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 VAV3 0 genome.wustl.edu 37 1 108145689 108145689 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 108145689 108145689 T C SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known silent c.2112 p.G704 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 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,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 133 0 0 91 22 19.469 SYT6 0 genome.wustl.edu 37 1 114640394 114640394 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 114640394 114640394 G A SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known silent c.1470 p.I490 0.068 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 130 0 0 79 17 17.7083 SPAG17 0 genome.wustl.edu 37 1 118538991 118538991 + Splice_Site SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 118538991 118538991 A C SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known splice_site c.5053+2 e34+2 0.997 - - - no_errors SPAG17 HGNC ENSG00000155761 143 0 0 63 20 24.0964 BCL9 0 genome.wustl.edu 37 1 147092352 147092352 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 147092352 147092352 G T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.2391 p.L797F 0.995 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 68 0 0 28 22 44 HRNR 0 genome.wustl.edu 37 1 152186120 152186120 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 152186120 152186120 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.7985 p.L2662S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 70 0 0 53 5 8.62069 FLG 0 genome.wustl.edu 37 1 152275264 152275264 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 152275264 152275264 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.12098 p.N4033S 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 101 0 0 73 18 19.7802 OR6K6 0 genome.wustl.edu 37 1 158725554 158725554 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 158725554 158725554 T C SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.949 p.Y317H 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 175 0 0 82 5 5.74713 OR10J1 0 genome.wustl.edu 37 1 159410409 159410409 + Silent SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 159410409 159410409 C G SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known silent c.861 p.T287 0.016 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 OR10J1 HGNC ENSG00000196184 123 0 0 83 19 18.6275 NME7 0 genome.wustl.edu 37 1 169200055 169200055 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 169200055 169200055 G A SNP NME7 ENST00000367811 human ensembl 74_37 -1 known silent c.891 p.D297 0.387 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 50 0 0 38 8 17.3913 KIFAP3 0 genome.wustl.edu 37 1 170015873 170015873 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 170015873 170015873 C T SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known missense c.299 p.R100H 0.984 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 155 0 0 126 23 15.4362 CACNA1E 0 genome.wustl.edu 37 1 181701954 181701954 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 181701954 181701954 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.2732 p.R911Q 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 129 0 0 101 6 5.60748 ESRRG 0 genome.wustl.edu 37 1 216692635 216692635 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 216692635 216692635 T A SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.991 p.I331L 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 62 0 0 68 5 6.84932 RAB3GAP2 0 genome.wustl.edu 37 1 220324879 220324879 + RNA SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 220324879 220324879 C G SNP RAB3GAP2 ENST00000491005 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 90 0 0 80 22 21.5686 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin 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 304 1 0.327869 114 59 34.104 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 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 149 0 0 63 36 36.3636 ARID4B 0 genome.wustl.edu 37 1 235403717 235403717 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 235403717 235403717 T A SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.496 p.R166W 0.974 pfam_RBB1NT 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 55 0 0 36 9 20 FMN2 0 genome.wustl.edu 37 1 240371207 240371207 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 240371207 240371207 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3095 p.P1032L 0.415 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 45 0 0 27 5 15.625 OR2T34 0 genome.wustl.edu 37 1 248737167 248737167 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 248737167 248737167 G A SNP OR2T34 ENST00000328782 human ensembl 74_37 -1 known missense c.892 p.R298C 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 14 0 0 24 8 25 ZBTB8A 0 genome.wustl.edu 37 1 33060694 33060694 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 33060694 33060694 C A SNP ZBTB8A ENST00000373510 human ensembl 74_37 +1 known missense c.863 p.T288K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ENSG00000160062 115 0 0 67 28 29.4737 CSMD2 0 genome.wustl.edu 37 1 34071525 34071525 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 34071525 34071525 C T SNP CSMD2 ENST00000241312 human ensembl 74_37 -1 known missense c.6287 p.R2096K 0.086 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 46 0 0 32 4 11.1111 TMEM125 0 genome.wustl.edu 37 1 43738884 43738884 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 43738884 43738884 G A SNP TMEM125 ENST00000432792 human ensembl 74_37 +1 known missense c.491 p.G164D 0.663 NULL NULL - no_errors TMEM125 HGNC ENSG00000179178 53 0 0 38 5 11.6279 MPL 0 genome.wustl.edu 37 1 43815035 43815035 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 43815035 43815035 C T SNP MPL ENST00000413998 human ensembl 74_37 +1 known missense c.1570 p.R524C 0.020 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 120 0 0 79 6 7.05882 NASP 0 genome.wustl.edu 37 1 46073520 46073520 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 46073520 46073520 G A SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.943 p.E315K 0.779 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 92 0 0 59 12 16.9014 IFI44L 0 genome.wustl.edu 37 1 79093939 79093939 + Silent SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 79093939 79093939 G T SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known silent c.339 p.V113 0.000 NULL superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 44 0 0 41 4 8.88889 EVI5 0 genome.wustl.edu 37 1 92979379 92979379 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 1 92979379 92979379 C T SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known missense c.2300 p.G767D 0.127 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 95 0 0 96 9 8.57143 PWWP2B 0 genome.wustl.edu 37 10 134219456 134219456 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 134219456 134219456 C T SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known silent c.1452 p.D484 0.982 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 165 0 0 87 5 5.43478 PLXDC2 0 genome.wustl.edu 37 10 20506418 20506418 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 20506418 20506418 G A SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known missense c.1186 p.V396I 0.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 78 0 0 52 4 7.14286 THNSL1 0 genome.wustl.edu 37 10 25314060 25314060 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 25314060 25314060 G A SNP THNSL1 ENST00000376356 human ensembl 74_37 +1 known silent c.1908 p.G636 0.870 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like - no_errors THNSL1 HGNC ENSG00000185875 91 0 0 103 10 8.84956 CREM 0 genome.wustl.edu 37 10 35500714 35500714 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 35500714 35500714 C T SNP CREM ENST00000395895 human ensembl 74_37 +1 known missense c.1069 p.P357S 1.000 smart_bZIP pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 108 0 0 68 4 5.55556 PCDH15 0 genome.wustl.edu 37 10 55581798 55581798 + Silent SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 55581798 55581798 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.5688 p.V1896 0.785 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 172 0 0 155 29 15.7609 PCDH15 0 genome.wustl.edu 37 10 55581808 55581808 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 55581808 55581808 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5678 p.E1893G 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 189 0 0 166 27 13.9896 ANK3 0 genome.wustl.edu 37 10 61894095 61894095 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 61894095 61894095 C A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.2775 p.L925F 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 61 0 0 35 10 22.2222 TET1 0 genome.wustl.edu 37 10 70450738 70450738 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 70450738 70450738 G C SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5578 p.A1860P 0.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 143 0 0 77 32 29.3578 HELLS 0 genome.wustl.edu 37 10 96354483 96354483 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 96354483 96354483 G A SNP HELLS ENST00000371332 human ensembl 74_37 +1 known missense c.2258 p.R753K 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 77 0 0 36 33 47.8261 HOGA1 0 genome.wustl.edu 37 10 99371384 99371384 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 10 99371384 99371384 C T SNP HOGA1 ENST00000370646 human ensembl 74_37 +1 known missense c.952 p.R318C 0.997 pfam_DapA-like pfam_DapA-like,prints_DapA-like - no_errors HOGA1 HGNC ENSG00000241935 63 0 0 22 5 18.5185 GRIA4 0 genome.wustl.edu 37 11 105850358 105850358 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 105850358 105850358 G C SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known silent c.2601 p.V867 0.675 NULL 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 GRIA4 HGNC ENSG00000152578 128 0 0 71 22 23.6559 CUL5 0 genome.wustl.edu 37 11 107965145 107965145 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 107965145 107965145 A G SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.1471 p.N491D 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 79 0 0 55 17 23.6111 BUD13 0 genome.wustl.edu 37 11 116619288 116619288 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 116619288 116619288 G C SNP BUD13 ENST00000260210 human ensembl 74_37 -1 known silent c.1770 p.S590 1.000 pfam_Bud13 pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 108 0 0 51 18 26.087 ARHGEF12 0 genome.wustl.edu 37 11 120352120 120352120 + Silent SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 120352120 120352120 C A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known silent c.4332 p.S1444 0.394 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 102 1 0.970874 64 26 28.8889 OR8B3 0 genome.wustl.edu 37 11 124266663 124266663 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 124266663 124266663 G A SNP OR8B3 ENST00000354597 human ensembl 74_37 -1 known silent c.585 p.N195 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B3 HGNC ENSG00000196661 142 0 0 102 28 21.5385 GLB1L2 0 genome.wustl.edu 37 11 134238567 134238567 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 134238567 134238567 G A SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known missense c.919 p.D307N 0.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 95 0 0 74 15 16.8539 HIPK3 0 genome.wustl.edu 37 11 33375082 33375082 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 33375082 33375082 C A SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.3616 p.P1206T 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 109 0 0 83 8 8.79121 F2 0 genome.wustl.edu 37 11 46750965 46750965 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 46750965 46750965 G C SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1508 p.G503A 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1,prints_Prothrombin/thrombin pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 168 0 0 76 22 22.449 LRP4 0 genome.wustl.edu 37 11 46912013 46912013 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 46912013 46912013 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.1730 p.P577L 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 50 0 0 38 8 17.3913 TNKS1BP1 0 genome.wustl.edu 37 11 57080878 57080878 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 57080878 57080878 G A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known silent c.1284 p.F428 0.998 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 62 0 0 41 9 18 FADS2 0 genome.wustl.edu 37 11 61605257 61605257 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 61605257 61605257 T C SNP FADS2 ENST00000278840 human ensembl 74_37 +1 known missense c.215 p.F72S 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS2 HGNC ENSG00000134824 34 0 0 13 3 18.75 OR6A2 0 genome.wustl.edu 37 11 6816802 6816802 + Silent SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 6816802 6816802 G T SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known silent c.138 p.I46 0.457 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 OR6A2 HGNC ENSG00000184933 111 0 0 99 27 21.4286 IGHMBP2 0 genome.wustl.edu 37 11 68679026 68679026 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 68679026 68679026 G C SNP IGHMBP2 ENST00000539224 human ensembl 74_37 +1 novel missense c.568 p.D190H 1.000 NULL NULL - no_errors IGHMBP2 HGNC ENSG00000132740 118 0 0 64 13 16.8831 C11orf30 0 genome.wustl.edu 37 11 76255390 76255390 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 76255390 76255390 C T SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known missense c.2797 p.P933S 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 105 0 0 68 26 27.6596 FAT3 0 genome.wustl.edu 37 11 92087849 92087849 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 92087849 92087849 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2571 p.D857E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 96 0 0 45 19 29.6875 CNTN5 0 genome.wustl.edu 37 11 99690317 99690317 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 99690317 99690317 C A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.98 p.A33D 0.998 NULL 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 CNTN5 HGNC ENSG00000149972 154 0 0 90 8 8.16327 UBE3B 0 genome.wustl.edu 37 12 109972568 109972568 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 109972568 109972568 C T SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.3188 p.T1063M 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 126 0 0 61 7 10.2941 GLTP 0 genome.wustl.edu 37 12 110318161 110318161 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 110318161 110318161 G A SNP GLTP ENST00000318348 human ensembl 74_37 -1 known missense c.19 p.H7Y 1.000 NULL pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTP HGNC ENSG00000139433 55 0 0 19 6 24 TCHP 0 genome.wustl.edu 37 12 110350867 110350867 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 110350867 110350867 T A SNP TCHP ENST00000312777 human ensembl 74_37 +1 known missense c.1124 p.L375Q 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 77 0 0 31 7 18.4211 RPLP0 0 genome.wustl.edu 37 12 120635143 120635143 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 120635143 120635143 G C SNP RPLP0 ENST00000228306 human ensembl 74_37 -1 known silent c.774 p.T258 1.000 pfam_Ribosomal_L10/L12 pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_L10/L12 - no_errors RPLP0 HGNC ENSG00000089157 78 0 0 40 12 23.0769 LOH12CR1 0 genome.wustl.edu 37 12 12588569 12588569 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 12588569 12588569 G C SNP LOH12CR1 ENST00000314565 human ensembl 74_37 +1 known missense c.210 p.L70F 1.000 pfam_Tumour_suppressor_LOH1CR12 pfam_Tumour_suppressor_LOH1CR12 - no_errors LOH12CR1 HGNC ENSG00000165714 73 0 0 56 8 12.5 GPRC5A 0 genome.wustl.edu 37 12 13061936 13061936 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 13061936 13061936 C T SNP GPRC5A ENST00000014914 human ensembl 74_37 +1 known silent c.753 p.A251 0.997 pfam_GPCR_3_C pfam_GPCR_3_C - no_errors GPRC5A HGNC ENSG00000013588 83 0 0 73 13 15.1163 PDE3A 0 genome.wustl.edu 37 12 20709624 20709624 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 20709624 20709624 C G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.991 p.R331G 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 149 1 0.666667 63 10 13.6986 CPNE8 0 genome.wustl.edu 37 12 39047804 39047804 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 39047804 39047804 T C SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known silent c.1575 p.K525 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 50 0 0 48 9 15.7895 CSRNP2 0 genome.wustl.edu 37 12 51470289 51470289 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 51470289 51470289 C T SNP CSRNP2 ENST00000228515 human ensembl 74_37 -1 known missense c.56 p.G19D 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 180 0 0 101 17 14.4068 KCNA5 0 genome.wustl.edu 37 12 5154411 5154411 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 5154411 5154411 C A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.1098 p.F366L 0.997 pfam_Ion_trans_dom,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,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 148 0 0 96 31 24.4094 KRT73 0 genome.wustl.edu 37 12 53009973 53009973 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 53009973 53009973 T A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.639 p.E213D 0.023 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 169 0 0 85 26 23.4234 ESYT1 0 genome.wustl.edu 37 12 56525997 56525997 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 56525997 56525997 C T SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.865 p.L289F 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 389 0 0 223 54 19.4946 SMARCC2 0 genome.wustl.edu 37 12 56559122 56559122 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 56559122 56559122 A C SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.3119 p.V1040G 0.997 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 136 0 0 75 18 19.3548 COQ10A 0 genome.wustl.edu 37 12 56664067 56664067 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 56664067 56664067 G A SNP COQ10A ENST00000308197 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 NULL pfam_Polyket_cyc - no_errors COQ10A HGNC ENSG00000135469 196 0 0 108 22 16.9231 MIP 0 genome.wustl.edu 37 12 56846841 56846841 + RNA SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 12 56846841 56846841 T C SNP MIP ENST00000555551 human ensembl 74_37 -1 known rna NULL NULL 0.341 - - - no_errors MIP HGNC ENSG00000135517 110 1 0.900901 48 11 18.6441 NALCN 0 genome.wustl.edu 37 13 101717887 101717887 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 13 101717887 101717887 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.4473 p.K1491 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 127 0 0 58 20 25.641 ATP8A2 0 genome.wustl.edu 37 13 26542759 26542759 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 13 26542759 26542759 C A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.3319 p.L1107M 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 45 0 0 24 5 17.2414 PCDH9 0 genome.wustl.edu 37 13 67800353 67800353 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 13 67800353 67800353 T C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.2220 p.K740 0.921 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 130 0 0 91 18 16.5138 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 22 0 0 9 15 62.5 SLITRK6 0 genome.wustl.edu 37 13 86370408 86370408 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 13 86370408 86370408 A C SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.236 p.L79R 0.960 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 267 0 0 159 34 17.6166 GPC5 0 genome.wustl.edu 37 13 93518574 93518574 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 13 93518574 93518574 T G SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1601 p.I534S 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 97 0 0 96 19 16.5217 CHD8 0 genome.wustl.edu 37 14 21862288 21862288 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 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 67 0 0 56 18 24.3243 NUBPL 0 genome.wustl.edu 37 14 32034253 32034253 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 14 32034253 32034253 C T SNP NUBPL ENST00000281081 human ensembl 74_37 +1 known missense c.290 p.S97L 1.000 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase - no_errors NUBPL HGNC ENSG00000151413 107 1 0.925926 51 18 26.087 SRP54 0 genome.wustl.edu 37 14 35483028 35483028 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 14 35483028 35483028 C T SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.806 p.P269L 1.000 pfam_SRP54_GTPase_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 136 0 0 83 17 17 SPTB 0 genome.wustl.edu 37 14 65251009 65251009 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 14 65251009 65251009 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.3958 p.A1320T 1.000 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 117 0 0 76 25 24.7525 OCA2 0 genome.wustl.edu 37 15 28260028 28260028 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 15 28260028 28260028 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.938 p.A313V 0.000 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 52 0 0 30 8 21.0526 TJP1 0 genome.wustl.edu 37 15 30019161 30019161 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 15 30019161 30019161 G T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.2135 p.A712E 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like 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 147 0 0 112 24 17.6471 THBS1 0 genome.wustl.edu 37 15 39874701 39874701 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 15 39874701 39874701 G A SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known silent c.375 p.A125 0.972 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 50 0 0 32 3 8.57143 FBN1 0 genome.wustl.edu 37 15 48829849 48829849 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 15 48829849 48829849 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.695 p.R232H 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 139 0 0 101 19 15.8333 GABPB1 0 genome.wustl.edu 37 15 50570977 50570977 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 15 50570977 50570977 C G SNP GABPB1 ENST00000220429 human ensembl 74_37 -1 known missense c.1040 p.R347T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB1 HGNC ENSG00000104064 66 0 0 67 5 6.94444 UNC13C 0 genome.wustl.edu 37 15 54307303 54307303 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 15 54307303 54307303 G T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2203 p.V735F 0.891 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 25 0 0 16 6 27.2727 HERC1 0 genome.wustl.edu 37 15 63984726 63984726 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 15 63984726 63984726 C A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.5714 p.G1905V 1.000 superfamily_ARM-type_fold pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 52 0 0 28 12 30 SNUPN 0 genome.wustl.edu 37 15 75901916 75901916 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 15 75901916 75901916 C T SNP SNUPN ENST00000371091 human ensembl 74_37 -1 known missense c.611 p.R204Q 0.280 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 109 0 0 76 5 6.17284 KIAA0430 0 genome.wustl.edu 37 16 15719275 15719275 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 16 15719275 15719275 G C SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.1907 p.A636G 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 143 0 0 84 17 16.8317 DNAH3 0 genome.wustl.edu 37 16 21108730 21108730 + Nonsense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 16 21108730 21108730 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known nonsense c.2611 p.Q871* 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 227 0 0 120 29 19.4631 CCNF 0 genome.wustl.edu 37 16 2482985 2482985 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 16 2482985 2482985 G C SNP CCNF ENST00000397066 human ensembl 74_37 +1 known silent c.195 p.L65 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 37 0 0 17 4 19.0476 CDH1 0 genome.wustl.edu 37 16 68847282 68847282 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 16 68847282 68847282 G C SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.1204 p.D402H 0.974 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 218 1 0.456621 170 14 7.6087 GLG1 0 genome.wustl.edu 37 16 74524978 74524978 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 16 74524978 74524978 C T SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.1370 p.R457Q 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 164 0 0 118 35 22.8758 ENSG00000260276 0 genome.wustl.edu 37 16 8948932 8948932 + RNA SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 16 8948932 8948932 C T SNP ENSG00000260276 ENST00000565934 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-77H9.2 Clone_based_vega_gene ENSG00000260276 18 0 0 12 6 33.3333 COX10 0 genome.wustl.edu 37 17 14110524 14110524 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 14110524 14110524 C T SNP COX10 ENST00000261643 human ensembl 74_37 +1 known silent c.1326 p.P442 0.000 pirsf_Protohaem_IX_farnesylTrfase_mt pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 24 0 0 17 16 48.4848 SCARF1 0 genome.wustl.edu 37 17 1538386 1538386 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 1538386 1538386 G T SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.2159 p.A720E 0.058 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 70 0 0 41 15 26.7857 FLCN 0 genome.wustl.edu 37 17 17119728 17119728 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 17119728 17119728 C T SNP FLCN ENST00000285071 human ensembl 74_37 -1 known silent c.1266 p.P422 0.002 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 51 0 0 22 3 12 MLLT6 0 genome.wustl.edu 37 17 36865461 36865461 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 36865461 36865461 C A SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known missense c.390 p.S130R 1.000 smart_Znf_PHD,pfscan_Znf_PHD-finger superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 292 0 0 175 36 17.0616 ZZEF1 0 genome.wustl.edu 37 17 3920947 3920947 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 3920947 3920947 G A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known silent c.7719 p.S2573 0.353 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 97 0 0 76 20 20.8333 KRTAP4-7 0 genome.wustl.edu 37 17 39240780 39240780 + Missense_Mutation SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 39240780 39240780 A T SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known missense c.322 p.T108S 0.651 NULL pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 35 0 0 14 8 36.3636 STAT3 0 genome.wustl.edu 37 17 40476813 40476813 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 40476813 40476813 C T SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known missense c.1516 p.E506K 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 121 0 0 74 5 6.32911 PTRF 0 genome.wustl.edu 37 17 40557205 40557205 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 40557205 40557205 C T SNP PTRF ENST00000357037 human ensembl 74_37 -1 known missense c.673 p.G225S 1.000 NULL NULL - no_errors PTRF HGNC ENSG00000177469 257 1 0.387597 134 29 17.7914 SPATA20 0 genome.wustl.edu 37 17 48628510 48628510 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 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 61 0 0 16 10 38.4615 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 61 0 0 17 10 37.037 DNAH17 0 genome.wustl.edu 37 17 76563093 76563093 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 76563093 76563093 G C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.1440 p.D480E 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 62 0 0 18 5 21.7391 ALOXE3 0 genome.wustl.edu 37 17 8012632 8012632 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 8012632 8012632 G A SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known silent c.1818 p.I606 0.995 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 51 0 0 28 12 30 NDEL1 0 genome.wustl.edu 37 17 8370505 8370505 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 8370505 8370505 C T SNP NDEL1 ENST00000585098 human ensembl 74_37 +1 putative missense c.208 p.P70S 0.986 NULL NULL - no_errors NDEL1 HGNC ENSG00000166579 11 0 0 22 2 8.33333 POTEC 0 genome.wustl.edu 37 18 14543280 14543280 + RNA SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 18 14543280 14543280 C G SNP POTEC ENST00000389891 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors POTEC HGNC ENSG00000183206 11 0 0 9 4 30.7692 OSBPL1A 0 genome.wustl.edu 37 18 21751427 21751427 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 18 21751427 21751427 C T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.2237 p.C746Y 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 139 0 0 126 9 6.66667 DSC2 0 genome.wustl.edu 37 18 28651610 28651610 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 18 28651610 28651610 C A SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.2086 p.A696S 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 77 0 0 48 14 22.5806 DCC 0 genome.wustl.edu 37 18 50734058 50734058 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 18 50734058 50734058 G T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1732 p.V578F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 78 0 0 83 15 15.3061 ZNF236 0 genome.wustl.edu 37 18 74625805 74625805 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 18 74625805 74625805 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.3006 p.R1002 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 99 0 0 72 4 5.26316 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 55 0 0 17 23 57.5 LDLR 0 genome.wustl.edu 37 19 11224398 11224398 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 11224398 11224398 G A SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.1546 p.G516S 0.101 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,pfam_EGF-like_Ca-bd_dom,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 LDLR HGNC ENSG00000130164 88 0 0 49 14 22.2222 NR2F6 0 genome.wustl.edu 37 19 17355924 17355924 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 17355924 17355924 G A SNP NR2F6 ENST00000291442 human ensembl 74_37 -1 known missense c.106 p.P36S 1.000 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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2F6 HGNC ENSG00000160113 10 0 0 4 3 42.8571 ZNF431 0 genome.wustl.edu 37 19 21365482 21365482 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 21365482 21365482 T A SNP ZNF431 ENST00000311048 human ensembl 74_37 +1 known missense c.376 p.F126I 0.007 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF431 HGNC ENSG00000196705 80 0 0 49 15 23.4375 UBA2 0 genome.wustl.edu 37 19 34935939 34935939 + Silent SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 34935939 34935939 A C SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known silent c.684 p.A228 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 137 0 0 92 28 23.3333 ERF 0 genome.wustl.edu 37 19 42753283 42753283 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 42753283 42753283 G A SNP ERF ENST00000222329 human ensembl 74_37 -1 known silent c.981 p.S327 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 76 0 0 42 4 8.69565 HIF3A 0 genome.wustl.edu 37 19 46823702 46823702 + Splice_Site SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 46823702 46823702 A G SNP HIF3A ENST00000528563 human ensembl 74_37 +1 known splice_site c.210-2 e3-2 0.987 - - - no_errors HIF3A HGNC ENSG00000124440 155 0 0 92 67 42.1384 HIF3A 0 genome.wustl.edu 37 19 46823751 46823751 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 46823751 46823751 C T SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known silent c.1077 p.H359 0.534 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 183 0 0 96 90 48.3871 PNMAL2 0 genome.wustl.edu 37 19 46998642 46998642 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 46998642 46998642 C T SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known silent c.81 p.P27 0.046 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 90 0 0 74 6 7.5 SCAF1 0 genome.wustl.edu 37 19 50156700 50156700 + Silent SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 50156700 50156700 A C SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known silent c.3054 p.R1018 0.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 10 0 0 10 5 33.3333 ZNF83 0 genome.wustl.edu 37 19 53122002 53122002 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 53122002 53122002 T C SNP ZNF83 ENST00000595939 human ensembl 74_37 -1 known silent c.159 p.S53 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF83 HGNC ENSG00000167766 12 0 0 15 10 40 ZNF83 0 genome.wustl.edu 37 19 53122219 53122219 + Silent SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 53122219 53122219 A G SNP ZNF83 ENST00000594682 human ensembl 74_37 -1 known silent c.112 p.L38 0.478 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF83 HGNC ENSG00000167766 252 0 0 185 40 17.7778 ZNF83 0 genome.wustl.edu 37 19 53122229 53122229 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 53122229 53122229 T C SNP ZNF83 ENST00000594682 human ensembl 74_37 -1 known silent c.102 p.R34 0.025 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF83 HGNC ENSG00000167766 244 0 0 172 42 19.6262 ZNF415 0 genome.wustl.edu 37 19 53612111 53612111 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 53612111 53612111 G T SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known missense c.1331 p.T444N 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 61 0 0 69 18 20.6897 ZNF813 0 genome.wustl.edu 37 19 53994018 53994018 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 53994018 53994018 C G SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.532 p.Q178E 0.010 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 327 0 0 175 37 17.4528 NLRP12 0 genome.wustl.edu 37 19 54313707 54313707 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 54313707 54313707 G C SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1206 p.F402L 0.451 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 443 0 0 284 200 41.3223 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 404 0 0 182 17 8.54271 FCAR 0 genome.wustl.edu 37 19 55401170 55401170 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 55401170 55401170 A G SNP FCAR ENST00000355524 human ensembl 74_37 +1 known missense c.805 p.S269G 0.000 NULL smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 386 2 0.515464 241 198 45.1025 FUT6 0 genome.wustl.edu 37 19 5831739 5831739 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 5831739 5831739 G A SNP FUT6 ENST00000592563 human ensembl 74_37 -1 known silent c.840 p.Y280 0.475 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 60 0 0 69 20 22.4719 MZF1 0 genome.wustl.edu 37 19 59073782 59073782 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 59073782 59073782 C T SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.1862 p.G621D 0.722 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 24 0 0 7 4 36.3636 STXBP2 0 genome.wustl.edu 37 19 7704638 7704638 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 7704638 7704638 G A SNP STXBP2 ENST00000221283 human ensembl 74_37 +1 known missense c.191 p.R64Q 0.998 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 43 0 0 19 6 24 OR7D2 0 genome.wustl.edu 37 19 9297113 9297113 + Nonsense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 19 9297113 9297113 C G SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known nonsense c.656 p.S219* 0.002 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 OR7D2 HGNC ENSG00000188000 134 0 0 96 29 23.2 MFSD9 0 genome.wustl.edu 37 2 103335079 103335079 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 2 103335079 103335079 C T SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known missense c.1225 p.G409S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 42 0 0 41 14 25.4545 CKAP2L 0 genome.wustl.edu 37 2 113514603 113514603 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 2 113514603 113514603 C T SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known silent c.345 p.K115 0.172 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 290 0 0 191 48 20.0837 SCN3A 0 genome.wustl.edu 37 2 166011006 166011006 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 2 166011006 166011006 G T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.1336 p.Q446K 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 106 0 0 83 14 14.433 STK39 0 genome.wustl.edu 37 2 169018346 169018346 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 2 169018346 169018346 C A SNP STK39 ENST00000355999 human ensembl 74_37 -1 known missense c.579 p.L193F 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,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK39 HGNC ENSG00000198648 39 0 0 38 5 11.6279 WDR35 0 genome.wustl.edu 37 2 20166586 20166586 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 2 20166586 20166586 T A SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.1093 p.N365Y 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 71 0 0 56 16 22.2222 PUM2 0 genome.wustl.edu 37 2 20507793 20507793 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 2 20507793 20507793 T G SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known missense c.829 p.T277P 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 132 0 0 72 18 20 ECEL1 0 genome.wustl.edu 37 2 233350955 233350955 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 2 233350955 233350955 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.409 p.R137C 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 26 0 0 19 6 24 ENTPD6 0 genome.wustl.edu 37 20 25187932 25187932 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 25187932 25187932 G A SNP ENTPD6 ENST00000376652 human ensembl 74_37 +1 known missense c.275 p.G92E 0.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD6 HGNC ENSG00000197586 79 0 0 36 7 16.2791 CCM2L 0 genome.wustl.edu 37 20 30605902 30605902 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 30605902 30605902 C A SNP CCM2L ENST00000300415 human ensembl 74_37 +1 known missense c.403 p.H135N 1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 27 0 0 19 7 26.9231 CEP250 0 genome.wustl.edu 37 20 34063452 34063452 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 34063452 34063452 T G SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.1697 p.V566G 0.990 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 232 0 0 116 22 15.942 SEMG2 0 genome.wustl.edu 37 20 43851445 43851445 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 43851445 43851445 G C SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.1172 p.R391T 0.001 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 186 0 0 131 15 10.274 SEMG2 0 genome.wustl.edu 37 20 43851491 43851491 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 43851491 43851491 A G SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.1218 p.I406M 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 170 0 0 122 14 10.2941 SEMG2 0 genome.wustl.edu 37 20 43851594 43851594 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 43851594 43851594 A C SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.1321 p.K441Q 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 176 0 0 138 9 6.12245 SEMG2 0 genome.wustl.edu 37 20 43851686 43851686 + Silent SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 43851686 43851686 A G SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known silent c.1413 p.S471 0.003 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 151 0 0 134 8 5.6338 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 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 116 1 0.854701 64 48 42.8571 CHRNA4 0 genome.wustl.edu 37 20 61990948 61990948 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 61990948 61990948 G T SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.180 p.D60E 0.987 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,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 CHRNA4 HGNC ENSG00000101204 111 0 0 41 21 33.871 KRTAP24-1 0 genome.wustl.edu 37 21 31654953 31654953 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 21 31654953 31654953 C A SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known missense c.298 p.A100S 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 106 0 0 60 21 25.9259 KRTAP27-1 0 genome.wustl.edu 37 21 31709591 31709591 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 21 31709591 31709591 T G SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known missense c.396 p.Q132H 0.145 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 327 1 0.304878 183 44 19.3833 TIAM1 0 genome.wustl.edu 37 21 32624274 32624274 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 21 32624274 32624274 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.1195 p.E399K 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 103 0 0 71 12 14.4578 HLCS 0 genome.wustl.edu 37 21 38128941 38128941 + Silent SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 21 38128941 38128941 G T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known silent c.1911 p.I637 0.996 tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 205 1 0.485437 117 24 17.0213 U2AF1 0 genome.wustl.edu 37 21 44514835 44514835 + Nonsense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 21 44514835 44514835 G A SNP U2AF1 ENST00000291552 human ensembl 74_37 -1 known nonsense c.412 p.Q138* 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 53 0 0 41 12 22.6415 SLC7A4 0 genome.wustl.edu 37 22 21385491 21385491 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 22 21385491 21385491 A C SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.611 p.L204R 0.152 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 117 0 0 52 7 11.8644 ENSG00000231933 0 genome.wustl.edu 37 22 26291091 26291091 + RNA SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 22 26291091 26291091 C G SNP ENSG00000231933 ENST00000453457 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-125H2.2 Clone_based_vega_gene ENSG00000231933 28 0 0 20 3 13.0435 TRIOBP 0 genome.wustl.edu 37 22 38111817 38111817 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 22 38111817 38111817 C G SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.504 p.D168E 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 58 0 0 44 5 10.2041 DNAL4 0 genome.wustl.edu 37 22 39176888 39176888 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 22 39176888 39176888 G T SNP DNAL4 ENST00000406199 human ensembl 74_37 -1 putative missense c.196 p.P66T 0.090 NULL NULL - no_errors DNAL4 HGNC ENSG00000100246 36 0 0 14 4 22.2222 APOBEC3H 0 genome.wustl.edu 37 22 39498015 39498015 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 22 39498015 39498015 C G SNP APOBEC3H ENST00000442487 human ensembl 74_37 +1 known missense c.511 p.R171G 0.000 pfam_APOBEC_C pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 88 0 0 38 18 32.1429 GRAP2 0 genome.wustl.edu 37 22 40365500 40365500 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 22 40365500 40365500 G A SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known missense c.776 p.R259Q 0.998 NULL pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 103 0 0 49 18 26.8657 SMC4 0 genome.wustl.edu 37 3 160148502 160148502 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 160148502 160148502 G A SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.2911 p.E971K 0.989 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 98 0 0 60 11 15.493 SMC4 0 genome.wustl.edu 37 3 160150896 160150896 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 160150896 160150896 T G SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.3613 p.F1205V 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 150 0 0 109 24 18.0451 MCCC1 0 genome.wustl.edu 37 3 182733324 182733324 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 182733324 182733324 C T SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known missense c.2080 p.V694I 0.376 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl 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,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 250 0 0 148 37 20 C3orf70 0 genome.wustl.edu 37 3 184801261 184801261 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 184801261 184801261 T G SNP C3orf70 ENST00000335012 human ensembl 74_37 -1 known missense c.287 p.Q96P 1.000 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 156 0 0 101 21 17.2131 BCL6 0 genome.wustl.edu 37 3 187447510 187447510 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 187447510 187447510 C T SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.683 p.R228Q 0.996 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 BCL6 HGNC ENSG00000113916 52 0 0 31 9 22.5 MUC20 0 genome.wustl.edu 37 3 195451883 195451883 + Nonsense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 195451883 195451883 G T SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known nonsense c.409 p.E137* 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 284 0 0 134 12 8.21918 CRBN 0 genome.wustl.edu 37 3 3192625 3192625 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 3192625 3192625 G A SNP CRBN ENST00000231948 human ensembl 74_37 -1 known missense c.1253 p.T418M 1.000 NULL pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 48 0 0 36 9 20 SUSD5 0 genome.wustl.edu 37 3 33194911 33194911 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 33194911 33194911 C T SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known missense c.1213 p.V405I 0.000 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 38 0 0 25 7 21.875 LRRFIP2 0 genome.wustl.edu 37 3 37114295 37114295 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 37114295 37114295 C G SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known missense c.1450 p.D484H 1.000 pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 66 0 0 61 8 11.5942 SNRK 0 genome.wustl.edu 37 3 43389767 43389767 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 43389767 43389767 G T SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.2016 p.L672F 0.198 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 SNRK HGNC ENSG00000163788 150 0 0 85 20 19.0476 CELSR3 0 genome.wustl.edu 37 3 48677857 48677857 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 48677857 48677857 C A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.9176 p.G3059V 0.882 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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 CELSR3 HGNC ENSG00000008300 153 0 0 62 4 6.06061 CELSR3 0 genome.wustl.edu 37 3 48683606 48683606 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 48683606 48683606 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.7395 p.E2465 0.999 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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 CELSR3 HGNC ENSG00000008300 57 0 0 25 9 26.4706 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 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 235 0 0 67 39 36.7925 NISCH 0 genome.wustl.edu 37 3 52521725 52521725 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 52521725 52521725 C T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.2217 p.F739 0.998 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 131 0 0 72 22 23.4043 ARL13B 0 genome.wustl.edu 37 3 93768322 93768322 + Missense_Mutation SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 93768322 93768322 A T SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known missense c.1097 p.D366V 0.897 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 100 0 0 59 21 26.25 EPHA6 0 genome.wustl.edu 37 3 97185297 97185297 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 97185297 97185297 T A SNP EPHA6 ENST00000502694 human ensembl 74_37 +1 known missense c.41 p.L14H 0.004 NULL 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 - no_errors EPHA6 HGNC ENSG00000080224 102 0 0 43 11 20.3704 JAGN1 0 genome.wustl.edu 37 3 9934908 9934908 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 9934908 9934908 C T SNP JAGN1 ENST00000307768 human ensembl 74_37 +1 known silent c.399 p.G133 1.000 pfam_Jagunal pfam_Jagunal - no_errors JAGN1 HGNC ENSG00000171135 153 0 0 81 13 13.8298 FAT4 0 genome.wustl.edu 37 4 126369708 126369708 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 4 126369708 126369708 T A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.7537 p.F2513I 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 90 0 0 86 6 6.52174 PDGFRA 0 genome.wustl.edu 37 4 55133725 55133725 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 4 55133725 55133725 G T SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.938 p.G313V 0.997 pirsf_Tyr_kinase_CSF1/PDGF_rcpt 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 99 0 0 80 9 10.1124 TMEM165 0 genome.wustl.edu 37 4 56277800 56277800 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 4 56277800 56277800 C T SNP TMEM165 ENST00000381334 human ensembl 74_37 +1 known missense c.227 p.A76V 0.996 NULL pfam_UPF0016 - no_errors TMEM165 HGNC ENSG00000134851 62 0 0 52 11 17.4603 HERC5 0 genome.wustl.edu 37 4 89388332 89388332 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 4 89388332 89388332 C T SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.1034 p.S345L 0.324 pfam_Reg_chr_condens,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 152 0 0 72 22 23.4043 MMRN1 0 genome.wustl.edu 37 4 90856716 90856716 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 4 90856716 90856716 G C SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.1885 p.D629H 1.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 138 0 0 111 21 15.9091 PDHA2 0 genome.wustl.edu 37 4 96762399 96762399 + Silent SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 4 96762399 96762399 C A SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known silent c.1098 p.I366 0.998 tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 117 0 0 77 23 23 PKD2L2 0 genome.wustl.edu 37 5 137271538 137271538 + Missense_Mutation SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 137271538 137271538 A T SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known missense c.1724 p.K575M 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 158 0 0 61 15 19.7368 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 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 195 1 0.510204 70 43 38.0531 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 194 0 0 68 64 48.4848 PCDHA1 0 genome.wustl.edu 37 5 140167716 140167716 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 140167716 140167716 C A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1841 p.A614E 0.001 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 PCDHA1 HGNC ENSG00000204970 188 0 0 87 22 20.1835 ARAP3 0 genome.wustl.edu 37 5 141053171 141053171 + Splice_Site SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 141053171 141053171 C A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known splice_site c.902+1 e4+1 1.000 - - - no_errors ARAP3 HGNC ENSG00000120318 154 0 0 77 15 16.3043 FAF2 0 genome.wustl.edu 37 5 175919208 175919208 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 175919208 175919208 T G SNP FAF2 ENST00000261942 human ensembl 74_37 +1 known missense c.358 p.F120V 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 195 0 0 111 33 22.9167 PRDM9 0 genome.wustl.edu 37 5 23521209 23521209 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 23521209 23521209 T A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.429 p.S143R 0.000 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 130 1 0.763359 70 13 15.6627 PRKAA1 0 genome.wustl.edu 37 5 40764627 40764627 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 40764627 40764627 C T SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known missense c.1469 p.R490H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 32 0 0 32 7 17.9487 PIK3R1 0 genome.wustl.edu 37 5 67589663 67589663 + Splice_Site SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 67589663 67589663 G A SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known splice_site c.1425+1 e10+1 1.000 - - - no_errors PIK3R1 HGNC ENSG00000145675 73 0 0 62 16 20.5128 RAD17 0 genome.wustl.edu 37 5 68692242 68692242 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 68692242 68692242 G A SNP RAD17 ENST00000380774 human ensembl 74_37 +1 known missense c.1474 p.E492K 1.000 tigrfam_Checkpoint_prot_Rad24_fun/met superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 47 0 0 30 4 11.7647 ACOT12 0 genome.wustl.edu 37 5 80655815 80655815 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 5 80655815 80655815 C T SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known missense c.403 p.V135M 0.121 NULL pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 73 0 0 47 10 17.5439 ASCC3 0 genome.wustl.edu 37 6 101094585 101094585 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 101094585 101094585 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.3539 p.P1180L 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 62 0 0 47 8 14.5455 RTN4IP1 0 genome.wustl.edu 37 6 107019880 107019880 + Silent SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 107019880 107019880 A G SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known silent c.1182 p.N394 0.336 NULL pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 82 0 0 54 13 19.403 RTN4IP1 0 genome.wustl.edu 37 6 107076783 107076783 + Silent SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 107076783 107076783 A T SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known silent c.114 p.P38 0.000 NULL pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 147 0 0 112 29 20.5674 QRSL1 0 genome.wustl.edu 37 6 107100220 107100220 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 107100220 107100220 A G SNP QRSL1 ENST00000369046 human ensembl 74_37 +1 known missense c.694 p.I232V 1.000 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 148 0 0 100 24 19.3548 QRSL1 0 genome.wustl.edu 37 6 107100396 107100396 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 107100396 107100396 A G SNP QRSL1 ENST00000369046 human ensembl 74_37 +1 known missense c.788 p.N263S 0.040 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 117 0 0 84 30 26.3158 SEC63 0 genome.wustl.edu 37 6 108234618 108234618 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 108234618 108234618 C T SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.466 p.E156K 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 228 0 0 123 34 21.6561 TUBE1 0 genome.wustl.edu 37 6 112393234 112393234 + Nonsense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 112393234 112393234 C T SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known nonsense c.1140 p.W380* 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_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_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 125 0 0 78 18 18.75 SERINC1 0 genome.wustl.edu 37 6 122766247 122766247 + Missense_Mutation SNP A A T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 122766247 122766247 A T SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known missense c.1304 p.V435E 0.982 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 71 0 0 49 10 16.9492 SFT2D1 0 genome.wustl.edu 37 6 166736403 166736403 + RNA SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 166736403 166736403 C T SNP SFT2D1 ENST00000479490 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SFT2D1 HGNC ENSG00000198818 106 0 0 54 8 12.9032 HIST1H2AG 0 genome.wustl.edu 37 6 27100904 27100904 + Silent SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 27100904 27100904 C G SNP HIST1H2AG ENST00000359193 human ensembl 74_37 +1 known silent c.54 p.R18 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AG HGNC ENSG00000196787 120 0 0 47 20 29.8507 OR5V1 0 genome.wustl.edu 37 6 29323142 29323142 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 29323142 29323142 C A SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.831 p.L277F 0.038 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 OR5V1 HGNC ENSG00000243729 208 0 0 159 34 17.6166 DNAH8 0 genome.wustl.edu 37 6 38835970 38835970 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 38835970 38835970 C A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.6175 p.L2059M 0.992 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 69 0 0 45 15 25 BAI3 0 genome.wustl.edu 37 6 69348940 69348940 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 69348940 69348940 A G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.373 p.K125E 1.000 pfscan_CUB_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 53 0 0 42 16 27.5862 RIMS1 0 genome.wustl.edu 37 6 72678732 72678732 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 72678732 72678732 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.211 p.R71G 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 141 0 0 99 28 22.0472 DDX43 0 genome.wustl.edu 37 6 74123758 74123758 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 74123758 74123758 G C SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known missense c.1562 p.R521T 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 82 0 0 45 12 21.0526 SLC17A5 0 genome.wustl.edu 37 6 74351547 74351547 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 74351547 74351547 C T SNP SLC17A5 ENST00000355773 human ensembl 74_37 -1 known missense c.392 p.S131N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 236 0 0 165 40 19.5122 BMP6 0 genome.wustl.edu 37 6 7880471 7880471 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 7880471 7880471 G A SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known silent c.1437 p.A479 0.015 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 260 0 0 148 39 20.8556 PGM3 0 genome.wustl.edu 37 6 83900610 83900610 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 6 83900610 83900610 C G SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.122 p.R41P 1.000 pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 141 0 0 85 24 22.0183 FLNC 0 genome.wustl.edu 37 7 128478750 128478750 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 128478750 128478750 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.1304 p.T435M 0.985 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 253 0 0 129 9 6.52174 TRIM24 0 genome.wustl.edu 37 7 138265374 138265374 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 138265374 138265374 C T SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.2653 p.P885S 0.838 superfamily_Bromodomain pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 164 0 0 112 37 24.8322 MKRN1 0 genome.wustl.edu 37 7 140171773 140171773 + Missense_Mutation SNP C C G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 140171773 140171773 C G SNP MKRN1 ENST00000255977 human ensembl 74_37 -1 known missense c.224 p.C75S 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN1 HGNC ENSG00000133606 127 0 0 68 16 19.0476 CNTNAP2 0 genome.wustl.edu 37 7 146471365 146471365 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 146471365 146471365 A G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.100 p.K34E 1.000 smart_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 40 0 0 18 4 18.1818 HDAC9 0 genome.wustl.edu 37 7 18631206 18631206 + Missense_Mutation SNP A A C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 18631206 18631206 A C SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.483 p.K161N 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 50 0 0 30 11 26.8293 HDAC9 0 genome.wustl.edu 37 7 18674294 18674294 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 18674294 18674294 C A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.841 p.P281T 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 11 0 0 7 3 30 BMPER 0 genome.wustl.edu 37 7 34118719 34118719 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 34118719 34118719 G C SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.1329 p.S443 0.663 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 171 1 0.581395 71 24 25.2632 NPC1L1 0 genome.wustl.edu 37 7 44555510 44555510 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 44555510 44555510 C T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.3769 p.A1257T 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 62 0 0 32 3 8.57143 WBSCR17 0 genome.wustl.edu 37 7 71036364 71036364 + Missense_Mutation SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 71036364 71036364 G C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1057 p.E353Q 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 170 0 0 85 22 20.5607 MAGI2 0 genome.wustl.edu 37 7 77797390 77797390 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 77797390 77797390 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.2439 p.A813 0.045 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 120 0 0 88 27 23.4783 SEMA3E 0 genome.wustl.edu 37 7 82997332 82997332 + Missense_Mutation SNP A A G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 82997332 82997332 A G SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.1898 p.V633A 0.969 pfam_Immunoglobulin,pfam_Ig_V-set,pfscan_Ig-like_dom 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 106 0 0 78 16 17.0213 CYP51A1 0 genome.wustl.edu 37 7 91743061 91743061 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 7 91743061 91743061 C A SNP CYP51A1 ENST00000003100 human ensembl 74_37 -1 known missense c.1448 p.G483V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 142 0 0 78 21 21.2121 CSMD3 0 genome.wustl.edu 37 8 113318256 113318256 + Missense_Mutation SNP T T A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 113318256 113318256 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8051 p.N2684I 1.000 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 CSMD3 HGNC ENSG00000164796 185 0 0 135 37 21.5116 CSMD3 0 genome.wustl.edu 37 8 113348959 113348959 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 113348959 113348959 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6941 p.R2314I 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 CSMD3 HGNC ENSG00000164796 156 0 0 115 22 16.0584 POU5F1B 0 genome.wustl.edu 37 8 128428897 128428897 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 128428897 128428897 C T SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known silent c.786 p.I262 0.989 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 POU5F1B HGNC ENSG00000212993 18 0 0 12 3 20 ENSG00000204791 0 genome.wustl.edu 37 8 145106219 145106219 + RNA SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 145106219 145106219 C T SNP ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 77 0 0 31 5 13.8889 CYHR1 0 genome.wustl.edu 37 8 145689777 145689777 + Silent SNP G G C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 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 201 0 0 65 25 27.7778 ESCO2 0 genome.wustl.edu 37 8 27634042 27634042 + Nonsense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 27634042 27634042 C T SNP ESCO2 ENST00000305188 human ensembl 74_37 +1 known nonsense c.217 p.Q73* 0.534 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 62 0 0 45 9 16.6667 ADAM9 0 genome.wustl.edu 37 8 38874807 38874807 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 38874807 38874807 C T SNP ADAM9 ENST00000487273 human ensembl 74_37 +1 known silent c.480 p.H160 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 84 0 0 64 13 16.8831 KAT6A 0 genome.wustl.edu 37 8 41798853 41798853 + Missense_Mutation SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 41798853 41798853 T C SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2546 p.Q849R 0.908 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 95 0 0 62 14 18.4211 KCNB2 0 genome.wustl.edu 37 8 73849089 73849089 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 73849089 73849089 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1499 p.S500L 0.991 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 196 0 0 121 23 15.9722 STAU2 0 genome.wustl.edu 37 8 74526145 74526145 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 74526145 74526145 C A SNP STAU2 ENST00000524300 human ensembl 74_37 -1 known missense c.725 p.R242L 0.844 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 51 0 0 29 10 25.641 SGK223 0 genome.wustl.edu 37 8 8185863 8185863 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 8185863 8185863 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.2429 p.P810L 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 154 0 0 73 14 16.092 ZNF79 0 genome.wustl.edu 37 9 130206660 130206660 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 130206660 130206660 G A SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known silent c.681 p.G227 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 ZNF79 HGNC ENSG00000196152 164 1 0.606061 85 20 19.0476 PRRC2B 0 genome.wustl.edu 37 9 134321941 134321941 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 134321941 134321941 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.767 p.R256H 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 62 0 0 32 7 17.9487 IFNA10 0 genome.wustl.edu 37 9 21206570 21206570 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 21206570 21206570 G A SNP IFNA10 ENST00000357374 human ensembl 74_37 -1 known missense c.527 p.S176L 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC ENSG00000186803 480 0 0 356 25 6.56168 IFNA6 0 genome.wustl.edu 37 9 21350353 21350353 + Silent SNP T T C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 21350353 21350353 T C SNP IFNA6 ENST00000380210 human ensembl 74_37 -1 known silent c.534 p.S178 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA6 HGNC ENSG00000120235 384 0 0 261 67 20.4268 CNTNAP3 0 genome.wustl.edu 37 9 39175978 39175978 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 39175978 39175978 C A SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.1039 p.A347S 1.000 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 CNTNAP3 HGNC ENSG00000106714 65 0 0 57 8 12.3077 JAK2 0 genome.wustl.edu 37 9 5069141 5069141 + Silent SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 5069141 5069141 G A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known silent c.1446 p.Q482 0.998 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_SH2 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 72 0 0 53 12 18.4615 SPATA31D5P 0 genome.wustl.edu 37 9 84531747 84531747 + RNA SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 84531747 84531747 C A SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 66 0 0 58 6 9.375 HNRNPK 0 genome.wustl.edu 37 9 86585140 86585140 + Missense_Mutation SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 86585140 86585140 C T SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known missense c.1298 p.R433Q 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 103 0 0 72 18 20 CT47B1 0 genome.wustl.edu 37 X 120008811 120008811 + Silent SNP C C T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 X 120008811 120008811 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known silent c.714 p.E238 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 232 0 0 62 45 42.0561 CD40LG 0 genome.wustl.edu 37 X 135741443 135741443 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 X 135741443 135741443 G A SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known missense c.655 p.G219R 0.003 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 230 0 0 170 10 5.55556 WNK3 0 genome.wustl.edu 37 X 54263436 54263436 + Missense_Mutation SNP G G T TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 X 54263436 54263436 G T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.4563 p.S1521R 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 175 0 0 87 55 38.7324 ZXDA 0 genome.wustl.edu 37 X 57934628 57934628 + Missense_Mutation SNP T T G TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 X 57934628 57934628 T G SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known missense c.2227 p.S743R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 47 0 0 32 22 40.7407 ZXDA 0 genome.wustl.edu 37 X 57935041 57935041 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 X 57935041 57935041 G A SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known missense c.1814 p.S605F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 37 0 0 16 8 33.3333 CYLC1 0 genome.wustl.edu 37 X 83129025 83129025 + Missense_Mutation SNP G G A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 X 83129025 83129025 G A SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1309 p.V437I 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 12 0 0 10 6 37.5 KLHL4 0 genome.wustl.edu 37 X 86880644 86880644 + Missense_Mutation SNP C C A TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 X 86880644 86880644 C A SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1172 p.T391N 0.975 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 50 0 0 16 20 55.5556 TPCN2 0 genome.wustl.edu 37 11 68822739 68822751 + Frame_Shift_Del DEL TCCCTGGGAGCCG TCCCTGGGAGCCG - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 TCCCTGGGAGCCG TCCCTGGGAGCCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 11 68822739 68822751 TCCCTGGGAGCCG - DEL TPCN2 ENST00000294309 human ensembl 74_37 +1 known frame_shift_del c.348_360 p.W118fs 0.002:0.681:0.993:0.999:1.000:1.000:1.000:0.988:1.000:0.996:1.000:0.997:0.263 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 129 0 0 93 16 14.6789 SMG1 0 genome.wustl.edu 37 16 18937310 18937312 + In_Frame_Del DEL GCC GCC - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 16 18937310 18937312 GCC - DEL SMG1 ENST00000389467 human ensembl 74_37 -1 known in_frame_del c.54_52 p.G18in_frame_del 1.000:1.000:1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 17 0 0 10 3 23.0769 PAFAH1B1 0 genome.wustl.edu 37 17 2570628 2570628 + RNA DEL A A - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 17 2570628 2570628 A - DEL PAFAH1B1 ENST00000397193 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 8 0 0 6 3 33.3333 AGPS 0 genome.wustl.edu 37 2 178362447 178362447 + Frame_Shift_Del DEL T T - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 2 178362447 178362447 T - DEL AGPS ENST00000264167 human ensembl 74_37 +1 known frame_shift_del c.1316 p.F440fs 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 41 0 0 39 6 13.3333 FRG1B 0 genome.wustl.edu 37 20 29614296 29614297 + RNA INS - - AGA TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 20 29614296 29614297 - AGA INS FRG1B ENST00000482423 human ensembl 74_37 +1 known rna NULL NULL 0.998:0.997 - - - no_errors FRG1B HGNC ENSG00000149531 64 0 0 47 3 6 TRA2B 0 genome.wustl.edu 37 3 185641779 185641779 + RNA DEL A A - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 185641779 185641779 A - DEL TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 66 0 0 46 7 13.2075 ROBO2 0 genome.wustl.edu 37 3 77617561 77617570 + Frame_Shift_Del DEL CACCACGGTT CACCACGGTT - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 CACCACGGTT CACCACGGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 3 77617561 77617570 CACCACGGTT - DEL ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_del c.1947_1956 p.T650fs 0.991:1.000:1.000:0.994:1.000:1.000:0.972:0.998:0.998:0.958 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 ROBO2 HGNC ENSG00000185008 124 0 0 80 8 9.09091 CCDC158 0 genome.wustl.edu 37 4 77253601 77253605 + Frame_Shift_Del DEL ATCTC ATCTC - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 ATCTC ATCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 4 77253601 77253605 ATCTC - DEL CCDC158 ENST00000388914 human ensembl 74_37 -1 known frame_shift_del c.2854_2850 p.S952fs 0.081:0.190:0.921:0.941:0.941 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 101 0 0 72 10 12.1951 PCMTD1 0 genome.wustl.edu 37 8 52732893 52732894 + RNA INS - - C TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 8 52732893 52732894 - C INS PCMTD1 ENST00000519559 human ensembl 74_37 -1 known rna NULL NULL 0.206:0.021 - - - no_errors PCMTD1 HGNC ENSG00000168300 21 0 0 29 2 6.45161 SEC16A 0 genome.wustl.edu 37 9 139369377 139369409 + In_Frame_Del DEL AGACAAGCTAAGGACAGAGCTGGTTGGAATCCC AGACAAGCTAAGGACAGAGCTGGTTGGAATCCC - TCGA-D7-8572-01A-11D-2340-08 TCGA-D7-8572-10A-01D-2341-08 AGACAAGCTAAGGACAGAGCTGGTTGGAATCCC AGACAAGCTAAGGACAGAGCTGGTTGGAATCCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 584e46d6-280d-4aaa-b03e-5fd7ece08d77 a0e40acf-0a3e-4b8d-b504-22a3001b1191 9 139369377 139369409 AGACAAGCTAAGGACAGAGCTGGTTGGAATCCC - DEL SEC16A ENST00000313050 human ensembl 74_37 -1 known in_frame_del c.2691_2659 p.GIPTSSVLSLS887in_frame_del 0.001:0.006:0.003:0.000:0.000:0.000:0.013:0.016:0.007:0.000:0.000:0.000:0.000:0.000:0.002:0.003:0.023:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.012:0.023:0.020 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 35 0 0 45 4 8.16327