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 COL11A1 0 genome.wustl.edu 37 1 103484413 103484413 + Silent SNP A A T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 103484413 103484413 A T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.1347 p.G449 0.062 NULL 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 80 0 0 57 11 16.1765 LOC101927345 0 genome.wustl.edu 37 1 143378564 143378564 + RNA SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 143378564 143378564 G A SNP LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 9 0 0 4 5 55.5556 IGSF9 0 genome.wustl.edu 37 1 159912835 159912835 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 159912835 159912835 G A SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known silent c.165 p.I55 1.000 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 81 0 0 34 10 22.7273 CACNA1E 0 genome.wustl.edu 37 1 181767666 181767666 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 181767666 181767666 C A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6638 p.S2213Y 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 101 0 0 47 17 26.5625 HMCN1 0 genome.wustl.edu 37 1 185946997 185946997 + Missense_Mutation SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 185946997 185946997 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2450 p.Q817R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 149 0 0 106 10 8.62069 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 259 0 0 131 39 22.9412 KCNH1 0 genome.wustl.edu 37 1 211093223 211093223 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 211093223 211093223 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.1221 p.D407 0.261 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,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 KCNH1 HGNC ENSG00000143473 173 0 0 114 27 19.1489 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,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 169 0 0 50 29 36.7089 GJA4 0 genome.wustl.edu 37 1 35260202 35260202 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 35260202 35260202 G A SNP GJA4 ENST00000342280 human ensembl 74_37 +1 known missense c.388 p.V130I 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 38 0 0 26 6 18.75 RSPO1 0 genome.wustl.edu 37 1 38082187 38082187 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 38082187 38082187 G A SNP RSPO1 ENST00000356545 human ensembl 74_37 -1 known silent c.255 p.D85 0.994 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO1 HGNC ENSG00000169218 124 0 0 57 22 27.8481 SLC2A1 0 genome.wustl.edu 37 1 43396861 43396861 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 43396861 43396861 T C SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known missense c.131 p.Y44C 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 91 0 0 28 19 40.4255 LRRC7 0 genome.wustl.edu 37 1 70504365 70504365 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 70504365 70504365 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.2744 p.R915H 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 141 0 0 73 30 29.1262 CAMTA1 0 genome.wustl.edu 37 1 7725097 7725097 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 7725097 7725097 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.2490 p.S830 0.846 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 178 0 0 101 36 26.2774 FRMD4A 0 genome.wustl.edu 37 10 13698676 13698676 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 10 13698676 13698676 G A SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known silent c.2913 p.S971 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 30 0 0 4 8 66.6667 CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 74 0 0 37 20 35.0877 MMP10 0 genome.wustl.edu 37 11 102643648 102643648 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 102643648 102643648 T C SNP MMP10 ENST00000279441 human ensembl 74_37 -1 known missense c.1156 p.K386E 0.900 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom 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 MMP10 HGNC ENSG00000166670 241 0 0 133 49 26.9231 MSANTD4 0 genome.wustl.edu 37 11 105880559 105880559 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 105880559 105880559 A C SNP MSANTD4 ENST00000301919 human ensembl 74_37 -1 known missense c.741 p.H247Q 0.942 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 183 0 0 90 41 31.2977 MICALCL 0 genome.wustl.edu 37 11 12315180 12315180 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 12315180 12315180 C G SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.202 p.R68G 0.003 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 424 0 0 185 31 14.3519 NLRP6 0 genome.wustl.edu 37 11 284257 284257 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 284257 284257 G A SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known silent c.2229 p.A743 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP6 HGNC ENSG00000174885 73 0 0 28 4 12.5 TNKS1BP1 0 genome.wustl.edu 37 11 57077351 57077351 + Missense_Mutation SNP G G C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 57077351 57077351 G C SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2834 p.A945G 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 258 0 0 151 18 10.6509 OR9Q2 0 genome.wustl.edu 37 11 57958374 57958374 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 57958374 57958374 G A SNP OR9Q2 ENST00000311591 human ensembl 74_37 +1 known missense c.412 p.E138K 0.766 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 OR9Q2 HGNC ENSG00000186513 160 0 0 86 22 20.3704 TMEM138 0 genome.wustl.edu 37 11 61133663 61133663 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 61133663 61133663 G A SNP TMEM138 ENST00000278826 human ensembl 74_37 +1 known missense c.275 p.S92N 1.000 NULL NULL - no_errors TMEM138 HGNC ENSG00000149483 196 0 0 106 30 22.0588 MAP3K11 0 genome.wustl.edu 37 11 65375465 65375465 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 65375465 65375465 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.997 p.G333S 1.000 pirsf_MAPKKK9/10/11,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_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 93 0 0 45 11 19.6429 ANKS1B 0 genome.wustl.edu 37 12 100200338 100200338 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 12 100200338 100200338 G A SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known silent c.513 p.Y171 0.984 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 78 0 0 52 20 27.7778 PLA2G1B 0 genome.wustl.edu 37 12 120763699 120763699 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 12 120763699 120763699 C A SNP PLA2G1B ENST00000308366 human ensembl 74_37 -1 known missense c.159 p.L53F 0.998 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G1B HGNC ENSG00000170890 256 1 0.389105 120 30 20 FZD10 0 genome.wustl.edu 37 12 130647618 130647618 + Missense_Mutation SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 12 130647618 130647618 A G SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.131 p.D44G 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 42 0 0 42 5 10.6383 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 141 1 0.704225 28 39 58.209 KRT2 0 genome.wustl.edu 37 12 53045826 53045826 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 12 53045826 53045826 C T SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.101 p.R34Q 0.567 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 43 0 0 18 10 35.7143 CCNA1 0 genome.wustl.edu 37 13 37006834 37006834 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 13 37006834 37006834 G A SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.76 p.E26K 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 30 0 0 14 5 26.3158 OXGR1 0 genome.wustl.edu 37 13 97639925 97639925 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 13 97639925 97639925 G A SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known missense c.89 p.P30L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 137 0 0 65 16 19.7531 DPPA3P2 0 genome.wustl.edu 37 14 36840695 36840695 + RNA SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 14 36840695 36840695 A G SNP DPPA3P2 ENST00000557188 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors DPPA3P2 HGNC ENSG00000188831 78 0 0 32 4 11.1111 SPTB 0 genome.wustl.edu 37 14 65263300 65263300 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 14 65263300 65263300 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.1316 p.S439N 0.990 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 136 0 0 56 8 12.5 LRRK1 0 genome.wustl.edu 37 15 101605541 101605541 + RNA SNP T T G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 15 101605541 101605541 T G SNP LRRK1 ENST00000525395 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRK1 HGNC ENSG00000154237 93 0 0 60 12 16.6667 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 101 1 0.980392 38 31 44.9275 NPRL3 0 genome.wustl.edu 37 16 169129 169129 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 16 169129 169129 C A SNP NPRL3 ENST00000399953 human ensembl 74_37 -1 known missense c.314 p.G105V 1.000 pfam_NPR3,superfamily_Galactose-bd-like pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 42 0 0 14 2 12.5 LOC653786 0 genome.wustl.edu 37 16 22588087 22588087 + RNA SNP G G C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 16 22588087 22588087 G C SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 24 0 0 11 4 26.6667 ZNF768 0 genome.wustl.edu 37 16 30536672 30536672 + Silent SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 16 30536672 30536672 A G SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known silent c.789 p.C263 0.191 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 123 0 0 50 6 10.7143 CCDC102A 0 genome.wustl.edu 37 16 57552022 57552022 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 16 57552022 57552022 G A SNP CCDC102A ENST00000258214 human ensembl 74_37 -1 known silent c.1206 p.C402 0.555 NULL NULL - no_errors CCDC102A HGNC ENSG00000135736 219 0 0 114 19 14.2857 EMC8 0 genome.wustl.edu 37 16 85813362 85813362 + Silent SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 16 85813362 85813362 A G SNP EMC8 ENST00000253457 human ensembl 74_37 -1 known silent c.585 p.N195 1.000 pfam_UPF0172 pfam_UPF0172 - no_errors EMC8 HGNC ENSG00000131148 133 0 0 59 10 14.4928 MAP2K4 0 genome.wustl.edu 37 17 11984671 11984671 + Splice_Site SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 11984671 11984671 A G SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known splice_site c.252-2 e4-2 1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 125 0 0 41 16 28.0702 SLC43A2 0 genome.wustl.edu 37 17 1494567 1494567 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 1494567 1494567 G A SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known silent c.927 p.A309 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 102 0 0 34 4 10.5263 KRT28 0 genome.wustl.edu 37 17 38953169 38953169 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 38953169 38953169 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.977 p.T326M 0.998 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 180 0 0 67 20 22.9885 KRTAP4-11 0 genome.wustl.edu 37 17 39274235 39274235 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 39274235 39274235 G A SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known silent c.333 p.R111 0.048 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 76 0 0 51 4 7.27273 SPATA20 0 genome.wustl.edu 37 17 48628510 48628510 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 48628510 48628510 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1535 p.P512H 1.000 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 57 0 0 16 10 38.4615 LPO 0 genome.wustl.edu 37 17 56326514 56326514 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 56326514 56326514 C G SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.419 p.T140S 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 127 0 0 42 39 48.1481 SMG8 0 genome.wustl.edu 37 17 57290373 57290373 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 57290373 57290373 C A SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.2189 p.T730N 0.947 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 188 1 0.529101 168 91 35.1351 DLGAP1 0 genome.wustl.edu 37 18 3729181 3729181 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 18 3729181 3729181 C T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known silent c.1545 p.S515 0.088 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 28 0 0 20 14 41.1765 CACNA1A 0 genome.wustl.edu 37 19 13409734 13409734 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 19 13409734 13409734 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.2713 p.A905T 0.000 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 38 0 0 7 5 41.6667 APC2 0 genome.wustl.edu 37 19 1466023 1466023 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 19 1466023 1466023 G A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.2723 p.R908Q 1.000 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 19 0 0 4 3 42.8571 BRD4 0 genome.wustl.edu 37 19 15364507 15364507 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 19 15364507 15364507 C T SNP BRD4 ENST00000360016 human ensembl 74_37 -1 known missense c.2246 p.R749H 0.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 66 0 0 17 9 34.6154 NPHS1 0 genome.wustl.edu 37 19 36330422 36330422 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 19 36330422 36330422 C G SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.2903 p.G968A 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,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 NPHS1 HGNC ENSG00000161270 201 1 0.49505 97 30 23.622 YIF1B 0 genome.wustl.edu 37 19 38799964 38799964 + Missense_Mutation SNP T T A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 19 38799964 38799964 T A SNP YIF1B ENST00000339413 human ensembl 74_37 -1 known missense c.302 p.D101V 1.000 pfam_Hrf1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1B HGNC ENSG00000167645 242 0 0 116 33 22.1477 IL1RL1 0 genome.wustl.edu 37 2 102954655 102954655 + RNA SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 102954655 102954655 T C SNP IL1RL1 ENST00000473175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IL1RL1 HGNC ENSG00000115602 87 0 0 20 36 64.2857 KCNF1 0 genome.wustl.edu 37 2 11053671 11053671 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 11053671 11053671 C T SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known silent c.1119 p.Y373 0.756 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,prints_K_chnl 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 92 0 0 41 35 46.0526 TUBA3D 0 genome.wustl.edu 37 2 132238306 132238306 + Missense_Mutation SNP G G T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 132238306 132238306 G T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.1040 p.C347F 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 138 0 0 103 17 14.1667 NEB 0 genome.wustl.edu 37 2 152404896 152404896 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 152404896 152404896 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.20083 p.A6695T 1.000 pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 108 0 0 54 12 18.1818 TTN 0 genome.wustl.edu 37 2 179622343 179622343 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 179622343 179622343 C A SNP TTN ENST00000359218 human ensembl 74_37 -1 known missense c.10466 p.G3489V 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 189 0 0 50 61 54.955 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 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 141 0 0 36 54 60 QPCT 0 genome.wustl.edu 37 2 37586990 37586990 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 37586990 37586990 C T SNP QPCT ENST00000338415 human ensembl 74_37 +1 known missense c.535 p.L179F 0.994 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC ENSG00000115828 285 0 0 84 93 52.5424 ELMOD3 0 genome.wustl.edu 37 2 85581735 85581735 + RNA SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 85581735 85581735 C G SNP ELMOD3 ENST00000462396 human ensembl 74_37 +1 putative rna NULL NULL 0.010 - - - no_errors ELMOD3 HGNC ENSG00000115459 27 0 0 7 10 58.8235 NAA20 0 genome.wustl.edu 37 20 20013784 20013784 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 20 20013784 20013784 T C SNP NAA20 ENST00000334982 human ensembl 74_37 +1 known missense c.490 p.S164P 1.000 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA20 HGNC ENSG00000173418 103 0 0 95 27 22.1311 CPXM1 0 genome.wustl.edu 37 20 2774876 2774876 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 20 2774876 2774876 A C SNP CPXM1 ENST00000380605 human ensembl 74_37 -1 known missense c.2165 p.L722R 0.986 superfamily_CarboxyPept-like_regulatory pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 123 0 0 88 20 18.5185 NDRG3 0 genome.wustl.edu 37 20 35317165 35317165 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 20 35317165 35317165 T C SNP NDRG3 ENST00000349004 human ensembl 74_37 -1 known missense c.116 p.H39R 1.000 pfam_Ndr pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 128 0 0 151 11 6.79012 WISP2 0 genome.wustl.edu 37 20 43355838 43355838 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 20 43355838 43355838 C T SNP WISP2 ENST00000190983 human ensembl 74_37 +1 known missense c.643 p.R215W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 85 0 0 74 29 28.1553 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 146 0 0 73 56 43.4109 SAMSN1 0 genome.wustl.edu 37 21 15893509 15893509 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 21 15893509 15893509 G A SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.91 p.R31W 1.000 pfam_rSAM/SH3_domain-containing 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 SAMSN1 HGNC ENSG00000155307 46 0 0 27 12 30.7692 SMARCB1 0 genome.wustl.edu 37 22 24167535 24167535 + Missense_Mutation SNP T T G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 22 24167535 24167535 T G SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.919 p.F307V 1.000 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 93 0 0 43 19 30.6452 CACNA1I 0 genome.wustl.edu 37 22 40037114 40037114 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 22 40037114 40037114 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.983 p.T328M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 149 0 0 62 14 18.4211 ZC3H7B 0 genome.wustl.edu 37 22 41739432 41739432 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 22 41739432 41739432 C T SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.1311 p.G437 0.525 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 152 0 0 65 10 13.3333 KLHDC7B 0 genome.wustl.edu 37 22 50987858 50987858 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 22 50987858 50987858 C T SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known silent c.1263 p.Y421 0.994 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 227 0 0 76 36 32.1429 MYH15 0 genome.wustl.edu 37 3 108129642 108129642 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 3 108129642 108129642 C T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.4343 p.R1448H 0.080 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 91 0 0 50 14 21.875 LIMD1 0 genome.wustl.edu 37 3 45677682 45677682 + Silent SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 3 45677682 45677682 C G SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1449 p.G483 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 504 0 0 182 41 18.3857 FYCO1 0 genome.wustl.edu 37 3 46009157 46009157 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 3 46009157 46009157 C A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.1669 p.A557S 0.000 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 155 0 0 50 27 35.0649 SLC26A6 0 genome.wustl.edu 37 3 48668088 48668088 + Nonsense_Mutation SNP G G T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 3 48668088 48668088 G T SNP SLC26A6 ENST00000395550 human ensembl 74_37 -1 known nonsense c.1200 p.C400* 0.998 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 11 0 0 8 3 27.2727 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 166 1 0.598802 52 22 29.7297 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 290 0 0 67 8 10.6667 MINA 0 genome.wustl.edu 37 3 97686239 97686239 + Nonsense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 3 97686239 97686239 G A SNP MINA ENST00000333396 human ensembl 74_37 -1 known nonsense c.199 p.Q67* 1.000 pfam_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 255 0 0 164 44 21.1538 MANBA 0 genome.wustl.edu 37 4 103557077 103557077 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 4 103557077 103557077 G A SNP MANBA ENST00000226578 human ensembl 74_37 -1 known missense c.2102 p.T701M 0.002 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 103 0 0 41 4 8.88889 PRMT10 0 genome.wustl.edu 37 4 148575375 148575375 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 4 148575375 148575375 T C SNP PRMT10 ENST00000322396 human ensembl 74_37 -1 known missense c.1673 p.D558G 0.899 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 140 0 0 42 53 55.7895 WDR17 0 genome.wustl.edu 37 4 177095813 177095813 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 4 177095813 177095813 A C SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.3510 p.L1170F 0.021 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 WDR17 HGNC ENSG00000150627 161 0 0 34 42 55.2632 IRF2 0 genome.wustl.edu 37 4 185339369 185339369 + Splice_Site SNP T T A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 4 185339369 185339369 T A SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known splice_site c.365-2 e4-2 1.000 - - - no_errors IRF2 HGNC ENSG00000168310 195 0 0 58 34 36.9565 EPHA5 0 genome.wustl.edu 37 4 66467874 66467874 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 4 66467874 66467874 A C SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.395 p.F132C 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 126 0 0 79 20 20.202 UNC5C 0 genome.wustl.edu 37 4 96127865 96127865 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 4 96127865 96127865 C T SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1816 p.V606I 0.988 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 99 0 0 26 23 46.9388 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 189 1 0.526316 70 38 35.1852 PCDH1 0 genome.wustl.edu 37 5 141243873 141243873 + Missense_Mutation SNP G G C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 5 141243873 141243873 G C SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2023 p.R675G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 111 0 0 40 27 40.2985 PDE6A 0 genome.wustl.edu 37 5 149276316 149276316 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 5 149276316 149276316 C T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known silent c.1431 p.K477 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 313 0 0 107 49 31.4103 CDH12 0 genome.wustl.edu 37 5 21854857 21854857 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 5 21854857 21854857 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.569 p.P190L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 70 0 0 47 27 36.4865 RGMB 0 genome.wustl.edu 37 5 98115642 98115642 + Missense_Mutation SNP G G T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 5 98115642 98115642 G T SNP RGMB ENST00000308234 human ensembl 74_37 +1 known missense c.618 p.L206F 1.000 pfam_RGM_N pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 48 0 0 26 12 31.5789 JARID2 0 genome.wustl.edu 37 6 15501276 15501276 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 15501276 15501276 C G SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.2084 p.A695G 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd 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 187 0 0 107 34 24.1135 PSMB1 0 genome.wustl.edu 37 6 170862307 170862307 + Nonsense_Mutation SNP A A T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 170862307 170862307 A T SNP PSMB1 ENST00000262193 human ensembl 74_37 -1 known nonsense c.24 p.Y8* 0.000 NULL pfam_Proteasome_sua/b - no_errors PSMB1 HGNC ENSG00000008018 29 0 0 16 3 15.7895 DDR1 0 genome.wustl.edu 37 6 30856549 30856549 + Missense_Mutation SNP G G T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 30856549 30856549 G T SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.43 p.V15L 0.815 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 82 0 0 35 8 18.6047 TNXB 0 genome.wustl.edu 37 6 32020697 32020697 + Silent SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 32020697 32020697 C A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.8859 p.L2953 0.795 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 125 0 0 44 9 16.9811 TUBB2B 0 genome.wustl.edu 37 6 3226033 3226033 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 3226033 3226033 G A SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known missense c.290 p.A97V 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_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 TUBB2B HGNC ENSG00000137285 55 0 0 23 10 30.303 ITPR3 0 genome.wustl.edu 37 6 33638163 33638163 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 33638163 33638163 A C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.2251 p.I751L 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 223 0 0 78 22 22 PIM1 0 genome.wustl.edu 37 6 37139029 37139029 + Silent SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 37139029 37139029 C G SNP PIM1 ENST00000373509 human ensembl 74_37 +1 known silent c.369 p.P123 0.976 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 PIM1 HGNC ENSG00000137193 338 0 0 171 30 14.9254 ZNF318 0 genome.wustl.edu 37 6 43333179 43333179 + Splice_Site SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 43333179 43333179 C G SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known splice_site c.400-1 e2-1 1.000 - - - no_errors ZNF318 HGNC ENSG00000171467 89 0 0 52 8 13.3333 DEFB110 0 genome.wustl.edu 37 6 49986840 49986840 + Splice_Site SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 6 49986840 49986840 T C SNP DEFB110 ENST00000371148 human ensembl 74_37 -1 known splice_site c.56-2 e2-2 1.000 - - - no_errors DEFB110 HGNC ENSG00000203970 123 0 0 107 14 11.5702 GIMAP5 0 genome.wustl.edu 37 7 150439921 150439921 + Silent SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 7 150439921 150439921 A C SNP GIMAP5 ENST00000358647 human ensembl 74_37 +1 known silent c.694 p.R232 0.000 superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP5 HGNC ENSG00000196329 115 0 0 63 15 19.2308 TRHR 0 genome.wustl.edu 37 8 110100010 110100010 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 8 110100010 110100010 C T SNP TRHR ENST00000311762 human ensembl 74_37 +1 known missense c.269 p.S90F 0.982 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 206 1 0.483092 121 42 25.7669 CYHR1 0 genome.wustl.edu 37 8 145689777 145689777 + Silent SNP G G C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 8 145689777 145689777 G C SNP CYHR1 ENST00000306145 human ensembl 74_37 -1 known silent c.312 p.G104 0.858 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 195 1 0.510204 97 43 30.7143 OPRK1 0 genome.wustl.edu 37 8 54142312 54142312 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 8 54142312 54142312 C T SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.688 p.V230I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 92 0 0 55 25 31.25 MFHAS1 0 genome.wustl.edu 37 8 8749729 8749729 + Silent SNP G G C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 8 8749729 8749729 G C SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known silent c.840 p.L280 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 64 0 0 34 4 10.5263 GABBR2 0 genome.wustl.edu 37 9 101470875 101470875 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 9 101470875 101470875 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.145 p.P49S 1.000 superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2 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 15 0 0 9 4 30.7692 GRIN3A 0 genome.wustl.edu 37 9 104433226 104433226 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 9 104433226 104433226 C A SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.1468 p.V490F 0.992 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 305 1 0.326797 142 66 31.7308 DFNB31 0 genome.wustl.edu 37 9 117186780 117186780 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 9 117186780 117186780 C A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.1250 p.S417I 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 44 0 0 19 10 34.4828 TRMT10B 0 genome.wustl.edu 37 9 37762114 37762114 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 9 37762114 37762114 G A SNP TRMT10B ENST00000377754 human ensembl 74_37 +1 novel missense c.10 p.G4S 1.000 NULL pfam_tRNA_m1G_MeTrfase - no_errors TRMT10B HGNC ENSG00000165275 52 0 0 20 4 16.6667 PCSK5 0 genome.wustl.edu 37 9 78936358 78936358 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 9 78936358 78936358 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.3824 p.G1275D 0.002 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 97 0 0 57 5 8.06452 MT-ND5 0 genome.wustl.edu 37 MT 13307 13307 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f MT 13307 13307 T C SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.971 p.L324P NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 8 0 0 0 4 100 GUCY2F 0 genome.wustl.edu 37 X 108718759 108718759 + Missense_Mutation SNP G G C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f X 108718759 108718759 G C SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.407 p.S136W 0.037 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 381 0 0 150 60 28.5714 RGAG4 0 genome.wustl.edu 37 X 71349753 71349753 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f X 71349753 71349753 G A SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known silent c.1638 p.R546 0.032 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 41 0 0 22 5 18.5185 RPS4X 0 genome.wustl.edu 37 X 71493691 71493691 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f X 71493691 71493691 C T SNP RPS4X ENST00000316084 human ensembl 74_37 -1 known silent c.492 p.L164 1.000 pfam_Ribosomal_S4e_central_region,pirsf_Ribosomal_S4e pfam_Ribosomal_S4e_central_region,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC ENSG00000198034 38 0 0 25 4 13.7931 MAPKAPK2 0 genome.wustl.edu 37 1 206904645 206904646 + RNA DEL GT GT - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 1 206904645 206904646 GT - DEL MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 35 0 0 19 3 13.6364 MMP10 0 genome.wustl.edu 37 11 102650395 102650395 + Frame_Shift_Del DEL T T - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 11 102650395 102650395 T - DEL MMP10 ENST00000279441 human ensembl 74_37 -1 known frame_shift_del c.187 p.I63fs 1.000 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 MMP10 HGNC ENSG00000166670 71 0 0 30 9 23.0769 GAS6 0 genome.wustl.edu 37 13 114542717 114542718 + Frame_Shift_Ins INS - - C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 13 114542717 114542718 - C INS GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_ins c.450_449 p.R151fs 0.842:0.997 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 270 1 0.369004 119 23 16.1972 VPS36 0 genome.wustl.edu 37 13 52999941 52999942 + RNA INS - - A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 13 52999941 52999942 - A INS VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors VPS36 HGNC ENSG00000136100 16 0 0 21 4 16 TLCD1 0 genome.wustl.edu 37 17 27051543 27051547 + Frame_Shift_Del DEL CTTGT CTTGT - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 CTTGT CTTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 27051543 27051547 CTTGT - DEL TLCD1 ENST00000292090 human ensembl 74_37 -1 known frame_shift_del c.729_725 p.D242fs 0.999:1.000:1.000:0.998:1.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 432 0 0 248 31 11.1111 TP53 0 genome.wustl.edu 37 17 7577560 7577560 + Frame_Shift_Del DEL A A - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 17 7577560 7577560 A - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.721 p.S241fs 0.999 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 138 0 0 46 14 23.3333 ZNF211 0 genome.wustl.edu 37 19 58153269 58153270 + Frame_Shift_Del DEL AG AG - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 19 58153269 58153270 AG - DEL ZNF211 ENST00000240731 human ensembl 74_37 +1 known frame_shift_del c.1454_1455 p.R486fs 0.008:0.013 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 ZNF211 HGNC ENSG00000121417 223 0 0 129 35 21.3415 ENSG00000224643 0 genome.wustl.edu 37 2 183948141 183948142 + RNA INS - - T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 183948141 183948142 - T INS ENSG00000224643 ENST00000444562 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC064871.3 Clone_based_vega_gene ENSG00000224643 21 0 0 21 5 19.2308 ITGAV 0 genome.wustl.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 2 187521084 187521085 - G INS ITGAV ENST00000261023 human ensembl 74_37 +1 known frame_shift_ins c.1675_1676 p.L562fs 0.568:0.609 pfam_Integrin_alpha-2 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 342 1 0.291545 93 70 42.9448 RBM6 0 genome.wustl.edu 37 3 50012778 50012779 + Frame_Shift_Del DEL CT CT - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 3 50012778 50012779 CT - DEL RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_del c.1436_1437 p.P479fs 0.899:0.746 smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 195 0 0 108 9 7.69231 HNRNPDL 0 genome.wustl.edu 37 4 83348624 83348625 + Frame_Shift_Ins INS - - T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 4 83348624 83348625 - T INS HNRNPDL ENST00000295470 human ensembl 74_37 -1 known frame_shift_ins c.868_867 p.L289fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 65 0 0 30 20 40 APC 0 genome.wustl.edu 37 5 112174471 112174471 + Frame_Shift_Del DEL A A - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f 5 112174471 112174471 A - DEL APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_del c.3180 p.K1061fs 0.999 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 72 0 0 27 17 38.6364