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 ABCA12 26154 genome.wustl.edu 37 2 215854146 215854146 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 215854146 215854146 C T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.3736 p.D1246N 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC AGRN 375790 genome.wustl.edu 37 1 984694 984694 + Silent SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 984694 984694 G T SNP AGRN ENST00000379370 human ensembl 70_37 +1 known silent c.4377 p.L1459 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC AHNAK2 113146 genome.wustl.edu 37 14 105418694 105418694 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 105418694 105418694 G C SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.3094 p.L1032V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ALPL 249 genome.wustl.edu 37 1 21887187 21887187 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 21887187 21887187 C G SNP ALPL ENST00000374832 human ensembl 70_37 +1 known missense c.130 p.Q44E 1.000 superfamily_Alkaline_phosphatase_core pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC AP3B1 8546 genome.wustl.edu 37 5 77452106 77452106 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 77452106 77452106 C T SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.1449 p.M483I 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ARHGAP32 9743 genome.wustl.edu 37 11 128858006 128858006 + Nonsense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 128858006 128858006 G A SNP ARHGAP32 ENST00000310343 human ensembl 70_37 -1 known nonsense c.1168 p.Q390* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ARMCX3-AS1 100128574 genome.wustl.edu 37 X 100878176 100878176 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 100878176 100878176 G A SNP ARMCX3-AS1 ENST00000454228 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARMCX3-AS1 HGNC ATP1B1 481 genome.wustl.edu 37 1 169100675 169100675 + Missense_Mutation SNP A A G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 169100675 169100675 A G SNP ATP1B1 ENST00000367815 human ensembl 70_37 +1 known missense c.794 p.N265S 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B1 HGNC ATP7B 540 genome.wustl.edu 37 13 52518268 52518268 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 13 52518268 52518268 C T SNP ATP7B ENST00000242839 human ensembl 70_37 -1 known missense c.3220 p.A1074T 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ATRX 546 genome.wustl.edu 37 X 76949326 76949326 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 76949326 76949326 G A SNP ATRX ENST00000373344 human ensembl 70_37 -1 known silent c.471 p.L157 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC BACE2 25825 genome.wustl.edu 37 21 42598208 42598208 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 21 42598208 42598208 G T SNP BACE2 ENST00000330333 human ensembl 70_37 +1 known missense c.328 p.D110Y 0.986 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC BCAR1 9564 genome.wustl.edu 37 16 75301816 75301816 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 75301816 75301816 G A SNP BCAR1 ENST00000393422 human ensembl 70_37 -1 known silent c.63 p.L21 0.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC C1GALT1C1 29071 genome.wustl.edu 37 X 119760183 119760183 + Missense_Mutation SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 119760183 119760183 C A SNP C1GALT1C1 ENST00000304661 human ensembl 70_37 -1 known missense c.839 p.G280V 1.000 NULL NULL - no_errors C1GALT1C1 HGNC C20orf196 149840 genome.wustl.edu 37 20 5753576 5753576 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 20 5753576 5753576 C T SNP C20orf196 ENST00000303142 human ensembl 70_37 +1 known missense c.65 p.S22L 0.002 NULL NULL - no_errors C20orf196 HGNC C3orf70 285382 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 184870595 184870595 G A SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known missense c.17 p.S6L 0.804 NULL NULL - no_errors C3orf70 HGNC CACNG1 786 genome.wustl.edu 37 17 65050167 65050167 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 65050167 65050167 C T SNP CACNG1 ENST00000226021 human ensembl 70_37 +1 known silent c.285 p.F95 0.986 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC CALD1 800 genome.wustl.edu 37 7 134618683 134618683 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 134618683 134618683 G A SNP CALD1 ENST00000361675 human ensembl 70_37 +1 novel missense c.1163 p.R388H 0.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC CANX 821 genome.wustl.edu 37 5 179151711 179151711 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 179151711 179151711 G A SNP CANX ENST00000415618 human ensembl 70_37 +1 known silent c.1677 p.V559 1.000 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC CARD14 79092 genome.wustl.edu 37 17 78176112 78176112 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 78176112 78176112 C T SNP CARD14 ENST00000392434 human ensembl 70_37 +1 known missense c.1274 p.T425M 0.511 NULL superfamily_PDZ - no_errors CARD14 HGNC CD8A 925 genome.wustl.edu 37 2 87017672 87017672 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 87017672 87017672 C G SNP CD8A ENST00000538832 human ensembl 70_37 -1 known missense c.305 p.R102P 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8A HGNC CELF2 10659 genome.wustl.edu 37 10 11299828 11299828 + Silent SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 11299828 11299828 G C SNP CELF2 ENST00000450189 human ensembl 70_37 +1 known silent c.531 p.L177 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC CLCN4 1183 genome.wustl.edu 37 X 10181774 10181774 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 10181774 10181774 G A SNP CLCN4 ENST00000380833 human ensembl 70_37 +1 known missense c.1630 p.G544R 0.999 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC CNOT3 4849 genome.wustl.edu 37 19 54649372 54649372 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 54649372 54649372 G C SNP CNOT3 ENST00000221232 human ensembl 70_37 +1 known missense c.522 p.E174D 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC CNPY3 10695 genome.wustl.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 42897358 42897360 TGC - DEL CNPY3 ENST00000372836 human ensembl 70_37 +1 known in_frame_del c.50_52 p.L21in_frame_del 0.122:0.131:0.153 NULL pfam_DUF3456 - no_errors CNPY3 HGNC COL6A6 131873 genome.wustl.edu 37 3 130286029 130286029 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 130286029 130286029 G C SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.1766 p.R589T 0.268 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC CRTC3 64784 genome.wustl.edu 37 15 91181971 91181971 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 15 91181971 91181971 C T SNP CRTC3 ENST00000268184 human ensembl 70_37 +1 known missense c.1472 p.S491L 0.447 NULL NULL - no_errors CRTC3 HGNC CUBN 8029 genome.wustl.edu 37 10 17113832 17113832 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 17113832 17113832 G C SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.2440 p.Q814E 1.000 superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC CUEDC2 79004 genome.wustl.edu 37 10 104184033 104184033 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 104184033 104184033 G T SNP CUEDC2 ENST00000369937 human ensembl 70_37 -1 known missense c.399 p.D133E 0.003 superfamily_UBA-like pfam_CUE,superfamily_UBA-like,pfscan_CUE - no_errors CUEDC2 HGNC CXCR4 7852 genome.wustl.edu 37 2 136872945 136872945 + Missense_Mutation SNP T T C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 136872945 136872945 T C SNP CXCR4 ENST00000409817 human ensembl 70_37 -1 known missense c.565 p.I189V 0.034 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC DCAF8 50717 genome.wustl.edu 37 1 160187440 160187440 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 160187440 160187440 G A SNP DCAF8 ENST00000555195 human ensembl 70_37 -1 known missense c.2198 p.S733F 1.000 NULL pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC DGKD 8527 genome.wustl.edu 37 2 234294806 234294806 + RNA DEL T T - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 234294806 234294806 T - DEL DGKD ENST00000489613 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors DGKD HGNC DIDO1 11083 genome.wustl.edu 37 20 61511181 61511181 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 20 61511181 61511181 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.6127 p.E2043K 0.066 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC DNAJC14 85406 genome.wustl.edu 37 12 56216892 56216892 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 56216892 56216892 C T SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.1596 p.M532I 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC DUOX2 50506 genome.wustl.edu 37 15 45404058 45404058 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 15 45404058 45404058 C T SNP DUOX2 ENST00000389039 human ensembl 70_37 -1 known missense c.421 p.D141N 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ECE2 9718 genome.wustl.edu 37 3 184008096 184008096 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 184008096 184008096 C G SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.1959 p.F653L 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ELFN1 392617 genome.wustl.edu 37 7 1785298 1785298 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 1785298 1785298 G A SNP ELFN1 ENST00000424383 human ensembl 70_37 +1 known missense c.1066 p.V356M 0.977 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENSG00000196364 0 genome.wustl.edu 37 16 1311359 1311359 + RNA SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 1311359 1311359 G C SNP ENSG00000196364 ENST00000440800 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-616M22.6 Clone_based_vega_gene ENSG00000227304 0 genome.wustl.edu 37 4 83417157 83417157 + RNA SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 83417157 83417157 G C SNP ENSG00000227304 ENST00000488045 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000255345 0 genome.wustl.edu 37 11 78807960 78807961 + RNA DEL TG TG - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 78807960 78807961 TG - DEL ENSG00000255345 ENST00000526091 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2337I7.1 Clone_based_vega_gene ENSG00000257931 0 genome.wustl.edu 37 14 19969313 19969313 + RNA SNP T T A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 19969313 19969313 T A SNP ENSG00000257931 ENST00000547399 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-2311B13.7 Clone_based_vega_gene ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC EP400 57634 genome.wustl.edu 37 12 132466052 132466052 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 132466052 132466052 G C SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.1562 p.R521P 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC EXOG 9941 genome.wustl.edu 37 3 38583288 38583288 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 38583288 38583288 C T SNP EXOG ENST00000358249 human ensembl 70_37 +1 known silent c.301 p.L101 0.000 smart_Extracellular_endonuc_su_A pfam_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors EXOG HGNC FAM120A 23196 genome.wustl.edu 37 9 96320130 96320130 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 9 96320130 96320130 G C SNP FAM120A ENST00000333936 human ensembl 70_37 +1 known missense c.2590 p.E864Q 1.000 NULL NULL - no_errors FAM120A HGNC FAM151A 338094 genome.wustl.edu 37 1 55075436 55075436 + Silent SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 55075436 55075436 G C SNP FAM151A ENST00000302250 human ensembl 70_37 -1 known silent c.1263 p.L421 0.999 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC FAM151A 338094 genome.wustl.edu 37 1 55075447 55075447 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 55075447 55075447 G C SNP FAM151A ENST00000302250 human ensembl 70_37 -1 known missense c.1252 p.P418A 0.864 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC FAM47B 170062 genome.wustl.edu 37 X 34962465 34962465 + Nonsense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 34962465 34962465 C G SNP FAM47B ENST00000329357 human ensembl 70_37 +1 known nonsense c.1517 p.S506* 0.003 NULL NULL - no_errors FAM47B HGNC FAM71B 153745 genome.wustl.edu 37 5 156589475 156589475 + Frame_Shift_Del DEL C C - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 156589475 156589475 C - DEL FAM71B ENST00000302938 human ensembl 70_37 -1 known frame_shift_del c.1801 p.E601fs 0.998 NULL pfam_DUF3699 - no_errors FAM71B HGNC FAM71B 153745 genome.wustl.edu 37 5 156589551 156589551 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 156589551 156589551 C G SNP FAM71B ENST00000302938 human ensembl 70_37 -1 known missense c.1725 p.E575D 0.991 NULL pfam_DUF3699 - no_errors FAM71B HGNC FANCA 2175 genome.wustl.edu 37 16 89865582 89865582 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 89865582 89865582 C T SNP FANCA ENST00000389301 human ensembl 70_37 -1 known silent c.885 p.V295 0.001 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC FLG 2312 genome.wustl.edu 37 1 152275919 152275919 + Missense_Mutation SNP T T A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 152275919 152275919 T A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.11443 p.N3815Y 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FOXD4 2298 genome.wustl.edu 37 9 117889 117889 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 9 117889 117889 G A SNP FOXD4 ENST00000382500 human ensembl 70_37 -1 known silent c.231 p.S77 0.002 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC FRMPD4 9758 genome.wustl.edu 37 X 12734605 12734605 + Missense_Mutation SNP A A T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 12734605 12734605 A T SNP FRMPD4 ENST00000380682 human ensembl 70_37 +1 known missense c.2027 p.D676V 0.995 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC FSTL5 56884 genome.wustl.edu 37 4 162459336 162459336 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 162459336 162459336 C T SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.1294 p.D432N 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC GAL3ST1 9514 genome.wustl.edu 37 22 30951193 30951193 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 30951193 30951193 C T SNP GAL3ST1 ENST00000338911 human ensembl 70_37 -1 known missense c.1019 p.R340H 0.991 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC HECTD4 283450 genome.wustl.edu 37 12 112622247 112622247 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 112622247 112622247 G C SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.10007 p.S3336C 0.972 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HECW1 23072 genome.wustl.edu 37 7 43484129 43484129 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 43484129 43484129 C T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known missense c.1358 p.P453L 0.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC HIST1H3I 8354 genome.wustl.edu 37 6 27839983 27839983 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 27839983 27839983 C G SNP HIST1H3I ENST00000328488 human ensembl 70_37 -1 known missense c.111 p.K37N 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC HM13 81502 genome.wustl.edu 37 20 30142485 30142485 + RNA DEL A A - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 20 30142485 30142485 A - DEL HM13 ENST00000474466 human ensembl 70_37 +1 known rna NULL NULL 0.172 - - - no_errors HM13 HGNC HYDIN 54768 genome.wustl.edu 37 16 71127826 71127826 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 71127826 71127826 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.1340 p.R447H 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC IKZF2 22807 genome.wustl.edu 37 2 214012328 214012328 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 214012328 214012328 G A SNP IKZF2 ENST00000442445 human ensembl 70_37 -1 putative silent c.261 p.Y87 1.000 NULL NULL - no_errors IKZF2 HGNC IL17RC 84818 genome.wustl.edu 37 3 9959778 9959778 + Nonstop_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 9959778 9959778 G T SNP IL17RC ENST00000440502 human ensembl 70_37 +1 known nonstop c.299 p.*100L 0.001 NULL NULL - no_errors IL17RC HGNC INCENP 3619 genome.wustl.edu 37 11 61914360 61914360 + Silent SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 61914360 61914360 G T SNP INCENP ENST00000394818 human ensembl 70_37 +1 known silent c.2190 p.R730 0.912 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC IQGAP1 8826 genome.wustl.edu 37 15 91017856 91017856 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 15 91017856 91017856 G T SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.2715 p.Q905H 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC IRX6 79190 genome.wustl.edu 37 16 55362858 55362858 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 55362858 55362858 G A SNP IRX6 ENST00000290552 human ensembl 70_37 +1 known missense c.968 p.G323E 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX6 HGNC KCNK9 51305 genome.wustl.edu 37 8 140630753 140630753 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 8 140630753 140630753 C T SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known silent c.873 p.P291 0.066 pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC KIAA0368 23392 genome.wustl.edu 37 9 114140944 114140944 + Silent SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 9 114140944 114140944 G C SNP KIAA0368 ENST00000259335 human ensembl 70_37 -1 known silent c.4404 p.L1468 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC KIAA0907 22889 genome.wustl.edu 37 1 155891712 155891712 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 155891712 155891712 G A SNP KIAA0907 ENST00000483237 human ensembl 70_37 -1 known rna NULL NULL 0.078 - - - no_errors KIAA0907 HGNC KIF1B 23095 genome.wustl.edu 37 1 10327472 10327472 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 10327472 10327472 G A SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.464 p.R155Q 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF7 374654 genome.wustl.edu 37 15 90189187 90189187 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 15 90189187 90189187 G A SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.1859 p.S620L 0.949 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC LAMB3 3914 genome.wustl.edu 37 1 209823454 209823454 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 209823454 209823454 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known missense c.38 p.G13D 0.629 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC LEP 3952 genome.wustl.edu 37 7 127894739 127894739 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 127894739 127894739 G A SNP LEP ENST00000308868 human ensembl 70_37 +1 known missense c.427 p.E143K 0.951 pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin - no_errors LEP HGNC LINC00207 388910 genome.wustl.edu 37 22 44965319 44965319 + Nonsense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 44965319 44965319 G T SNP LINC00207 ENST00000334566 human ensembl 70_37 +1 putative nonsense c.34 p.G12* 0.102 NULL NULL - no_errors LINC00207 HGNC LOC407835 407835 genome.wustl.edu 37 7 128767638 128767638 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 128767638 128767638 G A SNP LOC407835 ENST00000471777 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-286H14.4 Clone_based_vega_gene LOC642633 642633 genome.wustl.edu 37 22 21538766 21538766 + RNA SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 21538766 21538766 C T SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.178 - - - no_errors KB-1183D5.11 Clone_based_vega_gene LOC728208 728208 genome.wustl.edu 37 2 241922262 241922262 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 241922262 241922262 G A SNP LOC728208 ENST00000425110 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AC104809.2 Clone_based_vega_gene LRP1 4035 genome.wustl.edu 37 12 57598989 57598989 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 57598989 57598989 C T SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known silent c.11292 p.F3764 0.765 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC LRP1 4035 genome.wustl.edu 37 12 57604559 57604559 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 57604559 57604559 G A SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known silent c.12813 p.V4271 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC LTN1 26046 genome.wustl.edu 37 21 30339206 30339206 + Frame_Shift_Del DEL T T - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 21 30339206 30339206 T - DEL LTN1 ENST00000361371 human ensembl 70_37 -1 known frame_shift_del c.1607 p.N536fs 0.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC MC1R 4157 genome.wustl.edu 37 16 89981102 89981102 + RNA SNP T T C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 89981102 89981102 T C SNP MC1R ENST00000539976 human ensembl 70_37 +1 known rna NULL NULL 0.654 - - - no_errors MC1R HGNC MGAM 8972 genome.wustl.edu 37 7 141764242 141764242 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 141764242 141764242 G C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.4404 p.Q1468H 0.970 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MGRN1 23295 genome.wustl.edu 37 16 4730186 4730186 + RNA SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 4730186 4730186 G A SNP MGRN1 ENST00000592256 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors MGRN1 HGNC MIER1 57708 genome.wustl.edu 37 1 67423820 67423820 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 67423820 67423820 G A SNP MIER1 ENST00000401041 human ensembl 70_37 +1 known missense c.418 p.E140K 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC MKL2 57496 genome.wustl.edu 37 16 14311069 14311069 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 14311069 14311069 C G SNP MKL2 ENST00000341243 human ensembl 70_37 +1 known missense c.406 p.Q136E 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC MLH3 27030 genome.wustl.edu 37 14 75505074 75505074 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 75505074 75505074 C T SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known missense c.3612 p.M1204I 1.000 smart_MutL_C pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC KMT2D 8085 genome.wustl.edu 37 12 49431567 49431567 + Frame_Shift_Del DEL G G - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 49431567 49431567 G - DEL MLL2 ENST00000301067 human ensembl 70_37 -1 known frame_shift_del c.9572 p.P3191fs 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 MUC6 4588 genome.wustl.edu 37 11 1016049 1016049 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 1016049 1016049 G A SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.6752 p.T2251M 0.057 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC MUC6 4588 genome.wustl.edu 37 11 1019337 1019337 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 1019337 1019337 G A SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.3968 p.S1323F 0.038 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC MYBPC2 4606 genome.wustl.edu 37 19 50958397 50958397 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 50958397 50958397 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known nonsense c.2047 p.Q683* 0.913 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC MYH1 4619 genome.wustl.edu 37 17 10398362 10398362 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 10398362 10398362 C T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known silent c.5352 p.E1784 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC MYH14 79784 genome.wustl.edu 37 19 50792782 50792782 + Silent SNP A A T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 50792782 50792782 A T SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known silent c.4842 p.T1614 0.993 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC NAV3 89795 genome.wustl.edu 37 12 78553032 78553032 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 78553032 78553032 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.4835 p.R1612Q 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NFXL1 152518 genome.wustl.edu 37 4 47853888 47853888 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 47853888 47853888 C T SNP NFXL1 ENST00000381538 human ensembl 70_37 -1 known silent c.2493 p.K831 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC NHS 4810 genome.wustl.edu 37 X 17743568 17743568 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 17743568 17743568 G C SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1279 p.E427Q 1.000 NULL NULL - no_errors NHS HGNC NLGN1 22871 genome.wustl.edu 37 3 173998301 173998301 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 3 173998301 173998301 G A SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known silent c.1800 p.T600 0.999 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC NLRC5 84166 genome.wustl.edu 37 16 57070034 57070034 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 57070034 57070034 G A SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.2650 p.D884N 0.988 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC NOC2L 26155 genome.wustl.edu 37 1 891554 891554 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 891554 891554 C T SNP NOC2L ENST00000327044 human ensembl 70_37 -1 known silent c.528 p.A176 0.043 NULL pfam_UPF0120,superfamily_ARM-type_fold - no_errors NOC2L HGNC NRAP 4892 genome.wustl.edu 37 10 115405665 115405665 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 115405665 115405665 G A SNP NRAP ENST00000369358 human ensembl 70_37 -1 known silent c.1029 p.G343 0.003 pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC NRP2 8828 genome.wustl.edu 37 2 206659477 206659477 + Splice_Site SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 206659477 206659477 G C SNP NRP2 ENST00000360409 human ensembl 70_37 +1 known splice_site c.2492-1 e17-1 0.999 - - - no_errors NRP2 HGNC NXPH1 30010 genome.wustl.edu 37 7 8475386 8475386 + Missense_Mutation SNP A A G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 8475386 8475386 A G SNP NXPH1 ENST00000405863 human ensembl 70_37 +1 known missense c.43 p.T15A 1.000 pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH1 HGNC OPCML 4978 genome.wustl.edu 37 11 132307162 132307162 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 132307162 132307162 G A SNP OPCML ENST00000541867 human ensembl 70_37 -1 known silent c.618 p.N206 0.898 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors OPCML HGNC OR10H5 284433 genome.wustl.edu 37 19 15905236 15905236 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 15905236 15905236 C T SNP OR10H5 ENST00000308940 human ensembl 70_37 +1 known silent c.378 p.I126 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC PCDHB11 56125 genome.wustl.edu 37 5 140581381 140581381 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 140581381 140581381 G A SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known silent c.2034 p.P678 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC PDE6B 5158 genome.wustl.edu 37 4 654372 654372 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 654372 654372 C T SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.1584 p.G528 0.849 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC PDK3 5165 genome.wustl.edu 37 X 24552121 24552121 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 24552121 24552121 G A SNP PDK3 ENST00000441463 human ensembl 70_37 +1 known missense c.1153 p.E385K 1.000 NULL pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC PDZK1 5174 genome.wustl.edu 37 1 145763451 145763454 + RNA DEL GAAA GAAA - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 145763451 145763454 GAAA - DEL PDZK1 ENST00000465595 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001:0.002:0.001 - - - no_errors PDZK1 HGNC PIBF1 10464 genome.wustl.edu 37 13 73366588 73366588 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 13 73366588 73366588 G A SNP PIBF1 ENST00000326291 human ensembl 70_37 +1 known missense c.256 p.E86K 1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC PLEC 5339 genome.wustl.edu 37 8 144997455 144997455 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 8 144997455 144997455 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.7053 p.A2351 0.007 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC POLK 51426 genome.wustl.edu 37 5 74848348 74848348 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 5 74848348 74848348 C T SNP POLK ENST00000241436 human ensembl 70_37 +1 known nonsense c.187 p.R63* 1.000 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC PSMD11 5717 genome.wustl.edu 37 17 30771577 30771577 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 30771577 30771577 C T SNP PSMD11 ENST00000261712 human ensembl 70_37 +1 known silent c.36 p.A12 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC RAB2A 5862 genome.wustl.edu 37 8 61504434 61504434 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 8 61504434 61504434 G A SNP RAB2A ENST00000262646 human ensembl 70_37 +1 known missense c.380 p.R127K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2A HGNC RAE1 8480 genome.wustl.edu 37 20 55931505 55931505 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 20 55931505 55931505 C T SNP RAE1 ENST00000371242 human ensembl 70_37 +1 known missense c.199 p.R67C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC RALGAPA1 253959 genome.wustl.edu 37 14 36157725 36157725 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 36157725 36157725 C G SNP RALGAPA1 ENST00000382366 human ensembl 70_37 -1 novel missense c.2456 p.R819T 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC NELFE 7936 genome.wustl.edu 37 6 31922450 31922450 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 31922450 31922450 C T SNP RDBP ENST00000375429 human ensembl 70_37 -1 known silent c.624 p.R208 0.004 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RDBP HGNC RDM1 201299 genome.wustl.edu 37 17 34252522 34252522 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 34252522 34252522 G A SNP RDM1 ENST00000293273 human ensembl 70_37 -1 known silent c.396 p.I132 0.996 pfam_Rad52_Rad22 pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC RGAG1 57529 genome.wustl.edu 37 X 109696640 109696640 + Missense_Mutation SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 109696640 109696640 C A SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.2795 p.A932D 0.020 NULL NULL - no_errors RGAG1 HGNC RGPD3 653489 genome.wustl.edu 37 2 107029640 107029640 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 107029640 107029640 G A SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known silent c.5166 p.F1722 1.000 pfam_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC RLF 6018 genome.wustl.edu 37 1 40705375 40705375 + Silent SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 40705375 40705375 C A SNP RLF ENST00000372771 human ensembl 70_37 +1 known silent c.5001 p.L1667 0.326 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC RPL31P11 641311 genome.wustl.edu 37 1 161654571 161654572 + RNA INS - - T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 161654571 161654572 - T INS RPL31P11 ENST00000426558 human ensembl 70_37 -1 known rna NULL NULL 0.140:0.150 - - - no_errors RPL31P11 HGNC RPTOR 57521 genome.wustl.edu 37 17 78857241 78857241 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 17 78857241 78857241 C T SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.1607 p.A536V 0.893 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC SCCPDH 51097 genome.wustl.edu 37 1 246903556 246903556 + Missense_Mutation SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 246903556 246903556 C A SNP SCCPDH ENST00000366510 human ensembl 70_37 +1 known missense c.467 p.S156Y 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC SEC61B 10952 genome.wustl.edu 37 9 101984964 101984964 + RNA SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 9 101984964 101984964 G C SNP SEC61B ENST00000481573 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SEC61B HGNC SERPINA6 866 genome.wustl.edu 37 14 94780392 94780392 + Silent SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 94780392 94780392 G C SNP SERPINA6 ENST00000341584 human ensembl 70_37 -1 known silent c.594 p.V198 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA6 HGNC SIGLEC10 89790 genome.wustl.edu 37 19 51917047 51917047 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 51917047 51917047 C T SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known silent c.1740 p.Q580 0.000 NULL 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 SIRT2 22933 genome.wustl.edu 37 19 39370308 39370308 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 39370308 39370308 C T SNP SIRT2 ENST00000249396 human ensembl 70_37 -1 known missense c.911 p.G304E 1.000 pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT2 HGNC SLC16A2 6567 genome.wustl.edu 37 X 73740862 73740862 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 73740862 73740862 C G SNP SLC16A2 ENST00000276033 human ensembl 70_37 +1 known missense c.690 p.F230L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC SLC2A9 56606 genome.wustl.edu 37 4 9982227 9982227 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 9982227 9982227 G A SNP SLC2A9 ENST00000264784 human ensembl 70_37 -1 known silent c.670 p.L224 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC SLC2A9 56606 genome.wustl.edu 37 4 9987312 9987312 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 9987312 9987312 G T SNP SLC2A9 ENST00000264784 human ensembl 70_37 -1 known missense c.516 p.F172L 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC SLITRK6 84189 genome.wustl.edu 37 13 86369518 86369518 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 13 86369518 86369518 G A SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.1126 p.H376Y 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC SMC3 9126 genome.wustl.edu 37 10 112343217 112343217 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 112343217 112343217 G A SNP SMC3 ENST00000361804 human ensembl 70_37 +1 known missense c.880 p.E294K 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC SMG1 23049 genome.wustl.edu 37 16 18849892 18849892 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 18849892 18849892 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.7065 p.Y2355 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SNAP29 9342 genome.wustl.edu 37 22 21237835 21237835 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 21237835 21237835 C T SNP SNAP29 ENST00000215730 human ensembl 70_37 +1 known silent c.597 p.H199 1.000 smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP29 HGNC SNORD114-17 767595 genome.wustl.edu 37 14 101441171 101441171 + RNA SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 101441171 101441171 G T SNP SNORD114-17 ENST00000364699 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD114-17 HGNC SPPL3 121665 genome.wustl.edu 37 12 121220471 121220471 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 121220471 121220471 C T SNP SPPL3 ENST00000353487 human ensembl 70_37 -1 known nonsense c.489 p.W163* 1.000 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 - no_errors SPPL3 HGNC SPTBN4 57731 genome.wustl.edu 37 19 41008209 41008209 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 41008209 41008209 G A SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known missense c.1072 p.E358K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC SRRM4 84530 genome.wustl.edu 37 12 119594444 119594444 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 119594444 119594444 G A SNP SRRM4 ENST00000267260 human ensembl 70_37 +1 known silent c.1677 p.R559 0.961 NULL NULL - no_errors SRRM4 HGNC SUV420H2 84787 genome.wustl.edu 37 19 55858727 55858727 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 55858727 55858727 C T SNP SUV420H2 ENST00000255613 human ensembl 70_37 +1 known silent c.1299 p.L433 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC TET2 54790 genome.wustl.edu 37 4 106190797 106190797 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 106190797 106190797 C T SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.4075 p.R1359C 1.000 NULL NULL - no_errors TET2 HGNC TET2 54790 genome.wustl.edu 37 4 106196258 106196258 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 4 106196258 106196258 C G SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.4591 p.L1531V 0.001 NULL NULL - no_errors TET2 HGNC TMEM132C 92293 genome.wustl.edu 37 12 129028589 129028589 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 129028589 129028589 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known silent c.1062 p.G354 0.986 NULL NULL - no_errors TMEM132C HGNC TMEM132D 121256 genome.wustl.edu 37 12 129563184 129563184 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 129563184 129563184 C T SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known silent c.2010 p.V670 0.934 NULL NULL - no_errors TMEM132D HGNC TMEM234 56063 genome.wustl.edu 37 1 32686761 32686761 + Missense_Mutation SNP A A C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 32686761 32686761 A C SNP TMEM234 ENST00000461402 human ensembl 70_37 -1 known missense c.206 p.L69R 1.000 pfam_UPF0546 pfam_UPF0546 - no_errors TMEM234 HGNC TMTC3 160418 genome.wustl.edu 37 12 88547151 88547151 + Silent SNP A A G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 88547151 88547151 A G SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known silent c.273 p.S91 0.636 NULL pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC TNRC18 84629 genome.wustl.edu 37 7 5410712 5410712 + Missense_Mutation SNP C C A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 7 5410712 5410712 C A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.3513 p.E1171D 0.025 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC TNXB 7148 genome.wustl.edu 37 6 32049228 32049228 + Missense_Mutation SNP T T C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 32049228 32049228 T C SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.3959 p.D1320G 0.344 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TPTE 7179 genome.wustl.edu 37 21 10942925 10942927 + In_Frame_Del DEL CTT CTT - TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 21 10942925 10942927 CTT - DEL TPTE ENST00000361285 human ensembl 70_37 -1 known in_frame_del c.662_660 p.R222in_frame_del 1.000:1.000:1.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5655130 5655130 + Splice_Site SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 11 5655130 5655130 G T SNP TRIM6-TRIM34 ENST00000354852 human ensembl 70_37 +1 known splice_site c.1581+1 e9+1 1.000 - - - no_errors TRIM6-TRIM34 HGNC TTN 7273 genome.wustl.edu 37 2 179469564 179469564 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 179469564 179469564 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.46548 p.L15516F 0.993 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 TTN 7273 genome.wustl.edu 37 2 179489195 179489195 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 2 179489195 179489195 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37108 p.V12370M 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub 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 TUBA8 51807 genome.wustl.edu 37 22 18609626 18609626 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 22 18609626 18609626 C G SNP TUBA8 ENST00000330423 human ensembl 70_37 +1 known missense c.881 p.S294C 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC UHMK1 127933 genome.wustl.edu 37 1 162493117 162493117 + RNA SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 162493117 162493117 G C SNP UHMK1 ENST00000282169 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors UHMK1 HGNC USP9X 8239 genome.wustl.edu 37 X 41075524 41075524 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 41075524 41075524 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.5704 p.D1902N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC VWA5B1 127731 genome.wustl.edu 37 1 20649867 20649867 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 1 20649867 20649867 C T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.985 p.R329C 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC VWF 7450 genome.wustl.edu 37 12 6232014 6232014 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 12 6232014 6232014 C T SNP VWF ENST00000572068 human ensembl 70_37 -1 known missense c.43 p.G15R 0.000 NULL pfam_VWF_type-D,smart_VWF_type-D - no_errors VWF HGNC WAPAL 23063 genome.wustl.edu 37 10 88196319 88196319 + RNA SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 88196319 88196319 C T SNP WAPAL ENST00000484070 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WAPAL HGNC ZBTB2 57621 genome.wustl.edu 37 6 151687599 151687599 + Missense_Mutation SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 6 151687599 151687599 G A SNP ZBTB2 ENST00000325144 human ensembl 70_37 -1 known missense c.602 p.S201L 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ZFHX3 463 genome.wustl.edu 37 16 72993679 72993679 + Silent SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 16 72993679 72993679 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.366 p.E122 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68221929 68221929 + Silent SNP G G A TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 14 68221929 68221929 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.6825 p.F2275 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZMYND11 10771 genome.wustl.edu 37 10 286010 286010 + Missense_Mutation SNP G G T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 10 286010 286010 G T SNP ZMYND11 ENST00000381591 human ensembl 70_37 +1 known missense c.712 p.A238S 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ZNF581 51545 genome.wustl.edu 37 19 56156266 56156266 + Missense_Mutation SNP C C G TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 19 56156266 56156266 C G SNP ZNF581 ENST00000270451 human ensembl 70_37 +1 known missense c.329 p.S110W 0.988 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF581 HGNC ZNF711 7552 genome.wustl.edu 37 X 84526709 84526709 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a6f9f51-18bc-450a-84a6-c29dc780ab8e 46278bf9-39e9-4f56-9f38-eb1d0fec4168 X 84526709 84526709 C T SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known nonsense c.2185 p.R729* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC