Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF UBE4B 0 genome.wustl.edu 37 1 10239484 10239484 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 10239484 10239484 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.3711 p.M1237I 1.000 pfam_Ubox_domain,smart_Ubox_domain pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 147 0 0 49 31 38.75 COL11A1 0 genome.wustl.edu 37 1 103427470 103427470 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 103427470 103427470 T C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.3156 p.A1052 0.954 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 36 0 0 6 3 33.3333 VPS13D 0 genome.wustl.edu 37 1 12337490 12337490 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 12337490 12337490 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.3845 p.C1282Y 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 264 0 0 92 78 45.8824 SV2A 0 genome.wustl.edu 37 1 149883495 149883495 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 149883495 149883495 G T SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.660 p.F220L 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 60 0 0 19 12 38.7097 MTMR11 0 genome.wustl.edu 37 1 149903446 149903446 + RNA SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 149903446 149903446 T C SNP MTMR11 ENST00000495054 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors MTMR11 HGNC ENSG00000014914 16 0 0 1 5 83.3333 LCE1B 0 genome.wustl.edu 37 1 152785212 152785212 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 152785212 152785212 G A SNP LCE1B ENST00000360090 human ensembl 74_37 +1 known missense c.290 p.S97N 0.282 NULL NULL - no_errors LCE1B HGNC ENSG00000196734 111 0 0 25 34 57.6271 TDRD10 0 genome.wustl.edu 37 1 154514512 154514512 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 154514512 154514512 G A SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known missense c.382 p.A128T 0.000 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 46 0 0 14 13 48.1481 FCGR2B 0 genome.wustl.edu 37 1 161642904 161642904 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 161642904 161642904 G A SNP FCGR2B ENST00000358671 human ensembl 74_37 +1 known silent c.531 p.S177 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2B HGNC ENSG00000072694 62 0 0 29 11 27.5 SPEN 0 genome.wustl.edu 37 1 16254749 16254749 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 16254749 16254749 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known nonsense c.2014 p.R672* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 226 0 0 46 52 53.0612 ESPNP 0 genome.wustl.edu 37 1 17023290 17023290 + RNA SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 17023290 17023290 C A SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 98 0 0 28 5 15.1515 UBR4 0 genome.wustl.edu 37 1 19448467 19448467 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 19448467 19448467 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known nonsense c.9856 p.R3286* 0.999 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 79 0 0 28 19 40.4255 UBR4 0 genome.wustl.edu 37 1 19499975 19499975 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 19499975 19499975 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known nonsense c.3123 p.W1041* 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 46 0 0 23 11 32.3529 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 269 0 0 80 24 23.0769 LRRN2 0 genome.wustl.edu 37 1 204588977 204588977 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 204588977 204588977 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.144 p.R48 0.001 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 67 0 0 16 17 51.5152 SMYD2 0 genome.wustl.edu 37 1 214507514 214507514 + RNA SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 214507514 214507514 G T SNP SMYD2 ENST00000491455 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SMYD2 HGNC ENSG00000143499 125 0 0 27 13 32.5 PTPN14 0 genome.wustl.edu 37 1 214576291 214576291 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 214576291 214576291 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.516 p.L172 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 175 0 0 45 32 41.5584 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 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 358 1 0.278552 93 39 29.5455 SUSD4 0 genome.wustl.edu 37 1 223408301 223408301 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 223408301 223408301 A C SNP SUSD4 ENST00000344029 human ensembl 74_37 -1 known missense c.866 p.L289R 0.008 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 190 0 0 41 20 32.7869 LBR 0 genome.wustl.edu 37 1 225599126 225599126 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 225599126 225599126 A G SNP LBR ENST00000272163 human ensembl 74_37 -1 known silent c.1101 p.D367 0.996 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 162 0 0 32 28 46.6667 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 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 192 1 0.518135 34 26 43.3333 OBSCN 0 genome.wustl.edu 37 1 228437876 228437876 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 228437876 228437876 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.4244 p.A1415V 0.048 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 221 0 0 43 41 48.8095 C1orf101 0 genome.wustl.edu 37 1 244662322 244662322 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 244662322 244662322 T C SNP C1orf101 ENST00000366534 human ensembl 74_37 +1 novel missense c.370 p.Y124H 0.958 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 61 0 0 19 11 36.6667 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 17 0 0 9 6 40 KIAA0754 0 genome.wustl.edu 37 1 39879387 39879387 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 39879387 39879387 G A SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known silent c.3042 p.V1014 0.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 67 0 0 14 13 48.1481 CYP4A22 0 genome.wustl.edu 37 1 47603140 47603140 + RNA SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 47603140 47603140 T C SNP CYP4A22 ENST00000485117 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CYP4A22 HGNC ENSG00000162365 146 0 0 40 19 32.2034 BSND 0 genome.wustl.edu 37 1 55464928 55464928 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 55464928 55464928 G A SNP BSND ENST00000371265 human ensembl 74_37 +1 known silent c.69 p.T23 0.582 NULL NULL - no_errors BSND HGNC ENSG00000162399 135 0 0 36 28 43.75 DAB1 0 genome.wustl.edu 37 1 57499085 57499085 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 57499085 57499085 A G SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.796 p.F266L 0.996 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 177 0 0 53 23 30.2632 SGIP1 0 genome.wustl.edu 37 1 67145427 67145427 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 67145427 67145427 T C SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.818 p.I273T 0.927 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 131 0 0 35 26 42.623 RABGGTB 0 genome.wustl.edu 37 1 76255607 76255607 + RNA SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 76255607 76255607 A C SNP RABGGTB ENST00000461653 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RABGGTB HGNC ENSG00000137955 76 0 0 28 27 49.0909 GBP6 0 genome.wustl.edu 37 1 89848368 89848368 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 89848368 89848368 A C SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known missense c.1298 p.K433T 0.001 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 103 0 0 38 31 44.9275 HFM1 0 genome.wustl.edu 37 1 91817190 91817190 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 91817190 91817190 G C SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.1988 p.T663R 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 117 0 0 34 28 45.1613 GBF1 0 genome.wustl.edu 37 10 104140096 104140096 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 104140096 104140096 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.4966 p.H1656Y 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 202 0 0 67 40 37.3832 KIAA1217 0 genome.wustl.edu 37 10 24832186 24832186 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 24832186 24832186 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.3987 p.S1329 0.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 210 0 0 48 43 47.2527 GAD2 0 genome.wustl.edu 37 10 26506781 26506781 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 26506781 26506781 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known silent c.147 p.Y49 0.184 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 25 0 0 13 7 35 LRRC37A6P 0 genome.wustl.edu 37 10 27538372 27538372 + RNA SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 27538372 27538372 A G SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC37A6P HGNC ENSG00000230445 287 0 0 116 53 31.3609 LRRC37A6P 0 genome.wustl.edu 37 10 27538373 27538373 + RNA SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 27538373 27538373 T A SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors LRRC37A6P HGNC ENSG00000230445 287 0 0 117 55 31.9767 CXCL12 0 genome.wustl.edu 37 10 44873202 44873202 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 44873202 44873202 C T SNP CXCL12 ENST00000395794 human ensembl 74_37 -1 putative missense c.418 p.V140M 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CXCL12 HGNC ENSG00000107562 53 0 0 9 4 30.7692 AKR1C1 0 genome.wustl.edu 37 10 5008166 5008166 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 5008166 5008166 A G SNP AKR1C1 ENST00000380872 human ensembl 74_37 +1 known missense c.145 p.I49V 0.688 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 143 0 0 55 31 36.0465 OGDHL 0 genome.wustl.edu 37 10 50950980 50950980 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 50950980 50950980 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1906 p.R636W 0.306 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 77 0 0 19 13 40.625 PCDH15 0 genome.wustl.edu 37 10 55571328 55571328 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 55571328 55571328 A C SNP PCDH15 ENST00000409834 human ensembl 74_37 -1 putative missense c.3258 p.I1086M 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 34 0 0 8 6 42.8571 CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 69 0 0 20 12 37.5 ZSWIM8 0 genome.wustl.edu 37 10 75557209 75557209 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 75557209 75557209 C T SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known nonsense c.3508 p.R1170* 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 139 0 0 42 23 35.3846 SAMD8 0 genome.wustl.edu 37 10 76928353 76928353 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 76928353 76928353 C T SNP SAMD8 ENST00000372690 human ensembl 74_37 +1 known silent c.918 p.R306 1.000 NULL pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 234 0 0 57 34 37.3626 VDAC2 0 genome.wustl.edu 37 10 76970891 76970891 + Splice_Site SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 76970891 76970891 G T SNP VDAC2 ENST00000313132 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.994 - - - no_errors VDAC2 HGNC ENSG00000165637 24 0 0 3 3 50 PTEN 0 genome.wustl.edu 37 10 89624242 89624242 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 89624242 89624242 A G SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.16 p.K6E 1.000 pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 189 0 0 65 49 42.9825 PTEN 0 genome.wustl.edu 37 10 89624286 89624286 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 89624286 89624286 A G SNP PTEN ENST00000371953 human ensembl 74_37 +1 known silent c.60 p.G20 0.982 pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 160 0 0 61 34 35.7895 PTEN 0 genome.wustl.edu 37 10 89624297 89624297 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 89624297 89624297 A T SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.71 p.D24V 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 144 0 0 53 29 35.3659 KBTBD3 0 genome.wustl.edu 37 11 105924893 105924893 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 105924893 105924893 G C SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known missense c.523 p.H175D 0.396 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 32 0 0 19 12 38.7097 MICAL2 0 genome.wustl.edu 37 11 12231128 12231128 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 12231128 12231128 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.674 p.R225H 1.000 prints_Rng_hydrolase-like pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 150 0 0 33 27 45 MICAL2 0 genome.wustl.edu 37 11 12244261 12244261 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 12244261 12244261 C G SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.1420 p.L474V 1.000 superfamily_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 69 0 0 14 10 41.6667 MUC5B 0 genome.wustl.edu 37 11 1275470 1275470 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 1275470 1275470 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.15375 p.T5125 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 107 0 0 12 15 55.5556 PIK3C2A 0 genome.wustl.edu 37 11 17156677 17156677 + Silent SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 17156677 17156677 A T SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.1878 p.T626 0.015 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 365 0 0 78 46 37.0968 BBOX1 0 genome.wustl.edu 37 11 27114876 27114876 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 27114876 27114876 G T SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known missense c.496 p.G166W 1.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 137 1 0.724638 38 20 34.4828 LGR4 0 genome.wustl.edu 37 11 27434338 27434338 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 27434338 27434338 C G SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.255 p.E85D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 108 0 0 48 25 34.2466 MADD 0 genome.wustl.edu 37 11 47303141 47303141 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 47303141 47303141 A T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.1306 p.S436C 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 129 0 0 25 13 34.2105 SLC22A8 0 genome.wustl.edu 37 11 62762176 62762176 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 62762176 62762176 C T SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.1054 p.G352R 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 74 0 0 23 20 46.5116 CDC42BPG 0 genome.wustl.edu 37 11 64603908 64603908 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 64603908 64603908 T C SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.1479 p.R493 0.046 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 235 0 0 36 15 29.4118 OR2D3 0 genome.wustl.edu 37 11 6942645 6942645 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 6942645 6942645 G A SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.413 p.R138Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 217 2 0.913242 70 49 41.1765 TENM4 0 genome.wustl.edu 37 11 78413244 78413244 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 78413244 78413244 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.4414 p.A1472T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 58 0 0 19 15 44.1176 ST5 0 genome.wustl.edu 37 11 8728732 8728732 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 8728732 8728732 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.2471 p.A824V 0.998 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 94 0 0 23 19 45.2381 FAT3 0 genome.wustl.edu 37 11 92086032 92086032 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 92086032 92086032 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.754 p.L252I 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 267 0 0 63 48 43.2432 FAT3 0 genome.wustl.edu 37 11 92088462 92088462 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 11 92088462 92088462 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.3184 p.V1062M 1.000 pfam_Cadherin,superfamily_Cadherin-like,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 95 0 0 28 21 42.8571 TRPV4 0 genome.wustl.edu 37 12 110221548 110221548 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 110221548 110221548 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known silent c.2494 p.L832 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 94 0 0 31 10 24.3902 CUX2 0 genome.wustl.edu 37 12 111745053 111745053 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 111745053 111745053 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.1101 p.T367 0.740 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 91 0 0 13 12 48 DTX1 0 genome.wustl.edu 37 12 113496170 113496170 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 113496170 113496170 G C SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.173 p.G58A 0.983 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 212 0 0 46 24 34.2857 DTX1 0 genome.wustl.edu 37 12 113496241 113496241 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 113496241 113496241 T C SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.244 p.F82L 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 203 0 0 48 22 31.4286 TBX5 0 genome.wustl.edu 37 12 114832618 114832618 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 114832618 114832618 T G SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.591 p.K197N 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 402 0 0 172 59 25.5411 CCDC64 0 genome.wustl.edu 37 12 120530908 120530908 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 120530908 120530908 G A SNP CCDC64 ENST00000257583 human ensembl 74_37 +1 known silent c.756 p.G252 0.908 NULL NULL - no_errors CCDC64 HGNC ENSG00000135127 53 0 0 31 9 22.5 PLA2G1B 0 genome.wustl.edu 37 12 120763699 120763699 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 120763699 120763699 C A SNP PLA2G1B ENST00000308366 human ensembl 74_37 -1 known missense c.159 p.L53F 0.998 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G1B HGNC ENSG00000170890 300 1 0.332226 142 29 16.9591 FZD10 0 genome.wustl.edu 37 12 130648561 130648561 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 130648561 130648561 C A SNP FZD10 ENST00000539839 human ensembl 74_37 +1 known missense c.976 p.L326M 1.000 NULL NULL - no_errors FZD10 HGNC ENSG00000111432 88 0 0 51 17 25 RIMBP2 0 genome.wustl.edu 37 12 130923044 130923044 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 130923044 130923044 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known nonsense c.1471 p.Q491* 0.997 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 28 0 0 5 4 44.4444 EP400 0 genome.wustl.edu 37 12 132547138 132547138 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 132547138 132547138 A G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8334 p.Q2778 0.021 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 112 0 0 61 5 7.57576 SYT10 0 genome.wustl.edu 37 12 33538177 33538177 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 33538177 33538177 G A SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.1127 p.T376M 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 59 0 0 48 24 33.3333 KIF21A 0 genome.wustl.edu 37 12 39726475 39726475 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 39726475 39726475 A C SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.2774 p.L925R 0.984 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 140 0 0 40 31 43.662 SENP1 0 genome.wustl.edu 37 12 48441861 48441861 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 48441861 48441861 A G SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known silent c.1614 p.V538 0.996 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 84 0 0 10 7 41.1765 FAIM2 0 genome.wustl.edu 37 12 50291374 50291374 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 50291374 50291374 T C SNP FAIM2 ENST00000550195 human ensembl 74_37 -1 known missense c.326 p.H109R 0.000 NULL NULL - no_errors FAIM2 HGNC ENSG00000135472 88 0 0 17 11 39.2857 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 130 0 0 20 29 59.1837 KRT1 0 genome.wustl.edu 37 12 53070145 53070145 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 53070145 53070145 G A SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known silent c.1389 p.R463 0.184 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 102 0 0 36 3 7.69231 NTF3 0 genome.wustl.edu 37 12 5603608 5603608 + Silent SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 5603608 5603608 G C SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known silent c.267 p.G89 0.175 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 137 1 0.724638 59 25 29.7619 ATP5B 0 genome.wustl.edu 37 12 57037231 57037231 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 57037231 57037231 T A SNP ATP5B ENST00000262030 human ensembl 74_37 -1 known missense c.748 p.M250L 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu - no_errors ATP5B HGNC ENSG00000110955 219 0 0 59 44 42.7184 GRIP1 0 genome.wustl.edu 37 12 66788079 66788079 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 66788079 66788079 C T SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.2038 p.G680R 0.998 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 133 0 0 91 30 24.7934 PTPRB 0 genome.wustl.edu 37 12 70960283 70960283 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 70960283 70960283 T A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.3836 p.Y1279F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 69 0 0 33 16 32.6531 LRRIQ1 0 genome.wustl.edu 37 12 85441135 85441135 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 85441135 85441135 C T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.565 p.L189F 0.955 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 117 0 0 43 52 54.7368 FGD6 0 genome.wustl.edu 37 12 95610999 95610999 + Splice_Site SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 12 95610999 95610999 A T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known splice_site c.16+2 e1+2 1.000 - - - no_errors FGD6 HGNC ENSG00000180263 53 0 0 9 8 47.0588 FAM155A 0 genome.wustl.edu 37 13 108518853 108518853 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 108518853 108518853 T C SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.92 p.D31G 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 423 0 0 115 53 31.5476 FRY 0 genome.wustl.edu 37 13 32868606 32868606 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 32868606 32868606 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.8682 p.S2894 0.047 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 102 0 0 30 21 41.1765 SMAD9 0 genome.wustl.edu 37 13 37439852 37439852 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 37439852 37439852 C T SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known silent c.825 p.S275 0.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 72 0 0 27 14 34.1463 CAB39L 0 genome.wustl.edu 37 13 49906110 49906110 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 49906110 49906110 G A SNP CAB39L ENST00000347776 human ensembl 74_37 -1 known silent c.807 p.I269 0.990 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 280 0 0 68 51 42.8571 SPRYD7 0 genome.wustl.edu 37 13 50495695 50495695 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 50495695 50495695 C T SNP SPRYD7 ENST00000361840 human ensembl 74_37 -1 known missense c.412 p.E138K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD7 HGNC ENSG00000123178 88 0 0 24 23 48.9362 LOC101930578 0 genome.wustl.edu 37 13 52854009 52854009 + RNA SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 52854009 52854009 C A SNP LOC101930578 ENST00000451298 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-248G5.8 Clone_based_vega_gene ENSG00000217576 39 0 0 12 8 40 PCDH20 0 genome.wustl.edu 37 13 61985915 61985915 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 61985915 61985915 C T SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2317 p.D773N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 104 0 0 53 24 31.1688 LOC101927016 0 genome.wustl.edu 37 13 64321303 64321303 + Silent SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 64321303 64321303 A C SNP LOC101927016 ENST00000453638 human ensembl 74_37 +1 known silent c.370 p.R124 0.365 NULL NULL - no_errors AL445989.1 Clone_based_ensembl_gene ENSG00000226974 114 0 0 19 15 44.1176 KLF12 0 genome.wustl.edu 37 13 74420392 74420392 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 74420392 74420392 G A SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known missense c.242 p.P81L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 145 0 0 59 25 29.7619 SLITRK1 0 genome.wustl.edu 37 13 84454002 84454002 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 84454002 84454002 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.1641 p.L547 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 75 0 0 40 5 11.1111 SLITRK5 0 genome.wustl.edu 37 13 88329436 88329436 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 13 88329436 88329436 T A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1793 p.F598Y 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 333 0 0 88 59 40.1361 YY1 0 genome.wustl.edu 37 14 100728767 100728767 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 14 100728767 100728767 A G SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.806 p.D269G 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 171 0 0 36 24 40 AHNAK2 0 genome.wustl.edu 37 14 105412335 105412335 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 14 105412335 105412335 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.9453 p.P3151 0.055 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 839 0 0 208 129 38.2789 NFATC4 0 genome.wustl.edu 37 14 24845265 24845265 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 14 24845265 24845265 C T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.2203 p.R735W 0.998 pfam_IPT,superfamily_Ig_E-set,smart_IPT,prints_NFAT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 332 0 0 65 48 42.4779 PLEKHH1 0 genome.wustl.edu 37 14 68045912 68045912 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 14 68045912 68045912 G A SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.2911 p.G971R 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 42 0 0 8 3 27.2727 ZFYVE1 0 genome.wustl.edu 37 14 73459883 73459883 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 14 73459883 73459883 G A SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known missense c.1171 p.R391W 0.998 superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 109 0 0 35 18 33.9623 BCL11B 0 genome.wustl.edu 37 14 99641074 99641074 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 14 99641074 99641074 G A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.2099 p.A700V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 71 0 0 11 8 42.1053 OR4M2 0 genome.wustl.edu 37 15 22368747 22368747 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 22368747 22368747 C T SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.172 p.P58S 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 857 0 0 425 96 18.4261 OCA2 0 genome.wustl.edu 37 15 28259940 28259940 + Nonsense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 28259940 28259940 G T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known nonsense c.1026 p.Y342* 0.039 pfam_Cit_transptr-like_dom,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 48 0 0 18 6 25 TJP1 0 genome.wustl.edu 37 15 30010720 30010720 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 30010720 30010720 G A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.3626 p.S1209F 0.037 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 103 0 0 39 24 38.0952 DPH6 0 genome.wustl.edu 37 15 35814445 35814445 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 35814445 35814445 T C SNP DPH6 ENST00000440392 human ensembl 74_37 -1 known missense c.347 p.D116G 1.000 NULL pfam_DUF71_dom - no_errors DPH6 HGNC ENSG00000134146 51 0 0 23 8 25.8065 PLCB2 0 genome.wustl.edu 37 15 40590080 40590080 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 40590080 40590080 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known silent c.1236 p.D412 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 128 0 0 17 9 34.6154 MGA 0 genome.wustl.edu 37 15 42003115 42003115 + Nonsense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 42003115 42003115 T G SNP MGA ENST00000219905 human ensembl 74_37 +1 known nonsense c.2652 p.Y884* 0.969 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 204 0 0 64 42 39.6226 MAPKBP1 0 genome.wustl.edu 37 15 42111038 42111038 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 42111038 42111038 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.2192 p.R731H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 64 0 0 24 22 47.8261 SPTBN5 0 genome.wustl.edu 37 15 42180152 42180152 + Silent SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 42180152 42180152 G T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.633 p.G211 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 29 0 0 9 3 25 WDR76 0 genome.wustl.edu 37 15 44120184 44120184 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 44120184 44120184 C T SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known nonsense c.82 p.Q28* 0.391 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 63 0 0 15 12 44.4444 HMGN2P46 0 genome.wustl.edu 37 15 45814055 45814055 + RNA SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 45814055 45814055 A C SNP HMGN2P46 ENST00000568669 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HMGN2P46 HGNC ENSG00000179362 15 0 0 11 6 35.2941 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 92 0 0 32 28 46.6667 SIN3A 0 genome.wustl.edu 37 15 75703974 75703974 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 75703974 75703974 C T SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known silent c.867 p.S289 0.001 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 324 1 0.307692 86 63 42.2819 LOC645752 0 genome.wustl.edu 37 15 78211370 78211370 + RNA SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 78211370 78211370 C T SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.417 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 336 0 0 109 50 31.4465 SYT17 0 genome.wustl.edu 37 16 19278368 19278368 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 19278368 19278368 C T SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known silent c.1395 p.R465 0.671 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 41 0 0 11 9 45 GPR139 0 genome.wustl.edu 37 16 20043163 20043163 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 20043163 20043163 A T SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.956 p.F319Y 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 291 0 0 53 32 37.6471 TRAF7 0 genome.wustl.edu 37 16 2223541 2223541 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 2223541 2223541 G A SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known missense c.1072 p.A358T 0.992 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 92 0 0 17 16 48.4848 TAOK2 0 genome.wustl.edu 37 16 29998920 29998920 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 29998920 29998920 G A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known silent c.3327 p.R1109 0.995 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 200 0 0 66 4 5.71429 CORO1A 0 genome.wustl.edu 37 16 30199729 30199729 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 30199729 30199729 C A SNP CORO1A ENST00000219150 human ensembl 74_37 +1 known missense c.1113 p.D371E 0.194 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 283 0 0 51 34 40 MT1M 0 genome.wustl.edu 37 16 56667308 56667308 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 56667308 56667308 T A SNP MT1M ENST00000379818 human ensembl 74_37 +1 known missense c.85 p.C29S 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1M HGNC ENSG00000205364 190 0 0 44 34 43.5897 SLC38A7 0 genome.wustl.edu 37 16 58706104 58706104 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 58706104 58706104 G A SNP SLC38A7 ENST00000219320 human ensembl 74_37 -1 known silent c.927 p.D309 0.797 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 20 0 0 3 2 40 CA5A 0 genome.wustl.edu 37 16 87960357 87960357 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 87960357 87960357 A G SNP CA5A ENST00000309893 human ensembl 74_37 -1 known missense c.337 p.S113P 0.974 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA5A HGNC ENSG00000174990 75 0 0 30 2 6.25 ANKRD11 0 genome.wustl.edu 37 16 89337295 89337295 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 16 89337295 89337295 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.7736 p.R2579H 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 65 0 0 17 10 37.037 ENSG00000226145 0 genome.wustl.edu 37 17 16724007 16724007 + RNA SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 16724007 16724007 G A SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 28 0 0 1 14 93.3333 TMEM97 0 genome.wustl.edu 37 17 26646362 26646362 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 26646362 26646362 G C SNP TMEM97 ENST00000226230 human ensembl 74_37 +1 known missense c.97 p.V33L 0.001 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 62 0 0 22 5 18.5185 SLC13A2 0 genome.wustl.edu 37 17 26817568 26817568 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 26817568 26817568 G A SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.475 p.A159T 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 162 0 0 67 31 31.6327 GRN 0 genome.wustl.edu 37 17 42426659 42426659 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 42426659 42426659 C T SNP GRN ENST00000053867 human ensembl 74_37 +1 known missense c.127 p.R43C 0.172 NULL pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 65 0 0 4 38 90.4762 C17orf82 0 genome.wustl.edu 37 17 59489668 59489668 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 59489668 59489668 G A SNP C17orf82 ENST00000335108 human ensembl 74_37 +1 known missense c.332 p.G111D 0.000 NULL NULL - no_errors C17orf82 HGNC ENSG00000187013 39 0 0 6 14 70 GNA13 0 genome.wustl.edu 37 17 63052588 63052588 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 63052588 63052588 T C SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known missense c.124 p.K42E 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 344 0 0 28 100 78.125 GNA13 0 genome.wustl.edu 37 17 63052626 63052626 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 63052626 63052626 C T SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known missense c.86 p.R29H 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 311 0 0 29 103 78.0303 GRB2 0 genome.wustl.edu 37 17 73389691 73389691 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 73389691 73389691 A C SNP GRB2 ENST00000316804 human ensembl 74_37 -1 known missense c.19 p.Y7D 1.000 pfam_SH3_domain,pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,pfam_SH3-like_bac-type,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain,prints_p67phox - no_errors GRB2 HGNC ENSG00000177885 320 0 0 20 108 84.375 TNFSF12-TNFSF13 0 genome.wustl.edu 37 17 7463198 7463198 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 7463198 7463198 G A SNP TNFSF12-TNFSF13 ENST00000293826 human ensembl 74_37 +1 known missense c.613 p.A205T 0.604 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF12-TNFSF13 HGNC ENSG00000248871 157 0 0 40 18 31.0345 TP53 0 genome.wustl.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 7577556 7577556 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.725 p.C242Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 145 0 0 17 16 48.4848 SLC16A3 0 genome.wustl.edu 37 17 80194605 80194605 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 80194605 80194605 G A SNP SLC16A3 ENST00000392339 human ensembl 74_37 +1 known missense c.224 p.G75D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 178 0 0 36 27 42.8571 ABHD3 0 genome.wustl.edu 37 18 19283682 19283682 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 18 19283682 19283682 C T SNP ABHD3 ENST00000289119 human ensembl 74_37 -1 known silent c.189 p.E63 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 105 0 0 31 17 35.4167 RIT2 0 genome.wustl.edu 37 18 40323568 40323568 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 18 40323568 40323568 G A SNP RIT2 ENST00000326695 human ensembl 74_37 -1 known missense c.544 p.R182C 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 139 0 0 47 30 38.961 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 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 49 0 0 4 7 63.6364 PTPRM 0 genome.wustl.edu 37 18 7926570 7926570 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 18 7926570 7926570 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.552 p.R184S 1.000 smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 80 0 0 30 16 34.7826 CDC37 0 genome.wustl.edu 37 19 10506724 10506724 + Silent SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 10506724 10506724 G C SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known silent c.258 p.A86 0.182 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 283 1 0.352113 91 29 24.1667 ZNF700 0 genome.wustl.edu 37 19 12060673 12060673 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 12060673 12060673 A T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1834 p.R612W 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 176 0 0 62 42 40.3846 NOTCH3 0 genome.wustl.edu 37 19 15299139 15299139 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 15299139 15299139 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.1399 p.E467K 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 18 0 0 14 3 17.6471 DOT1L 0 genome.wustl.edu 37 19 2191099 2191099 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 2191099 2191099 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.353 p.S118L 0.999 pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 57 0 0 24 15 38.4615 ZNF77 0 genome.wustl.edu 37 19 2934551 2934551 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 2934551 2934551 A T SNP ZNF77 ENST00000314531 human ensembl 74_37 -1 known missense c.574 p.C192S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF77 HGNC ENSG00000175691 166 0 0 56 34 37.7778 SCN1B 0 genome.wustl.edu 37 19 35524615 35524615 + Splice_Site SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 35524615 35524615 G C SNP SCN1B ENST00000595652 human ensembl 74_37 +1 novel splice_site c.208-1 e3-1 0.803 - - - no_errors SCN1B HGNC ENSG00000105711 185 0 0 68 40 37.037 KMT2B 0 genome.wustl.edu 37 19 36214856 36214856 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 36214856 36214856 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.3282 p.D1094 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 56 0 0 9 6 40 FCGBP 0 genome.wustl.edu 37 19 40421393 40421393 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 40421393 40421393 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.2528 p.A843V 0.000 smart_VWF_C,smart_Fol_N pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 20 0 0 7 7 50 CEACAM5 0 genome.wustl.edu 37 19 42222079 42222079 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 42222079 42222079 T C SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known missense c.1270 p.Y424H 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 216 0 0 66 39 37.1429 PLAUR 0 genome.wustl.edu 37 19 44169538 44169538 + Silent SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 44169538 44169538 C G SNP PLAUR ENST00000340093 human ensembl 74_37 -1 known silent c.240 p.R80 0.002 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PLAUR HGNC ENSG00000011422 167 0 0 26 29 52.7273 ZNF761 0 genome.wustl.edu 37 19 53960040 53960040 + RNA SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 53960040 53960040 G C SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF761 HGNC ENSG00000160336 69 0 0 34 24 41.3793 KIR2DL3 0 genome.wustl.edu 37 19 55250954 55250954 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 55250954 55250954 G A SNP KIR2DL3 ENST00000434419 human ensembl 74_37 +1 known silent c.36 p.G12 0.052 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 253 0 0 58 26 30.9524 NLRP2 0 genome.wustl.edu 37 19 55494276 55494276 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 55494276 55494276 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1210 p.V404M 0.099 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 NLRP2 HGNC ENSG00000022556 120 0 0 24 19 44.186 ZSCAN5C 0 genome.wustl.edu 37 19 56719884 56719884 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 56719884 56719884 C T SNP ZSCAN5C ENST00000376267 human ensembl 74_37 +1 known missense c.806 p.A269V 0.062 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 98 0 0 29 26 47.2727 CD209 0 genome.wustl.edu 37 19 7809857 7809857 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 7809857 7809857 C G SNP CD209 ENST00000315599 human ensembl 74_37 -1 known missense c.870 p.Q290H 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CD209 HGNC ENSG00000090659 172 0 0 34 20 37.037 MYO1F 0 genome.wustl.edu 37 19 8613174 8613174 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 8613174 8613174 G C SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1129 p.Q377E 0.931 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 116 0 0 32 21 39.6226 MUC16 0 genome.wustl.edu 37 19 8995977 8995977 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 19 8995977 8995977 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.41264 p.R13755Q 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 138 0 0 31 12 27.907 GREB1 0 genome.wustl.edu 37 2 11755256 11755256 + Silent SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 11755256 11755256 C G SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.3162 p.S1054 0.991 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 96 0 0 40 3 6.97674 RALB 0 genome.wustl.edu 37 2 121043489 121043489 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 121043489 121043489 A G SNP RALB ENST00000474855 human ensembl 74_37 +1 known missense c.220 p.R74G 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALB HGNC ENSG00000144118 105 0 0 25 27 51.9231 CCDC115 0 genome.wustl.edu 37 2 131099517 131099517 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 131099517 131099517 C A SNP CCDC115 ENST00000442217 human ensembl 74_37 -1 known missense c.112 p.G38C 1.000 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 82 0 0 20 8 28.5714 GPR39 0 genome.wustl.edu 37 2 133174980 133174980 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 133174980 133174980 C T SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.365 p.T122M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 80 0 0 35 19 35.1852 GTDC1 0 genome.wustl.edu 37 2 144764846 144764846 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 144764846 144764846 C T SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known missense c.778 p.G260S 0.001 NULL pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 111 0 0 34 22 39.2857 RBM43 0 genome.wustl.edu 37 2 152107671 152107671 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 152107671 152107671 G A SNP RBM43 ENST00000331426 human ensembl 74_37 -1 known missense c.823 p.H275Y 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 75 0 0 41 23 35.9375 ZAK 0 genome.wustl.edu 37 2 174047623 174047623 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 174047623 174047623 A T SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.289 p.N97Y 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 72 0 0 17 14 45.1613 ATF2 0 genome.wustl.edu 37 2 175976308 175976308 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 175976308 175976308 T C SNP ATF2 ENST00000421438 human ensembl 74_37 -1 known missense c.701 p.Q234R 1.000 NULL pfscan_Znf_C2H2 - no_errors ATF2 HGNC ENSG00000115966 119 0 0 32 19 37.2549 TTN 0 genome.wustl.edu 37 2 179407894 179407894 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 179407894 179407894 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.89102 p.E29701G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 302 0 0 161 14 8 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 127 0 0 28 46 62.1622 SESTD1 0 genome.wustl.edu 37 2 179979930 179979930 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 179979930 179979930 T C SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known silent c.1701 p.Q567 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 46 0 0 33 3 8.33333 IHH 0 genome.wustl.edu 37 2 219920533 219920533 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 219920533 219920533 C T SNP IHH ENST00000295731 human ensembl 74_37 -1 known missense c.632 p.R211H 0.994 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 75 0 0 15 12 44.4444 LOC100286922 0 genome.wustl.edu 37 2 234663732 234663732 + RNA SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 234663732 234663732 G A SNP LOC100286922 ENST00000389816 human ensembl 74_37 -1 known rna NULL NULL 0.299 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 206 0 0 45 23 33.8235 CAPN10 0 genome.wustl.edu 37 2 241530408 241530408 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 241530408 241530408 A G SNP CAPN10 ENST00000391984 human ensembl 74_37 +1 known silent c.450 p.L150 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 78 0 0 21 13 38.2353 DRC1 0 genome.wustl.edu 37 2 26678055 26678055 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 26678055 26678055 A T SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.2120 p.Q707L 1.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 259 0 0 56 39 41.0526 NRBP1 0 genome.wustl.edu 37 2 27656863 27656863 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 27656863 27656863 T G SNP NRBP1 ENST00000233557 human ensembl 74_37 +1 known missense c.341 p.V114G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NRBP1 HGNC ENSG00000115216 582 0 0 147 88 37.4468 ALK 0 genome.wustl.edu 37 2 30142909 30142909 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 30142909 30142909 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.617 p.A206V 0.439 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 79 0 0 26 14 35 PIGF 0 genome.wustl.edu 37 2 46815247 46815247 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 46815247 46815247 T C SNP PIGF ENST00000306465 human ensembl 74_37 -1 known silent c.618 p.K206 0.000 NULL pfam_GPI_biosynthesis_protein_Pig-F - no_errors PIGF HGNC ENSG00000151665 24 0 0 7 8 53.3333 BCL11A 0 genome.wustl.edu 37 2 60688687 60688687 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 60688687 60688687 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1360 p.D454N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 68 0 0 15 13 46.4286 PUS10 0 genome.wustl.edu 37 2 61188647 61188647 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 61188647 61188647 T C SNP PUS10 ENST00000316752 human ensembl 74_37 -1 known silent c.825 p.V275 0.361 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 546 0 0 233 97 29.3939 ENSG00000240040 0 genome.wustl.edu 37 2 89161035 89161035 + Splice_Site SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 89161035 89161035 A G SNP ENSG00000240040 ENST00000452230 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors AC096579.13 Clone_based_vega_gene ENSG00000240040 217 0 0 19 15 44.1176 ENSG00000231486 0 genome.wustl.edu 37 2 89161441 89161441 + RNA SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 89161441 89161441 T C SNP ENSG00000231486 ENST00000430694 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors AC096579.7 Clone_based_vega_gene ENSG00000231486 117 0 0 9 20 68.9655 TMEM127 0 genome.wustl.edu 37 2 96920726 96920726 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 96920726 96920726 A G SNP TMEM127 ENST00000258439 human ensembl 74_37 -1 known missense c.254 p.M85T 1.000 NULL NULL - no_errors TMEM127 HGNC ENSG00000135956 118 0 0 26 15 36.5854 SNRNP200 0 genome.wustl.edu 37 2 96949033 96949033 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 2 96949033 96949033 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.4821 p.S1607 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 142 0 0 49 25 33.7838 FKBP1A 0 genome.wustl.edu 37 20 1356212 1356212 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 20 1356212 1356212 G A SNP FKBP1A ENST00000381719 human ensembl 74_37 -1 known missense c.121 p.R41W 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP1A HGNC ENSG00000088832 75 0 0 19 15 44.1176 NELFCD 0 genome.wustl.edu 37 20 57569712 57569712 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 20 57569712 57569712 A C SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.1781 p.N594T 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 149 0 0 45 30 40 ZNF831 0 genome.wustl.edu 37 20 57766977 57766977 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 20 57766977 57766977 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.903 p.L301 0.152 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 105 0 0 32 24 42.8571 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 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 139 1 0.714286 41 16 28.0702 CDH4 0 genome.wustl.edu 37 20 60509180 60509180 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 20 60509180 60509180 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.2446 p.V816M 0.975 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 115 0 0 25 14 35.8974 LAMA5 0 genome.wustl.edu 37 20 60921763 60921763 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 20 60921763 60921763 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.1166 p.G389D 0.999 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 87 0 0 13 10 43.4783 PAK7 0 genome.wustl.edu 37 20 9520159 9520159 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 20 9520159 9520159 C G SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.2110 p.G704R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 300 0 0 154 15 8.87574 IGLV4-3 0 genome.wustl.edu 37 22 23214065 23214065 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 22 23214065 23214065 C T SNP IGLV4-3 ENST00000390318 human ensembl 74_37 +1 known silent c.222 p.S74 0.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGLV4-3 HGNC ENSG00000211672 371 0 0 83 37 30.8333 XBP1 0 genome.wustl.edu 37 22 29195982 29195982 + Nonsense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 22 29195982 29195982 T A SNP XBP1 ENST00000405219 human ensembl 74_37 -1 putative nonsense c.43 p.R15* 0.010 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors XBP1 HGNC ENSG00000100219 82 0 0 19 15 44.1176 LGALS1 0 genome.wustl.edu 37 22 38075624 38075624 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 22 38075624 38075624 C T SNP LGALS1 ENST00000215909 human ensembl 74_37 +1 known silent c.276 p.F92 0.803 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS1 HGNC ENSG00000100097 132 0 0 43 4 8.51064 TNFRSF13C 0 genome.wustl.edu 37 22 42321376 42321376 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 22 42321376 42321376 G A SNP TNFRSF13C ENST00000291232 human ensembl 74_37 -1 known nonsense c.550 p.Q184* 0.007 NULL pfam_TNFR_13C_TALL-1-bd,prints_TNFR_13C - no_errors TNFRSF13C HGNC ENSG00000159958 62 0 0 11 5 31.25 DENND6B 0 genome.wustl.edu 37 22 50753285 50753285 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 22 50753285 50753285 A T SNP DENND6B ENST00000413817 human ensembl 74_37 -1 known missense c.824 p.L275Q 1.000 pfam_Afi1_N,pfam_DENN_dom pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom - no_errors DENND6B HGNC ENSG00000205593 51 0 0 8 6 42.8571 TRAT1 0 genome.wustl.edu 37 3 108557836 108557836 + RNA SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 108557836 108557836 G A SNP TRAT1 ENST00000478830 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors TRAT1 HGNC ENSG00000163519 68 0 0 27 16 37.2093 IFT122 0 genome.wustl.edu 37 3 129231237 129231237 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 129231237 129231237 C T SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.3122 p.P1041L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 267 0 0 129 9 6.52174 NUDT16P1 0 genome.wustl.edu 37 3 131082272 131082272 + RNA SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 131082272 131082272 T C SNP NUDT16P1 ENST00000499077 human ensembl 74_37 +1 known rna NULL NULL 0.961 - - - no_errors NUDT16P Clone_based_vega_gene ENSG00000246082 40 0 0 7 4 36.3636 SIAH2 0 genome.wustl.edu 37 3 150480426 150480426 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 150480426 150480426 G C SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.211 p.H71D 1.000 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 38 0 0 10 6 37.5 SIAH2 0 genome.wustl.edu 37 3 150480427 150480427 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 150480427 150480427 C A SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.210 p.Q70H 1.000 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 38 0 0 10 6 37.5 PIGZ 0 genome.wustl.edu 37 3 196674283 196674283 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 196674283 196674283 C T SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known silent c.1485 p.L495 0.997 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 169 0 0 34 31 47.6923 TGFBR2 0 genome.wustl.edu 37 3 30713931 30713931 + Splice_Site SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 30713931 30713931 T G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known splice_site c.1329+2 e5+2 1.000 - - - no_errors TGFBR2 HGNC ENSG00000163513 257 0 0 64 45 41.2844 CNTN4 0 genome.wustl.edu 37 3 3095653 3095653 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 3095653 3095653 A G SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2974 p.I992V 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 83 0 0 33 11 25 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 171 1 0.581395 19 19 50 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 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 289 0 0 31 19 38 NFKB1 0 genome.wustl.edu 37 4 103517342 103517342 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 103517342 103517342 A C SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known missense c.1348 p.S450R 0.010 NULL pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 128 0 0 36 22 37.931 EGF 0 genome.wustl.edu 37 4 110915908 110915908 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 110915908 110915908 C T SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.2877 p.H959 0.000 pirsf_Pro-epidermal_GF pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 147 0 0 45 35 43.75 ALPK1 0 genome.wustl.edu 37 4 113360967 113360967 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 113360967 113360967 G T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.3477 p.L1159F 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 76 0 0 24 13 35.1351 ANK2 0 genome.wustl.edu 37 4 114195727 114195727 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 114195727 114195727 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.1605 p.H535 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_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 ANK2 HGNC ENSG00000145362 103 0 0 65 34 34.3434 ANKRD50 0 genome.wustl.edu 37 4 125592169 125592169 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 125592169 125592169 C A SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.2263 p.A755S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 115 0 0 49 33 40.2439 FAT4 0 genome.wustl.edu 37 4 126241663 126241663 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 126241663 126241663 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.4097 p.S1366N 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 241 0 0 82 70 46.0526 FAT4 0 genome.wustl.edu 37 4 126412365 126412365 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 126412365 126412365 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.14388 p.N4796 1.000 NULL 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 97 0 0 48 28 36.8421 PCDH10 0 genome.wustl.edu 37 4 134072395 134072395 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 134072395 134072395 T C SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1100 p.V367A 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 152 0 0 53 41 43.617 PCDH10 0 genome.wustl.edu 37 4 134073610 134073610 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 134073610 134073610 G C SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2315 p.G772A 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 58 0 0 21 10 32.2581 POU4F2 0 genome.wustl.edu 37 4 147561803 147561803 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 147561803 147561803 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.1073 p.R358H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 230 0 0 53 44 45.3608 WDR17 0 genome.wustl.edu 37 4 177081171 177081171 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 177081171 177081171 A G SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.2624 p.D875G 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 74 0 0 31 17 35.4167 WDR17 0 genome.wustl.edu 37 4 177081215 177081215 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 177081215 177081215 A C SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.2668 p.K890Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 99 0 0 32 25 43.8596 TENM3 0 genome.wustl.edu 37 4 183672997 183672997 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 183672997 183672997 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3674 p.T1225M 0.992 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 203 0 0 45 31 40.7895 PDS5A 0 genome.wustl.edu 37 4 39904078 39904078 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 39904078 39904078 A T SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.1388 p.L463Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 68 0 0 17 12 41.3793 LPHN3 0 genome.wustl.edu 37 4 62775347 62775347 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 62775347 62775347 G T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1957 p.A653S 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 45 0 0 9 6 40 FRAS1 0 genome.wustl.edu 37 4 79402981 79402981 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 79402981 79402981 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.8467 p.R2823C 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 352 0 0 131 72 35.468 DSPP 0 genome.wustl.edu 37 4 88534064 88534064 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 88534064 88534064 C T SNP DSPP ENST00000282478 human ensembl 74_37 +1 known silent c.726 p.S242 0.135 NULL NULL - no_errors DSPP HGNC ENSG00000152591 82 0 0 31 20 39.2157 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 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 218 0 0 60 35 36.8421 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 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 217 0 0 55 47 46.0784 ZMAT2 0 genome.wustl.edu 37 5 140081626 140081626 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 140081626 140081626 C T SNP ZMAT2 ENST00000274712 human ensembl 74_37 +1 known missense c.148 p.R50W 1.000 NULL pfam_Znf_C2H2_jaz,pfam_Znf_U1-C,smart_Znf_U1 - no_errors ZMAT2 HGNC ENSG00000146007 124 0 0 46 28 37.8378 PCDHA11 0 genome.wustl.edu 37 5 140250985 140250985 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 140250985 140250985 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.2297 p.T766M 0.595 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 50 0 0 15 7 31.8182 FAT2 0 genome.wustl.edu 37 5 150885490 150885490 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 150885490 150885490 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.12686 p.P4229L 1.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 377 0 0 100 61 37.8882 ATP10B 0 genome.wustl.edu 37 5 160047922 160047922 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 160047922 160047922 C T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known silent c.1848 p.T616 0.000 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 391 1 0.255102 112 63 36 HMP19 0 genome.wustl.edu 37 5 173473785 173473785 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 173473785 173473785 C T SNP HMP19 ENST00000303177 human ensembl 74_37 +1 known silent c.27 p.S9 0.189 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG2 Uniprot_gn ENSG00000170091 218 0 0 58 40 40.8163 HK3 0 genome.wustl.edu 37 5 176314553 176314553 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 176314553 176314553 A C SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.1499 p.V500G 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 82 0 0 20 13 39.3939 DBN1 0 genome.wustl.edu 37 5 176894259 176894259 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 176894259 176894259 G A SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known silent c.558 p.A186 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 519 0 0 95 55 36.6667 ENSG00000248943 0 genome.wustl.edu 37 5 177230327 177230327 + RNA SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 177230327 177230327 G T SNP ENSG00000248943 ENST00000515739 human ensembl 74_37 -1 known rna NULL NULL 0.888 - - - no_errors RP11-1026M7.3 Clone_based_vega_gene ENSG00000248943 54 0 0 15 10 40 CDH18 0 genome.wustl.edu 37 5 19721471 19721471 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 19721471 19721471 C T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.628 p.V210I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 173 0 0 68 44 39.2857 DAB2 0 genome.wustl.edu 37 5 39382787 39382787 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 5 39382787 39382787 T C SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.1274 p.H425R 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 131 0 0 69 4 5.47945 PRDM1 0 genome.wustl.edu 37 6 106554286 106554286 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 106554286 106554286 G A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.1814 p.C605Y 1.000 smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 147 0 0 61 4 6.15385 TIAM2 0 genome.wustl.edu 37 6 155451015 155451015 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 155451015 155451015 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.658 p.A220T 0.009 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,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 TIAM2 HGNC ENSG00000146426 100 0 0 35 23 39.6552 CCR6 0 genome.wustl.edu 37 6 167550723 167550723 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 167550723 167550723 G A SNP CCR6 ENST00000341935 human ensembl 74_37 +1 known nonsense c.1005 p.W335* 1.000 prints_Chemokine_CCR6 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXCR_1/2 - no_errors CCR6 HGNC ENSG00000112486 113 0 0 38 24 38.7097 NUP153 0 genome.wustl.edu 37 6 17629625 17629625 + Silent SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 17629625 17629625 A C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known silent c.2898 p.G966 0.412 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 147 0 0 39 29 42.6471 HIST1H1C 0 genome.wustl.edu 37 6 26056223 26056223 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 26056223 26056223 G C SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known missense c.434 p.A145G 0.165 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 203 0 0 46 55 54.4554 HIST1H1C 0 genome.wustl.edu 37 6 26056250 26056250 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 26056250 26056250 T A SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known missense c.407 p.K136M 1.000 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 181 0 0 58 35 37.6344 HIST1H2BK 0 genome.wustl.edu 37 6 27114202 27114202 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 27114202 27114202 T C SNP HIST1H2BK ENST00000356950 human ensembl 74_37 -1 known missense c.376 p.K126E 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 215 0 0 55 18 24.6575 HIST1H2BK 0 genome.wustl.edu 37 6 27114211 27114211 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 27114211 27114211 T C SNP HIST1H2BK ENST00000356950 human ensembl 74_37 -1 known missense c.367 p.T123A 1.000 superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 215 0 0 56 21 27.2727 HIST1H2BK 0 genome.wustl.edu 37 6 27114498 27114498 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 27114498 27114498 C T SNP HIST1H2BK ENST00000356950 human ensembl 74_37 -1 known missense c.80 p.G27D 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 407 0 0 130 56 30.1075 HIST1H2AJ 0 genome.wustl.edu 37 6 27782505 27782505 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 27782505 27782505 C A SNP HIST1H2AJ ENST00000333151 human ensembl 74_37 -1 known missense c.14 p.G5V 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AJ HGNC ENSG00000182611 153 0 0 44 18 29.0323 OR2J2 0 genome.wustl.edu 37 6 29142227 29142227 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 29142227 29142227 G A SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known missense c.815 p.G272D 0.877 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 160 0 0 58 36 38.2979 HLA-B 0 genome.wustl.edu 37 6 31324659 31324659 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 31324659 31324659 C T SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.149 p.G50D 0.991 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 79 0 0 2 17 89.4737 NELFE 0 genome.wustl.edu 37 6 31922644 31922644 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 31922644 31922644 G C SNP NELFE ENST00000375429 human ensembl 74_37 -1 known missense c.430 p.R144G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 210 0 0 61 47 43.5185 SYNGAP1 0 genome.wustl.edu 37 6 33411705 33411705 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 33411705 33411705 G A SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.3376 p.G1126S 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 30 0 0 7 8 53.3333 LHFPL5 0 genome.wustl.edu 37 6 35773520 35773520 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 35773520 35773520 G C SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known missense c.73 p.V25L 0.861 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 241 0 0 52 39 42.8571 RNF8 0 genome.wustl.edu 37 6 37344811 37344811 + Splice_Site SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 37344811 37344811 T G SNP RNF8 ENST00000373479 human ensembl 74_37 +1 known splice_site c.1236+2 e6+2 1.000 - - - no_errors RNF8 HGNC ENSG00000112130 62 0 0 18 9 33.3333 KLC4 0 genome.wustl.edu 37 6 43029177 43029177 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 43029177 43029177 C T SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.158 p.A53V 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 80 0 0 18 15 45.4545 EEF1A1 0 genome.wustl.edu 37 6 74227767 74227767 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 74227767 74227767 T C SNP EEF1A1 ENST00000309268 human ensembl 74_37 -1 known missense c.1250 p.D417G 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 20 0 0 6 4 40 PRSS35 0 genome.wustl.edu 37 6 84234217 84234217 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 84234217 84234217 C T SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.1057 p.R353C 0.999 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 146 0 0 45 19 29.6875 ZNF292 0 genome.wustl.edu 37 6 87965269 87965269 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 87965269 87965269 A G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.1922 p.Y641C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 21 0 0 10 8 44.4444 ACHE 0 genome.wustl.edu 37 7 100491479 100491479 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 100491479 100491479 C A SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.375 p.E125D 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 270 0 0 49 26 34.6667 DOCK4 0 genome.wustl.edu 37 7 111430549 111430549 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 111430549 111430549 C A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.3279 p.M1093I 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 68 0 0 23 9 28.125 PTPRZ1 0 genome.wustl.edu 37 7 121653617 121653617 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 121653617 121653617 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.4517 p.P1506L 0.006 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 60 0 0 33 20 37.7358 PTPRZ1 0 genome.wustl.edu 37 7 121698906 121698906 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 121698906 121698906 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.6581 p.P2194L 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 103 0 0 40 30 42.8571 LMOD2 0 genome.wustl.edu 37 7 123296099 123296099 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 123296099 123296099 G A SNP LMOD2 ENST00000458573 human ensembl 74_37 +1 known missense c.82 p.E28K 1.000 pfam_Tropomodulin pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 34 0 0 11 6 35.2941 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 112 0 0 43 18 29.5082 MKLN1 0 genome.wustl.edu 37 7 131151138 131151138 + Nonsense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 131151138 131151138 T G SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known nonsense c.1892 p.L631* 1.000 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 118 0 0 47 33 41.25 KIAA1549 0 genome.wustl.edu 37 7 138602916 138602916 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 138602916 138602916 G C SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.1456 p.P486A 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 65 0 0 23 3 11.5385 KEL 0 genome.wustl.edu 37 7 142650947 142650947 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 142650947 142650947 C G SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.1021 p.E341Q 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 415 0 0 147 82 35.8079 ARHGEF5 0 genome.wustl.edu 37 7 144060683 144060683 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 144060683 144060683 G A SNP ARHGEF5 ENST00000056217 human ensembl 74_37 +1 known silent c.921 p.Q307 0.001 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 153 0 0 50 13 20.6349 CNTNAP2 0 genome.wustl.edu 37 7 146805422 146805422 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 146805422 146805422 T C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.734 p.L245P 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,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 67 0 0 20 22 52.381 ZNF862 0 genome.wustl.edu 37 7 149558351 149558351 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 149558351 149558351 T C SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.2102 p.M701T 0.994 superfamily_RNaseH-like_dom pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 38 0 0 21 3 12.5 KMT2C 0 genome.wustl.edu 37 7 151893050 151893050 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 151893050 151893050 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.4320 p.T1440 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 69 0 0 22 22 50 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 195 0 0 102 32 23.8806 MAD1L1 0 genome.wustl.edu 37 7 1937852 1937852 + Missense_Mutation SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 1937852 1937852 T C SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1982 p.D661G 1.000 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 39 0 0 11 7 38.8889 BBS9 0 genome.wustl.edu 37 7 33217127 33217127 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 33217127 33217127 G C SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.366 p.Q122H 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 134 0 0 52 25 32.4675 DDC 0 genome.wustl.edu 37 7 50566911 50566911 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 50566911 50566911 C A SNP DDC ENST00000357936 human ensembl 74_37 -1 known missense c.811 p.D271Y 0.999 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 56 0 0 13 11 45.8333 WBSCR17 0 genome.wustl.edu 37 7 70800582 70800582 + Silent SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 70800582 70800582 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.285 p.G95 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 104 1 0.952381 30 19 38.7755 SEMA3C 0 genome.wustl.edu 37 7 80418653 80418653 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 80418653 80418653 A G SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known silent c.1377 p.D459 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 217 0 0 72 34 32.0755 ERVW-1 0 genome.wustl.edu 37 7 92099520 92099520 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 92099520 92099520 G A SNP ERVW-1 ENST00000493463 human ensembl 74_37 -1 known missense c.176 p.T59I 0.327 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 247 0 0 48 37 43.5294 PPP1R9A 0 genome.wustl.edu 37 7 94539579 94539579 + Nonsense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 94539579 94539579 C T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known nonsense c.154 p.Q52* 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 55 0 0 24 13 35.1351 BAIAP2L1 0 genome.wustl.edu 37 7 97991713 97991713 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 97991713 97991713 C T SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known missense c.83 p.R28Q 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 184 0 0 59 25 29.7619 PABPC1 0 genome.wustl.edu 37 8 101730329 101730329 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 101730329 101730329 T G SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.373 p.I125L 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 158 0 0 41 10 19.6078 PABPC1 0 genome.wustl.edu 37 8 101730336 101730336 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 101730336 101730336 A C SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.366 p.F122L 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 160 0 0 37 9 19.5652 PABPC1 0 genome.wustl.edu 37 8 101730341 101730341 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 101730341 101730341 C G SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.361 p.A121P 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 160 0 0 37 7 15.9091 YWHAZ 0 genome.wustl.edu 37 8 101936211 101936211 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 101936211 101936211 A C SNP YWHAZ ENST00000353245 human ensembl 74_37 -1 known missense c.650 p.I217R 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ENSG00000164924 158 0 0 59 39 39.7959 LRP12 0 genome.wustl.edu 37 8 105503072 105503072 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 105503072 105503072 T C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.2352 p.G784 0.949 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 115 0 0 50 38 43.1818 RSPO2 0 genome.wustl.edu 37 8 109001352 109001352 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 109001352 109001352 C G SNP RSPO2 ENST00000276659 human ensembl 74_37 -1 known missense c.215 p.G72A 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 96 0 0 24 14 36.8421 CSMD3 0 genome.wustl.edu 37 8 113694863 113694863 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 113694863 113694863 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2485 p.F829L 1.000 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 106 0 0 45 28 38.3562 UTP23 0 genome.wustl.edu 37 8 117778909 117778909 + Missense_Mutation SNP C C G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 117778909 117778909 C G SNP UTP23 ENST00000309822 human ensembl 74_37 +1 known missense c.67 p.R23G 1.000 NULL pfam_Fcf1/Utp23 - no_errors UTP23 HGNC ENSG00000147679 34 0 0 5 9 64.2857 CYHR1 0 genome.wustl.edu 37 8 145689777 145689777 + Silent SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 145689777 145689777 G C SNP CYHR1 ENST00000306145 human ensembl 74_37 -1 known silent c.312 p.G104 0.858 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 195 1 0.510204 62 15 19.4805 PHYHIP 0 genome.wustl.edu 37 8 22084503 22084503 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 22084503 22084503 C T SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known silent c.201 p.P67 0.010 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 74 0 0 32 3 8.57143 DOCK5 0 genome.wustl.edu 37 8 25216495 25216495 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 25216495 25216495 G T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.2867 p.C956F 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 261 1 0.381679 71 28 28.2828 NRG1 0 genome.wustl.edu 37 8 32621289 32621289 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 32621289 32621289 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1316 p.P439L 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 168 0 0 53 35 39.7727 UNC5D 0 genome.wustl.edu 37 8 35453072 35453072 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 35453072 35453072 A C SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.467 p.Y156S 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 177 0 0 53 32 37.6471 GPR124 0 genome.wustl.edu 37 8 37688342 37688342 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 37688342 37688342 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.833 p.R278H 0.889 smart_Ig_sub,pfscan_Ig-like_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 18 0 0 2 3 60 LYN 0 genome.wustl.edu 37 8 56912001 56912001 + Missense_Mutation SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 56912001 56912001 C T SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.1229 p.T410M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 91 0 0 9 26 74.2857 TRPA1 0 genome.wustl.edu 37 8 72950287 72950287 + Silent SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 72950287 72950287 A T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.2316 p.T772 0.930 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 28 0 0 15 8 34.7826 NECAB1 0 genome.wustl.edu 37 8 91929744 91929744 + Nonsense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 8 91929744 91929744 G T SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known nonsense c.382 p.E128* 1.000 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 71 0 0 19 12 38.7097 OR13C9 0 genome.wustl.edu 37 9 107380453 107380453 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 107380453 107380453 T A SNP OR13C9 ENST00000259362 human ensembl 74_37 -1 known missense c.33 p.E11D 0.913 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 170 0 0 58 31 34.8315 ZBTB26 0 genome.wustl.edu 37 9 125681733 125681733 + Nonsense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 125681733 125681733 G A SNP ZBTB26 ENST00000373654 human ensembl 74_37 -1 known nonsense c.481 p.Q161* 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB26 HGNC ENSG00000171448 135 0 0 37 37 50 MIR602 0 genome.wustl.edu 37 9 140732882 140732882 + RNA SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 140732882 140732882 G A SNP MIR602 ENST00000384960 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR602 HGNC ENSG00000207693 339 0 0 84 66 44 FRMPD1 0 genome.wustl.edu 37 9 37745995 37745995 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 37745995 37745995 T G SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.3966 p.N1322K 0.323 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 209 0 0 57 38 40 ALDH1B1 0 genome.wustl.edu 37 9 38397141 38397141 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 38397141 38397141 G A SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known missense c.1396 p.G466R 0.998 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 97 0 0 22 17 43.5897 SEMA4D 0 genome.wustl.edu 37 9 91996119 91996119 + Missense_Mutation SNP A A T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 91996119 91996119 A T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.1589 p.V530E 0.124 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 69 0 0 19 16 45.7143 SEMA4D 0 genome.wustl.edu 37 9 91996153 91996153 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 91996153 91996153 A G SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.1555 p.Y519H 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 38 0 0 16 10 38.4615 WNK2 0 genome.wustl.edu 37 9 96030035 96030035 + Missense_Mutation SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 96030035 96030035 A G SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.3704 p.H1235R 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 WNK2 HGNC ENSG00000165238 12 0 0 1 2 66.6667 FAM120A 0 genome.wustl.edu 37 9 96326681 96326681 + Missense_Mutation SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 9 96326681 96326681 G C SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.3300 p.R1100S 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 184 0 0 44 22 33.3333 TCEAL7 0 genome.wustl.edu 37 X 102586597 102586597 + Missense_Mutation SNP A A C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 102586597 102586597 A C SNP TCEAL7 ENST00000332431 human ensembl 74_37 +1 known missense c.266 p.N89T 0.991 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL7 HGNC ENSG00000182916 317 0 0 137 50 26.738 MID2 0 genome.wustl.edu 37 X 107147196 107147196 + Silent SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 107147196 107147196 T G SNP MID2 ENST00000262843 human ensembl 74_37 +1 known silent c.825 p.T275 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 165 0 0 56 21 27.2727 TENM1 0 genome.wustl.edu 37 X 123779095 123779095 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 123779095 123779095 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1774 p.P592T 1.000 pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 514 0 0 330 82 19.9029 ARHGAP36 0 genome.wustl.edu 37 X 130218272 130218272 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 130218272 130218272 T C SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known silent c.639 p.F213 0.528 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 85 0 0 46 17 26.9841 FGF13 0 genome.wustl.edu 37 X 138286220 138286220 + Splice_Site SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 138286220 138286220 C T SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known splice_site c.49+1 e1+1 1.000 - - - no_errors FGF13 HGNC ENSG00000129682 123 0 0 45 12 21.0526 F9 0 genome.wustl.edu 37 X 138642958 138642958 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 138642958 138642958 G T SNP F9 ENST00000218099 human ensembl 74_37 +1 known missense c.782 p.W261L 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 241 0 0 111 73 39.6739 CXorf66 0 genome.wustl.edu 37 X 139038690 139038690 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 139038690 139038690 T A SNP CXorf66 ENST00000370540 human ensembl 74_37 -1 known missense c.451 p.S151C 0.002 NULL NULL - no_errors CXorf66 HGNC ENSG00000203933 537 1 0.185874 161 304 65.3763 MAGEC3 0 genome.wustl.edu 37 X 140984913 140984913 + Missense_Mutation SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 140984913 140984913 G T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.1369 p.D457Y 0.001 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 138 0 0 34 86 71.6667 MPP1 0 genome.wustl.edu 37 X 154019427 154019427 + RNA SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 154019427 154019427 G T SNP MPP1 ENST00000488754 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MPP1 HGNC ENSG00000130830 68 0 0 52 55 51.4019 F8 0 genome.wustl.edu 37 X 154194356 154194356 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 154194356 154194356 T C SNP F8 ENST00000360256 human ensembl 74_37 -1 known silent c.1332 p.K444 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 184 0 0 153 38 19.8953 MAGEB4 0 genome.wustl.edu 37 X 30260943 30260943 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 30260943 30260943 G A SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.691 p.D231N 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 116 0 0 95 7 6.86275 FAM47A 0 genome.wustl.edu 37 X 34148536 34148536 + Silent SNP A A G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 34148536 34148536 A G SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.1860 p.A620 0.026 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 133 0 0 71 28 28.2828 FAM47C 0 genome.wustl.edu 37 X 37028756 37028756 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 37028756 37028756 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2273 p.R758H 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 163 1 0.609756 65 89 57.7922 WDR45 0 genome.wustl.edu 37 X 48934088 48934088 + Splice_Site SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 48934088 48934088 C T SNP WDR45 ENST00000322995 human ensembl 74_37 -1 known splice_site c.436+1 e5+1 1.000 - - - no_errors WDR45 HGNC ENSG00000196998 252 0 0 10 114 91.9355 AR 0 genome.wustl.edu 37 X 66941680 66941680 + Missense_Mutation SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 66941680 66941680 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.2324 p.R775H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 161 0 0 76 32 29.6296 FAM155B 0 genome.wustl.edu 37 X 68749751 68749751 + Silent SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 68749751 68749751 G C SNP FAM155B ENST00000252338 human ensembl 74_37 +1 known silent c.1371 p.G457 0.977 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 73 0 0 18 18 50 AWAT2 0 genome.wustl.edu 37 X 69261763 69261763 + Silent SNP G G A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 69261763 69261763 G A SNP AWAT2 ENST00000276101 human ensembl 74_37 -1 known silent c.897 p.I299 0.195 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 181 0 0 38 60 61.2245 GDPD2 0 genome.wustl.edu 37 X 69646220 69646220 + Splice_Site SNP G G C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 69646220 69646220 G C SNP GDPD2 ENST00000453994 human ensembl 74_37 +1 known splice_site c.364-1 e5-1 0.999 - - - no_errors GDPD2 HGNC ENSG00000130055 64 0 0 16 10 38.4615 ZMYM3 0 genome.wustl.edu 37 X 70465281 70465281 + Missense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 70465281 70465281 C A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.2921 p.G974V 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 65 0 0 34 6 15 PHKA1 0 genome.wustl.edu 37 X 71932636 71932636 + Silent SNP G G T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 71932636 71932636 G T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known silent c.222 p.A74 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 68 0 0 36 15 29.4118 ZCCHC13 0 genome.wustl.edu 37 X 73524221 73524221 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 73524221 73524221 C T SNP ZCCHC13 ENST00000339534 human ensembl 74_37 +1 known silent c.120 p.S40 0.001 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ENSG00000187969 72 0 0 25 32 56.1404 ATRX 0 genome.wustl.edu 37 X 76938019 76938019 + Missense_Mutation SNP T T G TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 76938019 76938019 T G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.2729 p.K910T 0.069 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 291 0 0 297 116 28.0872 BRWD3 0 genome.wustl.edu 37 X 79955467 79955467 + Missense_Mutation SNP T T A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 79955467 79955467 T A SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.2932 p.M978L 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 36 0 0 8 11 57.8947 CYLC1 0 genome.wustl.edu 37 X 83129480 83129480 + Silent SNP C C T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 83129480 83129480 C T SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.1764 p.F588 0.045 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 66 0 0 44 18 29.0323 PABPC5 0 genome.wustl.edu 37 X 90691722 90691722 + Nonsense_Mutation SNP C C A TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 90691722 90691722 C A SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known nonsense c.1146 p.C382* 0.998 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 30 0 0 28 13 31.7073 PCDH11X 0 genome.wustl.edu 37 X 91132325 91132325 + Silent SNP T T C TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 X 91132325 91132325 T C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.1086 p.N362 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 47 0 0 60 25 29.4118 ITPKB 0 genome.wustl.edu 37 1 226924472 226924473 + Frame_Shift_Ins INS - - CTGCGAGGAG TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 1 226924472 226924473 - CTGCGAGGAG INS ITPKB ENST00000272117 human ensembl 74_37 -1 known frame_shift_ins c.688_687 p.V229fs 0.366:0.387 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 276 0 0 84 18 17.6471 FAS 0 genome.wustl.edu 37 10 90773891 90773892 + Frame_Shift_Ins INS - - T TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 10 90773891 90773892 - T INS FAS ENST00000355740 human ensembl 74_37 +1 known frame_shift_ins c.692_693 p.K231fs 0.005:0.001 superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain,prints_Fas_rcpt pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 103 0 0 57 28 32.9412 CDC42BPB 0 genome.wustl.edu 37 14 103430900 103430900 + Frame_Shift_Del DEL C C - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 14 103430900 103430900 C - DEL CDC42BPB ENST00000361246 human ensembl 74_37 -1 known frame_shift_del c.2665 p.A889fs 1.000 pfam_Myotonic_dystrophy_kinase_coil pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 95 0 0 11 11 50 THBS1 0 genome.wustl.edu 37 15 39874438 39874438 + Frame_Shift_Del DEL G G - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 15 39874438 39874438 G - DEL THBS1 ENST00000260356 human ensembl 74_37 +1 known frame_shift_del c.112 p.A39fs 0.929 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 120 0 0 22 13 37.1429 PFN1 0 genome.wustl.edu 37 17 4851608 4851640 + In_Frame_Del DEL AGTCCTTGTAGCCCACGATGGCCGCGTCCTGAC AGTCCTTGTAGCCCACGATGGCCGCGTCCTGAC - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 AGTCCTTGTAGCCCACGATGGCCGCGTCCTGAC AGTCCTTGTAGCCCACGATGGCCGCGTCCTGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 4851608 4851640 AGTCCTTGTAGCCCACGATGGCCGCGTCCTGAC - DEL PFN1 ENST00000225655 human ensembl 74_37 -1 known in_frame_del c.82_50 p.CQDAAIVGYKD17in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates - no_errors PFN1 HGNC ENSG00000108518 96 0 0 20 2 9.09091 TLK2 0 genome.wustl.edu 37 17 60663586 60663589 + Frame_Shift_Del DEL AAGT AAGT - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 17 60663586 60663589 AAGT - DEL TLK2 ENST00000326270 human ensembl 74_37 +1 known frame_shift_del c.1525_1526 p.K509fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK2 HGNC ENSG00000146872 33 0 0 16 6 27.2727 FAT4 0 genome.wustl.edu 37 4 126370525 126370525 + Frame_Shift_Del DEL C C - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 126370525 126370525 C - DEL FAT4 ENST00000394329 human ensembl 74_37 +1 known frame_shift_del c.8354 p.L2787fs 0.999 pfam_Cadherin,superfamily_Cadherin-like,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 292 1 0.341297 103 43 29.4521 HSP90AA4P 0 genome.wustl.edu 37 4 190395839 190395839 + RNA DEL A A - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 4 190395839 190395839 A - DEL HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 26 0 0 16 10 38.4615 HECA 0 genome.wustl.edu 37 6 139488008 139488008 + Frame_Shift_Del DEL G G - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 139488008 139488008 G - DEL HECA ENST00000367658 human ensembl 74_37 +1 known frame_shift_del c.859 p.G287fs 0.999 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 52 0 0 18 9 33.3333 HECA 0 genome.wustl.edu 37 6 139488378 139488378 + Frame_Shift_Del DEL A A - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 139488378 139488378 A - DEL HECA ENST00000367658 human ensembl 74_37 +1 known frame_shift_del c.1229 p.Q410fs 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 100 0 0 32 12 27.2727 EEF1A1 0 genome.wustl.edu 37 6 74229194 74229209 + Frame_Shift_Del DEL TCAGTTTATCCAAGAC TCAGTTTATCCAAGAC - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 TCAGTTTATCCAAGAC TCAGTTTATCCAAGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 6 74229194 74229209 TCAGTTTATCCAAGAC - DEL EEF1A1 ENST00000309268 human ensembl 74_37 -1 known frame_shift_del c.190_175 p.V59fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 287 0 0 88 20 18.5185 KMT2C 0 genome.wustl.edu 37 7 151845319 151845319 + Frame_Shift_Del DEL G G - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 151845319 151845319 G - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.13864 p.Q4622fs 1.000 pfam_FYrich_N,smart_FYrich_N pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 86 0 0 45 22 32.8358 KMT2C 0 genome.wustl.edu 37 7 151878910 151878910 + Frame_Shift_Del DEL G G - TCGA-CD-8531-01A-11D-2340-08 TCGA-CD-8531-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d3f6a86-acc9-489a-a234-2e8d9eaab714 043a9106-b708-4e9b-ac15-2f2e05619468 7 151878910 151878910 G - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.6035 p.P2012fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 314 0 0 92 62 40.2597