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 SPAG17 0 genome.wustl.edu 37 1 118581983 118581983 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 118581983 118581983 T C SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.3251 p.K1084R 0.002 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 66 0 0 102 22 17.7419 TCHH 0 genome.wustl.edu 37 1 152084596 152084596 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 152084596 152084596 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.1097 p.R366H 0.005 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 112 0 0 97 20 17.094 RNASEL 0 genome.wustl.edu 37 1 182555204 182555204 + Silent SNP T T G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 182555204 182555204 T G SNP RNASEL ENST00000367559 human ensembl 74_37 -1 known silent c.738 p.A246 0.914 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 68 0 0 82 20 19.6078 BRINP3 0 genome.wustl.edu 37 1 190067820 190067820 + Missense_Mutation SNP C C G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 190067820 190067820 C G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1629 p.K543N 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 102 0 0 111 25 18.3824 MTR 0 genome.wustl.edu 37 1 237058743 237058743 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 237058743 237058743 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.3491 p.R1164H 0.997 pfam_VitB12-dep_Met_synth_activ_dom,superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 22 0 0 14 6 30 ARID1A 0 genome.wustl.edu 37 1 27023420 27023420 + Nonsense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 27023420 27023420 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.526 p.Q176* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 19 0 0 11 5 31.25 PRDM16 0 genome.wustl.edu 37 1 3319509 3319509 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 3319509 3319509 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.831 p.S277 0.274 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 138 1 0.719424 59 52 46.8468 SFPQ 0 genome.wustl.edu 37 1 35657111 35657111 + Missense_Mutation SNP G G C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 35657111 35657111 G C SNP SFPQ ENST00000357214 human ensembl 74_37 -1 known missense c.848 p.S283C 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 42 0 0 78 24 23.5294 ZYG11B 0 genome.wustl.edu 37 1 53261986 53261986 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 1 53261986 53261986 A G SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known missense c.1357 p.M453V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 50 0 0 57 15 20.8333 ENTPD7 0 genome.wustl.edu 37 10 101458523 101458523 + Missense_Mutation SNP T T G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 10 101458523 101458523 T G SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.1243 p.F415V 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 62 0 0 76 20 20.8333 DPYSL4 0 genome.wustl.edu 37 10 134016171 134016171 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 10 134016171 134016171 G A SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.1303 p.E435K 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 129 0 0 107 25 18.9394 CUBN 0 genome.wustl.edu 37 10 16996518 16996518 + Silent SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 10 16996518 16996518 G T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.4725 p.S1575 0.056 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 73 0 0 68 15 18.0723 RET 0 genome.wustl.edu 37 10 43600608 43600608 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 10 43600608 43600608 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known silent c.834 p.T278 0.381 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 79 0 0 47 12 20.339 GRID1 0 genome.wustl.edu 37 10 87484322 87484322 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 10 87484322 87484322 C T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1645 p.E549K 1.000 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 84 0 0 105 24 18.6047 DSCAML1 0 genome.wustl.edu 37 11 117376176 117376176 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 117376176 117376176 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.2235 p.I745 0.920 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 121 1 0.819672 76 14 15.5556 E2F8 0 genome.wustl.edu 37 11 19256429 19256429 + Nonsense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 19256429 19256429 T A SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known nonsense c.628 p.K210* 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 76 0 0 81 14 14.7368 RAPSN 0 genome.wustl.edu 37 11 47463391 47463391 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 47463391 47463391 C T SNP RAPSN ENST00000298854 human ensembl 74_37 -1 known missense c.773 p.S258N 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic - no_errors RAPSN HGNC ENSG00000165917 18 0 0 11 3 21.4286 OR51F1 0 genome.wustl.edu 37 11 4790243 4790243 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 4790243 4790243 C T SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.926 p.R309H 0.005 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 76 0 0 94 23 19.6581 OR52H1 0 genome.wustl.edu 37 11 5565982 5565982 + Missense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 5565982 5565982 T A SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known missense c.772 p.M258L 0.986 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 OR52H1 HGNC ENSG00000181616 74 0 0 79 23 22.549 OSBP 0 genome.wustl.edu 37 11 59344413 59344413 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 59344413 59344413 G A SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.2146 p.R716W 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 183 0 0 268 63 19.0332 MRPL17 0 genome.wustl.edu 37 11 6703464 6703464 + Missense_Mutation SNP C C G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 6703464 6703464 C G SNP MRPL17 ENST00000288937 human ensembl 74_37 -1 known missense c.413 p.R138T 0.582 NULL pfam_Ribosomal_L17,superfamily_Ribosomal_L17,tigrfam_Ribosomal_L17 - no_errors MRPL17 HGNC ENSG00000158042 111 0 0 119 20 14.3885 RPS3 0 genome.wustl.edu 37 11 75115769 75115769 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 75115769 75115769 A G SNP RPS3 ENST00000527446 human ensembl 74_37 +1 known missense c.592 p.I198V 1.000 tigrfam_Ribosomal_S3_euk/arc pfam_Ribosomal_S3_C,pfam_KH_dom_type_2,superfamily_Ribosomal_S3_C,superfamily_KH_prok-type,pfscan_KH_dom_type_2,tigrfam_Ribosomal_S3_euk/arc - no_errors RPS3 HGNC ENSG00000149273 83 0 0 123 32 20.6452 CLEC12A 0 genome.wustl.edu 37 12 10133333 10133333 + Splice_Site SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 12 10133333 10133333 G A SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known splice_site c.561+1 e5+1 0.948 - - - no_errors CLEC12A HGNC ENSG00000172322 50 0 0 75 15 16.6667 APPL2 0 genome.wustl.edu 37 12 105597491 105597491 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 12 105597491 105597491 T C SNP APPL2 ENST00000551662 human ensembl 74_37 -1 known missense c.712 p.M238V 1.000 NULL pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 269 0 0 363 60 14.1844 ALG10B 0 genome.wustl.edu 37 12 38714279 38714279 + Missense_Mutation SNP A A T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 12 38714279 38714279 A T SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known missense c.686 p.E229V 0.005 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 122 0 0 202 40 16.5289 SCN8A 0 genome.wustl.edu 37 12 52115568 52115568 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 12 52115568 52115568 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.1874 p.R625H 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 81 0 0 29 14 32.5581 WNK1 0 genome.wustl.edu 37 12 990059 990059 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 12 990059 990059 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.4499 p.N1500S 0.967 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 153 0 0 176 50 22.1239 RASA3 0 genome.wustl.edu 37 13 114795308 114795308 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 13 114795308 114795308 A G SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.428 p.V143A 1.000 pfscan_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 18 0 0 15 3 16.6667 FRY 0 genome.wustl.edu 37 13 32811574 32811574 + Nonsense_Mutation SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 13 32811574 32811574 G T SNP FRY ENST00000380250 human ensembl 74_37 +1 known nonsense c.5869 p.G1957* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 90 0 0 79 6 7.05882 KBTBD6 0 genome.wustl.edu 37 13 41706551 41706551 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 13 41706551 41706551 A G SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known missense c.97 p.F33L 0.995 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 293 0 0 301 63 17.3077 MTA1 0 genome.wustl.edu 37 14 105931113 105931113 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 14 105931113 105931113 C T SNP MTA1 ENST00000331320 human ensembl 74_37 +1 known missense c.1447 p.R483W 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 95 0 0 50 16 24.2424 SYNE2 0 genome.wustl.edu 37 14 64484436 64484436 + Missense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 14 64484436 64484436 T A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.5011 p.L1671I 0.006 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 79 0 0 150 28 15.7303 DNM1P46 0 genome.wustl.edu 37 15 100332712 100332712 + RNA SNP T T G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 15 100332712 100332712 T G SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors DNM1P46 HGNC ENSG00000182397 123 1 0.806452 75 29 27.8846 NPAP1 0 genome.wustl.edu 37 15 24922918 24922918 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 15 24922918 24922918 T C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1904 p.F635S 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 132 0 0 161 32 16.5803 LCMT2 0 genome.wustl.edu 37 15 43621365 43621365 + Silent SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 15 43621365 43621365 A G SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known silent c.1323 p.S441 0.994 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 95 0 0 151 39 20.5263 ARID3B 0 genome.wustl.edu 37 15 74882324 74882324 + Silent SNP C C G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 15 74882324 74882324 C G SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known silent c.861 p.A287 0.994 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 30 0 0 35 8 18.6047 CSPG4 0 genome.wustl.edu 37 15 75980584 75980584 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 15 75980584 75980584 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.2822 p.R941H 0.984 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 173 0 0 210 36 14.6341 CHD2 0 genome.wustl.edu 37 15 93524598 93524598 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 15 93524598 93524598 A G SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.2977 p.M993V 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 27 0 0 35 5 12.5 PKD1 0 genome.wustl.edu 37 16 2155575 2155575 + RNA SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 2155575 2155575 C T SNP PKD1 ENST00000564865 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PKD1 HGNC ENSG00000008710 81 0 0 26 11 29.7297 ENSG00000259966 0 genome.wustl.edu 37 16 32617216 32617216 + RNA SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 32617216 32617216 G A SNP ENSG00000259966 ENST00000566952 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 8 0 0 5 4 44.4444 ABCC12 0 genome.wustl.edu 37 16 48167651 48167651 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 48167651 48167651 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.1075 p.V359M 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 66 0 0 106 14 11.6667 ABCC11 0 genome.wustl.edu 37 16 48226539 48226539 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 48226539 48226539 G A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known silent c.2598 p.Y866 0.007 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 96 0 0 134 36 21.1765 RLTPR 0 genome.wustl.edu 37 16 67690153 67690153 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 67690153 67690153 G A SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known silent c.3765 p.T1255 0.393 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 128 1 0.775194 201 30 12.987 SLC12A4 0 genome.wustl.edu 37 16 67980104 67980104 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 67980104 67980104 C A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.2583 p.M861I 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 146 0 0 125 40 24.2424 CIRH1A 0 genome.wustl.edu 37 16 69201031 69201031 + Silent SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 69201031 69201031 A G SNP CIRH1A ENST00000314423 human ensembl 74_37 +1 known silent c.1887 p.E629 0.928 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 80 0 0 122 21 14.6853 NPIPB15 0 genome.wustl.edu 37 16 74425380 74425380 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 74425380 74425380 G A SNP NPIPB15 ENST00000429990 human ensembl 74_37 +1 known missense c.734 p.R245H 0.001 NULL NULL - no_errors NPIPB15 HGNC ENSG00000196436 64 0 0 61 6 8.95522 HS3ST3B1 0 genome.wustl.edu 37 17 14248833 14248833 + Missense_Mutation SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 14248833 14248833 G T SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known missense c.1043 p.C348F 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 90 0 0 52 9 14.7541 ALDH3A2 0 genome.wustl.edu 37 17 19559856 19559856 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 19559856 19559856 G A SNP ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known missense c.649 p.D217N 0.999 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 25 0 0 32 5 13.5135 KCNJ12 0 genome.wustl.edu 37 17 21318895 21318895 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 21318895 21318895 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.241 p.R81W 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 118 0 0 111 6 5.12821 WFIKKN2 0 genome.wustl.edu 37 17 48917272 48917272 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 48917272 48917272 C T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.623 p.A208V 0.004 NULL pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 108 0 0 94 20 17.5439 SRSF1 0 genome.wustl.edu 37 17 56084463 56084463 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 56084463 56084463 C T SNP SRSF1 ENST00000258962 human ensembl 74_37 -1 known silent c.36 p.G12 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 99 0 0 90 21 18.9189 OR4D2 0 genome.wustl.edu 37 17 56247498 56247498 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 56247498 56247498 C T SNP OR4D2 ENST00000545221 human ensembl 74_37 +1 known missense c.482 p.A161V 0.935 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 OR4D2 HGNC ENSG00000255713 160 0 0 185 46 19.9134 EPX 0 genome.wustl.edu 37 17 56271430 56271430 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 56271430 56271430 C T SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.571 p.R191C 0.018 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 60 0 0 46 11 19.2982 ASGR2 0 genome.wustl.edu 37 17 7005041 7005041 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 7005041 7005041 C A SNP ASGR2 ENST00000355035 human ensembl 74_37 -1 known missense c.789 p.Q263H 0.031 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR2 HGNC ENSG00000161944 56 0 0 50 30 37.5 PPAN-P2RY11 0 genome.wustl.edu 37 19 10225259 10225259 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 10225259 10225259 G A SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known missense c.2230 p.A744T 0.132 NULL pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 131 0 0 80 20 20 CYP4F3 0 genome.wustl.edu 37 19 15763705 15763705 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 15763705 15763705 G A SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.1058 p.R353H 0.646 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 103 0 0 138 31 18.3432 PGPEP1 0 genome.wustl.edu 37 19 18468415 18468415 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 18468415 18468415 G A SNP PGPEP1 ENST00000269919 human ensembl 74_37 +1 known missense c.427 p.D143N 1.000 pfam_Peptidase_C15,superfamily_Peptidase_C15-like,pirsf_Peptidase_C15,prints_Peptidase_C15 pfam_Peptidase_C15,superfamily_Peptidase_C15-like,pirsf_Peptidase_C15,prints_Peptidase_C15 - no_errors PGPEP1 HGNC ENSG00000130517 29 0 0 15 5 25 SCAMP4 0 genome.wustl.edu 37 19 1918891 1918891 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 1918891 1918891 C T SNP SCAMP4 ENST00000316097 human ensembl 74_37 +1 known silent c.297 p.A99 0.782 pfam_SCAMP pfam_SCAMP - no_errors SCAMP4 HGNC ENSG00000227500 17 0 0 26 6 18.75 ZNF208 0 genome.wustl.edu 37 19 22155297 22155297 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 22155297 22155297 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2539 p.I847V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 24 0 0 44 7 13.7255 FCGBP 0 genome.wustl.edu 37 19 40433845 40433845 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 40433845 40433845 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.424 p.E142K 0.581 NULL 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 102 0 0 59 19 24.359 PLIN4 0 genome.wustl.edu 37 19 4504699 4504699 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 4504699 4504699 G A SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel silent c.3846 p.A1282 0.000 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 41 0 0 20 6 23.0769 DPRX 0 genome.wustl.edu 37 19 54137863 54137863 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 54137863 54137863 A G SNP DPRX ENST00000376650 human ensembl 74_37 +1 known missense c.107 p.N36S 0.003 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DPRX HGNC ENSG00000204595 116 0 0 170 40 19.0476 ZNF835 0 genome.wustl.edu 37 19 57175194 57175194 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 57175194 57175194 C A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1373 p.R458L 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 250 0 0 163 80 32.9218 MUC16 0 genome.wustl.edu 37 19 9059719 9059719 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 9059719 9059719 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.27727 p.A9243S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 86 0 0 114 28 19.7183 ZNF426 0 genome.wustl.edu 37 19 9639881 9639881 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 19 9639881 9639881 G A SNP ZNF426 ENST00000253115 human ensembl 74_37 -1 known silent c.840 p.Y280 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 120 0 0 155 37 19.2708 FBLN7 0 genome.wustl.edu 37 2 112940381 112940381 + Silent SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 112940381 112940381 T C SNP FBLN7 ENST00000331203 human ensembl 74_37 +1 known silent c.684 p.C228 0.161 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors FBLN7 HGNC ENSG00000144152 152 0 0 104 18 14.7541 ROCK2 0 genome.wustl.edu 37 2 11427816 11427816 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 11427816 11427816 C T SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.188 p.R63K 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 17 0 0 33 12 26.6667 NR4A2 0 genome.wustl.edu 37 2 157184976 157184976 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 157184976 157184976 G A SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.967 p.R323W 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 95 0 0 119 38 24.2038 TTN 0 genome.wustl.edu 37 2 179438575 179438575 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 179438575 179438575 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.64580 p.R21527M 0.027 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 64 0 0 87 20 18.6916 FAM171B 0 genome.wustl.edu 37 2 187611822 187611822 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 187611822 187611822 C T SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.569 p.A190V 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 74 0 0 123 17 12.1429 STAT1 0 genome.wustl.edu 37 2 191843630 191843630 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 191843630 191843630 C T SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.1825 p.E609K 1.000 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 52 0 0 52 9 14.7541 CARF 0 genome.wustl.edu 37 2 203846292 203846292 + Nonsense_Mutation SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 203846292 203846292 G T SNP CARF ENST00000320443 human ensembl 74_37 +1 known nonsense c.1573 p.E525* 1.000 NULL NULL - no_errors CARF HGNC ENSG00000138380 52 0 0 57 15 20.8333 SLC11A1 0 genome.wustl.edu 37 2 219251382 219251382 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 219251382 219251382 A G SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known missense c.418 p.T140A 1.000 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 44 0 0 54 6 10 ZNF514 0 genome.wustl.edu 37 2 95815288 95815288 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 2 95815288 95815288 C T SNP ZNF514 ENST00000295208 human ensembl 74_37 -1 known silent c.942 p.K314 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF514 HGNC ENSG00000144026 79 0 0 95 12 11.215 U2AF1 0 genome.wustl.edu 37 21 44514611 44514611 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 21 44514611 44514611 C T SNP U2AF1 ENST00000291552 human ensembl 74_37 -1 known missense c.545 p.R182Q 1.000 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 66 0 0 104 25 19.3798 GAL3ST1 0 genome.wustl.edu 37 22 30951295 30951295 + Missense_Mutation SNP T T G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 22 30951295 30951295 T G SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.917 p.H306P 0.539 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 86 0 0 30 15 33.3333 ABHD10 0 genome.wustl.edu 37 3 111700750 111700750 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 3 111700750 111700750 A G SNP ABHD10 ENST00000273359 human ensembl 74_37 +1 known missense c.262 p.M88V 1.000 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ENSG00000144827 61 0 0 79 24 23.301 PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1035 p.N345K 1.000 superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 58 0 0 105 20 16 PIK3CA 0 genome.wustl.edu 37 3 178922324 178922324 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 3 178922324 178922324 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1093 p.E365K 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 80 0 0 106 16 13.1148 LAMB2 0 genome.wustl.edu 37 3 49160321 49160321 + Silent SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 3 49160321 49160321 C A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.4389 p.L1463 0.997 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 144 0 0 92 15 14.0187 SLC25A31 0 genome.wustl.edu 37 4 128651788 128651788 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 4 128651788 128651788 G A SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.88 p.A30T 0.949 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 172 0 0 121 14 10.3704 RAPGEF2 0 genome.wustl.edu 37 4 160259464 160259464 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 4 160259464 160259464 G A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.1654 p.D552N 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 54 0 0 51 5 8.92857 MFSD10 0 genome.wustl.edu 37 4 2934131 2934131 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 4 2934131 2934131 C T SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.640 p.D214N 0.959 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 64 0 0 54 14 20.5882 HERC6 0 genome.wustl.edu 37 4 89317276 89317276 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 4 89317276 89317276 C T SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.869 p.S290L 0.999 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 51 0 0 90 18 16.6667 SLCO6A1 0 genome.wustl.edu 37 5 101774450 101774450 + Missense_Mutation SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 5 101774450 101774450 G T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.1147 p.P383T 0.276 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 44 0 0 55 10 15.3846 DNAJC18 0 genome.wustl.edu 37 5 138758403 138758403 + Missense_Mutation SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 5 138758403 138758403 T C SNP DNAJC18 ENST00000302060 human ensembl 74_37 -1 known missense c.773 p.Y258C 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC18 HGNC ENSG00000170464 87 0 0 101 22 17.8862 PCDHA13 0 genome.wustl.edu 37 5 140263899 140263899 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 5 140263899 140263899 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.2046 p.A682 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 209 0 0 113 34 23.1293 PCDHGB6 0 genome.wustl.edu 37 5 140789875 140789875 + Silent SNP C C G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 5 140789875 140789875 C G SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.2106 p.L702 0.987 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 188 0 0 204 51 20 NR3C1 0 genome.wustl.edu 37 5 142693630 142693630 + Nonsense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 5 142693630 142693630 C A SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known nonsense c.1288 p.G430* 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 72 0 0 93 35 27.3438 ANKRD32 0 genome.wustl.edu 37 5 94027907 94027907 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 5 94027907 94027907 G A SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known missense c.2641 p.D881N 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_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 97 0 0 122 24 16.4384 FAM184A 0 genome.wustl.edu 37 6 119324198 119324198 + Missense_Mutation SNP G G C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 6 119324198 119324198 G C SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.1954 p.L652V 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 47 0 0 65 19 22.619 KIAA1244 0 genome.wustl.edu 37 6 138640958 138640958 + Silent SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 6 138640958 138640958 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.4593 p.H1531 0.987 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 117 0 0 107 34 24.1135 MLLT4 0 genome.wustl.edu 37 6 168323587 168323587 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 6 168323587 168323587 A G SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.2939 p.Y980C 0.999 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 61 0 0 117 26 18.1818 DPY19L2P2 0 genome.wustl.edu 37 7 102912287 102912287 + RNA SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 7 102912287 102912287 A G SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 43 0 0 90 5 5.26316 CTTNBP2 0 genome.wustl.edu 37 7 117365228 117365228 + Missense_Mutation SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 7 117365228 117365228 G A SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.4139 p.P1380L 0.042 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 227 0 0 308 78 20.2073 KCND2 0 genome.wustl.edu 37 7 120382625 120382625 + Missense_Mutation SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 7 120382625 120382625 A G SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1436 p.H479R 1.000 pfam_K_chnl_volt-dep_Kv4_C,prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 110 0 0 182 36 16.5138 USP42 0 genome.wustl.edu 37 7 6150918 6150918 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 7 6150918 6150918 C T SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.154 p.L52F 0.843 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 19 0 0 16 3 15.7895 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 15 0 0 29 3 9.375 CSMD1 0 genome.wustl.edu 37 8 3087702 3087702 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 8 3087702 3087702 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4208 p.R1403H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 32 0 0 42 12 22.2222 MIR124-2 0 genome.wustl.edu 37 8 65291708 65291708 + RNA SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 8 65291708 65291708 C A SNP MIR124-2 ENST00000385081 human ensembl 74_37 +1 known rna NULL NULL 0.458 - - - no_errors MIR124-2 HGNC ENSG00000207816 38 0 0 21 5 19.2308 PREX2 0 genome.wustl.edu 37 8 68965375 68965375 + Silent SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 8 68965375 68965375 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.987 p.K329 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 64 0 0 79 21 21 ZFHX4 0 genome.wustl.edu 37 8 77618345 77618345 + Nonsense_Mutation SNP T T A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 8 77618345 77618345 T A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.2022 p.C674* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 47 0 0 60 16 21.0526 ZFHX4 0 genome.wustl.edu 37 8 77762599 77762599 + Splice_Site SNP G G A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 8 77762599 77762599 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known splice_site c.3964+1 e8+1 1.000 - - - no_errors ZFHX4 HGNC ENSG00000091656 22 0 0 19 5 20.8333 C9orf172 0 genome.wustl.edu 37 9 139739581 139739581 + Missense_Mutation SNP C C A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 9 139739581 139739581 C A SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known missense c.715 p.P239T 1.000 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 20 0 0 28 6 17.6471 NFX1 0 genome.wustl.edu 37 9 33307203 33307203 + Missense_Mutation SNP A A C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 9 33307203 33307203 A C SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known missense c.1282 p.N428H 1.000 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 97 0 0 130 27 17.1975 KIAA1045 0 genome.wustl.edu 37 9 34971401 34971401 + Missense_Mutation SNP C C T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 9 34971401 34971401 C T SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known missense c.106 p.R36C 0.949 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 124 0 0 86 24 21.8182 JAK2 0 genome.wustl.edu 37 9 5078361 5078361 + Missense_Mutation SNP G G C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 9 5078361 5078361 G C SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.2048 p.R683T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 119 0 0 260 462 63.9889 SMC5 0 genome.wustl.edu 37 9 72959213 72959213 + RNA SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 9 72959213 72959213 A G SNP SMC5 ENST00000475540 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SMC5 HGNC ENSG00000198887 28 0 0 35 8 18.6047 MT-TL1 0 genome.wustl.edu 37 MT 3291 3291 + RNA SNP T T C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 MT 3291 3291 T C SNP MT-TL1 ENST00000386347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TL1 HGNC ENSG00000209082 232 1 0.429185 0 2 100 BCOR 0 genome.wustl.edu 37 X 39921997 39921997 + Splice_Site SNP A A G TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 X 39921997 39921997 A G SNP BCOR ENST00000378444 human ensembl 74_37 -1 known splice_site c.4173+2 e8+2 1.000 - - - no_errors BCOR HGNC ENSG00000183337 20 0 0 8 8 50 PAMR1 0 genome.wustl.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 11 35513669 35513670 - C INS PAMR1 ENST00000278360 human ensembl 74_37 -1 known frame_shift_ins c.303_302 p.T102fs 0.858:0.999 smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 253 0 0 486 83 14.587 ZNF280D 0 genome.wustl.edu 37 15 56924284 56924285 + Frame_Shift_Ins INS - - T TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 15 56924284 56924285 - T INS ZNF280D ENST00000267807 human ensembl 74_37 -1 known frame_shift_ins c.2352_2351 p.N784fs 0.098:0.121 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 39 0 0 52 14 21.2121 KIAA0430 0 genome.wustl.edu 37 16 15733043 15733050 + Frame_Shift_Del DEL TCCACGTG TCCACGTG - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 TCCACGTG TCCACGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 15733043 15733050 TCCACGTG - DEL KIAA0430 ENST00000396368 human ensembl 74_37 -1 known frame_shift_del c.48_41 p.T14fs 1.000:1.000:0.952:0.184:0.061:0.052:0.042:0.977 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 226 0 0 309 26 7.76119 PLK1 0 genome.wustl.edu 37 16 23700944 23700944 + Frame_Shift_Del DEL A A - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 23700944 23700944 A - DEL PLK1 ENST00000300093 human ensembl 74_37 +1 known frame_shift_del c.1555 p.S519fs 1.000 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 66 0 0 39 9 18.75 VPS4A 0 genome.wustl.edu 37 16 69356604 69356607 + Splice_Site DEL GTAA GTAA - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 16 69356604 69356607 GTAA - DEL VPS4A ENST00000254950 human ensembl 74_37 +1 known splice_site_del c.1212+1_1212+1 e10+1 1.000:1.000:1.000:1.000 - - - no_errors VPS4A HGNC ENSG00000132612 79 0 0 151 20 11.6959 BPTF 0 genome.wustl.edu 37 17 65822234 65822236 + In_Frame_Del DEL GAG GAG - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 17 65822234 65822236 GAG - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known in_frame_del c.394_396 p.E135in_frame_del 1.000:1.000:0.941 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 25 0 0 28 3 9.67742 CCDC36 0 genome.wustl.edu 37 3 49249270 49249271 + Splice_Site INS - - TAAGT TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 3 49249270 49249271 - TAAGT INS CCDC36 ENST00000296449 human ensembl 74_37 +1 known splice_site_ins c.56+1_56+1 e1+1 1.000:1.000 - - - no_errors CCDC36 HGNC ENSG00000173421 82 0 0 149 13 8.02469 PDE5A 0 genome.wustl.edu 37 4 120440290 120440291 + Frame_Shift_Ins INS - - TG TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 4 120440290 120440291 - TG INS PDE5A ENST00000354960 human ensembl 74_37 -1 known frame_shift_ins c.1910_1909 p.K637fs 0.999:0.997 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 55 0 0 68 15 18.0723 PTK2 0 genome.wustl.edu 37 8 141754889 141754889 + RNA DEL A A - TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 8 141754889 141754889 A - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors PTK2 HGNC ENSG00000169398 19 0 0 25 8 24.2424 ENSG00000253334 0 genome.wustl.edu 37 8 82727640 82727641 + RNA INS - - A TCGA-HU-8608-01A-11D-2394-08 TCGA-HU-8608-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5 0af3c4b6-0d9f-4630-b919-94bf0ec56529 8 82727640 82727641 - A INS ENSG00000253334 ENST00000524337 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.496 - - - no_errors RP13-923O23.6 Clone_based_vega_gene ENSG00000253334 22 0 0 42 6 12.5