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 ABCG8 64241 genome.wustl.edu 37 2 44073355 44073355 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 44073355 44073355 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known missense c.227 p.T76I 0.000 pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ACACA 31 genome.wustl.edu 37 17 35486321 35486321 + Silent SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 35486321 35486321 G T SNP ACACA ENST00000353139 human ensembl 70_37 -1 known silent c.5914 p.R1972 0.997 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ADAMTS2 9509 genome.wustl.edu 37 5 178541064 178541064 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 178541064 178541064 G T SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known missense c.3440 p.S1147Y 0.027 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ADCY4 196883 genome.wustl.edu 37 14 24787690 24787690 + Nonsense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 24787690 24787690 G A SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known nonsense c.3166 p.Q1056* 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ADCY9 115 genome.wustl.edu 37 16 4165289 4165289 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 4165289 4165289 G C SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.155 p.S52C 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ADSL 158 genome.wustl.edu 37 22 40759015 40759015 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 22 40759015 40759015 C T SNP ADSL ENST00000454266 human ensembl 70_37 +1 known silent c.1083 p.T361 0.407 superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase - no_errors ADSL HGNC AFF3 3899 genome.wustl.edu 37 2 100623769 100623769 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 100623769 100623769 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.403 p.E135K 0.953 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105418845 105418845 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 105418845 105418845 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.2943 p.E981 0.065 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ALCAM 214 genome.wustl.edu 37 3 105266097 105266097 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 105266097 105266097 G C SNP ALCAM ENST00000306107 human ensembl 70_37 +1 known missense c.1209 p.K403N 1.000 smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors ALCAM HGNC APBB2 323 genome.wustl.edu 37 4 41016329 41016329 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 41016329 41016329 G T SNP APBB2 ENST00000295974 human ensembl 70_37 -1 known missense c.106 p.P36T 1.000 NULL pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB2 HGNC APC 324 genome.wustl.edu 37 5 112174700 112174700 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 112174700 112174700 G C SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.3409 p.D1137H 1.000 pfam_APC_15aa_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC AR 367 genome.wustl.edu 37 X 66931424 66931424 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 X 66931424 66931424 G C SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.2066 p.G689A 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ARID2 196528 genome.wustl.edu 37 12 46211629 46211629 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 46211629 46211629 A G SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.595 p.I199V 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ARID4A 5926 genome.wustl.edu 37 14 58831088 58831088 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 58831088 58831088 G C SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.2281 p.E761Q 0.998 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ATAD5 79915 genome.wustl.edu 37 17 29171008 29171008 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 29171008 29171008 G C SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known missense c.2319 p.L773F 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ATXN1 6310 genome.wustl.edu 37 6 16326687 16326687 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 16326687 16326687 C T SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.1855 p.E619K 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC BEST3 144453 genome.wustl.edu 37 12 70070807 70070807 + Silent SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 70070807 70070807 C G SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known silent c.756 p.L252 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC BIRC8 112401 genome.wustl.edu 37 19 53793351 53793351 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 53793351 53793351 G T SNP BIRC8 ENST00000426466 human ensembl 70_37 -1 known missense c.277 p.Q93K 0.002 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC BPTF 2186 genome.wustl.edu 37 17 65941593 65941593 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 65941593 65941593 C T SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.7147 p.P2383S 0.998 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 BTBD9 114781 genome.wustl.edu 37 6 38562104 38562104 + Splice_Site SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 38562104 38562104 C T SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known splice_site c.186-1 e2-1 1.000 - - - no_errors BTBD9 HGNC C12orf68 387856 genome.wustl.edu 37 12 48578079 48578079 + Silent SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 48578079 48578079 G C SNP C12orf68 ENST00000316554 human ensembl 70_37 +1 known silent c.174 p.V58 1.000 NULL NULL - no_errors C12orf68 HGNC CABP1 9478 genome.wustl.edu 37 12 121098880 121098880 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 121098880 121098880 A G SNP CABP1 ENST00000316803 human ensembl 70_37 +1 known missense c.946 p.T316A 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP1 HGNC CABS1 85438 genome.wustl.edu 37 4 71201722 71201722 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 71201722 71201722 C T SNP CABS1 ENST00000273936 human ensembl 70_37 +1 known silent c.966 p.D322 0.954 NULL NULL - no_errors CABS1 HGNC CAPNS1 826 genome.wustl.edu 37 19 36640737 36640737 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 36640737 36640737 C T SNP CAPNS1 ENST00000588780 human ensembl 70_37 +1 known missense c.833 p.S278F 1.000 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors CAPNS1 HGNC CD101 9398 genome.wustl.edu 37 1 117556245 117556246 + Frame_Shift_Del DEL AA AA - TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 117556245 117556246 AA - DEL CD101 ENST00000256652 human ensembl 70_37 +1 known frame_shift_del c.1059_1060 p.K354fs 0.849:0.991 smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD101 HGNC CDH13 1012 genome.wustl.edu 37 16 83636197 83636197 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 83636197 83636197 G C SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known missense c.1099 p.E367Q 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC CDHR1 92211 genome.wustl.edu 37 10 85965626 85965626 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 85965626 85965626 C T SNP CDHR1 ENST00000372117 human ensembl 70_37 +1 known silent c.906 p.I302 0.760 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC CLTCL1 8218 genome.wustl.edu 37 22 19183791 19183791 + Missense_Mutation SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 22 19183791 19183791 C A SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.4177 p.D1393Y 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC COL24A1 255631 genome.wustl.edu 37 1 86342821 86342821 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 86342821 86342821 C G SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.3014 p.G1005A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC COL6A3 1293 genome.wustl.edu 37 2 238267881 238267881 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 238267881 238267881 C G SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.6322 p.E2108Q 1.000 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC COL6A3 1293 genome.wustl.edu 37 2 238274445 238274445 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 238274445 238274445 C G SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.5734 p.E1912Q 0.997 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC CROCC 9696 genome.wustl.edu 37 1 17257074 17257074 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 17257074 17257074 G C SNP CROCC ENST00000375541 human ensembl 70_37 +1 known missense c.834 p.W278C 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC DDHD1 80821 genome.wustl.edu 37 14 53558534 53558534 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 53558534 53558534 C G SNP DDHD1 ENST00000323669 human ensembl 70_37 -1 known missense c.1258 p.D420H 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC DDX20 11218 genome.wustl.edu 37 1 112305496 112305496 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 112305496 112305496 G A SNP DDX20 ENST00000475700 human ensembl 70_37 +1 putative missense c.3 p.M1I 0.000 NULL NULL - no_errors DDX20 HGNC DENND2C 163259 genome.wustl.edu 37 1 115167965 115167965 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 115167965 115167965 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.641 p.R214H 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000170858 0 genome.wustl.edu 37 19 55221457 55221457 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 55221457 55221457 G A SNP ENSG00000170858 ENST00000413439 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC006293.3 Clone_based_vega_gene ENSG00000211459 0 genome.wustl.edu 37 MT 877 877 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 MT 877 877 G A SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000227492 0 genome.wustl.edu 37 10 101993189 101993189 + RNA SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 101993189 101993189 C A SNP ENSG00000227492 ENST00000444359 human ensembl 70_37 +1 known rna NULL NULL 0.134 - - - no_errors RP11-316M21.6 Clone_based_vega_gene ENSG00000238726 0 genome.wustl.edu 37 4 9025143 9025143 + RNA SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 9025143 9025143 C G SNP ENSG00000238726 ENST00000408553 human ensembl 70_37 -1 novel rna NULL NULL 0.162 - - - no_errors AC073648.1 Clone_based_ensembl_gene ENSG00000256349 0 genome.wustl.edu 37 11 66287093 66287093 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 66287093 66287093 C T SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known silent c.708 p.V236 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename EPHA8 2046 genome.wustl.edu 37 1 22912997 22912997 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 22912997 22912997 C T SNP EPHA8 ENST00000166244 human ensembl 70_37 +1 known missense c.848 p.S283L 1.000 superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_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,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA8 HGNC EQTN 54586 genome.wustl.edu 37 9 27296981 27296981 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 27296981 27296981 C T SNP EQTN ENST00000380032 human ensembl 70_37 -1 known missense c.73 p.E25K 0.058 NULL NULL - no_errors EQTN HGNC F8 2157 genome.wustl.edu 37 X 154066005 154066005 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 X 154066005 154066005 G T SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.6923 p.S2308Y 0.980 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC FAM209B 388799 genome.wustl.edu 37 20 55111233 55111233 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 20 55111233 55111233 G C SNP FAM209B ENST00000371325 human ensembl 70_37 +1 known missense c.255 p.Q85H 0.259 NULL NULL - no_errors FAM209B HGNC FAT4 79633 genome.wustl.edu 37 4 126371183 126371183 + Missense_Mutation SNP A A T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 126371183 126371183 A T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.9012 p.R3004S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FMN2 56776 genome.wustl.edu 37 1 240256018 240256018 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 240256018 240256018 C G SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.609 p.I203M 0.864 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC FNDC3B 64778 genome.wustl.edu 37 3 172058910 172058910 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 172058910 172058910 G A SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known silent c.1860 p.Q620 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC FRAS1 80144 genome.wustl.edu 37 4 79440596 79440596 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 79440596 79440596 G C SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.10501 p.E3501Q 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FYB 2533 genome.wustl.edu 37 5 39126186 39126186 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 39126186 39126186 C G SNP FYB ENST00000540520 human ensembl 70_37 -1 known missense c.1989 p.L663F 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC GABRB3 2562 genome.wustl.edu 37 15 26866676 26866676 + Silent SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 15 26866676 26866676 A G SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known silent c.246 p.Y82 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC GALNT10 55568 genome.wustl.edu 37 5 153755919 153755919 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 153755919 153755919 G A SNP GALNT10 ENST00000297107 human ensembl 70_37 +1 known silent c.651 p.L217 0.988 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC GCDH 2639 genome.wustl.edu 37 19 13008605 13008605 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 13008605 13008605 G A SNP GCDH ENST00000222214 human ensembl 70_37 +1 known missense c.1171 p.G391R 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC GCNT3 9245 genome.wustl.edu 37 15 59911513 59911513 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 15 59911513 59911513 C G SNP GCNT3 ENST00000396065 human ensembl 70_37 +1 known missense c.1076 p.S359C 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC GLDC 2731 genome.wustl.edu 37 9 6534789 6534789 + Splice_Site SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 6534789 6534789 C G SNP GLDC ENST00000321612 human ensembl 70_37 -1 known splice_site c.2839-1 e24-1 1.000 - - - no_errors GLDC HGNC GLG1 2734 genome.wustl.edu 37 16 74516967 74516967 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 74516967 74516967 C G SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known missense c.1627 p.E543Q 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC GLG1 2734 genome.wustl.edu 37 16 74517022 74517022 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 74517022 74517022 C T SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known missense c.1572 p.M524I 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC GPR19 2842 genome.wustl.edu 37 12 12815011 12815011 + Silent SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 12815011 12815011 G C SNP GPR19 ENST00000332427 human ensembl 70_37 -1 known silent c.372 p.L124 0.945 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_GPCR_Rhodpsn - no_errors GPR19 HGNC GRIA1 2890 genome.wustl.edu 37 5 153056683 153056683 + Missense_Mutation SNP T T C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 153056683 153056683 T C SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known missense c.1021 p.W341R 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC H1F0 3005 genome.wustl.edu 37 22 38201771 38201771 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 22 38201771 38201771 C T SNP H1F0 ENST00000340857 human ensembl 70_37 +1 known missense c.220 p.R74C 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors H1F0 HGNC MROH2B 133558 genome.wustl.edu 37 5 41039655 41039655 + Silent SNP T T C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 41039655 41039655 T C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known silent c.1956 p.G652 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC HERC4 26091 genome.wustl.edu 37 10 69832930 69832930 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 69832930 69832930 G A SNP HERC4 ENST00000395185 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors HERC4 HGNC HOXA3 3200 genome.wustl.edu 37 7 27147688 27147688 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 27147688 27147688 G A SNP HOXA3 ENST00000317201 human ensembl 70_37 -1 known missense c.1178 p.S393L 0.905 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA3 HGNC HOXD10 3236 genome.wustl.edu 37 2 176982180 176982180 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 176982180 176982180 G T SNP HOXD10 ENST00000249501 human ensembl 70_37 +1 known missense c.619 p.G207C 0.889 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD10 HGNC IGSF9 57549 genome.wustl.edu 37 1 159898366 159898366 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 159898366 159898366 C T SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known missense c.2812 p.D938N 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC IMMP1L 196294 genome.wustl.edu 37 11 31477934 31477934 + Splice_Site SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 31477934 31477934 C G SNP IMMP1L ENST00000278200 human ensembl 70_37 -1 known splice_site c.195-1 e3-1 1.000 - - - no_errors IMMP1L HGNC INTS4 92105 genome.wustl.edu 37 11 77632453 77632453 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 77632453 77632453 G A SNP INTS4 ENST00000534064 human ensembl 70_37 -1 known missense c.1697 p.S566L 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC JAKMIP2 9832 genome.wustl.edu 37 5 147015790 147015790 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 147015790 147015790 C G SNP JAKMIP2 ENST00000265272 human ensembl 70_37 -1 known missense c.1672 p.E558Q 1.000 NULL NULL - no_errors JAKMIP2 HGNC KANK1 23189 genome.wustl.edu 37 9 711531 711531 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 711531 711531 G A SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known silent c.765 p.V255 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC KCNIP1 30820 genome.wustl.edu 37 5 169780916 169780916 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 169780916 169780916 C G SNP KCNIP1 ENST00000377360 human ensembl 70_37 +1 known missense c.36 p.F12L 0.824 NULL pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP1 HGNC KCNJ8 3764 genome.wustl.edu 37 12 21919223 21919223 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 21919223 21919223 C G SNP KCNJ8 ENST00000240662 human ensembl 70_37 -1 known missense c.709 p.E237Q 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC KCNQ5 56479 genome.wustl.edu 37 6 73787562 73787562 + Silent SNP T T C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 73787562 73787562 T C SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known silent c.870 p.D290 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC SPIDR 23514 genome.wustl.edu 37 8 48614331 48614331 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 8 48614331 48614331 C T SNP KIAA0146 ENST00000297423 human ensembl 70_37 +1 known missense c.1822 p.H608Y 0.019 NULL NULL - no_errors KIAA0146 HGNC KIAA1257 57501 genome.wustl.edu 37 3 128697045 128697045 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 128697045 128697045 G A SNP KIAA1257 ENST00000507225 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors KIAA1257 HGNC KRTAP1-3 81850 genome.wustl.edu 37 17 39190875 39190875 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 39190875 39190875 C G SNP KRTAP1-3 ENST00000344363 human ensembl 70_37 -1 known missense c.199 p.E67Q 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC LCMT1 51451 genome.wustl.edu 37 16 25123262 25123262 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 25123262 25123262 G T SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known missense c.58 p.D20Y 0.010 pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC LIG4 3981 genome.wustl.edu 37 13 108863389 108863389 + Missense_Mutation SNP T T G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 13 108863389 108863389 T G SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.228 p.E76D 0.998 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC LINS 55180 genome.wustl.edu 37 15 101110021 101110021 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 15 101110021 101110021 C G SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.1696 p.D566H 0.127 NULL NULL - no_errors LINS HGNC LOC728888 728888 genome.wustl.edu 37 16 29395073 29395073 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 29395073 29395073 C G SNP LOC728888 ENST00000524087 human ensembl 70_37 -1 putative missense c.1180 p.E394Q 0.002 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename LRIG3 121227 genome.wustl.edu 37 12 59284455 59284455 + Silent SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 59284455 59284455 G C SNP LRIG3 ENST00000320743 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG3 HGNC LRP5 4041 genome.wustl.edu 37 11 68181426 68181426 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 68181426 68181426 C T SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.2773 p.R925C 1.000 smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC LRRC16B 90668 genome.wustl.edu 37 14 24525915 24525915 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 24525915 24525915 G C SNP LRRC16B ENST00000342740 human ensembl 70_37 +1 known missense c.950 p.R317P 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC LTBR 4055 genome.wustl.edu 37 12 6494466 6494466 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 6494466 6494466 C T SNP LTBR ENST00000228918 human ensembl 70_37 +1 known silent c.393 p.F131 0.987 smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pirsf_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR - no_errors LTBR HGNC LZTS1 11178 genome.wustl.edu 37 8 20107234 20107234 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 8 20107234 20107234 C T SNP LZTS1 ENST00000265801 human ensembl 70_37 -1 known silent c.1790 p.*597 1.000 NULL pfam_Fez1 - no_errors LZTS1 HGNC MAGEC1 9947 genome.wustl.edu 37 X 140994453 140994453 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 X 140994453 140994453 G C SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.1263 p.L421F 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MAP1A 4130 genome.wustl.edu 37 15 43815178 43815178 + Missense_Mutation SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 15 43815178 43815178 C A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.1507 p.Q503K 1.000 NULL NULL - no_errors MAP1A HGNC MED12L 116931 genome.wustl.edu 37 3 151107867 151107867 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 151107867 151107867 T A SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.5447 p.L1816H 0.981 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC METTL2B 55798 genome.wustl.edu 37 7 128119454 128119454 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 128119454 128119454 G C SNP METTL2B ENST00000262432 human ensembl 70_37 +1 known missense c.445 p.E149Q 0.003 pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd - no_errors METTL2B HGNC MFSD8 256471 genome.wustl.edu 37 4 128886250 128886250 + Silent SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 128886250 128886250 G C SNP MFSD8 ENST00000296468 human ensembl 70_37 -1 known silent c.39 p.L13 0.007 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC MIR151A 442893 genome.wustl.edu 37 8 141742741 141742741 + RNA SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 8 141742741 141742741 G A SNP MIR151A ENST00000385057 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR151A HGNC MKI67 4288 genome.wustl.edu 37 10 129902237 129902237 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 129902237 129902237 T A SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.7867 p.T2623S 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC KMT2D 8085 genome.wustl.edu 37 12 49428024 49428024 + Silent SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 49428024 49428024 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.10566 p.Q3522 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MMP12 4321 genome.wustl.edu 37 11 102742413 102742413 + RNA SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 102742413 102742413 C A SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors MMP12 HGNC MMRN1 22915 genome.wustl.edu 37 4 90816360 90816360 + Missense_Mutation SNP A A C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 90816360 90816360 A C SNP MMRN1 ENST00000264790 human ensembl 70_37 +1 known missense c.238 p.K80Q 0.005 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC MYF6 4618 genome.wustl.edu 37 12 81101787 81101787 + Missense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 81101787 81101787 G T SNP MYF6 ENST00000228641 human ensembl 70_37 +1 known missense c.289 p.A97S 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,pfscan_HLH_dom pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF6 HGNC MYH7B 57644 genome.wustl.edu 37 20 33575936 33575936 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 20 33575936 33575936 G C SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.1584 p.E528D 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC NALCN 259232 genome.wustl.edu 37 13 101777027 101777027 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 13 101777027 101777027 G A SNP NALCN ENST00000251127 human ensembl 70_37 -1 known silent c.2124 p.R708 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC NBPF20 100288142 genome.wustl.edu 37 1 148344705 148344705 + Silent SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 148344705 148344705 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known silent c.213 p.L71 0.009 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC NOX1 27035 genome.wustl.edu 37 X 100118508 100118508 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 X 100118508 100118508 C T SNP NOX1 ENST00000372966 human ensembl 70_37 -1 known missense c.218 p.R73H 0.994 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC NTN1 9423 genome.wustl.edu 37 17 8926373 8926373 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 8926373 8926373 C T SNP NTN1 ENST00000173229 human ensembl 70_37 +1 known missense c.683 p.S228L 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC NTNG2 84628 genome.wustl.edu 37 9 135042422 135042422 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 135042422 135042422 C G SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known missense c.204 p.F68L 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC NUDC 10726 genome.wustl.edu 37 1 27271862 27271862 + RNA SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 27271862 27271862 C G SNP NUDC ENST00000484772 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NUDC HGNC NUDC 10726 genome.wustl.edu 37 1 27271871 27271871 + RNA SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 27271871 27271871 C A SNP NUDC ENST00000484772 human ensembl 70_37 +1 known rna NULL NULL 0.084 - - - no_errors NUDC HGNC NUDC 10726 genome.wustl.edu 37 1 27272631 27272631 + Nonsense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 27272631 27272631 C T SNP NUDC ENST00000321265 human ensembl 70_37 +1 known nonsense c.955 p.Q319* 1.000 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDC HGNC NUP54 53371 genome.wustl.edu 37 4 77051823 77051823 + Nonsense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 77051823 77051823 G A SNP NUP54 ENST00000264883 human ensembl 70_37 -1 known nonsense c.1042 p.Q348* 1.000 NULL NULL - no_errors NUP54 HGNC NYAP2 57624 genome.wustl.edu 37 2 226446723 226446723 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 226446723 226446723 G A SNP NYAP2 ENST00000272907 human ensembl 70_37 +1 known missense c.590 p.R197Q 0.888 NULL NULL - no_errors NYAP2 HGNC OR11H6 122748 genome.wustl.edu 37 14 20692813 20692813 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 20692813 20692813 G A SNP OR11H6 ENST00000315519 human ensembl 70_37 +1 known missense c.945 p.M315I 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11H6 HGNC OR2D2 120776 genome.wustl.edu 37 11 6912833 6912833 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 6912833 6912833 C T SNP OR2D2 ENST00000299459 human ensembl 70_37 -1 known missense c.899 p.R300K 0.968 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC OR51E1 143503 genome.wustl.edu 37 11 4674564 4674564 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 4674564 4674564 C T SNP OR51E1 ENST00000396952 human ensembl 70_37 +1 known missense c.808 p.R270C 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51E1 HGNC OR6B2 389090 genome.wustl.edu 37 2 240969469 240969469 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 240969469 240969469 G C SNP OR6B2 ENST00000402971 human ensembl 70_37 -1 known missense c.378 p.I126M 1.000 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 OR6B2 HGNC OR8H2 390151 genome.wustl.edu 37 11 55872567 55872567 + Nonsense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 55872567 55872567 G T SNP OR8H2 ENST00000313503 human ensembl 70_37 +1 known nonsense c.49 p.G17* 0.935 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC OTUD4 54726 genome.wustl.edu 37 4 146058813 146058813 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 146058813 146058813 T A SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known missense c.3114 p.R1038S 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110478922 110478922 + Missense_Mutation SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 8 110478922 110478922 C A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.8529 p.S2843R 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PLCE1 51196 genome.wustl.edu 37 10 95849033 95849033 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 95849033 95849033 C T SNP PLCE1 ENST00000371375 human ensembl 70_37 +1 known missense c.182 p.S61L 0.993 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PODXL2 50512 genome.wustl.edu 37 3 127381124 127381124 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 127381124 127381124 C G SNP PODXL2 ENST00000342480 human ensembl 70_37 +1 known missense c.1176 p.I392M 1.000 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC PPAT 5471 genome.wustl.edu 37 4 57273828 57273828 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 57273828 57273828 G C SNP PPAT ENST00000264220 human ensembl 70_37 -1 known missense c.183 p.F61L 0.992 pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC PPOX 5498 genome.wustl.edu 37 1 161139704 161139704 + Nonsense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 161139704 161139704 G T SNP PPOX ENST00000352210 human ensembl 70_37 +1 known nonsense c.877 p.E293* 0.273 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC PPP2R1A 5518 genome.wustl.edu 37 19 52723005 52723005 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 52723005 52723005 T A SNP PPP2R1A ENST00000322088 human ensembl 70_37 +1 known missense c.1190 p.I397N 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC PPP6R2 9701 genome.wustl.edu 37 22 50879329 50879329 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 22 50879329 50879329 C G SNP PPP6R2 ENST00000216061 human ensembl 70_37 +1 known missense c.2474 p.S825C 0.997 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC PREB 10113 genome.wustl.edu 37 2 27354887 27354887 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 27354887 27354887 G C SNP PREB ENST00000260643 human ensembl 70_37 -1 known missense c.990 p.F330L 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC PRKAG2 51422 genome.wustl.edu 37 7 151292526 151292526 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 151292526 151292526 C G SNP PRKAG2 ENST00000287878 human ensembl 70_37 -1 known missense c.769 p.E257Q 1.000 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG2 HGNC PRUNE2 158471 genome.wustl.edu 37 9 79229482 79229482 + RNA SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 9 79229482 79229482 C G SNP PRUNE2 ENST00000464414 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PRUNE2 HGNC PSEN1 5663 genome.wustl.edu 37 14 73678482 73678482 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 73678482 73678482 G A SNP PSEN1 ENST00000324501 human ensembl 70_37 +1 known missense c.961 p.E321K 0.034 pfam_Peptidase_A22A,smart_Peptidase_A22 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC PTDSS2 81490 genome.wustl.edu 37 11 489708 489708 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 489708 489708 G C SNP PTDSS2 ENST00000308020 human ensembl 70_37 +1 known missense c.1090 p.E364Q 1.000 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC PWP2 5822 genome.wustl.edu 37 21 45548023 45548023 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 21 45548023 45548023 G A SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known missense c.2351 p.R784K 0.000 pfam_SSU_processome_Utp12 pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC PXDN 7837 genome.wustl.edu 37 2 1647149 1647149 + Missense_Mutation SNP A A T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 1647149 1647149 A T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.3943 p.C1315S 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC PYGM 5837 genome.wustl.edu 37 11 64525261 64525261 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 64525261 64525261 A G SNP PYGM ENST00000164139 human ensembl 70_37 -1 known missense c.650 p.V217A 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC RALY 22913 genome.wustl.edu 37 20 32664864 32664865 + In_Frame_Ins INS - - CAG TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 20 32664864 32664865 - CAG INS RALY ENST00000246194 human ensembl 70_37 +1 known in_frame_ins c.689_690 p.231in_frame_insS 0.001:0.001 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC RECQL5 9400 genome.wustl.edu 37 17 73654526 73654526 + Nonsense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 73654526 73654526 C T SNP RECQL5 ENST00000317905 human ensembl 70_37 -1 known nonsense c.1001 p.W334* 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC RGS17 26575 genome.wustl.edu 37 6 153332762 153332762 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 153332762 153332762 G C SNP RGS17 ENST00000206262 human ensembl 70_37 -1 known missense c.580 p.Q194E 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS17 HGNC RMND1 55005 genome.wustl.edu 37 6 151766898 151766898 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 151766898 151766898 A G SNP RMND1 ENST00000367303 human ensembl 70_37 -1 known missense c.49 p.S17P 0.000 NULL pfam_DUF155 - no_errors RMND1 HGNC ROCK2 9475 genome.wustl.edu 37 2 11332586 11332586 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 11332586 11332586 G A SNP ROCK2 ENST00000315872 human ensembl 70_37 -1 known missense c.3940 p.P1314S 1.000 pfam_Pleckstrin_homology,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 pfam_Prot_kinase_cat_dom,pfam_Rho-bd,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_cat_dom - no_errors ROCK2 HGNC RPS6KA1 6195 genome.wustl.edu 37 1 26898762 26898763 + Frame_Shift_Del DEL AC AC - TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 26898762 26898763 AC - DEL RPS6KA1 ENST00000531382 human ensembl 70_37 +1 known frame_shift_del c.1952_1953 p.T652fs 1.000:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC SEC24D 9871 genome.wustl.edu 37 4 119736623 119736623 + Missense_Mutation SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 4 119736623 119736623 C A SNP SEC24D ENST00000379735 human ensembl 70_37 -1 known missense c.656 p.G219V 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC SEMA3A 10371 genome.wustl.edu 37 7 83610701 83610701 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 83610701 83610701 C T SNP SEMA3A ENST00000265362 human ensembl 70_37 -1 known missense c.1588 p.A530T 1.000 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC SEMA4A 64218 genome.wustl.edu 37 1 156132829 156132829 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 156132829 156132829 G A SNP SEMA4A ENST00000355014 human ensembl 70_37 +1 known missense c.1078 p.E360K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4A HGNC SF3B2 10992 genome.wustl.edu 37 11 65825538 65825538 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 65825538 65825538 C T SNP SF3B2 ENST00000322535 human ensembl 70_37 +1 known missense c.791 p.S264F 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC SIGLEC10 89790 genome.wustl.edu 37 19 51920033 51920033 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 51920033 51920033 G A SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.593 p.S198L 0.168 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC SIGLEC14 100049587 genome.wustl.edu 37 19 52149138 52149138 + Silent SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 52149138 52149138 G T SNP SIGLEC14 ENST00000360844 human ensembl 70_37 -1 known silent c.597 p.T199 0.011 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC14 HGNC SLC22A13 9390 genome.wustl.edu 37 3 38316945 38316945 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 38316945 38316945 C G SNP SLC22A13 ENST00000450935 human ensembl 70_37 +1 known missense c.613 p.Q205E 0.527 NULL NULL - no_errors SLC22A13 HGNC SLC26A8 116369 genome.wustl.edu 37 6 35927343 35927343 + Missense_Mutation SNP T T A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 6 35927343 35927343 T A SNP SLC26A8 ENST00000355574 human ensembl 70_37 -1 known missense c.1757 p.K586I 0.731 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC SLC29A2 3177 genome.wustl.edu 37 11 66130959 66130959 + Missense_Mutation SNP A A G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 66130959 66130959 A G SNP SLC29A2 ENST00000357440 human ensembl 70_37 -1 known missense c.1319 p.L440P 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC SLC29A4 222962 genome.wustl.edu 37 7 5340136 5340136 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 5340136 5340136 C G SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known missense c.1293 p.F431L 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC SON 6651 genome.wustl.edu 37 21 34924700 34924700 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 21 34924700 34924700 G A SNP SON ENST00000356577 human ensembl 70_37 +1 known missense c.3163 p.E1055K 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC SPOPL 339745 genome.wustl.edu 37 2 139308479 139308479 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 139308479 139308479 G A SNP SPOPL ENST00000280098 human ensembl 70_37 +1 known silent c.207 p.L69 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC STAM2 10254 genome.wustl.edu 37 2 153001276 153001276 + RNA SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 153001276 153001276 C G SNP STAM2 ENST00000465460 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors STAM2 HGNC STK17B 9262 genome.wustl.edu 37 2 197004445 197004445 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 197004445 197004445 G A SNP STK17B ENST00000263955 human ensembl 70_37 -1 known silent c.735 p.L245 0.998 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors STK17B HGNC SUV39H2 79723 genome.wustl.edu 37 10 14944426 14944426 + Missense_Mutation SNP A A T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 14944426 14944426 A T SNP SUV39H2 ENST00000354919 human ensembl 70_37 +1 known missense c.1148 p.D383V 1.000 pirsf_Histone_H3-K9_MeTrfase pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64596563 64596563 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 64596563 64596563 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.14083 p.E4695K 0.299 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 TBATA 219793 genome.wustl.edu 37 10 72541760 72541760 + Nonsense_Mutation SNP G G T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 10 72541760 72541760 G T SNP TBATA ENST00000299290 human ensembl 70_37 -1 known nonsense c.74 p.S25* 0.034 NULL NULL - no_errors TBATA HGNC TEKT5 146279 genome.wustl.edu 37 16 10788238 10788238 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 10788238 10788238 C G SNP TEKT5 ENST00000283025 human ensembl 70_37 -1 known missense c.493 p.E165Q 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC TENM2 57451 genome.wustl.edu 37 5 167645660 167645660 + Silent SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 167645660 167645660 C A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.4764 p.P1588 0.001 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC THRAP3 9967 genome.wustl.edu 37 1 36754830 36754830 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 1 36754830 36754830 C T SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known missense c.1210 p.R404W 0.997 NULL NULL - no_errors THRAP3 HGNC TMC2 117532 genome.wustl.edu 37 20 2597805 2597805 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 20 2597805 2597805 G A SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.2028 p.M676I 1.000 pfam_TMC pfam_TMC - no_errors TMC2 HGNC TMEM120B 144404 genome.wustl.edu 37 12 122209422 122209422 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 12 122209422 122209422 C T SNP TMEM120B ENST00000342607 human ensembl 70_37 +1 known missense c.646 p.R216C 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC TNIK 23043 genome.wustl.edu 37 3 170828505 170828505 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 170828505 170828505 C T SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.2282 p.R761Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC TNRC6C 57690 genome.wustl.edu 37 17 76045615 76045615 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 76045615 76045615 G A SNP TNRC6C ENST00000335749 human ensembl 70_37 +1 known missense c.472 p.E158K 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC TP63 8626 genome.wustl.edu 37 3 189585726 189585726 + Silent SNP C C A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 189585726 189585726 C A SNP TP63 ENST00000264731 human ensembl 70_37 +1 known silent c.987 p.T329 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC TRIP12 9320 genome.wustl.edu 37 2 230723835 230723835 + Nonsense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 230723835 230723835 G C SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known nonsense c.554 p.S185* 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TTC17 55761 genome.wustl.edu 37 11 43429072 43429072 + Missense_Mutation SNP T T G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 11 43429072 43429072 T G SNP TTC17 ENST00000039989 human ensembl 70_37 +1 known missense c.2009 p.L670R 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC TTN 7273 genome.wustl.edu 37 2 179604131 179604131 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 179604131 179604131 G A SNP TTN ENST00000342175 human ensembl 70_37 -1 known missense c.13316 p.T4439I 0.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179641600 179641600 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 179641600 179641600 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.4991 p.R1664Q 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TXNL4B 54957 genome.wustl.edu 37 16 72122968 72122968 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 72122968 72122968 C G SNP TXNL4B ENST00000268483 human ensembl 70_37 -1 known missense c.202 p.V68L 0.824 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4B HGNC UMPS 7372 genome.wustl.edu 37 3 124461011 124461011 + Missense_Mutation SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 124461011 124461011 G A SNP UMPS ENST00000232607 human ensembl 70_37 +1 known missense c.1171 p.E391K 1.000 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC VIPAS39 63894 genome.wustl.edu 37 14 77919688 77919688 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 77919688 77919688 G A SNP VIPAS39 ENST00000343765 human ensembl 70_37 -1 known silent c.150 p.D50 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC WARS 7453 genome.wustl.edu 37 14 100820164 100820164 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 14 100820164 100820164 C T SNP WARS ENST00000355338 human ensembl 70_37 -1 known missense c.585 p.M195I 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS HGNC YTHDC2 64848 genome.wustl.edu 37 5 112862370 112862370 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 5 112862370 112862370 C G SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.563 p.S188C 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ZEB2 9839 genome.wustl.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 2 145147383 145147383 C T SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.3280 p.E1094K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ZKSCAN2 342357 genome.wustl.edu 37 16 25255471 25255471 + Missense_Mutation SNP C C T TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 16 25255471 25255471 C T SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known missense c.1616 p.R539Q 0.111 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ZNF160 90338 genome.wustl.edu 37 19 53589517 53589517 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 19 53589517 53589517 G C SNP ZNF160 ENST00000418871 human ensembl 70_37 -1 known missense c.13 p.Q5E 0.602 superfamily_Krueppel-associated_box 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 ZNF160 HGNC ZNF594 84622 genome.wustl.edu 37 17 5086862 5086862 + Missense_Mutation SNP C C G TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 17 5086862 5086862 C G SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known missense c.690 p.Q230H 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ZNF862 643641 genome.wustl.edu 37 7 149557788 149557788 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 7 149557788 149557788 G A SNP ZNF862 ENST00000223210 human ensembl 70_37 +1 known silent c.1539 p.V513 1.000 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ZPLD1 131368 genome.wustl.edu 37 3 102183077 102183077 + Missense_Mutation SNP G G C TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99551676-a16b-4a7c-84a2-571731130d86 6881795c-5c2f-4406-ae0a-62c58056b4f2 3 102183077 102183077 G C SNP ZPLD1 ENST00000306176 human ensembl 70_37 +1 known missense c.791 p.R264P 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors ZPLD1 HGNC