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 CD53 0 genome.wustl.edu 37 1 111435242 111435242 + RNA SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 111435242 111435242 A G SNP CD53 ENST00000471220 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD53 HGNC ENSG00000143119 60 0 0 29 11 27.5 MTMR11 0 genome.wustl.edu 37 1 149905551 149905551 + Missense_Mutation SNP C C A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 149905551 149905551 C A SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known missense c.812 p.R271L 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 98 0 0 74 14 15.9091 ARHGEF2 0 genome.wustl.edu 37 1 155932779 155932779 + Missense_Mutation SNP G G T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 155932779 155932779 G T SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.923 p.P308H 0.972 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 107 0 0 49 13 20.9677 CD1B 0 genome.wustl.edu 37 1 158299360 158299360 + Missense_Mutation SNP A A T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 158299360 158299360 A T SNP CD1B ENST00000368168 human ensembl 74_37 -1 known missense c.686 p.F229Y 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 150 0 0 71 20 21.978 SH2D1B 0 genome.wustl.edu 37 1 162381814 162381814 + RNA SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 162381814 162381814 G A SNP SH2D1B ENST00000493550 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SH2D1B HGNC ENSG00000198574 52 0 0 42 10 19.2308 CACNA1E 0 genome.wustl.edu 37 1 181741317 181741317 + Missense_Mutation SNP G G T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 181741317 181741317 G T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.5089 p.D1697Y 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 141 0 0 96 17 15.0442 HMCN1 0 genome.wustl.edu 37 1 186084051 186084051 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 186084051 186084051 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11377 p.R3793C 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 142 0 0 118 32 21.3333 EPHA8 0 genome.wustl.edu 37 1 22925447 22925447 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 22925447 22925447 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known silent c.2295 p.N765 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 39 0 0 12 5 29.4118 OR2M5 0 genome.wustl.edu 37 1 248308867 248308867 + Missense_Mutation SNP A A C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 248308867 248308867 A C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.418 p.I140L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 374 1 0.266667 302 39 11.437 ARID1A 0 genome.wustl.edu 37 1 27106861 27106861 + Nonsense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 27106861 27106861 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.6472 p.R2158* 1.000 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 164 0 0 87 9 9.375 CSMD2 0 genome.wustl.edu 37 1 34312570 34312570 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 34312570 34312570 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.948 p.P316 0.966 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 67 0 0 34 5 12.8205 LEPRE1 0 genome.wustl.edu 37 1 43225051 43225051 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 43225051 43225051 C T SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.629 p.R210Q 0.997 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 51 0 0 18 2 10 MPL 0 genome.wustl.edu 37 1 43804274 43804274 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 43804274 43804274 G A SNP MPL ENST00000372470 human ensembl 74_37 +1 known missense c.274 p.V92M 0.002 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 96 0 0 81 14 14.7368 NPHP4 0 genome.wustl.edu 37 1 5923345 5923345 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 5923345 5923345 C T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.4261 p.V1421M 1.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 111 0 0 71 13 15.4762 SORCS3 0 genome.wustl.edu 37 10 107015496 107015496 + Missense_Mutation SNP T T G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 10 107015496 107015496 T G SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.3274 p.L1092V 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 46 0 0 38 5 11.6279 NHLRC2 0 genome.wustl.edu 37 10 115668195 115668195 + Missense_Mutation SNP G G T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 10 115668195 115668195 G T SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known missense c.2081 p.S694I 1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 89 0 0 74 11 12.9412 TET1 0 genome.wustl.edu 37 10 70446268 70446268 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 10 70446268 70446268 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.5208 p.V1736 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 76 0 0 76 11 12.6437 GRID1 0 genome.wustl.edu 37 10 87484323 87484323 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 10 87484323 87484323 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.1644 p.P548 0.001 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 58 0 0 58 13 18.3099 DDI1 0 genome.wustl.edu 37 11 103907764 103907764 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 103907764 103907764 G A SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.214 p.V72M 0.037 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 253 0 0 167 12 6.70391 OR4C46 0 genome.wustl.edu 37 11 51515611 51515611 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 51515611 51515611 C T SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known silent c.330 p.G110 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 135 0 0 134 8 5.6338 PC 0 genome.wustl.edu 37 11 66617864 66617864 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 66617864 66617864 C T SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.2545 p.D849N 1.000 pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 106 0 0 54 5 8.47458 P2RY6 0 genome.wustl.edu 37 11 73008215 73008215 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 73008215 73008215 C T SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.652 p.R218C 0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 320 1 0.311526 110 23 17.2932 RSF1 0 genome.wustl.edu 37 11 77411864 77411864 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 77411864 77411864 C T SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.2410 p.E804K 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 94 0 0 81 5 5.81395 OR5P2 0 genome.wustl.edu 37 11 7817743 7817743 + Silent SNP C C A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 7817743 7817743 C A SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known silent c.747 p.G249 0.326 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P2 HGNC ENSG00000183303 91 0 0 73 13 15.1163 OR10A3 0 genome.wustl.edu 37 11 7960148 7960148 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 7960148 7960148 C T SNP OR10A3 ENST00000360759 human ensembl 74_37 -1 known missense c.920 p.R307K 0.016 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A3 HGNC ENSG00000170683 65 0 0 56 15 21.1268 C11orf16 0 genome.wustl.edu 37 11 8951070 8951070 + Missense_Mutation SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 8951070 8951070 A G SNP C11orf16 ENST00000326053 human ensembl 74_37 -1 known missense c.178 p.S60P 0.000 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 37 0 0 13 3 18.75 FAT3 0 genome.wustl.edu 37 11 92616096 92616096 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 92616096 92616096 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.12474 p.I4158 1.000 NULL 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 35 0 0 14 3 17.6471 IPO7 0 genome.wustl.edu 37 11 9435873 9435873 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 9435873 9435873 G A SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.551 p.R184H 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 70 0 0 66 17 20.4819 MAML2 0 genome.wustl.edu 37 11 95825797 95825797 + Silent SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 95825797 95825797 A G SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.1398 p.S466 0.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 131 0 0 65 9 12.1622 CNTN5 0 genome.wustl.edu 37 11 99932018 99932018 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 99932018 99932018 C T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1055 p.A352V 0.980 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 101 1 0.980392 89 7 7.29167 MLXIP 0 genome.wustl.edu 37 12 122617978 122617978 + Silent SNP T T G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 12 122617978 122617978 T G SNP MLXIP ENST00000319080 human ensembl 74_37 +1 known silent c.1176 p.A392 0.021 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 101 0 0 57 5 8.06452 VPS37B 0 genome.wustl.edu 37 12 123380549 123380549 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 12 123380549 123380549 G A SNP VPS37B ENST00000267202 human ensembl 74_37 -1 known silent c.61 p.L21 1.000 pfam_Mod_r pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 156 0 0 62 6 8.82353 GALNT9 0 genome.wustl.edu 37 12 132682498 132682498 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 12 132682498 132682498 G A SNP GALNT9 ENST00000328957 human ensembl 74_37 -1 known missense c.1504 p.R502W 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 28 0 0 11 7 38.8889 GRIN2B 0 genome.wustl.edu 37 12 13717533 13717533 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 12 13717533 13717533 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.2639 p.R880H 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 146 0 0 74 20 21.2766 RAB20 0 genome.wustl.edu 37 13 111176519 111176519 + Silent SNP G G T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 13 111176519 111176519 G T SNP RAB20 ENST00000267328 human ensembl 74_37 -1 known silent c.198 p.G66 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB20 HGNC ENSG00000139832 117 0 0 43 7 14 GRK1 0 genome.wustl.edu 37 13 114325921 114325921 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 13 114325921 114325921 G A SNP GRK1 ENST00000335678 human ensembl 74_37 +1 known missense c.935 p.R312Q 0.653 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 58 0 0 33 6 15.3846 WBP4 0 genome.wustl.edu 37 13 41642805 41642805 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 13 41642805 41642805 C T SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known missense c.371 p.S124L 0.932 smart_WW_dom,pfscan_WW_dom pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 51 0 0 37 9 19.5652 DIAPH3 0 genome.wustl.edu 37 13 60407354 60407354 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 13 60407354 60407354 C T SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.2914 p.E972K 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 36 0 0 29 10 25.641 FITM1 0 genome.wustl.edu 37 14 24601501 24601501 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 14 24601501 24601501 G A SNP FITM1 ENST00000267426 human ensembl 74_37 +1 known silent c.348 p.R116 0.997 pfam_FIT pfam_FIT - no_errors FITM1 HGNC ENSG00000139914 94 0 0 35 11 23.913 LRRK1 0 genome.wustl.edu 37 15 101588825 101588825 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 15 101588825 101588825 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.3262 p.E1088K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 132 0 0 59 18 23.3766 FAN1 0 genome.wustl.edu 37 15 31218089 31218089 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 15 31218089 31218089 G A SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.2435 p.C812Y 1.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 338 0 0 151 21 12.2093 LCMT2 0 genome.wustl.edu 37 15 43621183 43621183 + Missense_Mutation SNP C C A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 15 43621183 43621183 C A SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known missense c.1505 p.S502I 0.037 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 110 0 0 93 21 18.4211 B2M 0 genome.wustl.edu 37 15 45007694 45007694 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 15 45007694 45007694 G A SNP B2M ENST00000557901 human ensembl 74_37 +1 known missense c.130 p.V44I 0.195 NULL NULL - no_errors B2M HGNC ENSG00000166710 151 0 0 72 19 20.8791 ZNF646 0 genome.wustl.edu 37 16 31091209 31091209 + Silent SNP T T C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 31091209 31091209 T C SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known silent c.3564 p.T1188 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 38 0 0 22 4 15.3846 NAGPA 0 genome.wustl.edu 37 16 5075633 5075633 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 5075633 5075633 G A SNP NAGPA ENST00000312251 human ensembl 74_37 -1 known missense c.1394 p.T465I 0.000 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 87 0 0 34 4 10.5263 SALL1 0 genome.wustl.edu 37 16 51171162 51171162 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 51171162 51171162 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.3836 p.T1279M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 83 0 0 45 12 21.0526 LPCAT2 0 genome.wustl.edu 37 16 55616898 55616898 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 55616898 55616898 C T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1523 p.T508M 0.990 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 81 0 0 46 7 13.2075 CCDC135 0 genome.wustl.edu 37 16 57760055 57760055 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 57760055 57760055 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1834 p.A612T 0.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 102 0 0 31 4 11.4286 LRRC36 0 genome.wustl.edu 37 16 67401083 67401083 + Silent SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 67401083 67401083 A G SNP LRRC36 ENST00000329956 human ensembl 74_37 +1 known silent c.918 p.S306 0.076 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 130 0 0 90 23 20.354 DPEP3 0 genome.wustl.edu 37 16 68012304 68012304 + Missense_Mutation SNP G G T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 68012304 68012304 G T SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known missense c.627 p.N209K 0.067 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 83 0 0 40 16 28.5714 CHST5 0 genome.wustl.edu 37 16 75563320 75563320 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 75563320 75563320 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known silent c.981 p.L327 0.103 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 246 0 0 56 18 24.3243 VAT1L 0 genome.wustl.edu 37 16 78005791 78005791 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 78005791 78005791 C T SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known silent c.1122 p.G374 0.995 smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 252 0 0 244 22 8.27068 TAF1C 0 genome.wustl.edu 37 16 84217037 84217037 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 84217037 84217037 G A SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known silent c.297 p.V99 0.002 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 35 0 0 16 5 23.8095 ANKRD11 0 genome.wustl.edu 37 16 89349170 89349170 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 89349170 89349170 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.3780 p.S1260 0.000 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 82 0 0 57 13 18.5714 KRTAP4-11 0 genome.wustl.edu 37 17 39274235 39274235 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 39274235 39274235 G A SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known silent c.333 p.R111 0.048 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 83 0 0 30 3 9.09091 STAT5A 0 genome.wustl.edu 37 17 40441987 40441987 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 40441987 40441987 G A SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.232 p.E78K 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 20 0 0 10 2 16.6667 KPNB1 0 genome.wustl.edu 37 17 45757451 45757451 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 45757451 45757451 G A SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.2419 p.D807N 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 123 0 0 122 17 12.2302 ABCC3 0 genome.wustl.edu 37 17 48735443 48735443 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 48735443 48735443 G A SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.487 p.G163S 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 227 0 0 106 17 13.8211 TBX2 0 genome.wustl.edu 37 17 59485555 59485555 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 59485555 59485555 C T SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel silent c.1827 p.S609 1.000 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 123 0 0 36 5 12.1951 TEKT1 0 genome.wustl.edu 37 17 6704227 6704227 + Silent SNP A A T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 6704227 6704227 A T SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known silent c.888 p.I296 0.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 179 0 0 76 25 24.7525 CHRNB1 0 genome.wustl.edu 37 17 7357777 7357777 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 7357777 7357777 G A SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known missense c.982 p.V328M 0.474 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 116 0 0 82 6 6.81818 DNAH17 0 genome.wustl.edu 37 17 76471426 76471426 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 76471426 76471426 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.8403 p.A2801 0.378 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 156 0 0 54 19 26.0274 CDH2 0 genome.wustl.edu 37 18 25727654 25727654 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 18 25727654 25727654 C T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.155 p.G52E 1.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 44 0 0 36 8 18.1818 EPB41L3 0 genome.wustl.edu 37 18 5416274 5416274 + Missense_Mutation SNP C C A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 18 5416274 5416274 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.1610 p.C537F 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 82 0 0 57 14 19.7183 SERPINB3 0 genome.wustl.edu 37 18 61322928 61322928 + Missense_Mutation SNP T T G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 18 61322928 61322928 T G SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known missense c.1136 p.N379T 0.037 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 169 0 0 112 31 21.6783 PGLYRP2 0 genome.wustl.edu 37 19 15582775 15582775 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 15582775 15582775 C T SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known silent c.1269 p.T423 0.000 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 87 0 0 20 10 33.3333 CPAMD8 0 genome.wustl.edu 37 19 17108020 17108020 + Silent SNP C C A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 17108020 17108020 C A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.1137 p.A379 0.089 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 65 0 0 23 6 20.6897 ZNF826P 0 genome.wustl.edu 37 19 20591829 20591829 + RNA SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 20591829 20591829 C T SNP ZNF826P ENST00000601992 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors ZNF826P HGNC ENSG00000231205 20 0 0 29 6 17.1429 ZNF536 0 genome.wustl.edu 37 19 31039370 31039370 + Silent SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 31039370 31039370 A G SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.2844 p.K948 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 193 0 0 165 30 15.3846 RAB4B 0 genome.wustl.edu 37 19 41289827 41289827 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 41289827 41289827 C T SNP RAB4B ENST00000357052 human ensembl 74_37 +1 known missense c.277 p.R93W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4B HGNC ENSG00000167578 111 1 0.892857 39 4 9.30233 AXL 0 genome.wustl.edu 37 19 41726556 41726556 + Missense_Mutation SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 41726556 41726556 A G SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.101 p.E34G 0.000 pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 18 0 0 4 3 42.8571 FBXO46 0 genome.wustl.edu 37 19 46215709 46215709 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 46215709 46215709 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.1045 p.P349S 0.927 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 60 0 0 17 3 15 PNKP 0 genome.wustl.edu 37 19 50367302 50367302 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 50367302 50367302 G A SNP PNKP ENST00000322344 human ensembl 74_37 -1 known silent c.663 p.S221 1.000 pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,superfamily_P-loop_NTPase,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 69 0 0 29 6 17.1429 MYH14 0 genome.wustl.edu 37 19 50753938 50753938 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 50753938 50753938 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.1823 p.A608V 0.995 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 79 0 0 37 9 19.5652 FPR2 0 genome.wustl.edu 37 19 52272221 52272221 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 52272221 52272221 G A SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.310 p.V104M 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 130 0 0 69 23 25 LILRB4 0 genome.wustl.edu 37 19 55179194 55179194 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 55179194 55179194 C T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.1150 p.L384 0.000 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 56 0 0 36 7 16.2791 ZSCAN5B 0 genome.wustl.edu 37 19 56701542 56701542 + Missense_Mutation SNP C C A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 56701542 56701542 C A SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known missense c.1142 p.R381I 0.950 pfscan_Znf_C2H2 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 ZSCAN5B HGNC ENSG00000197213 88 0 0 47 7 12.963 ZNF835 0 genome.wustl.edu 37 19 57175578 57175578 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 57175578 57175578 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.989 p.G330D 0.878 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 46 0 0 22 4 15.3846 ATP6V1C2 0 genome.wustl.edu 37 2 10912017 10912017 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 2 10912017 10912017 G A SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.523 p.V175M 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 181 0 0 106 21 16.5354 DPP10 0 genome.wustl.edu 37 2 116101485 116101485 + Missense_Mutation SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 2 116101485 116101485 A G SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.280 p.N94D 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 48 0 0 24 5 17.2414 MCM6 0 genome.wustl.edu 37 2 136616960 136616960 + Missense_Mutation SNP T T C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 2 136616960 136616960 T C SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known missense c.1273 p.S425G 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 50 0 0 38 11 22.449 THSD7B 0 genome.wustl.edu 37 2 138414450 138414450 + Missense_Mutation SNP G G T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 2 138414450 138414450 G T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.4199 p.R1400L 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 97 0 0 64 12 15.7895 B3GNT7 0 genome.wustl.edu 37 2 232262881 232262881 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 2 232262881 232262881 G A SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known missense c.451 p.E151K 0.999 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 35 0 0 13 3 18.75 HDAC4 0 genome.wustl.edu 37 2 240003864 240003864 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 2 240003864 240003864 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known silent c.2571 p.V857 0.459 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 164 0 0 66 13 16.4557 EIF2B4 0 genome.wustl.edu 37 2 27587757 27587757 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 2 27587757 27587757 C T SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known silent c.1200 p.K400 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 30 0 0 24 7 22.5806 ZAP70 0 genome.wustl.edu 37 2 98354511 98354511 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 2 98354511 98354511 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.1677 p.E559 0.997 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 32 0 0 20 4 16.6667 TRPM2 0 genome.wustl.edu 37 21 45861719 45861719 + RNA SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 21 45861719 45861719 C T SNP TRPM2 ENST00000490982 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors TRPM2 HGNC ENSG00000142185 99 0 0 29 9 23.6842 COL6A2 0 genome.wustl.edu 37 21 47531946 47531946 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 21 47531946 47531946 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.169 p.V57I 0.995 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 131 0 0 50 14 21.875 AP1B1 0 genome.wustl.edu 37 22 29727456 29727456 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 22 29727456 29727456 C T SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known missense c.2506 p.V836M 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 253 0 0 129 23 15.1316 NUP210 0 genome.wustl.edu 37 3 13399786 13399786 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 3 13399786 13399786 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.2264 p.A755V 0.057 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 142 0 0 61 6 8.95522 ZBTB38 0 genome.wustl.edu 37 3 141162486 141162486 + Missense_Mutation SNP G G C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 3 141162486 141162486 G C SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.1259 p.G420A 0.001 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 75 0 0 62 12 16.2162 CCDC71 0 genome.wustl.edu 37 3 49201319 49201319 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 3 49201319 49201319 C T SNP CCDC71 ENST00000321895 human ensembl 74_37 -1 known missense c.323 p.R108Q 0.002 NULL NULL - no_errors CCDC71 HGNC ENSG00000177352 122 0 0 39 5 11.3636 PDZRN3 0 genome.wustl.edu 37 3 73433369 73433369 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 3 73433369 73433369 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2348 p.A783V 0.089 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 83 0 0 29 4 12.1212 CNTN3 0 genome.wustl.edu 37 3 74350678 74350678 + Missense_Mutation SNP T T C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 3 74350678 74350678 T C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1966 p.K656E 0.116 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 104 0 0 82 15 15.4639 CNTN3 0 genome.wustl.edu 37 3 74385746 74385746 + Silent SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 3 74385746 74385746 A G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.1428 p.T476 0.046 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 65 0 0 53 5 8.62069 CPNE9 0 genome.wustl.edu 37 3 9754697 9754697 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 3 9754697 9754697 C T SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known missense c.584 p.T195M 0.992 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 47 0 0 23 7 23.3333 C4orf21 0 genome.wustl.edu 37 4 113538634 113538634 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 4 113538634 113538634 C T SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.2564 p.G855E 0.000 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 64 0 0 52 7 11.8644 LRBA 0 genome.wustl.edu 37 4 151223860 151223860 + Missense_Mutation SNP T T A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 4 151223860 151223860 T A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.7967 p.Y2656F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 108 0 0 74 19 20.4301 TRIML2 0 genome.wustl.edu 37 4 189012685 189012685 + Missense_Mutation SNP C C G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 4 189012685 189012685 C G SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.1006 p.V336L 0.974 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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 131 0 0 103 26 20.155 ADAMTS19 0 genome.wustl.edu 37 5 128844930 128844930 + Missense_Mutation SNP T T G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 128844930 128844930 T G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.890 p.I297S 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 52 0 0 29 10 25.641 PCDHB13 0 genome.wustl.edu 37 5 140595117 140595117 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 140595117 140595117 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1422 p.S474 0.035 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 354 0 0 151 30 16.5746 PCDHGB6 0 genome.wustl.edu 37 5 140789451 140789451 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 140789451 140789451 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.1682 p.R561Q 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 44 0 0 18 3 14.2857 HDAC3 0 genome.wustl.edu 37 5 141009657 141009657 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 141009657 141009657 C T SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known missense c.317 p.R106H 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 125 0 0 70 17 19.5402 PPP2R2B 0 genome.wustl.edu 37 5 145979951 145979951 + Missense_Mutation SNP T T G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 145979951 145979951 T G SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known missense c.1061 p.K354T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 90 0 0 53 21 28.3784 ANKH 0 genome.wustl.edu 37 5 14871450 14871450 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 14871450 14871450 C T SNP ANKH ENST00000505140 human ensembl 74_37 -1 known missense c.107 p.G36D 0.038 NULL pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 53 0 0 20 7 25.9259 BASP1 0 genome.wustl.edu 37 5 17275371 17275371 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 17275371 17275371 G A SNP BASP1 ENST00000322611 human ensembl 74_37 +1 known missense c.46 p.D16N 1.000 pfam_BASP1 pfam_BASP1 - no_errors BASP1 HGNC ENSG00000176788 52 0 0 34 9 20.9302 ADAMTS12 0 genome.wustl.edu 37 5 33624378 33624378 + Missense_Mutation SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 33624378 33624378 A G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2101 p.C701R 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 72 0 0 59 8 11.9403 LMBRD2 0 genome.wustl.edu 37 5 36122478 36122478 + Missense_Mutation SNP T T C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 36122478 36122478 T C SNP LMBRD2 ENST00000296603 human ensembl 74_37 -1 known missense c.1024 p.K342E 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD2 HGNC ENSG00000164187 44 0 0 38 4 9.52381 WDR70 0 genome.wustl.edu 37 5 37381716 37381716 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 37381716 37381716 G A SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.104 p.R35H 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 92 0 0 102 12 10.5263 CARD6 0 genome.wustl.edu 37 5 40852977 40852977 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 40852977 40852977 G A SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known missense c.1543 p.D515N 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 92 0 0 64 18 21.9512 MROH2B 0 genome.wustl.edu 37 5 41009497 41009497 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 41009497 41009497 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.3305 p.T1102I 0.905 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 86 0 0 102 7 6.42202 MROH2B 0 genome.wustl.edu 37 5 41065470 41065470 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 5 41065470 41065470 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known silent c.324 p.F108 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 29 0 0 24 6 20 GJA1 0 genome.wustl.edu 37 6 121768197 121768197 + Missense_Mutation SNP G G C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 6 121768197 121768197 G C SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.204 p.K68N 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 62 0 0 52 17 24.6377 HECA 0 genome.wustl.edu 37 6 139488014 139488014 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 6 139488014 139488014 C T SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.865 p.R289C 0.998 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 54 0 0 18 3 14.2857 UHRF1BP1 0 genome.wustl.edu 37 6 34826708 34826708 + Missense_Mutation SNP A A G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 6 34826708 34826708 A G SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.2575 p.M859V 0.196 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 130 0 0 94 7 6.93069 EYS 0 genome.wustl.edu 37 6 66204928 66204928 + Missense_Mutation SNP A A C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 6 66204928 66204928 A C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.376 p.F126V 0.994 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 72 0 0 47 7 12.963 ZNHIT1 0 genome.wustl.edu 37 7 100865902 100865902 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 7 100865902 100865902 G A SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known missense c.40 p.G14R 0.982 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 269 0 0 81 27 25 AASS 0 genome.wustl.edu 37 7 121753715 121753715 + Missense_Mutation SNP T T G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 7 121753715 121753715 T G SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.1103 p.E368A 1.000 pfam_AlaDH/PNT_NAD(H)-bd pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 44 0 0 50 4 7.40741 PLXNA4 0 genome.wustl.edu 37 7 132193311 132193311 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 7 132193311 132193311 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.142 p.A48T 0.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 66 0 0 32 8 20 CAMK2B 0 genome.wustl.edu 37 7 44259846 44259846 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 7 44259846 44259846 G A SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known missense c.1816 p.H606Y 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2B HGNC ENSG00000058404 107 0 0 40 7 14.8936 KCTD7 0 genome.wustl.edu 37 7 66274183 66274183 + Missense_Mutation SNP C C A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 7 66274183 66274183 C A SNP KCTD7 ENST00000380828 human ensembl 74_37 +1 known missense c.1508 p.P503Q 0.758 NULL pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20 - no_errors KCTD7 HGNC ENSG00000243335 95 0 0 62 6 8.82353 RIMS2 0 genome.wustl.edu 37 8 105235914 105235914 + Missense_Mutation SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 8 105235914 105235914 C T SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known missense c.35 p.A12V 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 32 0 0 18 5 21.7391 KCNV1 0 genome.wustl.edu 37 8 110980712 110980712 + Missense_Mutation SNP T T G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 8 110980712 110980712 T G SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.1108 p.S370R 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 65 0 0 72 4 5.26316 EPPK1 0 genome.wustl.edu 37 8 144946345 144946345 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 8 144946345 144946345 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.1077 p.A359 0.992 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 43 0 0 12 4 25 UNC5D 0 genome.wustl.edu 37 8 35588553 35588553 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 8 35588553 35588553 G A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1705 p.G569S 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 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 45 0 0 34 5 12.8205 PLEKHA2 0 genome.wustl.edu 37 8 38810163 38810163 + Missense_Mutation SNP T T A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 8 38810163 38810163 T A SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known missense c.643 p.W215R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 30 0 0 20 4 16.6667 BARHL1 0 genome.wustl.edu 37 9 135458244 135458244 + Silent SNP C C T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 9 135458244 135458244 C T SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known silent c.60 p.P20 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 161 1 0.617284 55 12 17.9104 KGFLP2 0 genome.wustl.edu 37 9 41962661 41962661 + RNA SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 9 41962661 41962661 G A SNP KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 16 0 0 28 5 15.1515 KGFLP2 0 genome.wustl.edu 37 9 41962666 41962666 + RNA SNP T T G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 9 41962666 41962666 T G SNP KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 16 0 0 25 3 10.7143 ZFAND5 0 genome.wustl.edu 37 9 74975571 74975571 + Missense_Mutation SNP G G T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 9 74975571 74975571 G T SNP ZFAND5 ENST00000237937 human ensembl 74_37 -1 known missense c.124 p.Q42K 1.000 pfscan_Znf_A20 pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND5 HGNC ENSG00000107372 190 0 0 154 23 12.9944 SAGE1 0 genome.wustl.edu 37 X 134983755 134983755 + Missense_Mutation SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 X 134983755 134983755 G A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.125 p.G42E 0.000 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 62 0 0 76 8 9.52381 MAGEC1 0 genome.wustl.edu 37 X 140993377 140993377 + Missense_Mutation SNP T T C TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 X 140993377 140993377 T C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.187 p.S63P 0.695 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 87 0 0 78 5 6.0241 NAP1L3 0 genome.wustl.edu 37 X 92927365 92927365 + Silent SNP G G A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 X 92927365 92927365 G A SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known silent c.939 p.D313 0.052 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 49 0 0 27 6 18.1818 CD101 0 genome.wustl.edu 37 1 117564422 117564423 + Frame_Shift_Ins INS - - A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 1 117564422 117564423 - A INS CD101 ENST00000256652 human ensembl 74_37 +1 known frame_shift_ins c.2245_2246 p.F751fs 1.000:0.998 pfam_Ig_V-set,smart_Ig_sub,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 CD101 HGNC ENSG00000134256 100 0 0 61 7 10.2941 C11orf82 0 genome.wustl.edu 37 11 82642855 82642863 + Frame_Shift_Del DEL GCACTAGTG GCACTAGTG - TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 GCACTAGTG GCACTAGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 11 82642855 82642863 GCACTAGTG - DEL C11orf82 ENST00000524921 human ensembl 74_37 +1 putative frame_shift_del c.357_363 p.K119fs 0.003:0.000:0.000:0.044:0.385:0.001:0.014 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 127 0 0 133 14 9.52381 DISP2 0 genome.wustl.edu 37 15 40660756 40660757 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 15 40660756 40660757 CT - DEL DISP2 ENST00000267889 human ensembl 74_37 +1 known frame_shift_del c.2443_2444 p.C816fs 0.574:0.636 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 169 0 0 48 12 20 SEMA6D 0 genome.wustl.edu 37 15 48056943 48056944 + Frame_Shift_Ins INS - - T TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 15 48056943 48056944 - T INS SEMA6D ENST00000316364 human ensembl 74_37 +1 known frame_shift_ins c.1206_1207 p.V402fs 0.002:0.997 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 67 0 0 49 9 15.5172 TCF12 0 genome.wustl.edu 37 15 57545536 57545536 + Frame_Shift_Del DEL C C - TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 15 57545536 57545536 C - DEL TCF12 ENST00000438423 human ensembl 74_37 +1 known frame_shift_del c.1337 p.T447fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 100 0 0 86 8 8.51064 C16orf45 0 genome.wustl.edu 37 16 15680718 15680718 + RNA DEL C C - TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 16 15680718 15680718 C - DEL C16orf45 ENST00000565913 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors C16orf45 HGNC ENSG00000166780 11 0 0 4 3 42.8571 POLDIP2 0 genome.wustl.edu 37 17 26684394 26684395 + Splice_Site INS - - G TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 17 26684394 26684395 - G INS POLDIP2 ENST00000540200 human ensembl 74_37 -1 known splice_site_ins c.78+1_78+1 e1+1 0.018:0.002 - - - no_errors POLDIP2 HGNC ENSG00000004142 19 0 0 5 3 37.5 KANK3 0 genome.wustl.edu 37 19 8387740 8387741 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 19 8387740 8387741 TC - DEL KANK3 ENST00000330915 human ensembl 74_37 -1 known frame_shift_del c.2449_2448 p.N817fs 0.030:0.020 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 50 0 0 26 5 16.129 CPA3 0 genome.wustl.edu 37 3 148597581 148597582 + Frame_Shift_Ins INS - - A TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 3 148597581 148597582 - A INS CPA3 ENST00000296046 human ensembl 74_37 +1 known frame_shift_ins c.481_482 p.N163fs 0.370:0.260 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC ENSG00000163751 90 0 0 49 9 15.5172 VKORC1L1 0 genome.wustl.edu 37 7 65419353 65419354 + In_Frame_Ins INS - - TTA TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 7 65419353 65419354 - TTA INS VKORC1L1 ENST00000434382 human ensembl 74_37 +1 novel in_frame_ins c.487_488 p.167in_frame_insI 0.994:0.999 NULL pfam_VKOR - no_errors VKORC1L1 HGNC ENSG00000196715 14 0 0 4 2 33.3333 PTPN12 0 genome.wustl.edu 37 7 77256638 77256638 + Frame_Shift_Del DEL C C - TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 7 77256638 77256638 C - DEL PTPN12 ENST00000248594 human ensembl 74_37 +1 known frame_shift_del c.1642 p.P548fs 0.002 pirsf_Ptpn_12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 124 0 0 106 7 6.19469 MRPS28 0 genome.wustl.edu 37 8 80942415 80942417 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4G3-01A-11D-A24D-08 TCGA-HU-A4G3-10A-01D-A24F-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d83776d-2358-427a-bc55-0ae429559d41 bbf11eb7-0258-4973-be54-d8dd4e11baf1 8 80942415 80942417 GAA - DEL MRPS28 ENST00000276585 human ensembl 74_37 -1 known in_frame_del c.69_67 p.F23in_frame_del 0.000:0.000:0.000 NULL pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold - no_errors MRPS28 HGNC ENSG00000147586 66 0 0 32 6 15.7895