040199 75 0 0 44 11 20 NPIPB15 0 genome.wustl.edu 37 16 74423895 74423895 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 74423895 74423895 C - DEL NPIPB15 ENST00000429990 human ensembl 74_37 +1 known frame_shift_del c.609 p.P205fs 0.024 NULL NULL - no_errors NPIPB15 HGNC ENSG00000196436 769 0 0 764 42 5.21092 NUDT7 0 genome.wustl.edu 37 16 77775744 77775744 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 77775744 77775744 A - DEL NUDT7 ENST00000268533 human ensembl 74_37 +1 known frame_shift_del c.614 p.K207fs 0.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 151 0 0 104 33 24.0876 VAT1L 0 genome.wustl.edu 37 16 77859261 77859262 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 77859261 77859262 - C INS VAT1L ENST00000302536 human ensembl 74_37 +1 known frame_shift_ins c.482_483 p.M163fs 1.000:1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 68 0 0 53 8 13.1148 ATP2C2 0 genome.wustl.edu 37 16 84492752 84492752 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 84492752 84492752 T - DEL ATP2C2 ENST00000262429 human ensembl 74_37 +1 known frame_shift_del c.2174 p.Y727fs 1.000 prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase 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_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 157 0 0 98 29 22.8346 METTL22 0 genome.wustl.edu 37 16 8722955 8722957 + In_Frame_Del DEL ATC ATC - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 16 8722955 8722957 ATC - DEL METTL22 ENST00000381920 human ensembl 74_37 +1 known in_frame_del c.502_504 p.I169in_frame_del 0.000:0.787:0.798 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 469 0 0 311 47 13.1285 MFAP4 0 genome.wustl.edu 37 17 19289686 19289686 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 19289686 19289686 G - DEL MFAP4 ENST00000395592 human ensembl 74_37 -1 known frame_shift_del c.249 p.S84fs 0.019 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 MFAP4 HGNC ENSG00000166482 49 0 0 25 8 24.2424 ALDH3A1 0 genome.wustl.edu 37 17 19641649 19641649 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 19641649 19641649 G - DEL ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known frame_shift_del c.1334 p.P445fs 0.889 superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 120 0 0 108 25 18.797 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 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 221 0 0 161 35 17.8571 UBBP4 0 genome.wustl.edu 37 17 21731489 21731489 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 21731489 21731489 C - DEL UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_del c.564 p.D191fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 80 0 0 63 8 11.2676 SLFN12L 0 genome.wustl.edu 37 17 33806619 33806620 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 33806619 33806620 - A INS SLFN12L ENST00000449046 human ensembl 74_37 -1 known frame_shift_ins c.703_702 p.N234fs 0.870:0.889 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 73 0 0 48 12 20 CDK12 0 genome.wustl.edu 37 17 37627892 37627892 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 37627892 37627892 C - DEL CDK12 ENST00000447079 human ensembl 74_37 +1 known frame_shift_del c.1807 p.P604fs 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 CDK12 HGNC ENSG00000167258 360 0 0 332 54 13.9896 WNK4 0 genome.wustl.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 40939870 40939870 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1816 p.V608fs 0.004 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 WNK4 HGNC ENSG00000126562 91 0 0 80 18 18.3673 GPATCH8 0 genome.wustl.edu 37 17 42477238 42477238 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 42477238 42477238 G - DEL GPATCH8 ENST00000591680 human ensembl 74_37 -1 known frame_shift_del c.2207 p.P736fs 0.986 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 231 0 0 154 54 25.9615 CCDC103 0 genome.wustl.edu 37 17 42979740 42979740 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 42979740 42979740 C - DEL CCDC103 ENST00000410006 human ensembl 74_37 +1 known frame_shift_del c.284 p.L97fs 0.000 NULL NULL - no_errors CCDC103 HGNC ENSG00000167131 157 0 0 130 26 16.6667 CXCL16 0 genome.wustl.edu 37 17 4638521 4638521 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 4638521 4638521 T - DEL CXCL16 ENST00000293778 human ensembl 74_37 -1 known frame_shift_del c.641 p.N214fs 0.000 NULL NULL - no_errors CXCL16 HGNC ENSG00000161921 37 0 0 32 8 20 PHB 0 genome.wustl.edu 37 17 47486482 47486483 + Frame_Shift_Del DEL CT CT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 47486482 47486483 CT - DEL PHB ENST00000300408 human ensembl 74_37 -1 known frame_shift_del c.432_431 p.E144fs 1.000:1.000 pfam_Band_7,smart_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB HGNC ENSG00000167085 65 0 0 53 8 13.1148 TAC4 0 genome.wustl.edu 37 17 47918915 47918915 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 47918915 47918915 T - DEL TAC4 ENST00000334568 human ensembl 74_37 -1 known frame_shift_del c.249 p.A84fs 0.021 NULL NULL - no_errors TAC4 HGNC ENSG00000176358 70 0 0 79 20 20.202 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 106 0 0 74 10 11.9048 C17orf64 0 genome.wustl.edu 37 17 58506875 58506875 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 58506875 58506875 C - DEL C17orf64 ENST00000269127 human ensembl 74_37 +1 known frame_shift_del c.582 p.L196fs 0.001 NULL NULL - no_errors C17orf64 HGNC ENSG00000141371 73 0 0 54 9 14.2857 AXIN2 0 genome.wustl.edu 37 17 63532585 63532585 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 63532585 63532585 C - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known frame_shift_del c.1994 p.G665fs 0.436 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 55 0 0 39 17 30.3571 ABCA10 0 genome.wustl.edu 37 17 67212448 67212448 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 67212448 67212448 A - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.582 p.F194fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 389 0 0 302 54 15.1685 TMEM102 0 genome.wustl.edu 37 17 7339229 7339229 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7339229 7339229 C - DEL TMEM102 ENST00000323206 human ensembl 74_37 +1 known frame_shift_del c.39 p.P14fs 0.988 NULL NULL - no_errors TMEM102 HGNC ENSG00000181284 65 0 0 34 6 15 TNFSF13 0 genome.wustl.edu 37 17 7462460 7462460 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7462460 7462460 G - DEL TNFSF13 ENST00000338784 human ensembl 74_37 +1 known frame_shift_del c.104 p.A37fs 1.000 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF13 HGNC ENSG00000161955 60 0 0 46 6 11.5385 CHD3 0 genome.wustl.edu 37 17 7814810 7814812 + In_Frame_Del DEL GAA GAA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 7814810 7814812 GAA - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known in_frame_del c.5910_5912 p.K1972in_frame_del 1.000:1.000:1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 196 0 0 147 24 14.0351 CARD14 0 genome.wustl.edu 37 17 78162303 78162305 + In_Frame_Del DEL AGG AGG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 78162303 78162305 AGG - DEL CARD14 ENST00000344227 human ensembl 74_37 +1 known in_frame_del c.803_805 p.E270in_frame_del 0.999:1.000:1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 84 0 0 64 10 13.5135 TSPAN10 0 genome.wustl.edu 37 17 79612317 79612317 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 79612317 79612317 G - DEL TSPAN10 ENST00000328585 human ensembl 74_37 +1 known frame_shift_del c.336 p.116fs 0.002 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 55 0 0 47 14 22.9508 ARHGEF15 0 genome.wustl.edu 37 17 8222163 8222163 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 17 8222163 8222163 C - DEL ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known frame_shift_del c.1968 p.R658fs 0.960 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 394 0 0 337 65 16.1692 RNMT 0 genome.wustl.edu 37 18 13746253 13746253 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 13746253 13746253 A - DEL RNMT ENST00000262173 human ensembl 74_37 +1 known frame_shift_del c.1174 p.T394fs 1.000 pfam_mRNA_G-N7_MeTrfase_dom,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 178 0 0 116 25 17.7305 LAMA3 0 genome.wustl.edu 37 18 21338390 21338391 + Frame_Shift_Ins INS - - G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 21338390 21338391 - G INS LAMA3 ENST00000313654 human ensembl 74_37 +1 known frame_shift_ins c.978_979 p.E327fs 0.989:1.000 smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 56 0 0 36 14 28 LAMA3 0 genome.wustl.edu 37 18 21495340 21495340 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 21495340 21495340 A - DEL LAMA3 ENST00000313654 human ensembl 74_37 +1 known frame_shift_del c.7732 p.T2580fs 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 173 0 0 125 32 20.3822 OSBPL1A 0 genome.wustl.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 21750331 21750331 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2378 p.N793fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 281 0 0 253 66 20.6897 CXXC1 0 genome.wustl.edu 37 18 47812174 47812174 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 47812174 47812174 C - DEL CXXC1 ENST00000412036 human ensembl 74_37 -1 known frame_shift_del c.584 p.G195fs 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC 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 124 0 0 84 10 10.6383 ELAC1 0 genome.wustl.edu 37 18 48510955 48510956 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 48510955 48510956 - T INS ELAC1 ENST00000591429 human ensembl 74_37 +1 putative frame_shift_ins c.647_648 p.P220fs 0.007:0.006 NULL pfam_Beta-lactamas-like - no_errors ELAC1 HGNC ENSG00000141642 64 0 0 51 10 16.3934 DYNAP 0 genome.wustl.edu 37 18 52258560 52258560 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 52258560 52258560 A - DEL DYNAP ENST00000321600 human ensembl 74_37 +1 known frame_shift_del c.125 p.N43fs 0.061 NULL NULL - no_errors DYNAP HGNC ENSG00000178690 238 0 0 173 29 14.3564 SERPINB8 0 genome.wustl.edu 37 18 61652328 61652328 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 61652328 61652328 A - DEL SERPINB8 ENST00000353706 human ensembl 74_37 +1 known frame_shift_del c.569 p.K192fs 0.750 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 106 0 0 109 18 14.1732 CDH19 0 genome.wustl.edu 37 18 64178924 64178925 + Splice_Site INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 64178924 64178925 - A INS CDH19 ENST00000262150 human ensembl 74_37 -1 known splice_site_ins c.1459-3_1459-2 e9-2 1.000:0.232 - - - no_errors CDH19 HGNC ENSG00000071991 208 0 0 174 23 11.6751 LAMA1 0 genome.wustl.edu 37 18 7015794 7015794 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 18 7015794 7015794 G - DEL LAMA1 ENST00000389658 human ensembl 74_37 -1 known frame_shift_del c.3053 p.P1018fs 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 187 0 0 130 24 15.5844 ICAM4 0 genome.wustl.edu 37 19 10397719 10397719 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 10397719 10397719 T - DEL ICAM4 ENST00000340992 human ensembl 74_37 +1 known frame_shift_del c.31 p.L13fs 0.004 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 21 0 0 10 3 23.0769 ZNF878 0 genome.wustl.edu 37 19 12155504 12155504 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 12155504 12155504 A - DEL ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_del c.853 p.S285fs 0.007 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 ZNF878 HGNC ENSG00000257446 183 0 0 200 12 5.66038 GCDH 0 genome.wustl.edu 37 19 13008601 13008601 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 13008601 13008601 G - DEL GCDH ENST00000222214 human ensembl 74_37 +1 known frame_shift_del c.1167 p.N392fs 0.996 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 156 0 0 125 16 11.3475 MED26 0 genome.wustl.edu 37 19 16686954 16686954 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 16686954 16686954 C - DEL MED26 ENST00000263390 human ensembl 74_37 -1 known frame_shift_del c.1687 p.V563fs 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 126 0 0 98 15 13.2743 CPAMD8 0 genome.wustl.edu 37 19 17081703 17081703 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 17081703 17081703 G - DEL CPAMD8 ENST00000443236 human ensembl 74_37 -1 known frame_shift_del c.2352 p.R785fs 0.962 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 70 0 0 48 9 15.7895 CRTC1 0 genome.wustl.edu 37 19 18887993 18887993 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 18887993 18887993 C - DEL CRTC1 ENST00000338797 human ensembl 74_37 +1 known frame_shift_del c.1754 p.S588fs 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 76 0 0 34 13 27.6596 ZNF66 0 genome.wustl.edu 37 19 20988745 20988745 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 20988745 20988745 A - DEL ZNF66 ENST00000344519 human ensembl 74_37 +1 known frame_shift_del c.339 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 ZNF66 HGNC ENSG00000160229 79 0 0 59 15 20.2703 TMPRSS9 0 genome.wustl.edu 37 19 2422029 2422029 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 2422029 2422029 C - DEL TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known frame_shift_del c.2230 p.S746fs 0.000 pirsf_Pept_S1A_polyserase-1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 103 0 0 76 16 17.3913 DMKN 0 genome.wustl.edu 37 19 35993771 35993771 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 35993771 35993771 G - DEL DMKN ENST00000339686 human ensembl 74_37 -1 known frame_shift_del c.1152 p.S385fs 0.926 NULL NULL - no_errors DMKN HGNC ENSG00000161249 44 0 0 53 6 10.1695 ARHGAP33 0 genome.wustl.edu 37 19 36278635 36278635 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 36278635 36278635 C - DEL ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known frame_shift_del c.3168 p.P1058fs 0.004 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 64 0 0 43 12 21.8182 ZNF570 0 genome.wustl.edu 37 19 37975957 37975958 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 37975957 37975958 - T INS ZNF570 ENST00000330173 human ensembl 74_37 +1 known frame_shift_ins c.1433_1434 p.S480fs 0.987:0.983 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 ZNF570 HGNC ENSG00000171827 170 0 0 158 40 20.202 SUPT5H 0 genome.wustl.edu 37 19 39963120 39963120 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 39963120 39963120 C - DEL SUPT5H ENST00000432763 human ensembl 74_37 +1 known frame_shift_del c.2022 p.S676fs 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 109 0 0 86 12 12.2449 DLL3 0 genome.wustl.edu 37 19 39998572 39998572 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 39998572 39998572 C - DEL DLL3 ENST00000205143 human ensembl 74_37 +1 known frame_shift_del c.1776 p.P594fs 0.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 52 0 0 77 5 6.09756 PLD3 0 genome.wustl.edu 37 19 40883965 40883965 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 40883965 40883965 G - DEL PLD3 ENST00000356508 human ensembl 74_37 +1 known frame_shift_del c.1358 p.G454fs 0.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 112 0 0 101 22 17.8862 AXL 0 genome.wustl.edu 37 19 41744385 41744385 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 41744385 41744385 C - DEL AXL ENST00000301178 human ensembl 74_37 +1 known frame_shift_del c.1005 p.P337fs 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 84 0 0 66 13 16.4557 CD79A 0 genome.wustl.edu 37 19 42383610 42383610 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 42383610 42383610 C - DEL CD79A ENST00000221972 human ensembl 74_37 +1 known frame_shift_del c.385 p.R131fs 0.007 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 13 0 0 14 6 30 CIC 0 genome.wustl.edu 37 19 42796883 42796883 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 42796883 42796883 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.3341 p.P1116fs 0.993 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 82 0 0 82 8 8.88889 TMIGD2 0 genome.wustl.edu 37 19 4298064 4298064 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 4298064 4298064 C - DEL TMIGD2 ENST00000301272 human ensembl 74_37 -1 known frame_shift_del c.325 p.A109fs 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors TMIGD2 HGNC ENSG00000167664 186 0 0 163 25 13.2979 ZNF226 0 genome.wustl.edu 37 19 44681808 44681808 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 44681808 44681808 A - DEL ZNF226 ENST00000337433 human ensembl 74_37 +1 known frame_shift_del c.2393 p.K800fs 0.382 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 ZNF226 HGNC ENSG00000167380 65 0 0 45 14 23.7288 FOXA3 0 genome.wustl.edu 37 19 46375367 46375367 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 46375367 46375367 C - DEL FOXA3 ENST00000302177 human ensembl 74_37 +1 known frame_shift_del c.104 p.L37fs 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 122 0 0 107 19 15.0794 PLEKHA4 0 genome.wustl.edu 37 19 49364680 49364681 + Frame_Shift_Ins INS - - G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 49364680 49364681 - G INS PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known frame_shift_ins c.344_343 p.R115fs 0.995:0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 101 0 0 86 14 14 ATF5 0 genome.wustl.edu 37 19 50435750 50435750 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 50435750 50435750 C - DEL ATF5 ENST00000423777 human ensembl 74_37 +1 known frame_shift_del c.250 p.G86fs 0.995 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC ENSG00000169136 49 0 0 38 8 17.3913 CACNG6 0 genome.wustl.edu 37 19 54515282 54515282 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 54515282 54515282 C - DEL CACNG6 ENST00000252729 human ensembl 74_37 +1 known frame_shift_del c.622 p.P209fs 0.007 NULL prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 62 0 0 52 12 18.75 KIR2DL3 0 genome.wustl.edu 37 19 55263199 55263199 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 55263199 55263199 A - DEL KIR2DL3 ENST00000342376 human ensembl 74_37 +1 known frame_shift_del c.814 p.N274fs 0.066 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 51 0 0 41 21 33.871 ZNF776 0 genome.wustl.edu 37 19 58264857 58264857 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 58264857 58264857 A - DEL ZNF776 ENST00000317178 human ensembl 74_37 +1 known frame_shift_del c.359 p.K122fs 0.001 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 ZNF776 HGNC ENSG00000152443 129 0 0 87 22 20.1835 SH2D3A 0 genome.wustl.edu 37 19 6754965 6754965 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 6754965 6754965 G - DEL SH2D3A ENST00000245908 human ensembl 74_37 -1 known frame_shift_del c.858 p.S287fs 0.003 superfamily_Ras_GEF_dom pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 310 0 0 285 63 18.1034 MUC16 0 genome.wustl.edu 37 19 9000456 9000457 + Frame_Shift_Del DEL CT CT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 19 9000456 9000457 CT - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.40528_40527 p.R13509fs 0.000:0.000 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 131 0 0 123 7 5.38462 FHL2 0 genome.wustl.edu 37 2 106013112 106013113 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 106013112 106013113 - A INS FHL2 ENST00000530340 human ensembl 74_37 -1 known frame_shift_ins c.298_297 p.D99fs 0.430:0.381 NULL NULL - no_errors FHL2 HGNC ENSG00000115641 62 0 0 31 12 27.907 ZC3H6 0 genome.wustl.edu 37 2 113060881 113060881 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 113060881 113060881 A - DEL ZC3H6 ENST00000343936 human ensembl 74_37 +1 known frame_shift_del c.289 p.R99fs 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 136 0 0 114 22 16.1765 ROCK2 0 genome.wustl.edu 37 2 11332385 11332385 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 11332385 11332385 T - DEL ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_del c.4052 p.K1351fs 1.000 smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 457 0 0 346 92 21.0046 ROCK2 0 genome.wustl.edu 37 2 11389837 11389837 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 11389837 11389837 A - DEL ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_del c.412 p.W138fs 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_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 287 0 0 243 58 19.2691 WDR33 0 genome.wustl.edu 37 2 128477655 128477655 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 128477655 128477655 C - DEL WDR33 ENST00000322313 human ensembl 74_37 -1 known frame_shift_del c.1944 p.P649fs 0.997 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 90 0 0 49 13 20.9677 POTEJ 0 genome.wustl.edu 37 2 131414399 131414399 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 131414399 131414399 C - DEL POTEJ ENST00000409602 human ensembl 74_37 +1 novel frame_shift_del c.2066 p.R691fs 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 177 0 0 150 22 12.7907 MCM6 0 genome.wustl.edu 37 2 136610462 136610462 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 136610462 136610462 C - DEL MCM6 ENST00000264156 human ensembl 74_37 -1 known frame_shift_del c.1650 p.R550fs 0.926 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 158 0 0 107 23 17.6923 LRP1B 0 genome.wustl.edu 37 2 141032034 141032034 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 141032034 141032034 C - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.13101 p.H4368fs 0.016 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 217 0 0 122 28 18.6667 KYNU 0 genome.wustl.edu 37 2 143713778 143713778 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 143713778 143713778 T - DEL KYNU ENST00000264170 human ensembl 74_37 +1 known frame_shift_del c.442 p.F149fs 0.997 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 104 0 0 82 24 22.6415 KCNJ3 0 genome.wustl.edu 37 2 155711297 155711297 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 155711297 155711297 T - DEL KCNJ3 ENST00000295101 human ensembl 74_37 +1 known frame_shift_del c.978 p.P329fs 0.995 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 198 0 0 169 30 15.0754 MYCN 0 genome.wustl.edu 37 2 16082314 16082314 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 16082314 16082314 C - DEL MYCN ENST00000281043 human ensembl 74_37 +1 known frame_shift_del c.128 p.P45fs 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 33 0 0 37 3 7.5 COBLL1 0 genome.wustl.edu 37 2 165578962 165578962 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 165578962 165578962 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.930 p.Q311fs 0.999 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 202 0 0 127 25 16.4474 NOSTRIN 0 genome.wustl.edu 37 2 169699563 169699563 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 169699563 169699563 A - DEL NOSTRIN ENST00000444448 human ensembl 74_37 +1 known frame_shift_del c.566 p.N191fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 112 0 0 87 29 25 LRP2 0 genome.wustl.edu 37 2 170127462 170127462 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 170127462 170127462 A - DEL LRP2 ENST00000263816 human ensembl 74_37 -1 known frame_shift_del c.2272 p.S758fs 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 118 0 0 84 14 14.2857 PPIG 0 genome.wustl.edu 37 2 170460581 170460581 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 170460581 170460581 T - DEL PPIG ENST00000260970 human ensembl 74_37 +1 known frame_shift_del c.30 p.F12fs 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 165 0 0 138 31 18.3432 ITGA6 0 genome.wustl.edu 37 2 173335733 173335733 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 173335733 173335733 T - DEL ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_del c.675 p.F227fs 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 184 0 0 158 23 12.7072 ATF2 0 genome.wustl.edu 37 2 175982979 175982979 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 175982979 175982979 T - DEL ATF2 ENST00000264110 human ensembl 74_37 -1 known frame_shift_del c.318 p.M107fs 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF2 HGNC ENSG00000115966 84 0 0 60 11 15.493 TTN 0 genome.wustl.edu 37 2 179424814 179424814 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 179424814 179424814 G - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.78341 p.P26114fs 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 127 0 0 85 20 19.0476 BMPR2 0 genome.wustl.edu 37 2 203384859 203384859 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 203384859 203384859 C - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.902 p.S301fs 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 - no_errors BMPR2 HGNC ENSG00000204217 114 0 0 91 17 15.7407 PARD3B 0 genome.wustl.edu 37 2 206166298 206166298 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 206166298 206166298 A - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.2503 p.T837fs 0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 141 0 0 115 22 16.0584 PSMD1 0 genome.wustl.edu 37 2 231931680 231931680 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 231931680 231931680 A - DEL PSMD1 ENST00000308696 human ensembl 74_37 +1 known frame_shift_del c.365 p.K124fs 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 67 0 0 48 7 12.7273 PTMA 0 genome.wustl.edu 37 2 232576065 232576067 + In_Frame_Del DEL AGG AGG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 232576065 232576067 AGG - DEL PTMA ENST00000341369 human ensembl 74_37 +1 known in_frame_del c.53_55 p.E19in_frame_del 1.000:1.000:1.000 pfam_Pro/parathymosin pfam_Pro/parathymosin - no_errors PTMA HGNC ENSG00000187514 99 0 0 94 23 19.6581 USP40 0 genome.wustl.edu 37 2 234394237 234394237 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 234394237 234394237 T - DEL USP40 ENST00000450966 human ensembl 74_37 -1 known frame_shift_del c.3477 p.K1159fs 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 85 0 0 50 13 20.6349 TRPM8 0 genome.wustl.edu 37 2 234858731 234858731 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 234858731 234858731 T - DEL TRPM8 ENST00000324695 human ensembl 74_37 +1 known frame_shift_del c.1081 p.L362fs 0.993 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 66 0 0 59 7 10.6061 GPR113 0 genome.wustl.edu 37 2 26534413 26534413 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 26534413 26534413 C - DEL GPR113 ENST00000333478 human ensembl 74_37 -1 known frame_shift_del c.1586 p.G529fs 0.991 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 124 0 0 80 16 16.6667 AGBL5 0 genome.wustl.edu 37 2 27278901 27278901 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 27278901 27278901 C - DEL AGBL5 ENST00000360131 human ensembl 74_37 +1 known frame_shift_del c.1260 p.K423fs 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 314 0 0 249 70 21.9436 ALK 0 genome.wustl.edu 37 2 29416400 29416400 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 29416400 29416400 T - DEL ALK ENST00000389048 human ensembl 74_37 -1 known frame_shift_del c.4553 p.K1518fs 0.979 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 332 0 0 250 52 17.2185 THADA 0 genome.wustl.edu 37 2 43625164 43625164 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 43625164 43625164 G - DEL THADA ENST00000405006 human ensembl 74_37 -1 known frame_shift_del c.4173 p.S1392fs 0.026 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 215 0 0 130 36 21.6867 PPM1B 0 genome.wustl.edu 37 2 44428501 44428501 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 44428501 44428501 T - DEL PPM1B ENST00000282412 human ensembl 74_37 +1 known frame_shift_del c.163 p.F56fs 0.999 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 339 0 0 231 64 21.6949 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 316 0 0 226 37 14.0684 BCL11A 0 genome.wustl.edu 37 2 60689254 60689254 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 60689254 60689254 G - DEL BCL11A ENST00000335712 human ensembl 74_37 -1 known frame_shift_del c.793 p.L265fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 89 0 0 81 18 18.1818 EHBP1 0 genome.wustl.edu 37 2 63176136 63176136 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 63176136 63176136 A - DEL EHBP1 ENST00000263991 human ensembl 74_37 +1 known frame_shift_del c.2260 p.T756fs 0.401 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 149 0 0 116 33 22.1477 WDPCP 0 genome.wustl.edu 37 2 63664576 63664576 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 63664576 63664576 T - DEL WDPCP ENST00000272321 human ensembl 74_37 -1 known frame_shift_del c.612 p.K204fs 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 99 0 0 75 18 19.3548 CD207 0 genome.wustl.edu 37 2 71060135 71060136 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 71060135 71060136 - C INS CD207 ENST00000410009 human ensembl 74_37 -1 known frame_shift_ins c.613_612 p.N204fs 0.879:0.799 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC ENSG00000116031 101 0 0 83 17 17 MCEE 0 genome.wustl.edu 37 2 71337212 71337212 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 71337212 71337212 T - DEL MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 114 0 0 98 25 20.3252 MRPS5 0 genome.wustl.edu 37 2 95753233 95753233 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 95753233 95753233 G - DEL MRPS5 ENST00000272418 human ensembl 74_37 -1 known frame_shift_del c.1162 p.R388fs 0.000 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 128 0 0 79 11 12.2222 NCAPH 0 genome.wustl.edu 37 2 97008988 97008988 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 2 97008988 97008988 G - DEL NCAPH ENST00000240423 human ensembl 74_37 +1 known frame_shift_del c.541 p.L183fs 1.000 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 96 0 0 70 17 19.5402 SPTLC3 0 genome.wustl.edu 37 20 13140674 13140675 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 13140674 13140675 - A INS SPTLC3 ENST00000399002 human ensembl 74_37 +1 known frame_shift_ins c.1440_1441 p.I482fs 0.816:0.978 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 239 0 0 129 27 17.3077 DEFB129 0 genome.wustl.edu 37 20 210188 210188 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 210188 210188 T - DEL DEFB129 ENST00000246105 human ensembl 74_37 +1 known frame_shift_del c.328 p.F111fs 0.000 NULL NULL - no_errors DEFB129 HGNC ENSG00000125903 206 0 0 148 34 18.6813 VSX1 0 genome.wustl.edu 37 20 25059455 25059455 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 25059455 25059455 C - DEL VSX1 ENST00000376707 human ensembl 74_37 -1 known frame_shift_del c.637 p.V213fs 0.001 smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VSX1 HGNC ENSG00000100987 318 0 0 206 42 16.9355 NCOA6 0 genome.wustl.edu 37 20 33331070 33331070 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 33331070 33331070 G - DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known frame_shift_del c.2990 p.P997fs 0.999 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 85 0 0 72 7 8.86076 MYH7B 0 genome.wustl.edu 37 20 33582173 33582175 + In_Frame_Del DEL AGA AGA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 33582173 33582175 AGA - DEL MYH7B ENST00000262873 human ensembl 74_37 +1 novel in_frame_del c.2795_2797 p.K933in_frame_del 1.000:1.000:1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 43 0 0 22 7 24.1379 SRC 0 genome.wustl.edu 37 20 36022344 36022344 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 36022344 36022344 G - DEL SRC ENST00000360723 human ensembl 74_37 +1 known frame_shift_del c.415 p.G139fs 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain 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 SRC HGNC ENSG00000197122 24 0 0 21 7 25 SGK2 0 genome.wustl.edu 37 20 42195105 42195105 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 42195105 42195105 C - DEL SGK2 ENST00000341458 human ensembl 74_37 +1 known frame_shift_del c.150 p.P52fs 0.244 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,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 SGK2 HGNC ENSG00000101049 179 0 0 98 17 14.7826 PIGT 0 genome.wustl.edu 37 20 44050026 44050026 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 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 58 0 0 36 9 20 CTSA 0 genome.wustl.edu 37 20 44523668 44523668 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 44523668 44523668 C - DEL CTSA ENST00000372484 human ensembl 74_37 +1 known frame_shift_del c.1038 p.C349fs 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 61 0 0 38 7 15.5556 SLC12A5 0 genome.wustl.edu 37 20 44673727 44673727 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 44673727 44673727 C - DEL SLC12A5 ENST00000454036 human ensembl 74_37 +1 known frame_shift_del c.1586 p.P530fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 201 0 0 135 20 12.9032 KCNB1 0 genome.wustl.edu 37 20 47989891 47989891 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 47989891 47989891 G - DEL KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_del c.2206 p.R736fs 1.000 prints_K_chnl_volt-dep_Kv2.1 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 245 0 0 163 25 13.2979 CBLN4 0 genome.wustl.edu 37 20 54579052 54579052 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 54579052 54579052 G - DEL CBLN4 ENST00000064571 human ensembl 74_37 -1 known frame_shift_del c.176 p.P59fs 1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 167 0 0 101 14 12.1739 C20orf85 0 genome.wustl.edu 37 20 56735727 56735727 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 56735727 56735727 C - DEL C20orf85 ENST00000371168 human ensembl 74_37 +1 known frame_shift_del c.263 p.P90fs 0.687 NULL NULL - no_errors C20orf85 HGNC ENSG00000124237 56 0 0 44 10 18.5185 NPEPL1 0 genome.wustl.edu 37 20 57290340 57290340 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 57290340 57290340 G - DEL NPEPL1 ENST00000356091 human ensembl 74_37 +1 known frame_shift_del c.1530 p.D512fs 0.131 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 22 0 0 9 6 40 NELFCD 0 genome.wustl.edu 37 20 57564987 57564987 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 20 57564987 57564987 G - DEL NELFCD ENST00000602795 human ensembl 74_37 +1 known frame_shift_del c.786 p.G264fs 0.965 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 113 0 0 62 16 20.5128 DOPEY2 0 genome.wustl.edu 37 21 37605286 37605286 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 37605286 37605286 T - DEL DOPEY2 ENST00000399151 human ensembl 74_37 +1 known frame_shift_del c.2535 p.F847fs 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 195 0 0 162 45 21.7391 UBASH3A 0 genome.wustl.edu 37 21 43864692 43864692 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 43864692 43864692 C - DEL UBASH3A ENST00000319294 human ensembl 74_37 +1 known frame_shift_del c.1787 p.T596fs 0.974 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 255 0 0 193 17 8.09524 TRAPPC10 0 genome.wustl.edu 37 21 45504083 45504083 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 45504083 45504083 C - DEL TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known frame_shift_del c.2319 p.I775fs 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 56 0 0 53 10 15.873 KRTAP10-5 0 genome.wustl.edu 37 21 45999955 45999955 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 45999955 45999955 G - DEL KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known frame_shift_del c.501 p.C168fs 0.068 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 260 0 0 233 58 19.9313 COL18A1 0 genome.wustl.edu 37 21 46888199 46888199 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 46888199 46888199 C - DEL COL18A1 ENST00000359759 human ensembl 74_37 +1 known frame_shift_del c.1395 p.P467fs 0.997 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 80 0 0 52 9 14.7541 COL18A1 0 genome.wustl.edu 37 21 46900038 46900038 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 46900038 46900038 C - DEL COL18A1 ENST00000359759 human ensembl 74_37 +1 known frame_shift_del c.2611 p.P872fs 0.912 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 45 0 0 33 6 15.3846 PCNT 0 genome.wustl.edu 37 21 47754333 47754334 + Frame_Shift_Del DEL AG AG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 21 47754333 47754334 AG - DEL PCNT ENST00000359568 human ensembl 74_37 +1 known frame_shift_del c.290_291 p.E99fs 0.011:0.008 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 131 0 0 97 21 17.7966 MTMR3 0 genome.wustl.edu 37 22 30415990 30415991 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 30415990 30415991 - C INS MTMR3 ENST00000401950 human ensembl 74_37 +1 known frame_shift_ins c.2342_2343 p.R784fs 0.003:0.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 219 0 0 192 36 15.7895 PRR14L 0 genome.wustl.edu 37 22 32108311 32108311 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 32108311 32108311 T - DEL PRR14L ENST00000397493 human ensembl 74_37 -1 known frame_shift_del c.5514 p.K1838fs 1.000 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 87 0 0 78 14 15.2174 RANGAP1 0 genome.wustl.edu 37 22 41650427 41650429 + In_Frame_Del DEL TCC TCC - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 41650427 41650429 TCC - DEL RANGAP1 ENST00000356244 human ensembl 74_37 -1 known in_frame_del c.1145_1143 p.E382in_frame_del 0.125:0.126:0.055 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 107 0 0 69 13 15.8537 TCF20 0 genome.wustl.edu 37 22 42564716 42564717 + Frame_Shift_Del DEL GG GG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 42564716 42564717 GG - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_del c.5826_5825 p.P1942fs 1.000:1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 36 0 0 31 6 16.2162 ARFGAP3 0 genome.wustl.edu 37 22 43218401 43218401 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 43218401 43218401 T - DEL ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known frame_shift_del c.687 p.G230fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 310 0 0 275 54 16.4134 TBC1D22A 0 genome.wustl.edu 37 22 47188444 47188444 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 47188444 47188444 C - DEL TBC1D22A ENST00000337137 human ensembl 74_37 +1 known frame_shift_del c.90 p.F33fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 164 0 0 125 34 21.3836 ZBED4 0 genome.wustl.edu 37 22 50279276 50279276 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 50279276 50279276 A - DEL ZBED4 ENST00000216268 human ensembl 74_37 +1 known frame_shift_del c.1966 p.I658fs 1.000 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 142 0 0 106 25 19.084 NCAPH2 0 genome.wustl.edu 37 22 50961502 50961502 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 22 50961502 50961502 C - DEL NCAPH2 ENST00000299821 human ensembl 74_37 +1 known frame_shift_del c.1587 p.Q531fs 0.762 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 46 0 0 22 5 18.5185 SEC13 0 genome.wustl.edu 37 3 10357003 10357004 + Splice_Site INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 10357003 10357004 - C INS SEC13 ENST00000350697 human ensembl 74_37 -1 known splice_site_ins c.164+1_164+1 e3+1 1.000:1.000 - - - no_errors SEC13 HGNC ENSG00000157020 57 0 0 41 19 31.6667 SLC9C1 0 genome.wustl.edu 37 3 111923223 111923223 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 111923223 111923223 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.2014 p.S672fs 0.503 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 314 0 0 253 49 16.2252 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 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 124 0 0 98 18 15.5172 TPRA1 0 genome.wustl.edu 37 3 127294786 127294788 + In_Frame_Del DEL GAA GAA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 127294786 127294788 GAA - DEL TPRA1 ENST00000355552 human ensembl 74_37 -1 known in_frame_del c.606_604 p.F202in_frame_del 1.000:1.000:1.000 pfam_Uncharacterised_TM-40 pfam_Uncharacterised_TM-40 - no_errors TPRA1 HGNC ENSG00000163870 64 0 0 37 6 13.9535 CNTN6 0 genome.wustl.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 1371501 1371501 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246 p.K418fs 0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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 CNTN6 HGNC ENSG00000134115 185 0 0 145 56 27.8607 FAIM 0 genome.wustl.edu 37 3 138340266 138340266 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 138340266 138340266 A - DEL FAIM ENST00000338446 human ensembl 74_37 +1 known frame_shift_del c.98 p.M35fs 0.997 pfam_FAIM pfam_FAIM - no_errors FAIM HGNC ENSG00000158234 212 0 0 157 47 23.0392 EIF2A 0 genome.wustl.edu 37 3 150289746 150289746 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 150289746 150289746 A - DEL EIF2A ENST00000460851 human ensembl 74_37 +1 known frame_shift_del c.813 p.N273fs 0.958 pfam_TIF_beta_prop-like,pirsf_TIF2A pfam_TIF_beta_prop-like,pirsf_TIF2A - no_errors EIF2A HGNC ENSG00000144895 84 0 0 81 7 7.95455 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 15084406 15084406 T - DEL NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_del c.1739 p.F582fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 73 0 0 81 7 7.95455 ANKRD28 0 genome.wustl.edu 37 3 15756165 15756166 + Splice_Site INS - - G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 15756165 15756166 - G INS ANKRD28 ENST00000383777 human ensembl 74_37 -1 known splice_site_ins c.1006-3_1006-2 e9-2 1.000:0.998 - - - no_errors ANKRD28 HGNC ENSG00000206560 42 0 0 37 13 26 SLITRK3 0 genome.wustl.edu 37 3 164906625 164906625 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 164906625 164906625 A - DEL SLITRK3 ENST00000241274 human ensembl 74_37 -1 known frame_shift_del c.1994 p.F665fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 53 0 0 29 15 34.0909 FNDC3B 0 genome.wustl.edu 37 3 172096209 172096210 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 172096209 172096210 - C INS FNDC3B ENST00000336824 human ensembl 74_37 +1 known frame_shift_ins c.3158_3159 p.T1056fs 0.971:0.958 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 92 0 0 81 10 10.989 ATP11B 0 genome.wustl.edu 37 3 182602674 182602674 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 182602674 182602674 T - DEL ATP11B ENST00000323116 human ensembl 74_37 +1 known frame_shift_del c.2643 p.Y884fs 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP11B HGNC ENSG00000058063 156 0 0 155 14 8.28402 KCNH8 0 genome.wustl.edu 37 3 19554727 19554728 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 19554727 19554728 - C INS KCNH8 ENST00000328405 human ensembl 74_37 +1 known frame_shift_ins c.2345_2346 p.N785fs 0.511:0.020 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 147 0 0 160 14 8.04598 SDHAP1 0 genome.wustl.edu 37 3 195709193 195709193 + RNA DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 195709193 195709193 A - DEL SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 0.759 - - - no_errors SDHAP1 HGNC ENSG00000185485 103 0 0 111 9 7.5 HMGB1P5 0 genome.wustl.edu 37 3 22423968 22423968 + RNA DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 22423968 22423968 T - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 66 0 0 53 17 24.2857 MLH1 0 genome.wustl.edu 37 3 37053550 37053550 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 37053550 37053550 G - DEL MLH1 ENST00000231790 human ensembl 74_37 +1 known frame_shift_del c.637 p.V213fs 0.999 superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 223 0 0 116 54 31.7647 SCN11A 0 genome.wustl.edu 37 3 38949543 38949543 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 38949543 38949543 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1370 p.K457fs 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 235 0 0 142 96 40.3361 COL7A1 0 genome.wustl.edu 37 3 48602622 48602622 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 48602622 48602622 G - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.8540 p.P2847fs 0.986 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 46 0 0 40 21 34.4262 AMT 0 genome.wustl.edu 37 3 49456495 49456495 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 49456495 49456495 G - DEL AMT ENST00000273588 human ensembl 74_37 -1 known frame_shift_del c.786 p.D262fs 1.000 pfam_GCV_T_N,pirsf_GcvT,tigrfam_GcvT pfam_GCV_T_N,pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT - no_errors AMT HGNC ENSG00000145020 67 0 0 39 6 13.3333 GLYCTK 0 genome.wustl.edu 37 3 52325906 52325906 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 52325906 52325906 G - DEL GLYCTK ENST00000436784 human ensembl 74_37 +1 known frame_shift_del c.673 p.L227fs 1.000 NULL pfam_MOFRL - no_errors GLYCTK HGNC ENSG00000168237 133 0 0 104 9 7.9646 SUCLG2 0 genome.wustl.edu 37 3 67570954 67570955 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 3 67570954 67570955 - C INS SUCLG2 ENST00000307227 human ensembl 74_37 -1 known frame_shift_ins c.522_521 p.V175fs 0.018:1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 205 0 0 151 26 14.6893 TET2 0 genome.wustl.edu 37 4 106157548 106157549 + Frame_Shift_Ins INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 106157548 106157549 - C INS TET2 ENST00000380013 human ensembl 74_37 +1 known frame_shift_ins c.2449_2450 p.Y819fs 0.003:0.003 NULL NULL - no_errors TET2 HGNC ENSG00000168769 126 0 0 106 29 21.4815 BBS12 0 genome.wustl.edu 37 4 123663971 123663972 + Frame_Shift_Del DEL TA TA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 123663971 123663972 TA - DEL BBS12 ENST00000314218 human ensembl 74_37 +1 known frame_shift_del c.924_925 p.M309fs 0.000:0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 112 0 0 104 34 24.6377 PHF17 0 genome.wustl.edu 37 4 129783017 129783017 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 129783017 129783017 G - DEL PHF17 ENST00000226319 human ensembl 74_37 +1 known frame_shift_del c.1140 p.A382fs 0.057 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 162 0 0 120 18 13.0435 SCOC 0 genome.wustl.edu 37 4 141264811 141264813 + In_Frame_Del DEL GAG GAG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 141264811 141264813 GAG - DEL SCOC ENST00000338517 human ensembl 74_37 +1 known in_frame_del c.19_21 p.E10in_frame_del 0.996:0.996:0.998 NULL pfam_DUF2205_coiled-coil - no_errors SCOC HGNC ENSG00000153130 70 0 0 45 6 11.7647 HHIP 0 genome.wustl.edu 37 4 145655985 145655985 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 145655985 145655985 C - DEL HHIP ENST00000296575 human ensembl 74_37 +1 known frame_shift_del c.1853 p.T620fs 1.000 smart_EG-like_dom pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 109 0 0 78 18 18.75 PET112 0 genome.wustl.edu 37 4 152679951 152679951 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 152679951 152679951 A - DEL PET112 ENST00000263985 human ensembl 74_37 -1 known frame_shift_del c.300 p.F100fs 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 206 0 0 148 41 21.6931 SFRP2 0 genome.wustl.edu 37 4 154709525 154709525 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 154709525 154709525 G - DEL SFRP2 ENST00000274063 human ensembl 74_37 -1 known frame_shift_del c.463 p.L155fs 1.000 superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 96 0 0 65 22 25.2874 CC2D2A 0 genome.wustl.edu 37 4 15601156 15601157 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 15601156 15601157 - A INS CC2D2A ENST00000413206 human ensembl 74_37 +1 known frame_shift_ins c.4501_4502 p.I1503fs 1.000:1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 30 0 0 21 7 25 TDO2 0 genome.wustl.edu 37 4 156824926 156824926 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 156824926 156824926 T - DEL TDO2 ENST00000536354 human ensembl 74_37 +1 known frame_shift_del c.16 p.L7fs 0.100 NULL pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 214 0 0 161 39 19.5 SH3RF1 0 genome.wustl.edu 37 4 170057551 170057551 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 170057551 170057551 G - DEL SH3RF1 ENST00000284637 human ensembl 74_37 -1 known frame_shift_del c.986 p.P329fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 327 0 0 279 53 15.9639 GPR125 0 genome.wustl.edu 37 4 22394224 22394224 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 22394224 22394224 T - DEL GPR125 ENST00000334304 human ensembl 74_37 -1 known frame_shift_del c.2571 p.A858fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 215 0 0 152 37 19.5767 HTT 0 genome.wustl.edu 37 4 3237477 3237477 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 3237477 3237477 G - DEL HTT ENST00000355072 human ensembl 74_37 +1 known frame_shift_del c.8757 p.G2920fs 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 50 0 0 22 8 26.6667 TLR1 0 genome.wustl.edu 37 4 38798148 38798148 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 38798148 38798148 A - DEL TLR1 ENST00000308979 human ensembl 74_37 -1 known frame_shift_del c.2305 p.W769fs 1.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 134 0 0 82 32 28.0702 MFSD7 0 genome.wustl.edu 37 4 678571 678571 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 678571 678571 G - DEL MFSD7 ENST00000404286 human ensembl 74_37 -1 known frame_shift_del c.660 p.T221fs 0.983 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 36 0 0 31 6 16.2162 UGT2B17 0 genome.wustl.edu 37 4 69433933 69433933 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 69433933 69433933 A - DEL UGT2B17 ENST00000317746 human ensembl 74_37 -1 known frame_shift_del c.270 p.F90fs 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 236 0 0 195 56 22.3108 MOB1B 0 genome.wustl.edu 37 4 71844995 71844995 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 71844995 71844995 T - DEL MOB1B ENST00000309395 human ensembl 74_37 +1 known frame_shift_del c.560 p.F189fs 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1B HGNC ENSG00000173542 232 0 0 209 45 17.7165 CPLX1 0 genome.wustl.edu 37 4 786350 786352 + In_Frame_Del DEL CTT CTT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 786350 786352 CTT - DEL CPLX1 ENST00000304062 human ensembl 74_37 -1 known in_frame_del c.78_76 p.K26in_frame_del 1.000:1.000:1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX1 HGNC ENSG00000168993 86 0 0 68 16 19.0476 GAK 0 genome.wustl.edu 37 4 887700 887700 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 887700 887700 G - DEL GAK ENST00000314167 human ensembl 74_37 -1 known frame_shift_del c.839 p.P280fs 0.001 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_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 59 0 0 43 4 8.51064 SMARCAD1 0 genome.wustl.edu 37 4 95173909 95173910 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 4 95173909 95173910 - A INS SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known frame_shift_ins c.1032_1033 p.N346fs 0.996:1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 86 0 0 65 20 23.5294 SLCO6A1 0 genome.wustl.edu 37 5 101748695 101748695 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 101748695 101748695 T - DEL SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known frame_shift_del c.1625 p.K542fs 0.982 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 32 0 0 19 7 26.9231 NUDT12 0 genome.wustl.edu 37 5 102895013 102895013 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 102895013 102895013 A - DEL NUDT12 ENST00000230792 human ensembl 74_37 -1 known frame_shift_del c.363 p.F121fs 1.000 NULL pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 180 0 0 155 29 15.7609 APC 0 genome.wustl.edu 37 5 112177864 112177864 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 112177864 112177864 A - DEL APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_del c.6573 p.V2194fs 0.189 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 138 0 0 120 25 17.2414 AQPEP 0 genome.wustl.edu 37 5 115361762 115361762 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 115361762 115361762 A - DEL AQPEP ENST00000357872 human ensembl 74_37 +1 known frame_shift_del c.2920 p.N975fs 0.120 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 102 0 0 68 20 22.7273 RAPGEF6 0 genome.wustl.edu 37 5 130782332 130782332 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 130782332 130782332 T - DEL RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known frame_shift_del c.3265 p.R1089fs 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 311 0 0 239 55 18.7075 TCF7 0 genome.wustl.edu 37 5 133478536 133478538 + In_Frame_Del DEL AAG AAG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 133478536 133478538 AAG - DEL TCF7 ENST00000321584 human ensembl 74_37 +1 known in_frame_del c.880_882 p.K294in_frame_del 1.000:1.000:1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 151 0 0 127 28 18.0645 KDM3B 0 genome.wustl.edu 37 5 137756625 137756625 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 137756625 137756625 C - DEL KDM3B ENST00000314358 human ensembl 74_37 +1 known frame_shift_del c.3946 p.P1317fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 225 0 0 168 43 20.3791 EGR1 0 genome.wustl.edu 37 5 137803132 137803132 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 137803132 137803132 C - DEL EGR1 ENST00000239938 human ensembl 74_37 +1 known frame_shift_del c.994 p.H334fs 1.000 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 154 0 0 137 16 10.4575 CTNNA1 0 genome.wustl.edu 37 5 138253516 138253516 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 138253516 138253516 A - DEL CTNNA1 ENST00000302763 human ensembl 74_37 +1 known frame_shift_del c.1475 p.K493fs 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 546 0 0 443 105 19.1606 CTNNA1 0 genome.wustl.edu 37 5 138260955 138260955 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 138260955 138260955 T - DEL CTNNA1 ENST00000302763 human ensembl 74_37 +1 known frame_shift_del c.1758 p.F587fs 0.844 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 86 0 0 67 13 16.25 PCDHGA8 0 genome.wustl.edu 37 5 140773871 140773871 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 140773871 140773871 G - DEL PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known frame_shift_del c.1491 p.A499fs 0.017 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 PCDHGA8 HGNC ENSG00000253767 68 0 0 40 8 16.6667 SH3RF2 0 genome.wustl.edu 37 5 145439558 145439558 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 145439558 145439558 C - DEL SH3RF2 ENST00000359120 human ensembl 74_37 +1 known frame_shift_del c.1685 p.S564fs 0.008 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 82 0 0 84 12 12.5 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain 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 208 0 0 164 41 20 PANK3 0 genome.wustl.edu 37 5 167991059 167991059 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 167991059 167991059 C - DEL PANK3 ENST00000239231 human ensembl 74_37 -1 known frame_shift_del c.647 p.G216fs 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 327 0 0 291 30 9.34579 SH3PXD2B 0 genome.wustl.edu 37 5 171765830 171765831 + Frame_Shift_Ins INS - - G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 171765830 171765831 - G INS SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known frame_shift_ins c.2279_2278 p.R760fs 1.000:1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 92 0 0 60 16 21.0526 SH3PXD2B 0 genome.wustl.edu 37 5 171833291 171833291 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 171833291 171833291 G - DEL SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known frame_shift_del c.222 p.L76fs 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 304 0 0 231 44 16 BTNL3 0 genome.wustl.edu 37 5 180432665 180432665 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 180432665 180432665 C - DEL BTNL3 ENST00000342868 human ensembl 74_37 +1 known frame_shift_del c.1194 p.S401fs 0.000 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,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 114 0 0 98 26 20.9677 TRIM7 0 genome.wustl.edu 37 5 180625788 180625788 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 180625788 180625788 C - DEL TRIM7 ENST00000274773 human ensembl 74_37 -1 known frame_shift_del c.890 p.G297fs 0.954 NULL 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,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 52 0 0 41 9 18 PDZD2 0 genome.wustl.edu 37 5 32097388 32097390 + In_Frame_Del DEL GAA GAA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 32097388 32097390 GAA - DEL PDZD2 ENST00000282493 human ensembl 74_37 +1 known in_frame_del c.7849_7851 p.E2618in_frame_del 1.000:1.000:1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 119 0 0 84 13 13.4021 KIAA0947 0 genome.wustl.edu 37 5 5463182 5463182 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 5463182 5463182 A - DEL KIAA0947 ENST00000296564 human ensembl 74_37 +1 known frame_shift_del c.3735 p.N1247fs 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 47 0 0 37 11 22.9167 MAST4 0 genome.wustl.edu 37 5 66461665 66461665 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 66461665 66461665 G - DEL MAST4 ENST00000404260 human ensembl 74_37 +1 known frame_shift_del c.6667 p.A2224fs 0.026 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 37 0 0 26 7 21.2121 BDP1 0 genome.wustl.edu 37 5 70806878 70806878 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 70806878 70806878 A - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.3959 p.N1321fs 0.035 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 197 0 0 130 43 24.8555 MAP1B 0 genome.wustl.edu 37 5 71491429 71491429 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 71491429 71491429 A - DEL MAP1B ENST00000296755 human ensembl 74_37 +1 known frame_shift_del c.2247 p.K751fs 0.001 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 168 0 0 114 26 18.5714 FCHO2 0 genome.wustl.edu 37 5 72264329 72264329 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 72264329 72264329 A - DEL FCHO2 ENST00000341845 human ensembl 74_37 +1 known frame_shift_del c.38 p.N15fs 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 14 0 0 6 5 45.4545 OTP 0 genome.wustl.edu 37 5 76932754 76932754 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 76932754 76932754 G - DEL OTP ENST00000306422 human ensembl 74_37 -1 known frame_shift_del c.339 p.A114fs 0.277 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors OTP HGNC ENSG00000171540 227 0 0 186 17 8.37438 TBCA 0 genome.wustl.edu 37 5 76989051 76989051 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 76989051 76989051 A - DEL TBCA ENST00000306388 human ensembl 74_37 -1 putative frame_shift_del c.286 p.S96fs 0.176 NULL pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd - no_errors TBCA HGNC ENSG00000171530 50 0 0 32 12 27.2727 GPR98 0 genome.wustl.edu 37 5 90449208 90449208 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 90449208 90449208 A - DEL GPR98 ENST00000405460 human ensembl 74_37 +1 known frame_shift_del c.18795 p.T6267fs 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 30 0 0 29 7 19.4444 ELL2 0 genome.wustl.edu 37 5 95234467 95234467 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 5 95234467 95234467 T - DEL ELL2 ENST00000237853 human ensembl 74_37 -1 known frame_shift_del c.1002 p.A335fs 1.000 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 372 0 0 303 61 16.7582 REV3L 0 genome.wustl.edu 37 6 111697578 111697578 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 111697578 111697578 A - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.1980 p.F660fs 1.000 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 175 0 0 148 18 10.8434 RFX6 0 genome.wustl.edu 37 6 117237372 117237372 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 117237372 117237372 T - DEL RFX6 ENST00000332958 human ensembl 74_37 +1 known frame_shift_del c.867 p.L291fs 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 303 0 0 222 64 22.3776 THEMIS 0 genome.wustl.edu 37 6 128134568 128134568 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 128134568 128134568 T - DEL THEMIS ENST00000543064 human ensembl 74_37 -1 known frame_shift_del c.1218 p.V407fs 0.397 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 154 0 0 157 24 13.2597 AKAP7 0 genome.wustl.edu 37 6 131602673 131602673 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 131602673 131602673 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.788 p.K264fs 1.000 superfamily_RNA_ligase/cNuc_Pdiesterase pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 91 0 0 52 11 17.4603 STXBP5 0 genome.wustl.edu 37 6 147684582 147684582 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 147684582 147684582 A - DEL STXBP5 ENST00000321680 human ensembl 74_37 +1 known frame_shift_del c.2657 p.D888fs 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 102 0 0 69 22 24.1758 ACAT2 0 genome.wustl.edu 37 6 160196216 160196216 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 160196216 160196216 A - DEL ACAT2 ENST00000541436 human ensembl 74_37 +1 known frame_shift_del c.592 p.K199fs 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 106 0 0 79 18 18.5567 DLL1 0 genome.wustl.edu 37 6 170592611 170592611 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 170592611 170592611 C - DEL DLL1 ENST00000366756 human ensembl 74_37 -1 known frame_shift_del c.1756 p.E586fs 0.990 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 84 0 0 80 9 10.1124 DEK 0 genome.wustl.edu 37 6 18258595 18258596 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 18258595 18258596 - T INS DEK ENST00000397239 human ensembl 74_37 -1 known frame_shift_ins c.187_186 p.V62fs 1.000:1.000 NULL pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom - no_errors DEK HGNC ENSG00000124795 265 0 0 198 52 20.8 BTN2A1 0 genome.wustl.edu 37 6 26465541 26465541 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 26465541 26465541 G - DEL BTN2A1 ENST00000312541 human ensembl 74_37 +1 known frame_shift_del c.841 p.E282fs 0.000 NULL 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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 229 0 0 141 32 18.4971 ZKSCAN3 0 genome.wustl.edu 37 6 28334042 28334042 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 28334042 28334042 A - DEL ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known frame_shift_del c.1597 p.N534fs 0.206 pfscan_Znf_C2H2 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_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 161 0 0 137 23 14.375 DHX16 0 genome.wustl.edu 37 6 30621048 30621048 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 30621048 30621048 T - DEL DHX16 ENST00000376442 human ensembl 74_37 -1 known frame_shift_del c.3097 p.I1033fs 0.987 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 187 0 0 125 34 21.3836 VARS2 0 genome.wustl.edu 37 6 30889916 30889916 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 30889916 30889916 C - DEL VARS2 ENST00000541562 human ensembl 74_37 +1 known frame_shift_del c.1920 p.L642fs 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_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 198 0 0 131 37 22.0238 BRD2 0 genome.wustl.edu 37 6 32948441 32948443 + In_Frame_Del DEL CTC CTC - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 32948441 32948443 CTC - DEL BRD2 ENST00000395289 human ensembl 74_37 +1 known in_frame_del c.2457_2459 p.S823in_frame_del 0.927:1.000:1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 112 0 0 50 22 30.5556 ZBTB9 0 genome.wustl.edu 37 6 33423605 33423605 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 33423605 33423605 T - DEL ZBTB9 ENST00000395064 human ensembl 74_37 +1 known frame_shift_del c.728 p.R246fs 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 108 0 0 109 22 16.7939 TCP11 0 genome.wustl.edu 37 6 35088275 35088275 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 35088275 35088275 G - DEL TCP11 ENST00000311875 human ensembl 74_37 -1 known frame_shift_del c.903 p.T302fs 0.176 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 127 0 0 113 19 14.3939 FANCE 0 genome.wustl.edu 37 6 35425715 35425715 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 35425715 35425715 C - DEL FANCE ENST00000229769 human ensembl 74_37 +1 known frame_shift_del c.923 p.P310fs 0.000 pfam_Fanconi_anaemia_gr_E_prot_C pfam_Fanconi_anaemia_gr_E_prot_C - no_errors FANCE HGNC ENSG00000112039 106 0 0 85 20 19.0476 LRFN2 0 genome.wustl.edu 37 6 40400212 40400212 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 40400212 40400212 G - DEL LRFN2 ENST00000338305 human ensembl 74_37 -1 known frame_shift_del c.641 p.P214fs 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,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 LRFN2 HGNC ENSG00000156564 71 0 0 50 13 20.6349 APOBEC2 0 genome.wustl.edu 37 6 41029581 41029583 + In_Frame_Del DEL GAG GAG - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 41029581 41029583 GAG - DEL APOBEC2 ENST00000244669 human ensembl 74_37 +1 known in_frame_del c.646_648 p.E217in_frame_del 0.970:0.999:0.999 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC2 HGNC ENSG00000124701 155 0 0 103 20 16.2602 PRICKLE4 0 genome.wustl.edu 37 6 41752759 41752759 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 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 166 0 0 146 25 14.6199 PRPH2 0 genome.wustl.edu 37 6 42689868 42689868 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 42689868 42689868 C - DEL PRPH2 ENST00000230381 human ensembl 74_37 -1 known frame_shift_del c.205 p.V69fs 0.753 pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors PRPH2 HGNC ENSG00000112619 196 0 0 136 42 23.5955 GLTSCR1L 0 genome.wustl.edu 37 6 42832627 42832627 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 42832627 42832627 A - DEL GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known frame_shift_del c.2683 p.T897fs 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 99 0 0 78 15 16.129 DLK2 0 genome.wustl.edu 37 6 43418412 43418413 + Frame_Shift_Ins INS - - G TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 43418412 43418413 - G INS DLK2 ENST00000357338 human ensembl 74_37 -1 known frame_shift_ins c.1017_1016 p.G340fs 0.458:0.819 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 61 0 0 54 8 12.9032 AARS2 0 genome.wustl.edu 37 6 44269193 44269193 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 44269193 44269193 C - DEL AARS2 ENST00000244571 human ensembl 74_37 -1 known frame_shift_del c.2607 p.T871fs 0.008 tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 156 0 0 142 14 8.97436 KLHL31 0 genome.wustl.edu 37 6 53519759 53519759 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 53519759 53519759 T - DEL KLHL31 ENST00000370905 human ensembl 74_37 -1 known frame_shift_del c.312 p.D105fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 253 0 0 237 59 19.9324 KIAA1586 0 genome.wustl.edu 37 6 56917519 56917519 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 56917519 56917519 T - DEL KIAA1586 ENST00000370733 human ensembl 74_37 +1 known frame_shift_del c.222 p.L76fs 0.001 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 128 0 0 98 12 10.9091 PHF3 0 genome.wustl.edu 37 6 64423498 64423500 + In_Frame_Del DEL AGA AGA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 64423498 64423500 AGA - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known in_frame_del c.6014_6016 p.K2006in_frame_del 0.992:0.040:0.975 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 53 0 0 28 6 17.6471 COL9A1 0 genome.wustl.edu 37 6 70991121 70991121 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 70991121 70991121 G - DEL COL9A1 ENST00000357250 human ensembl 74_37 -1 known frame_shift_del c.848 p.P283fs 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 53 0 0 38 8 17.3913 DSP 0 genome.wustl.edu 37 6 7580509 7580509 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 7580509 7580509 A - DEL DSP ENST00000379802 human ensembl 74_37 +1 known frame_shift_del c.4086 p.N1364fs 0.741 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 127 0 0 117 29 19.863 COL12A1 0 genome.wustl.edu 37 6 75899298 75899298 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 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 338 0 0 218 58 21.0145 KIAA1009 0 genome.wustl.edu 37 6 84870551 84870551 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 6 84870551 84870551 T - DEL KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_del c.2761 p.I921fs 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 188 0 0 135 32 19.1617 PCOLCE 0 genome.wustl.edu 37 7 100201128 100201128 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 100201128 100201128 C - DEL PCOLCE ENST00000223061 human ensembl 74_37 +1 known frame_shift_del c.171 p.P59fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 71 0 0 68 15 18.0723 PLOD3 0 genome.wustl.edu 37 7 100855927 100855927 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 100855927 100855927 G - DEL PLOD3 ENST00000223127 human ensembl 74_37 -1 known frame_shift_del c.889 p.R297fs 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 66 0 0 39 6 13.3333 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 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 141 0 0 151 36 19.2513 LSMEM1 0 genome.wustl.edu 37 7 112127036 112127037 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 112127036 112127037 - T INS LSMEM1 ENST00000312849 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.V64fs 0.031:0.028 NULL NULL - no_errors LSMEM1 HGNC ENSG00000181016 172 0 0 128 46 26.4368 TAS2R16 0 genome.wustl.edu 37 7 122635425 122635425 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 122635425 122635425 A - DEL TAS2R16 ENST00000249284 human ensembl 74_37 -1 known frame_shift_del c.264 p.F88fs 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 91 0 0 80 25 23.8095 FLNC 0 genome.wustl.edu 37 7 128481391 128481391 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 128481391 128481391 G - DEL FLNC ENST00000325888 human ensembl 74_37 +1 known frame_shift_del c.1981 p.A661fs 1.000 superfamily_Ig_E-set,smart_Filamin 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 276 0 0 226 35 13.41 LRGUK 0 genome.wustl.edu 37 7 133863282 133863282 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 133863282 133863282 C - DEL LRGUK ENST00000285928 human ensembl 74_37 +1 known frame_shift_del c.1135 p.P380fs 1.000 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 129 0 0 91 19 17.2727 OR9A2 0 genome.wustl.edu 37 7 142723617 142723617 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 142723617 142723617 A - DEL OR9A2 ENST00000350513 human ensembl 74_37 -1 known frame_shift_del c.603 p.F201fs 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A2 HGNC ENSG00000179468 109 0 0 91 18 16.5138 ABCB5 0 genome.wustl.edu 37 7 20682918 20682919 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 20682918 20682919 - T INS ABCB5 ENST00000404938 human ensembl 74_37 +1 putative frame_shift_ins c.426_427 p.H144fs 0.885:0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 84 0 0 62 19 23.4568 RAPGEF5 0 genome.wustl.edu 37 7 22197474 22197474 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 22197474 22197474 T - DEL RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known frame_shift_del c.1097 p.K366fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 77 0 0 80 13 13.9785 CARD11 0 genome.wustl.edu 37 7 2968323 2968323 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 2968323 2968323 G - DEL CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_del c.1663 p.R555fs 0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 86 0 0 54 6 10 GARS 0 genome.wustl.edu 37 7 30673453 30673453 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 30673453 30673453 A - DEL GARS ENST00000389266 human ensembl 74_37 +1 known frame_shift_del c.2197 p.E735fs 1.000 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 108 0 0 59 16 21.3333 POLM 0 genome.wustl.edu 37 7 44120414 44120414 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 44120414 44120414 G - DEL POLM ENST00000242248 human ensembl 74_37 -1 known frame_shift_del c.290 p.P97fs 0.047 superfamily_BRCT_dom,pirsf_TdT/Mu,pfscan_BRCT_dom pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 135 0 0 101 13 11.4035 NPC1L1 0 genome.wustl.edu 37 7 44576448 44576448 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 44576448 44576448 C - DEL NPC1L1 ENST00000289547 human ensembl 74_37 -1 known frame_shift_del c.1674 p.Y559fs 0.134 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 67 0 0 59 16 21.3333 SUN3 0 genome.wustl.edu 37 7 48028463 48028463 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 48028463 48028463 T - DEL SUN3 ENST00000297325 human ensembl 74_37 -1 known frame_shift_del c.876 p.K292fs 0.989 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN3 HGNC ENSG00000164744 167 0 0 127 30 19.1083 RADIL 0 genome.wustl.edu 37 7 4876168 4876168 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 4876168 4876168 C - DEL RADIL ENST00000399583 human ensembl 74_37 -1 known frame_shift_del c.604 p.D202fs 0.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 33 0 0 22 7 24.1379 POM121L12 0 genome.wustl.edu 37 7 53104101 53104102 + Frame_Shift_Ins INS - - T TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 53104101 53104102 - T INS POM121L12 ENST00000408890 human ensembl 74_37 +1 known frame_shift_ins c.737_738 p.C248fs 0.000:0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 81 0 0 45 5 10 TRIM73 0 genome.wustl.edu 37 7 75034218 75034218 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 75034218 75034218 G - DEL TRIM73 ENST00000323819 human ensembl 74_37 +1 known frame_shift_del c.592 p.G199fs 0.131 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 TRIM73 HGNC ENSG00000178809 136 0 0 137 9 6.16438 COL28A1 0 genome.wustl.edu 37 7 7557425 7557426 + Splice_Site INS - - C TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 7557425 7557426 - C INS COL28A1 ENST00000399429 human ensembl 74_37 -1 known splice_site_ins c.855+1_855+1 e6+1 0.993:0.992 - - - no_errors COL28A1 HGNC ENSG00000215018 338 0 0 254 70 21.6049 GSAP 0 genome.wustl.edu 37 7 76959580 76959581 + Frame_Shift_Del DEL CT CT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 76959580 76959581 CT - DEL GSAP ENST00000257626 human ensembl 74_37 -1 known frame_shift_del c.1650_1649 p.E550fs 0.980:0.998 NULL NULL - no_errors GSAP HGNC ENSG00000186088 200 0 0 158 11 6.50888 PTPN12 0 genome.wustl.edu 37 7 77256248 77256248 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 77256248 77256248 A - DEL PTPN12 ENST00000248594 human ensembl 74_37 +1 known frame_shift_del c.1252 p.N419fs 1.000 pirsf_Ptpn_12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 116 0 0 79 20 20.202 KRIT1 0 genome.wustl.edu 37 7 91870426 91870426 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 91870426 91870426 T - DEL KRIT1 ENST00000340022 human ensembl 74_37 -1 known frame_shift_del c.143 p.K48fs 0.999 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 130 0 0 106 18 14.5161 ZNF655 0 genome.wustl.edu 37 7 99170525 99170525 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 99170525 99170525 A - DEL ZNF655 ENST00000424881 human ensembl 74_37 +1 known frame_shift_del c.899 p.K301fs 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 134 0 0 95 28 22.7642 GPC2 0 genome.wustl.edu 37 7 99773286 99773286 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 7 99773286 99773286 G - DEL GPC2 ENST00000292377 human ensembl 74_37 -1 known frame_shift_del c.557 p.P186fs 1.000 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 69 0 0 38 10 20.8333 FZD6 0 genome.wustl.edu 37 8 104340619 104340619 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 104340619 104340619 T - DEL FZD6 ENST00000358755 human ensembl 74_37 +1 known frame_shift_del c.1516 p.F507fs 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 142 0 0 111 28 20.1439 PKHD1L1 0 genome.wustl.edu 37 8 110509434 110509434 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 110509434 110509434 T - DEL PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known frame_shift_del c.10532 p.P3513fs 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 151 0 0 132 27 16.9811 ASAP1 0 genome.wustl.edu 37 8 131226887 131226887 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 131226887 131226887 A - DEL ASAP1 ENST00000357668 human ensembl 74_37 -1 known frame_shift_del c.320 p.L107fs 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 146 0 0 118 37 23.871 SLC45A4 0 genome.wustl.edu 37 8 142221700 142221700 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 142221700 142221700 T - DEL SLC45A4 ENST00000517878 human ensembl 74_37 -1 known frame_shift_del c.2398 p.I800fs 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 141 0 0 100 31 23.6641 CYC1 0 genome.wustl.edu 37 8 145150876 145150876 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 145150876 145150876 C - DEL CYC1 ENST00000318911 human ensembl 74_37 +1 known frame_shift_del c.270 p.S93fs 1.000 superfamily_Cyt_c-like_dom pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 90 0 0 50 7 12.2807 CSGALNACT1 0 genome.wustl.edu 37 8 19263296 19263296 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 19263296 19263296 T - DEL CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known frame_shift_del c.1594 p.T532fs 0.997 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 187 0 0 143 40 21.8579 DMTN 0 genome.wustl.edu 37 8 21926552 21926552 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 21926552 21926552 C - DEL DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_del c.275 p.P94fs 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 126 0 0 75 8 9.63855 FZD3 0 genome.wustl.edu 37 8 28409242 28409242 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 28409242 28409242 T - DEL FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_del c.1527 p.H512fs 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 189 0 0 135 29 17.6829 WRN 0 genome.wustl.edu 37 8 30915971 30915971 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 30915971 30915971 A - DEL WRN ENST00000298139 human ensembl 74_37 +1 known frame_shift_del c.8 p.K5fs 0.139 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 37 0 0 43 11 20.3704 CSMD1 0 genome.wustl.edu 37 8 3200920 3200920 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 3200920 3200920 T - DEL CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_del c.3530 p.N1177fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 116 0 0 92 7 7.07071 RB1CC1 0 genome.wustl.edu 37 8 53569498 53569498 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 53569498 53569498 T - DEL RB1CC1 ENST00000025008 human ensembl 74_37 -1 known frame_shift_del c.2891 p.K964fs 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 270 0 0 187 48 20.4255 CYP7B1 0 genome.wustl.edu 37 8 65509466 65509466 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 65509466 65509466 A - DEL CYP7B1 ENST00000310193 human ensembl 74_37 -1 known frame_shift_del c.1254 p.F418fs 0.701 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 116 0 0 58 18 23.6842 KCNB2 0 genome.wustl.edu 37 8 73480396 73480397 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 73480396 73480397 - A INS KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_ins c.427_428 p.E146fs 1.000:1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 186 0 0 131 38 22.4852 KCNB2 0 genome.wustl.edu 37 8 73849869 73849869 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 73849869 73849869 C - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.2279 p.S762fs 0.106 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 262 0 0 143 34 19.209 TNKS 0 genome.wustl.edu 37 8 9567544 9567544 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 9567544 9567544 A - DEL TNKS ENST00000310430 human ensembl 74_37 +1 known frame_shift_del c.1658 p.N555fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 139 0 0 106 18 14.5161 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 103 0 0 65 16 19.7531 TEX10 0 genome.wustl.edu 37 9 103111633 103111633 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 103111633 103111633 T - DEL TEX10 ENST00000374902 human ensembl 74_37 -1 known frame_shift_del c.13 p.R5fs 1.000 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 54 0 0 48 8 14.2857 RAD23B 0 genome.wustl.edu 37 9 110062486 110062486 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 110062486 110062486 A - DEL RAD23B ENST00000358015 human ensembl 74_37 +1 known frame_shift_del c.131 p.K45fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 100 0 0 89 15 14.4231 ZFP37 0 genome.wustl.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 115806416 115806416 T - DEL ZFP37 ENST00000553380 human ensembl 74_37 -1 known frame_shift_del c.527 p.N176fs 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 ZFP37 HGNC ENSG00000136866 274 0 0 183 49 21.1207 COL27A1 0 genome.wustl.edu 37 9 117052381 117052381 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 117052381 117052381 G - DEL COL27A1 ENST00000356083 human ensembl 74_37 +1 known frame_shift_del c.4250 p.V1419fs 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 41 0 0 37 9 19.5652 ABL1 0 genome.wustl.edu 37 9 133760024 133760024 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 133760024 133760024 C - DEL ABL1 ENST00000372348 human ensembl 74_37 +1 known frame_shift_del c.2404 p.R804fs 1.000 NULL pfam_F-actin_binding,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,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 60 0 0 40 13 24.5283 GTF3C4 0 genome.wustl.edu 37 9 135554690 135554691 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 135554690 135554691 - A INS GTF3C4 ENST00000372146 human ensembl 74_37 +1 known frame_shift_ins c.1684_1685 p.I565fs 1.000:1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 308 0 0 269 68 20.178 SEC16A 0 genome.wustl.edu 37 9 139369409 139369412 + Frame_Shift_Del DEL CAGA CAGA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 139369409 139369412 CAGA - DEL SEC16A ENST00000313050 human ensembl 74_37 -1 known frame_shift_del c.2659_2656 p.S886fs 0.020:0.004:0.008:0.002 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 77 0 0 48 11 18.6441 TPRN 0 genome.wustl.edu 37 9 140093439 140093441 + In_Frame_Del DEL CTT CTT - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 140093439 140093441 CTT - DEL TPRN ENST00000409012 human ensembl 74_37 -1 known in_frame_del c.1725_1723 p.K575in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors TPRN HGNC ENSG00000176058 142 0 0 104 15 12.605 NDOR1 0 genome.wustl.edu 37 9 140108703 140108703 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 140108703 140108703 C - DEL NDOR1 ENST00000371521 human ensembl 74_37 +1 known frame_shift_del c.560 p.T187fs 0.000 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 NDOR1 HGNC ENSG00000188566 46 0 0 41 6 12.766 PNPLA7 0 genome.wustl.edu 37 9 140356679 140356679 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 140356679 140356679 G - DEL PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_del c.3597 p.I1200fs 1.000 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 PNPLA7 HGNC ENSG00000130653 47 0 0 37 6 13.9535 ZMYND19 0 genome.wustl.edu 37 9 140481542 140481542 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 140481542 140481542 C - DEL ZMYND19 ENST00000298585 human ensembl 74_37 -1 known frame_shift_del c.236 p.G79fs 0.986 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 133 0 0 103 15 12.7119 FOCAD 0 genome.wustl.edu 37 9 20953057 20953057 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 20953057 20953057 A - DEL FOCAD ENST00000338382 human ensembl 74_37 +1 known frame_shift_del c.4125 p.G1378fs 0.983 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 97 0 0 47 19 28.7879 AQP3 0 genome.wustl.edu 37 9 33442934 33442934 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 33442934 33442934 A - DEL AQP3 ENST00000297991 human ensembl 74_37 -1 known frame_shift_del c.408 p.F136fs 0.012 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP - no_errors AQP3 HGNC ENSG00000165272 161 0 0 107 18 14.4 ZNF658 0 genome.wustl.edu 37 9 40772691 40772691 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 40772691 40772691 T - DEL ZNF658 ENST00000377626 human ensembl 74_37 -1 known frame_shift_del c.2584 p.T862fs 0.007 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 ZNF658 HGNC ENSG00000196409 334 0 0 254 30 10.5634 KIAA1432 0 genome.wustl.edu 37 9 5753614 5753614 + Frame_Shift_Del DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 5753614 5753614 A - DEL KIAA1432 ENST00000418622 human ensembl 74_37 +1 known frame_shift_del c.1333 p.K446fs 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 119 0 0 101 16 13.6752 KIAA2026 0 genome.wustl.edu 37 9 5968162 5968162 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 5968162 5968162 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.2069 p.K690fs 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 47 0 0 27 8 22.8571 PGM5 0 genome.wustl.edu 37 9 71006490 71006490 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 9 71006490 71006490 G - DEL PGM5 ENST00000396396 human ensembl 74_37 +1 known frame_shift_del c.738 p.A248fs 0.997 pfam_A-D-PHexomutase_a/b/a-II pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 266 0 0 175 14 7.40741 TEX13A 0 genome.wustl.edu 37 X 104463832 104463832 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 104463832 104463832 C - DEL TEX13A ENST00000413579 human ensembl 74_37 -1 known frame_shift_del c.1044 p.H350fs 0.000 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 66 0 0 60 30 33.3333 TBC1D8B 0 genome.wustl.edu 37 X 106069300 106069300 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 106069300 106069300 T - DEL TBC1D8B ENST00000357242 human ensembl 74_37 +1 known frame_shift_del c.868 p.F291fs 0.995 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 166 0 0 72 51 41.4634 IRS4 0 genome.wustl.edu 37 X 107977803 107977803 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 107977803 107977803 C - DEL IRS4 ENST00000372129 human ensembl 74_37 -1 known frame_shift_del c.1772 p.G591fs 0.016 NULL 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 238 0 0 137 77 35.9813 UPF3B 0 genome.wustl.edu 37 X 118975216 118975217 + Frame_Shift_Del DEL CA CA - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 118975216 118975217 CA - DEL UPF3B ENST00000276201 human ensembl 74_37 -1 known frame_shift_del c.630_629 p.M210fs 1.000:1.000 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 163 0 0 102 61 37.4233 BCORL1 0 genome.wustl.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 129190011 129190011 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.5258 p.P1755fs 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 73 0 0 52 13 20 PASD1 0 genome.wustl.edu 37 X 150842425 150842425 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 150842425 150842425 C - DEL PASD1 ENST00000370357 human ensembl 74_37 +1 known frame_shift_del c.1942 p.V650fs 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 117 0 0 99 36 26.6667 XK 0 genome.wustl.edu 37 X 37587584 37587585 + Frame_Shift_Ins INS - - A TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 37587584 37587585 - A INS XK ENST00000378616 human ensembl 74_37 +1 known frame_shift_ins c.1204_1205 p.P404fs 0.000:0.000 NULL pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 73 0 0 43 31 41.8919 KDM5C 0 genome.wustl.edu 37 X 53246393 53246393 + Frame_Shift_Del DEL G G - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 53246393 53246393 G - DEL KDM5C ENST00000375401 human ensembl 74_37 -1 known frame_shift_del c.589 p.L197fs 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 24 0 0 7 10 58.8235 WNK3 0 genome.wustl.edu 37 X 54228568 54228568 + Frame_Shift_Del DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 54228568 54228568 T - DEL WNK3 ENST00000354646 human ensembl 74_37 -1 known frame_shift_del c.4929 p.M1645fs 1.000 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 WNK3 HGNC ENSG00000196632 44 0 0 34 17 33.3333 UBQLN2 0 genome.wustl.edu 37 X 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 56591874 56591874 C - DEL UBQLN2 ENST00000338222 human ensembl 74_37 +1 known frame_shift_del c.1568 p.P525fs 0.175 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 11 0 0 3 2 40 MAP2K4P1 0 genome.wustl.edu 37 X 72744763 72744763 + RNA DEL T T - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 72744763 72744763 T - DEL MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 25 0 0 10 12 54.5455 XIST 0 genome.wustl.edu 37 X 73053273 73053273 + RNA DEL A A - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 73053273 73053273 A - DEL XIST ENST00000602495 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XIST HGNC ENSG00000229807 52 0 0 21 15 41.6667 FAM46D 0 genome.wustl.edu 37 X 79699146 79699146 + Frame_Shift_Del DEL C C - TCGA-CG-5723-01A-11D-1600-08 TCGA-CG-5723-11A-02D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ffb4f42b-58e9-40c3-8963-11804f041375 e4834ec5-3085-4675-8d63-23f546b30799 X 79699146 79699146 C - DEL FAM46D ENST00000308293 human ensembl 74_37 +1 known frame_shift_del c.1108 p.V372fs 0.734 NULL pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 41 0 0 24 9 27.2727