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 ABCB4 5244 genome.wustl.edu 37 7 87032462 87032462 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 87032462 87032462 C T SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known missense c.3643 p.E1215K 1.000 pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ABCC3 8714 genome.wustl.edu 37 17 48738374 48738374 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 48738374 48738374 C G SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.897 p.F299L 0.998 superfamily_ABC_transptrTM_dom_typ1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ABCC3 8714 genome.wustl.edu 37 17 48738473 48738473 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 48738473 48738473 C G SNP ABCC3 ENST00000502426 human ensembl 70_37 +1 known missense c.1051 p.Q351E 1.000 NULL NULL - no_errors ABCC3 HGNC ABCC3 8714 genome.wustl.edu 37 17 48745145 48745145 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 48745145 48745145 C T SNP ABCC3 ENST00000427699 human ensembl 70_37 +1 known silent c.1662 p.P554 0.000 NULL pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 - no_errors ABCC3 HGNC ABCD1 215 genome.wustl.edu 37 X 152995018 152995018 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 152995018 152995018 G A SNP ABCD1 ENST00000370129 human ensembl 70_37 +1 known missense c.677 p.R226K 0.000 NULL pfam_ABC_Ald_N - no_errors ABCD1 HGNC ACACA 31 genome.wustl.edu 37 17 35453990 35453990 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 35453990 35453990 C G SNP ACACA ENST00000353139 human ensembl 70_37 -1 known missense c.6832 p.D2278H 0.001 NULL 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 ACTR1A 10121 genome.wustl.edu 37 10 104243919 104243919 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 104243919 104243919 C G SNP ACTR1A ENST00000369905 human ensembl 70_37 -1 known missense c.655 p.E219Q 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1A HGNC ADAM7 8756 genome.wustl.edu 37 8 24324484 24324484 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 24324484 24324484 G A SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known missense c.562 p.E188K 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18574130 18574130 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 18574130 18574130 G A SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known missense c.340 p.D114N 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ADARB2 105 genome.wustl.edu 37 10 1246280 1246280 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 1246280 1246280 G A SNP ADARB2 ENST00000381310 human ensembl 70_37 -1 known missense c.17 p.P6L 0.000 smart_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADARB2 HGNC ADCY9 115 genome.wustl.edu 37 16 4163953 4163953 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 4163953 4163953 G A SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known silent c.1491 p.C497 0.993 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC AGXT 189 genome.wustl.edu 37 2 241808657 241808657 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 241808657 241808657 C G SNP AGXT ENST00000307503 human ensembl 70_37 +1 known missense c.236 p.S79C 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT HGNC AIRE 326 genome.wustl.edu 37 21 45711046 45711046 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 45711046 45711046 G T SNP AIRE ENST00000291582 human ensembl 70_37 +1 known silent c.948 p.R316 0.779 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC AK3 50808 genome.wustl.edu 37 9 4741035 4741035 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 4741035 4741035 G C SNP AK3 ENST00000381809 human ensembl 70_37 -1 known missense c.53 p.S18W 1.000 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ALDH2 217 genome.wustl.edu 37 12 112230491 112230491 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 112230491 112230491 G A SNP ALDH2 ENST00000261733 human ensembl 70_37 +1 known missense c.988 p.D330N 0.939 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ALPK2 115701 genome.wustl.edu 37 18 56203437 56203437 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 56203437 56203437 G C SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.3982 p.L1328V 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC AMBRA1 55626 genome.wustl.edu 37 11 46529873 46529873 + Nonsense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 46529873 46529873 G C SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known nonsense c.2207 p.S736* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC APAF1 317 genome.wustl.edu 37 12 99042552 99042552 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 99042552 99042552 C T SNP APAF1 ENST00000551964 human ensembl 70_37 +1 known missense c.287 p.S96F 0.501 pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC APH1A 51107 genome.wustl.edu 37 1 150241120 150241120 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 150241120 150241120 G A SNP APH1A ENST00000369109 human ensembl 70_37 -1 known missense c.91 p.R31C 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC APOH 350 genome.wustl.edu 37 17 64216821 64216821 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 64216821 64216821 G A SNP APOH ENST00000205948 human ensembl 70_37 -1 known missense c.455 p.T152I 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ARHGAP1 392 genome.wustl.edu 37 11 46703639 46703639 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 46703639 46703639 G T SNP ARHGAP1 ENST00000311956 human ensembl 70_37 -1 known silent c.411 p.L137 0.995 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ARHGAP23 57636 genome.wustl.edu 37 17 36656838 36656838 + Splice_Site SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 36656838 36656838 G C SNP ARHGAP23 ENST00000431231 human ensembl 70_37 +1 known splice_site c.3416-1 e23-1 1.000 - - - no_errors ARHGAP23 HGNC ARHGAP4 393 genome.wustl.edu 37 X 153176611 153176611 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 153176611 153176611 C G SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known missense c.1575 p.E525D 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ARHGDIA 396 genome.wustl.edu 37 17 79827732 79827732 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 79827732 79827732 G C SNP ARHGDIA ENST00000269321 human ensembl 70_37 -1 known silent c.75 p.V25 0.996 pfam_Rho_GDI,superfamily_Ig_E-set pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ARHGEF10 9639 genome.wustl.edu 37 8 1876769 1876769 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 1876769 1876769 G A SNP ARHGEF10 ENST00000398564 human ensembl 70_37 +1 known silent c.2949 p.V983 0.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ASB2 51676 genome.wustl.edu 37 14 94405849 94405849 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 94405849 94405849 C T SNP ASB2 ENST00000315988 human ensembl 70_37 -1 known missense c.1078 p.E360K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ASH1L 55870 genome.wustl.edu 37 1 155448847 155448847 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 155448847 155448847 G A SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.3814 p.R1272W 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ATF4 468 genome.wustl.edu 37 22 39917981 39917981 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 39917981 39917981 C G SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known missense c.430 p.L144V 0.689 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ATF5 22809 genome.wustl.edu 37 19 50436077 50436077 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 50436077 50436077 C G SNP ATF5 ENST00000423777 human ensembl 70_37 +1 known missense c.577 p.Q193E 0.046 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC BCOR 54880 genome.wustl.edu 37 X 39934233 39934233 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 39934233 39934233 C T SNP BCOR ENST00000378444 human ensembl 70_37 -1 known missense c.366 p.M122I 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BPIFB2 80341 genome.wustl.edu 37 20 31609533 31609533 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 31609533 31609533 C G SNP BPIFB2 ENST00000170150 human ensembl 70_37 +1 known silent c.1263 p.L421 0.998 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC BRD7 29117 genome.wustl.edu 37 16 50353805 50353805 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 50353805 50353805 C G SNP BRD7 ENST00000394689 human ensembl 70_37 -1 known missense c.1896 p.L632F 0.996 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD7 HGNC C10orf88 80007 genome.wustl.edu 37 10 124692001 124692001 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 124692001 124692001 G C SNP C10orf88 ENST00000481909 human ensembl 70_37 -1 known missense c.1280 p.T427S 0.000 NULL NULL - no_errors C10orf88 HGNC C11orf42 160298 genome.wustl.edu 37 11 6231275 6231275 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 6231275 6231275 G C SNP C11orf42 ENST00000316375 human ensembl 70_37 +1 known missense c.268 p.E90Q 1.000 NULL NULL - no_errors C11orf42 HGNC C12orf55 144535 genome.wustl.edu 37 12 97137268 97137268 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 97137268 97137268 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.2583 p.F861L 0.953 NULL NULL - no_errors C12orf55 HGNC C14orf159 80017 genome.wustl.edu 37 14 91671151 91671151 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 91671151 91671151 G A SNP C14orf159 ENST00000256324 human ensembl 70_37 +1 known missense c.1546 p.D516N 1.000 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC C19orf71 100128569 genome.wustl.edu 37 19 3543237 3543237 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 3543237 3543237 G C SNP C19orf71 ENST00000329493 human ensembl 70_37 +1 known missense c.88 p.D30H 0.934 NULL NULL - no_errors C19orf71 HGNC C2CD3 26005 genome.wustl.edu 37 11 73850738 73850738 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 73850738 73850738 G C SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.619 p.Q207E 0.090 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC C9orf139 401563 genome.wustl.edu 37 9 139929272 139929272 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 139929272 139929272 G C SNP C9orf139 ENST00000314330 human ensembl 70_37 +1 known missense c.339 p.L113F 0.000 NULL NULL - no_errors C9orf139 HGNC C9orf139 401563 genome.wustl.edu 37 9 139929414 139929414 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 139929414 139929414 G C SNP C9orf139 ENST00000314330 human ensembl 70_37 +1 known missense c.481 p.E161Q 0.003 NULL NULL - no_errors C9orf139 HGNC CACNA1I 8911 genome.wustl.edu 37 22 40061888 40061888 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 40061888 40061888 C G SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known silent c.3999 p.L1333 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC CAMSAP2 23271 genome.wustl.edu 37 1 200827096 200827096 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 200827096 200827096 C G SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.4379 p.S1460C 1.000 pfam_CKK_domain,superfamily_PRC_barrell-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC CAPN3 825 genome.wustl.edu 37 15 42684915 42684915 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 42684915 42684915 G C SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known missense c.1024 p.D342H 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC CASP16 197350 genome.wustl.edu 37 16 3194554 3194554 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 3194554 3194554 G A SNP CASP16 ENST00000571356 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CASP16 HGNC CASP5 838 genome.wustl.edu 37 11 104879737 104879737 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 104879737 104879737 C T SNP CASP5 ENST00000393141 human ensembl 70_37 -1 known missense c.17 p.R6K 0.000 NULL pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP5 HGNC CCDC88A 55704 genome.wustl.edu 37 2 55544930 55544930 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 55544930 55544930 C G SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.3372 p.Q1124H 1.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC CCR4 1233 genome.wustl.edu 37 3 32995016 32995016 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 32995016 32995016 C G SNP CCR4 ENST00000330953 human ensembl 70_37 +1 known missense c.102 p.I34M 0.955 prints_Chemokine_CCR4,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC CD1A 909 genome.wustl.edu 37 1 158227233 158227233 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 158227233 158227233 C G SNP CD1A ENST00000289429 human ensembl 70_37 +1 known missense c.906 p.F302L 0.003 NULL pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1A HGNC CD40 958 genome.wustl.edu 37 20 44756862 44756862 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 44756862 44756862 C T SNP CD40 ENST00000372276 human ensembl 70_37 +1 known nonsense c.583 p.Q195* 0.022 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt - no_errors CD40 HGNC CELF2 10659 genome.wustl.edu 37 10 11308601 11308601 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 11308601 11308601 G A SNP CELF2 ENST00000450189 human ensembl 70_37 +1 known silent c.579 p.Q193 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 CENPJ 55835 genome.wustl.edu 37 13 25458528 25458528 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 13 25458528 25458528 T C SNP CENPJ ENST00000381884 human ensembl 70_37 -1 known missense c.3551 p.D1184G 1.000 pfam_Tcp10_C_dom pfam_Tcp10_C_dom - no_errors CENPJ HGNC CFI 3426 genome.wustl.edu 37 4 110678930 110678930 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 110678930 110678930 G A SNP CFI ENST00000394634 human ensembl 70_37 -1 known missense c.893 p.S298F 0.000 superfamily_LDrepeatLR_classA_rpt pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFI HGNC CHI3L1 1116 genome.wustl.edu 37 1 203152837 203152837 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 203152837 203152837 C G SNP CHI3L1 ENST00000255409 human ensembl 70_37 -1 known missense c.397 p.D133H 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC CHL1 10752 genome.wustl.edu 37 3 425540 425540 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 425540 425540 C G SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known missense c.2218 p.Q740E 1.000 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 CHL1 HGNC CLDN2 9075 genome.wustl.edu 37 X 106171764 106171764 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 106171764 106171764 G C SNP CLDN2 ENST00000336803 human ensembl 70_37 +1 known missense c.306 p.M102I 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC CNTRL 11064 genome.wustl.edu 37 9 123917162 123917162 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 123917162 123917162 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.4336 p.E1446K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COA4 51287 genome.wustl.edu 37 11 73584276 73584276 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 73584276 73584276 C T SNP COA4 ENST00000541455 human ensembl 70_37 -1 known missense c.175 p.D59N 1.000 NULL NULL - no_errors COA4 HGNC COIL 8161 genome.wustl.edu 37 17 55027619 55027619 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 55027619 55027619 C G SNP COIL ENST00000240316 human ensembl 70_37 -1 known missense c.984 p.L328F 0.000 NULL NULL - no_errors COIL HGNC COIL 8161 genome.wustl.edu 37 17 55028230 55028230 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 55028230 55028230 C G SNP COIL ENST00000240316 human ensembl 70_37 -1 known missense c.373 p.D125H 0.002 NULL NULL - no_errors COIL HGNC COL11A2 1302 genome.wustl.edu 37 6 33151975 33151975 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 33151975 33151975 C G SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known missense c.1066 p.E356Q 0.995 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC COL13A1 1305 genome.wustl.edu 37 10 71712663 71712663 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 71712663 71712663 G C SNP COL13A1 ENST00000356340 human ensembl 70_37 +1 known missense c.2051 p.R684T 1.000 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC COMMD7 149951 genome.wustl.edu 37 20 31294509 31294509 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 31294509 31294509 G C SNP COMMD7 ENST00000278980 human ensembl 70_37 -1 known missense c.295 p.L99V 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC CPQ 10404 genome.wustl.edu 37 8 97847330 97847330 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 97847330 97847330 C T SNP CPQ ENST00000220763 human ensembl 70_37 +1 known missense c.563 p.T188M 0.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC CRB1 23418 genome.wustl.edu 37 1 197297588 197297588 + Nonsense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 197297588 197297588 C G SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known nonsense c.107 p.S36* 0.849 smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC CROT 54677 genome.wustl.edu 37 7 87022120 87022120 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 87022120 87022120 G T SNP CROT ENST00000331536 human ensembl 70_37 +1 known missense c.1579 p.D527Y 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC CRYGD 1421 genome.wustl.edu 37 2 208986568 208986568 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 208986568 208986568 G A SNP CRYGD ENST00000264376 human ensembl 70_37 -1 known silent c.354 p.F118 0.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC CSE1L 1434 genome.wustl.edu 37 20 47701908 47701908 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 47701908 47701908 G A SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known missense c.1708 p.E570K 1.000 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC CSTF2 1478 genome.wustl.edu 37 X 100087788 100087788 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 100087788 100087788 G T SNP CSTF2 ENST00000415585 human ensembl 70_37 +1 known missense c.1157 p.G386V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC CTC1 80169 genome.wustl.edu 37 17 8135226 8135226 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 8135226 8135226 G T SNP CTC1 ENST00000315684 human ensembl 70_37 -1 known missense c.2380 p.Q794K 0.617 NULL NULL - no_errors CTC1 HGNC CUL4B 8450 genome.wustl.edu 37 X 119678348 119678348 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 119678348 119678348 C G SNP CUL4B ENST00000404115 human ensembl 70_37 -1 known silent c.1125 p.L375 0.051 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC CXCR6 10663 genome.wustl.edu 37 3 45988864 45988864 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 45988864 45988864 G C SNP CXCR6 ENST00000304552 human ensembl 70_37 +1 known missense c.891 p.K297N 0.962 pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR6 HGNC DAB2 1601 genome.wustl.edu 37 5 39382892 39382892 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 39382892 39382892 G C SNP DAB2 ENST00000320816 human ensembl 70_37 -1 known missense c.1169 p.S390C 0.986 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB2 HGNC DDX53 168400 genome.wustl.edu 37 X 23019162 23019162 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 23019162 23019162 T C SNP DDX53 ENST00000327968 human ensembl 70_37 +1 known missense c.988 p.Y330H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC DGAT2 84649 genome.wustl.edu 37 11 75480139 75480139 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 75480139 75480139 G C SNP DGAT2 ENST00000228027 human ensembl 70_37 +1 known missense c.103 p.E35Q 0.001 NULL pfam_DAGAT - no_errors DGAT2 HGNC DNAH2 146754 genome.wustl.edu 37 17 7681472 7681472 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 7681472 7681472 G T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known silent c.5325 p.R1775 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAH3 55567 genome.wustl.edu 37 16 21071588 21071588 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 21071588 21071588 G C SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.3810 p.V1270 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAJC4 3338 genome.wustl.edu 37 11 64001629 64001629 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 64001629 64001629 G T SNP DNAJC4 ENST00000321685 human ensembl 70_37 +1 known missense c.699 p.E233D 0.002 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC4 HGNC DPY19L3 147991 genome.wustl.edu 37 19 32973040 32973040 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 32973040 32973040 G A SNP DPY19L3 ENST00000342179 human ensembl 70_37 +1 known missense c.2045 p.R682H 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC DSG1 1828 genome.wustl.edu 37 18 28926069 28926069 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 28926069 28926069 C G SNP DSG1 ENST00000257192 human ensembl 70_37 +1 known missense c.2008 p.Q670E 0.999 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin - no_errors DSG1 HGNC DST 667 genome.wustl.edu 37 6 56472808 56472808 + Missense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 56472808 56472808 C A SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.6519 p.M2173I 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC EBNA1BP2 10969 genome.wustl.edu 37 1 43636553 43636553 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 43636553 43636553 G C SNP EBNA1BP2 ENST00000463906 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors EBNA1BP2 HGNC EEF2K 29904 genome.wustl.edu 37 16 22260107 22260107 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 22260107 22260107 G C SNP EEF2K ENST00000263026 human ensembl 70_37 +1 known missense c.379 p.D127H 1.000 superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC EHD1 10938 genome.wustl.edu 37 11 64627690 64627690 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 64627690 64627690 C T SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known silent c.621 p.L207 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC EIF1 10209 genome.wustl.edu 37 17 39845183 39845183 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39845183 39845183 G A SNP EIF1 ENST00000310837 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors EIF1 HGNC EIF1 10209 genome.wustl.edu 37 17 39845441 39845441 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39845441 39845441 G T SNP EIF1 ENST00000469308 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors EIF1 HGNC EIF1 10209 genome.wustl.edu 37 17 39847105 39847105 + RNA SNP T T A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39847105 39847105 T A SNP EIF1 ENST00000310837 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC EIF1 10209 genome.wustl.edu 37 17 39847106 39847106 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39847106 39847106 G A SNP EIF1 ENST00000310837 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC EIF1 10209 genome.wustl.edu 37 17 39847266 39847266 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39847266 39847266 G T SNP EIF1 ENST00000310837 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC EIF2B2 8892 genome.wustl.edu 37 14 75471472 75471472 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 75471472 75471472 C G SNP EIF2B2 ENST00000266126 human ensembl 70_37 +1 known missense c.466 p.L156V 0.989 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000183154 0 genome.wustl.edu 37 8 37593486 37593487 + Frame_Shift_Ins INS - - A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 37593486 37593487 - A INS ENSG00000183154 ENST00000330539 human ensembl 70_37 -1 putative frame_shift_ins c.530_529 p.S177fs 0.000:0.002 NULL NULL - no_errors RP11-863K10.7 Clone_based_vega_gene ENSG00000222033 0 genome.wustl.edu 37 2 171570153 171570153 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 171570153 171570153 C G SNP ENSG00000222033 ENST00000409786 human ensembl 70_37 -1 novel missense c.801 p.Q267H 0.000 NULL NULL - no_errors AC007405.2 Clone_based_vega_gene ENSG00000225760 0 genome.wustl.edu 37 13 111642339 111642339 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 13 111642339 111642339 C T SNP ENSG00000225760 ENST00000440735 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-365P13.3 Clone_based_vega_gene ENSG00000232274 0 genome.wustl.edu 37 1 143189128 143189128 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 143189128 143189128 G A SNP ENSG00000232274 ENST00000447389 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232283 0 genome.wustl.edu 37 9 99012011 99012011 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 99012011 99012011 C T SNP ENSG00000232283 ENST00000448857 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-240L7.4 Clone_based_vega_gene ENSG00000234665 0 genome.wustl.edu 37 9 66513551 66513551 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 66513551 66513551 G C SNP ENSG00000234665 ENST00000586625 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000236299 0 genome.wustl.edu 37 7 63353608 63353608 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 63353608 63353608 G C SNP ENSG00000236299 ENST00000433918 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-340I6.7 Clone_based_vega_gene ENSG00000240338 0 genome.wustl.edu 37 16 75260587 75260587 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 75260587 75260587 G A SNP ENSG00000240338 ENST00000489723 human ensembl 70_37 +1 known rna NULL NULL 0.027 - - - no_errors RP11-331F4.4 Clone_based_vega_gene ENSG00000242959 0 genome.wustl.edu 37 1 120144049 120144049 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 120144049 120144049 G A SNP ENSG00000242959 ENST00000450675 human ensembl 70_37 +1 putative rna NULL NULL 0.791 - - - no_errors RP4-599G15.3 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41533715 41533715 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 41533715 41533715 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.1681 p.Q561* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EPB41L3 23136 genome.wustl.edu 37 18 5416294 5416294 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 5416294 5416294 C T SNP EPB41L3 ENST00000341928 human ensembl 70_37 -1 known silent c.1590 p.R530 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41L3 HGNC EZH1 2145 genome.wustl.edu 37 17 40880971 40880971 + Splice_Site SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 40880971 40880971 C G SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.010 - - - no_errors EZH1 HGNC FAM184A 79632 genome.wustl.edu 37 6 119345270 119345270 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 119345270 119345270 C G SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known missense c.868 p.E290Q 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC FAM189A1 23359 genome.wustl.edu 37 15 29443942 29443942 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 29443942 29443942 G A SNP FAM189A1 ENST00000261275 human ensembl 70_37 -1 known nonsense c.625 p.Q209* 1.000 NULL pfam_CD20-like - no_errors FAM189A1 HGNC FAM27E3 100131997 genome.wustl.edu 37 9 67786101 67786101 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 67786101 67786101 C T SNP FAM27E3 ENST00000455764 human ensembl 70_37 -1 known missense c.154 p.A52T 0.004 NULL NULL - no_errors FAM27E3 HGNC RMDN2 151393 genome.wustl.edu 37 2 38208440 38208440 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 38208440 38208440 G A SNP FAM82A1 ENST00000234195 human ensembl 70_37 +1 known missense c.1279 p.E427K 1.000 NULL NULL - no_errors FAM82A1 HGNC FBN2 2201 genome.wustl.edu 37 5 127627276 127627276 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 127627276 127627276 G C SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.6237 p.F2079L 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FBXO22 26263 genome.wustl.edu 37 15 76209603 76209603 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 76209603 76209603 C T SNP FBXO22 ENST00000308275 human ensembl 70_37 +1 known nonsense c.496 p.Q166* 1.000 NULL pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO22 HGNC FCHSD2 9873 genome.wustl.edu 37 11 72551993 72551993 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 72551993 72551993 G A SNP FCHSD2 ENST00000409418 human ensembl 70_37 -1 known missense c.2068 p.H690Y 0.017 NULL pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC FGF8 2253 genome.wustl.edu 37 10 103534606 103534606 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 103534606 103534606 G A SNP FGF8 ENST00000320185 human ensembl 70_37 -1 known nonsense c.220 p.Q74* 1.000 superfamily_Cytokine_IL1-like pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF8 HGNC FLII 2314 genome.wustl.edu 37 17 18150641 18150641 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 18150641 18150641 C T SNP FLII ENST00000327031 human ensembl 70_37 -1 known missense c.2518 p.D840N 0.998 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC FNBP1 23048 genome.wustl.edu 37 9 132665171 132665171 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 132665171 132665171 G A SNP FNBP1 ENST00000372416 human ensembl 70_37 -1 known nonsense c.1405 p.R469* 0.866 superfamily_HR1_rho-bd pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1 HGNC FRA10AC1 118924 genome.wustl.edu 37 10 95451844 95451844 + Missense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 95451844 95451844 C A SNP FRA10AC1 ENST00000359204 human ensembl 70_37 -1 known missense c.387 p.K129N 1.000 pfam_Folate-sensitive_fs_Fra10Ac1 pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC FUCA2 2519 genome.wustl.edu 37 6 143825369 143825369 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 143825369 143825369 C G SNP FUCA2 ENST00000002165 human ensembl 70_37 -1 known missense c.433 p.E145Q 0.197 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC FYN 2534 genome.wustl.edu 37 6 112025271 112025271 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 112025271 112025271 C T SNP FYN ENST00000354650 human ensembl 70_37 -1 known missense c.478 p.E160K 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC GAD1 2571 genome.wustl.edu 37 2 171675139 171675139 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 171675139 171675139 C G SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known missense c.38 p.S13W 1.000 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC GAS2L2 246176 genome.wustl.edu 37 17 34072333 34072333 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 34072333 34072333 G C SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known missense c.2183 p.S728W 0.641 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC GBA2 57704 genome.wustl.edu 37 9 35748398 35748398 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 35748398 35748398 G C SNP GBA2 ENST00000545786 human ensembl 70_37 -1 known missense c.304 p.Q102E 0.999 pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC GDA 9615 genome.wustl.edu 37 9 74817635 74817635 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 74817635 74817635 G A SNP GDA ENST00000238018 human ensembl 70_37 +1 known missense c.361 p.E121K 0.997 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC GIPR 2696 genome.wustl.edu 37 19 46174547 46174547 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 46174547 46174547 C T SNP GIPR ENST00000590918 human ensembl 70_37 +1 known silent c.177 p.L59 0.997 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC GNA15 2769 genome.wustl.edu 37 19 3162874 3162874 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 3162874 3162874 G A SNP GNA15 ENST00000262958 human ensembl 70_37 +1 known missense c.982 p.E328K 0.015 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC GPR101 83550 genome.wustl.edu 37 X 136113039 136113039 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 136113039 136113039 C T SNP GPR101 ENST00000298110 human ensembl 70_37 -1 known silent c.795 p.Q265 0.404 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC GPR115 221393 genome.wustl.edu 37 6 47680153 47680153 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 47680153 47680153 G T SNP GPR115 ENST00000371220 human ensembl 70_37 +1 known missense c.532 p.D178Y 0.322 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC GPR144 347088 genome.wustl.edu 37 9 127217404 127217404 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 127217404 127217404 G A SNP GPR144 ENST00000334810 human ensembl 70_37 +1 known missense c.1447 p.E483K 0.017 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC GPR56 9289 genome.wustl.edu 37 16 57687930 57687930 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 57687930 57687930 C T SNP GPR56 ENST00000379696 human ensembl 70_37 +1 known missense c.653 p.S218F 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like - no_errors GPR56 HGNC GPR64 10149 genome.wustl.edu 37 X 19024193 19024193 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 19024193 19024193 C T SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.1766 p.C589Y 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC GPR98 84059 genome.wustl.edu 37 5 89940535 89940535 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 89940535 89940535 T C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.2747 p.V916A 0.440 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPRASP1 9737 genome.wustl.edu 37 X 101911353 101911353 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 101911353 101911353 G C SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.2512 p.E838Q 0.910 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC GRIK4 2900 genome.wustl.edu 37 11 120831691 120831691 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 120831691 120831691 G C SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known missense c.1948 p.D650H 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_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 GRIK4 HGNC GRK5 2869 genome.wustl.edu 37 10 121196337 121196337 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 121196337 121196337 G C SNP GRK5 ENST00000392870 human ensembl 70_37 +1 known missense c.913 p.E305Q 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK5 HGNC GTPBP4 23560 genome.wustl.edu 37 10 1042198 1042198 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 1042198 1042198 C T SNP GTPBP4 ENST00000491635 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GTPBP4 HGNC GUCY2C 2984 genome.wustl.edu 37 12 14840906 14840906 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 14840906 14840906 G C SNP GUCY2C ENST00000261170 human ensembl 70_37 -1 known silent c.309 p.L103 0.006 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC GUSB 2990 genome.wustl.edu 37 7 65439567 65439567 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 65439567 65439567 T C SNP GUSB ENST00000304895 human ensembl 70_37 -1 known missense c.1190 p.D397G 1.000 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC HAP1 9001 genome.wustl.edu 37 17 39884506 39884506 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39884506 39884506 C T SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known missense c.1147 p.E383K 1.000 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC HAUS6 54801 genome.wustl.edu 37 9 19082873 19082873 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 19082873 19082873 G A SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known nonsense c.868 p.Q290* 0.988 NULL NULL - no_errors HAUS6 HGNC HCN2 610 genome.wustl.edu 37 19 608051 608051 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 608051 608051 G A SNP HCN2 ENST00000251287 human ensembl 70_37 +1 known missense c.1306 p.E436K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC MROH7 374977 genome.wustl.edu 37 1 55118859 55118859 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 55118859 55118859 G C SNP HEATR8 ENST00000421030 human ensembl 70_37 +1 known missense c.260 p.R87T 0.000 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC HECTD4 283450 genome.wustl.edu 37 12 112617099 112617099 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 112617099 112617099 C T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.10574 p.R3525K 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HERPUD1 9709 genome.wustl.edu 37 16 56966192 56966192 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 56966192 56966192 C G SNP HERPUD1 ENST00000439977 human ensembl 70_37 +1 known silent c.36 p.L12 0.083 smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC HERPUD1 9709 genome.wustl.edu 37 16 56966267 56966267 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 56966267 56966267 C G SNP HERPUD1 ENST00000439977 human ensembl 70_37 +1 known silent c.111 p.L37 1.000 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC HEY2 23493 genome.wustl.edu 37 6 126070928 126070928 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 126070928 126070928 G C SNP HEY2 ENST00000368364 human ensembl 70_37 +1 known missense c.6 p.K2N 1.000 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC HFM1 164045 genome.wustl.edu 37 1 91727882 91727882 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 91727882 91727882 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.4154 p.S1385F 0.004 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HIST1H1B 3009 genome.wustl.edu 37 6 27834714 27834714 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 27834714 27834714 C T SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known silent c.594 p.P198 0.208 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC HIST1H2AE 3012 genome.wustl.edu 37 6 26217568 26217568 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 26217568 26217568 G A SNP HIST1H2AE ENST00000303910 human ensembl 70_37 +1 known silent c.366 p.E122 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC HIVEP1 3096 genome.wustl.edu 37 6 12123370 12123370 + Silent SNP A A G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 12123370 12123370 A G SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known silent c.3342 p.Q1114 0.010 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HMGB1P5 10354 genome.wustl.edu 37 3 22423655 22423655 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 22423655 22423655 G C SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC HNRNPA2B1 3181 genome.wustl.edu 37 7 26230678 26230678 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 26230678 26230678 C T SNP HNRNPA2B1 ENST00000476233 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPA2B1 HGNC HOXB6 3216 genome.wustl.edu 37 17 46674028 46674028 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 46674028 46674028 G A SNP HOXB6 ENST00000225648 human ensembl 70_37 -1 known missense c.422 p.S141F 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB6 HGNC HOXC8 3224 genome.wustl.edu 37 12 54403491 54403491 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 54403491 54403491 G A SNP HOXC8 ENST00000040584 human ensembl 70_37 +1 known nonsense c.423 p.W141* 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC HOXC9 3225 genome.wustl.edu 37 12 54396299 54396299 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 54396299 54396299 G A SNP HOXC9 ENST00000303450 human ensembl 70_37 +1 known silent c.624 p.E208 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC9 HGNC HRNR 388697 genome.wustl.edu 37 1 152192729 152192729 + Nonsense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 152192729 152192729 G C SNP HRNR ENST00000368801 human ensembl 70_37 -1 known nonsense c.1376 p.S459* 0.011 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HSPA8 3312 genome.wustl.edu 37 11 122928447 122928447 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 122928447 122928447 C G SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.1936 p.D646H 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ICK 22858 genome.wustl.edu 37 6 52902788 52902788 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 52902788 52902788 C T SNP ICK ENST00000350082 human ensembl 70_37 -1 known missense c.105 p.M35I 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,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 ICK HGNC IFT46 56912 genome.wustl.edu 37 11 118415714 118415714 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 118415714 118415714 G C SNP IFT46 ENST00000264020 human ensembl 70_37 -1 known missense c.985 p.L329V 0.998 NULL pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC INTS2 57508 genome.wustl.edu 37 17 59968993 59968993 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 59968993 59968993 G C SNP INTS2 ENST00000444766 human ensembl 70_37 -1 known missense c.1780 p.P594A 1.000 NULL NULL - no_errors INTS2 HGNC KANK1 23189 genome.wustl.edu 37 9 745829 745829 + RNA SNP T T G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 745829 745829 T G SNP KANK1 ENST00000489369 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KANK1 HGNC KANSL2 54934 genome.wustl.edu 37 12 49072853 49072853 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 49072853 49072853 C T SNP KANSL2 ENST00000420613 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 NULL NULL - no_errors KANSL2 HGNC KCNJ12 3768 genome.wustl.edu 37 17 21319480 21319480 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 21319480 21319480 G A SNP KCNJ12 ENST00000331718 human ensembl 70_37 +1 known missense c.826 p.E276K 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC KCNJ4 3761 genome.wustl.edu 37 22 38822988 38822988 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 38822988 38822988 C T SNP KCNJ4 ENST00000303592 human ensembl 70_37 -1 known missense c.1150 p.E384K 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 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_Kir2.3 - no_errors KCNJ4 HGNC KIF24 347240 genome.wustl.edu 37 9 34286656 34286656 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 34286656 34286656 G T SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known missense c.1174 p.L392M 0.998 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC KRAS 3845 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 25398285 25398285 C A SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.34 p.G12C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,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 KRAS HGNC KRT38 8687 genome.wustl.edu 37 17 39597089 39597089 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 39597089 39597089 C T SNP KRT38 ENST00000246646 human ensembl 70_37 -1 known missense c.85 p.D29N 0.001 NULL pfam_F,prints_Keratin_I - no_errors KRT38 HGNC KRT81 3887 genome.wustl.edu 37 12 52680187 52680187 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 52680187 52680187 C T SNP KRT81 ENST00000327741 human ensembl 70_37 -1 known missense c.1370 p.C457Y 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC KRT85 3891 genome.wustl.edu 37 12 52757068 52757068 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 52757068 52757068 G A SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known missense c.913 p.R305C 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC L3MBTL1 26013 genome.wustl.edu 37 20 42163413 42163413 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 42163413 42163413 G T SNP L3MBTL1 ENST00000483547 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors L3MBTL1 HGNC LGI3 203190 genome.wustl.edu 37 8 22009485 22009485 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 22009485 22009485 C G SNP LGI3 ENST00000306317 human ensembl 70_37 -1 known missense c.523 p.D175H 1.000 smart_Cys-rich_flank_reg_C pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC LINC00478 388815 genome.wustl.edu 37 21 17443607 17443607 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 17443607 17443607 G A SNP LINC00478 ENST00000400178 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00478 HGNC LMNA 4000 genome.wustl.edu 37 1 156105656 156105656 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 156105656 156105656 C T SNP LMNA ENST00000496738 human ensembl 70_37 +1 known rna NULL NULL 0.102 - - - no_errors LMNA HGNC LMTK2 22853 genome.wustl.edu 37 7 97823402 97823402 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 97823402 97823402 C T SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known missense c.3625 p.L1209F 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC LOC100271702 100271702 genome.wustl.edu 37 12 2039913 2039913 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 2039913 2039913 C T SNP LOC100271702 ENST00000418006 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP5-1096D14.2 Clone_based_vega_gene LOC100996516 100996516 genome.wustl.edu 37 1 150523407 150523407 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 150523407 150523407 C T SNP LOC100996516 ENST00000538795 human ensembl 70_37 +1 known silent c.336 p.L112 0.291 NULL NULL - no_errors AL356356.1 Clone_based_ensembl_gene LOC399829 399829 genome.wustl.edu 37 10 134788188 134788188 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 134788188 134788188 G A SNP LOC399829 ENST00000461291 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP13-137A17.6 Clone_based_vega_gene LONRF3 79836 genome.wustl.edu 37 X 118123583 118123583 + Nonsense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 118123583 118123583 C A SNP LONRF3 ENST00000371628 human ensembl 70_37 +1 known nonsense c.1272 p.C424* 0.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC LPHN2 23266 genome.wustl.edu 37 1 82408901 82408901 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 82408901 82408901 G A SNP LPHN2 ENST00000370717 human ensembl 70_37 +1 known missense c.646 p.D216N 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN2 HGNC LPIN1 23175 genome.wustl.edu 37 2 11945248 11945248 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 11945248 11945248 C T SNP LPIN1 ENST00000449576 human ensembl 70_37 +1 known nonsense c.2362 p.Q788* 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC LRCOL1 100507055 genome.wustl.edu 37 12 133181325 133181325 + RNA SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 133181325 133181325 C G SNP LRCOL1 ENST00000376608 human ensembl 70_37 -1 known rna NULL NULL 0.184 - - - no_errors LRCOL1 HGNC LRP4 4038 genome.wustl.edu 37 11 46896353 46896353 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 46896353 46896353 G C SNP LRP4 ENST00000378623 human ensembl 70_37 -1 known missense c.4227 p.I1409M 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP4 HGNC LRRC37A2 474170 genome.wustl.edu 37 17 44632680 44632680 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 44632680 44632680 C G SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known silent c.4944 p.L1648 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC LRRC37B 114659 genome.wustl.edu 37 17 30354813 30354813 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 30354813 30354813 G A SNP LRRC37B ENST00000341671 human ensembl 70_37 +1 known missense c.1777 p.E593K 0.962 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC LRRK1 79705 genome.wustl.edu 37 15 101523744 101523744 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 101523744 101523744 G A SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known silent c.273 p.L91 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC MACF1 23499 genome.wustl.edu 37 1 39910438 39910438 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 39910438 39910438 G C SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.13359 p.K4453N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MAP2 4133 genome.wustl.edu 37 2 210517948 210517948 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 210517948 210517948 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known silent c.54 p.P18 0.012 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAP3K14 9020 genome.wustl.edu 37 17 43341844 43341844 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 43341844 43341844 C T SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAP3K14 HGNC MAP7D1 55700 genome.wustl.edu 37 1 36636740 36636740 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 36636740 36636740 C T SNP MAP7D1 ENST00000373151 human ensembl 70_37 +1 known missense c.215 p.S72L 0.013 NULL pfam_E-MAP-115 - no_errors MAP7D1 HGNC MARCH4 57574 genome.wustl.edu 37 2 217234646 217234646 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 217234646 217234646 G A SNP MARCH4 ENST00000273067 human ensembl 70_37 -1 known missense c.338 p.S113F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC MARS 4141 genome.wustl.edu 37 12 57906036 57906036 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 57906036 57906036 C T SNP MARS ENST00000262027 human ensembl 70_37 +1 known silent c.1653 p.F551 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC MBD6 114785 genome.wustl.edu 37 12 57919450 57919450 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 57919450 57919450 C G SNP MBD6 ENST00000355673 human ensembl 70_37 +1 known silent c.699 p.L233 0.998 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC MED15 51586 genome.wustl.edu 37 22 20905774 20905774 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 20905774 20905774 C T SNP MED15 ENST00000263205 human ensembl 70_37 +1 known missense c.208 p.H70Y 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC MEP1A 4224 genome.wustl.edu 37 6 46806840 46806840 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 46806840 46806840 C G SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.2208 p.I736M 0.806 pirsf_Pept_M12A_Meprin pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC METTL21A 151194 genome.wustl.edu 37 2 208477923 208477923 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 208477923 208477923 C T SNP METTL21A ENST00000406927 human ensembl 70_37 -1 known silent c.504 p.V168 0.994 pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL21A HGNC MFHAS1 9258 genome.wustl.edu 37 8 8750098 8750098 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 8750098 8750098 G A SNP MFHAS1 ENST00000276282 human ensembl 70_37 -1 known silent c.471 p.L157 0.183 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC MGC45800 90768 genome.wustl.edu 37 4 183063759 183063759 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 183063759 183063759 G C SNP MGC45800 ENST00000315302 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC108142.1 Clone_based_vega_gene MGC45800 90768 genome.wustl.edu 37 4 183063783 183063783 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 183063783 183063783 G T SNP MGC45800 ENST00000315302 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors AC108142.1 Clone_based_vega_gene MIR4310 100423013 genome.wustl.edu 37 15 42158710 42158710 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 42158710 42158710 G A SNP MIR4310 ENST00000582950 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4310 HGNC KMT2E 55904 genome.wustl.edu 37 7 104753433 104753433 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 104753433 104753433 C T SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known missense c.5230 p.H1744Y 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13056 13056 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 MT 13056 13056 C T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.720 p.P240 NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MTTP 4547 genome.wustl.edu 37 4 100534168 100534168 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 100534168 100534168 C G SNP MTTP ENST00000265517 human ensembl 70_37 +1 known silent c.2088 p.L696 1.000 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC MUC12 10071 genome.wustl.edu 37 7 100647059 100647059 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 100647059 100647059 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known silent c.13644 p.L4548 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MYH2 4620 genome.wustl.edu 37 17 10440596 10440596 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 10440596 10440596 C T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.1851 p.M617I 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC MYNN 55892 genome.wustl.edu 37 3 169496595 169496595 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 169496595 169496595 C G SNP MYNN ENST00000349841 human ensembl 70_37 +1 known silent c.306 p.L102 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC MYO5A 4644 genome.wustl.edu 37 15 52697558 52697558 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 52697558 52697558 G A SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known nonsense c.979 p.R327* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC MYOM1 8736 genome.wustl.edu 37 18 3215001 3215001 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 3215001 3215001 G A SNP MYOM1 ENST00000356443 human ensembl 70_37 -1 known missense c.221 p.S74L 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC NAA60 79903 genome.wustl.edu 37 16 3526230 3526230 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 3526230 3526230 G A SNP NAA60 ENST00000407558 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC NASP 4678 genome.wustl.edu 37 1 46073046 46073046 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 46073046 46073046 G C SNP NASP ENST00000402363 human ensembl 70_37 +1 known missense c.469 p.E157Q 1.000 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC NAV2 89797 genome.wustl.edu 37 11 20070498 20070498 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 20070498 20070498 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.4196 p.S1399L 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC NAV2 89797 genome.wustl.edu 37 11 20070575 20070575 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 20070575 20070575 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known nonsense c.4273 p.Q1425* 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC NBPF20 100288142 genome.wustl.edu 37 1 148342507 148342507 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 148342507 148342507 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known missense c.529 p.E177Q 0.046 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC NDST2 8509 genome.wustl.edu 37 10 75567903 75567903 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 75567903 75567903 G A SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known nonsense c.244 p.R82* 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC NSMF 26012 genome.wustl.edu 37 9 140348844 140348844 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 140348844 140348844 C G SNP NELF ENST00000371475 human ensembl 70_37 -1 known missense c.831 p.Q277H 1.000 NULL NULL - no_errors NELF HGNC NFATC4 4776 genome.wustl.edu 37 14 24838969 24838969 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 24838969 24838969 C G SNP NFATC4 ENST00000413692 human ensembl 70_37 +1 known missense c.554 p.S185C 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC NFYA 4800 genome.wustl.edu 37 6 41065114 41065114 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 41065114 41065114 G A SNP NFYA ENST00000341376 human ensembl 70_37 +1 known missense c.1009 p.E337K 1.000 NULL pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB - no_errors NFYA HGNC NHS 4810 genome.wustl.edu 37 X 17746202 17746202 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 17746202 17746202 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known nonsense c.3913 p.Q1305* 0.014 NULL NULL - no_errors NHS HGNC NISCH 11188 genome.wustl.edu 37 3 52524094 52524094 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 52524094 52524094 G C SNP NISCH ENST00000345716 human ensembl 70_37 +1 known missense c.3460 p.E1154Q 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC NLRP7 199713 genome.wustl.edu 37 19 55452863 55452863 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 55452863 55452863 T C SNP NLRP7 ENST00000446217 human ensembl 70_37 -1 known missense c.301 p.N101D 0.000 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC NMRK1 54981 genome.wustl.edu 37 9 77676397 77676397 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 77676397 77676397 G A SNP NMRK1 ENST00000482537 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NMRK1 HGNC NOL6 65083 genome.wustl.edu 37 9 33466916 33466916 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 33466916 33466916 C G SNP NOL6 ENST00000297990 human ensembl 70_37 -1 known silent c.1944 p.L648 0.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC NPAS4 266743 genome.wustl.edu 37 11 66190194 66190194 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 66190194 66190194 G C SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.480 p.Q160H 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC NR1H3 10062 genome.wustl.edu 37 11 47283259 47283259 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 47283259 47283259 G A SNP NR1H3 ENST00000441012 human ensembl 70_37 +1 known silent c.870 p.L290 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC NR1H3 10062 genome.wustl.edu 37 11 47283301 47283301 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 47283301 47283301 G A SNP NR1H3 ENST00000481889 human ensembl 70_37 +1 putative missense c.777 p.M259I 0.180 smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H3 HGNC NRD1 4898 genome.wustl.edu 37 1 52264001 52264001 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 52264001 52264001 C G SNP NRD1 ENST00000354831 human ensembl 70_37 -1 known missense c.2728 p.E910Q 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors NRD1 HGNC NRIP2 83714 genome.wustl.edu 37 12 2937120 2937120 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 2937120 2937120 C T SNP NRIP2 ENST00000337508 human ensembl 70_37 -1 known silent c.672 p.E224 0.998 pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic - no_errors NRIP2 HGNC NSMAF 8439 genome.wustl.edu 37 8 59547876 59547876 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 59547876 59547876 C G SNP NSMAF ENST00000427130 human ensembl 70_37 -1 known missense c.377 p.R126T 0.935 NULL pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC NSUN3 63899 genome.wustl.edu 37 3 93813015 93813015 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 93813015 93813015 G C SNP NSUN3 ENST00000314622 human ensembl 70_37 +1 known silent c.498 p.L166 1.000 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC NSUN4 387338 genome.wustl.edu 37 1 46826421 46826421 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 46826421 46826421 G A SNP NSUN4 ENST00000474844 human ensembl 70_37 +1 known missense c.799 p.E267K 0.997 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN4 HGNC NUP205 23165 genome.wustl.edu 37 7 135282130 135282130 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 135282130 135282130 G A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.2028 p.V676 0.835 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC OBSCN 84033 genome.wustl.edu 37 1 228553871 228553871 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 228553871 228553871 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.19160 p.S6387L 0.003 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OR2AP1 121129 genome.wustl.edu 37 12 55968825 55968825 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 55968825 55968825 G A SNP OR2AP1 ENST00000321688 human ensembl 70_37 +1 known silent c.627 p.L209 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AP1 HGNC OR2T34 127068 genome.wustl.edu 37 1 248737384 248737384 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 248737384 248737384 G A SNP OR2T34 ENST00000328782 human ensembl 70_37 -1 known silent c.675 p.L225 0.000 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 OR2T34 HGNC OR4F4 26682 genome.wustl.edu 37 15 102462417 102462417 + Silent SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 102462417 102462417 C A SNP OR4F4 ENST00000326183 human ensembl 70_37 -1 known silent c.846 p.L282 0.984 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F4 HGNC OR5L1 219437 genome.wustl.edu 37 11 55579854 55579854 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 55579854 55579854 G C SNP OR5L1 ENST00000333973 human ensembl 70_37 +1 known silent c.912 p.V304 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC PAK6 56924 genome.wustl.edu 37 15 40565662 40565662 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 40565662 40565662 C T SNP PAK6 ENST00000260404 human ensembl 70_37 +1 known missense c.1606 p.L536F 0.015 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,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK6 HGNC PAPOLA 10914 genome.wustl.edu 37 14 97009200 97009200 + Nonsense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 97009200 97009200 C G SNP PAPOLA ENST00000216277 human ensembl 70_37 +1 known nonsense c.1259 p.S420* 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC PAX3 5077 genome.wustl.edu 37 2 223160330 223160330 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 223160330 223160330 C G SNP PAX3 ENST00000392069 human ensembl 70_37 -1 known missense c.368 p.R123T 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC PAX3 5077 genome.wustl.edu 37 2 223160343 223160343 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 223160343 223160343 C T SNP PAX3 ENST00000392069 human ensembl 70_37 -1 known missense c.355 p.E119K 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC PBRM1 55193 genome.wustl.edu 37 3 52668757 52668757 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 52668757 52668757 G A SNP PBRM1 ENST00000296302 human ensembl 70_37 -1 known nonsense c.1162 p.Q388* 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC PBRM1 55193 genome.wustl.edu 37 3 52668791 52668791 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 52668791 52668791 G C SNP PBRM1 ENST00000296302 human ensembl 70_37 -1 known missense c.1128 p.I376M 1.000 superfamily_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC PCDHB11 56125 genome.wustl.edu 37 5 140580506 140580506 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 140580506 140580506 G A SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.1159 p.E387K 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC PCDHB14 56122 genome.wustl.edu 37 5 140605043 140605043 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 140605043 140605043 G A SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.1966 p.A656T 0.609 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC PDE10A 10846 genome.wustl.edu 37 6 165848726 165848726 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 165848726 165848726 C T SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known missense c.536 p.G179E 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144915469 144915469 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 144915469 144915469 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.1956 p.V652 0.996 superfamily_ARM-type_fold pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDZK1 5174 genome.wustl.edu 37 1 145763595 145763595 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 145763595 145763595 C T SNP PDZK1 ENST00000344770 human ensembl 70_37 +1 known missense c.1532 p.S511F 0.948 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC PEX6 5190 genome.wustl.edu 37 6 42936212 42936212 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 42936212 42936212 C T SNP PEX6 ENST00000304611 human ensembl 70_37 -1 known missense c.1504 p.E502K 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC PI4KA 5297 genome.wustl.edu 37 22 21167759 21167759 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 21167759 21167759 C G SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known missense c.892 p.E298Q 0.993 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC PIGU 128869 genome.wustl.edu 37 20 33233093 33233093 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 33233093 33233093 C T SNP PIGU ENST00000217446 human ensembl 70_37 -1 known missense c.241 p.E81K 1.000 NULL pfam_PIG-U - no_errors PIGU HGNC PKD1 5310 genome.wustl.edu 37 16 2143682 2143682 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 2143682 2143682 C G SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.10879 p.D3627H 0.983 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PLEKHG1 57480 genome.wustl.edu 37 6 151055052 151055052 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 151055052 151055052 G A SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known missense c.235 p.A79T 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC PLEKHG4B 153478 genome.wustl.edu 37 5 155490 155490 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 155490 155490 G C SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known missense c.1072 p.E358Q 0.082 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC PLK3 1263 genome.wustl.edu 37 1 45270294 45270294 + RNA SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 45270294 45270294 C G SNP PLK3 ENST00000465443 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PLK3 HGNC PLK4 10733 genome.wustl.edu 37 4 128814468 128814468 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 128814468 128814468 C T SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known silent c.2217 p.F739 0.579 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC PLK4 10733 genome.wustl.edu 37 4 128814472 128814472 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 128814472 128814472 C T SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known nonsense c.2221 p.Q741* 0.996 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC PNLIPRP1 5407 genome.wustl.edu 37 10 118357673 118357673 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 118357673 118357673 G C SNP PNLIPRP1 ENST00000358834 human ensembl 70_37 +1 known missense c.809 p.W270S 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC PPP3CB 5532 genome.wustl.edu 37 10 75204553 75204553 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 75204553 75204553 G C SNP PPP3CB ENST00000394829 human ensembl 70_37 -1 known silent c.1299 p.L433 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC PRPF18 8559 genome.wustl.edu 37 10 13652056 13652056 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 13652056 13652056 G C SNP PRPF18 ENST00000378572 human ensembl 70_37 +1 known missense c.381 p.L127F 0.998 smart_SFM pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC PRPF8 10594 genome.wustl.edu 37 17 1556890 1556890 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 1556890 1556890 G A SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known silent c.6315 p.I2105 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC PRPF8 10594 genome.wustl.edu 37 17 1557268 1557268 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 1557268 1557268 G A SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known silent c.6030 p.I2010 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC PRRC2B 84726 genome.wustl.edu 37 9 134362574 134362574 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 134362574 134362574 C T SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known silent c.5877 p.I1959 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PSIP1 11168 genome.wustl.edu 37 9 15490010 15490010 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 15490010 15490010 G A SNP PSIP1 ENST00000380733 human ensembl 70_37 -1 known missense c.262 p.P88S 1.000 NULL pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP,prints_Treacle-like_TCS - no_errors PSIP1 HGNC PTPRB 5787 genome.wustl.edu 37 12 70956771 70956771 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 70956771 70956771 C G SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.4021 p.D1341H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC PTPRB 5787 genome.wustl.edu 37 12 70989914 70989914 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 70989914 70989914 G A SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known silent c.1173 p.L391 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC PTPRS 5802 genome.wustl.edu 37 19 5274291 5274291 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 5274291 5274291 G A SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known silent c.156 p.F52 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC PUS10 150962 genome.wustl.edu 37 2 61236108 61236108 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 61236108 61236108 C G SNP PUS10 ENST00000316752 human ensembl 70_37 -1 known missense c.169 p.D57H 0.996 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC QTRT1 81890 genome.wustl.edu 37 19 10823475 10823475 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 10823475 10823475 G A SNP QTRT1 ENST00000250237 human ensembl 70_37 +1 known silent c.903 p.L301 0.998 pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans - no_errors QTRT1 HGNC RABGEF1 27342 genome.wustl.edu 37 7 66274797 66274797 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 66274797 66274797 G C SNP RABGEF1 ENST00000484547 human ensembl 70_37 +1 known rna NULL NULL 0.071 - - - no_errors RABGEF1 HGNC RABL6 55684 genome.wustl.edu 37 9 139735412 139735412 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 139735412 139735412 G C SNP RABL6 ENST00000357466 human ensembl 70_37 +1 known missense c.1555 p.E519Q 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC RAD23B 5887 genome.wustl.edu 37 9 110087185 110087185 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 110087185 110087185 G C SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known missense c.1016 p.G339A 1.000 superfamily_XPC-bd,superfamily_UBA-like,tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC RADIL 55698 genome.wustl.edu 37 7 4917599 4917599 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 4917599 4917599 G A SNP RADIL ENST00000399583 human ensembl 70_37 -1 known nonsense c.172 p.Q58* 1.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC RALGAPA1 253959 genome.wustl.edu 37 14 36147177 36147177 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 36147177 36147177 G A SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.3226 p.L1076F 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC RASD1 51655 genome.wustl.edu 37 17 17399452 17399452 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 17399452 17399452 G C SNP RASD1 ENST00000225688 human ensembl 70_37 -1 known missense c.44 p.S15W 0.999 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RASD1 HGNC RASSF9 9182 genome.wustl.edu 37 12 86199213 86199213 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 86199213 86199213 G T SNP RASSF9 ENST00000361228 human ensembl 70_37 -1 known missense c.575 p.S192Y 1.000 NULL smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC RBMS1 5937 genome.wustl.edu 37 2 161130832 161130832 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 161130832 161130832 C T SNP RBMS1 ENST00000474820 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMS1 HGNC RMND5B 64777 genome.wustl.edu 37 5 177571073 177571073 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 177571073 177571073 C T SNP RMND5B ENST00000313386 human ensembl 70_37 +1 known missense c.658 p.R220W 0.992 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ROR1 4919 genome.wustl.edu 37 1 64644127 64644127 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 64644127 64644127 G C SNP ROR1 ENST00000371079 human ensembl 70_37 +1 known missense c.2403 p.Q801H 1.000 pirsf_Tyr_kinase_rcpt_ROR pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR1 HGNC RPTOR 57521 genome.wustl.edu 37 17 78518703 78518703 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 78518703 78518703 G C SNP RPTOR ENST00000577161 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPTOR HGNC RSPH10B2 728194 genome.wustl.edu 37 7 6820458 6820458 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 6820458 6820458 C T SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known silent c.1548 p.L516 0.989 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC RTKN2 219790 genome.wustl.edu 37 10 63944087 63944087 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 63944087 63944087 G T SNP RTKN2 ENST00000395265 human ensembl 70_37 -1 known missense c.1578 p.F526L 0.210 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC RUNX1 861 genome.wustl.edu 37 21 36228598 36228598 + RNA SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 36228598 36228598 C G SNP RUNX1 ENST00000467577 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RUNX1 HGNC SAMD5 389432 genome.wustl.edu 37 6 147830478 147830478 + Silent SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 147830478 147830478 C A SNP SAMD5 ENST00000367474 human ensembl 70_37 +1 known silent c.414 p.L138 0.977 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD5 HGNC SBNO1 55206 genome.wustl.edu 37 12 123813354 123813354 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 123813354 123813354 C G SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.1223 p.S408T 1.000 pfam_Helicase/UvrB_dom pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SBNO2 22904 genome.wustl.edu 37 19 1127732 1127732 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 1127732 1127732 G C SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.312 p.I104M 0.954 NULL NULL - no_errors SBNO2 HGNC SCARF2 91179 genome.wustl.edu 37 22 20786087 20786087 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 20786087 20786087 C G SNP SCARF2 ENST00000405555 human ensembl 70_37 -1 known silent c.279 p.V93 1.000 smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC SDC4 6385 genome.wustl.edu 37 20 43955982 43955982 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 43955982 43955982 C T SNP SDC4 ENST00000372733 human ensembl 70_37 -1 known silent c.519 p.K173 1.000 pfam_Syndecan,smart_Neurexin-like pfam_Syndecan,smart_Neurexin-like - no_errors SDC4 HGNC SEC31B 25956 genome.wustl.edu 37 10 102247537 102247537 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 102247537 102247537 C T SNP SEC31B ENST00000370345 human ensembl 70_37 -1 known missense c.3376 p.V1126M 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC SEC63 11231 genome.wustl.edu 37 6 108243115 108243116 + Splice_Site INS - - GGG TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 108243115 108243116 - GGG INS SEC63 ENST00000369002 human ensembl 70_37 -1 known splice_site_ins c.340-3_340-2 e4-2 1.000:0.980 - - - no_errors SEC63 HGNC SEL1L3 23231 genome.wustl.edu 37 4 25848925 25848925 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 25848925 25848925 G A SNP SEL1L3 ENST00000399878 human ensembl 70_37 -1 known silent c.724 p.L242 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC SETMAR 6419 genome.wustl.edu 37 3 4358139 4358139 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 4358139 4358139 G A SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.1264 p.E422K 0.525 pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC SEZ6L2 26470 genome.wustl.edu 37 16 29906726 29906726 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 29906726 29906726 C T SNP SEZ6L2 ENST00000308713 human ensembl 70_37 -1 known missense c.707 p.G236E 0.995 superfamily_CUB,smart_CUB,pfscan_CUB pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC SHF 90525 genome.wustl.edu 37 15 45467558 45467558 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 45467558 45467558 C T SNP SHF ENST00000318390 human ensembl 70_37 -1 known missense c.682 p.E228K 0.997 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHF HGNC SHOC2 8036 genome.wustl.edu 37 10 112724639 112724639 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 112724639 112724639 G A SNP SHOC2 ENST00000369452 human ensembl 70_37 +1 known missense c.523 p.D175N 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC SIDT1 54847 genome.wustl.edu 37 3 113345005 113345005 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 113345005 113345005 C T SNP SIDT1 ENST00000393830 human ensembl 70_37 +1 known silent c.2379 p.F793 0.999 NULL NULL - no_errors SIDT1 HGNC SIGLEC1 6614 genome.wustl.edu 37 20 3684082 3684082 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 3684082 3684082 C T SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known silent c.990 p.V330 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC SLC1A7 6512 genome.wustl.edu 37 1 53580588 53580588 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 53580588 53580588 G A SNP SLC1A7 ENST00000371494 human ensembl 70_37 -1 known silent c.273 p.L91 0.988 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC SLC26A11 284129 genome.wustl.edu 37 17 78222034 78222034 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 78222034 78222034 C G SNP SLC26A11 ENST00000361193 human ensembl 70_37 +1 known missense c.1400 p.S467C 0.014 superfamily_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC SLC26A3 1811 genome.wustl.edu 37 7 107434312 107434312 + Missense_Mutation SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 107434312 107434312 T C SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known missense c.146 p.K49R 0.998 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC SLC27A2 11001 genome.wustl.edu 37 15 50521170 50521170 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 50521170 50521170 G A SNP SLC27A2 ENST00000267842 human ensembl 70_37 +1 known missense c.1486 p.E496K 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC SLC44A3 126969 genome.wustl.edu 37 1 95332942 95332942 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 95332942 95332942 G A SNP SLC44A3 ENST00000271227 human ensembl 70_37 +1 known missense c.1451 p.C484Y 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC SMAP1 60682 genome.wustl.edu 37 6 71377740 71377740 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 71377740 71377740 C G SNP SMAP1 ENST00000370455 human ensembl 70_37 +1 known missense c.14 p.S5C 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC SNHG14 0 genome.wustl.edu 37 15 25456838 25456838 + RNA SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 25456838 25456838 T C SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SNHG14 HGNC SNRNP35 11066 genome.wustl.edu 37 12 123956417 123956417 + RNA SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 123956417 123956417 G A SNP SNRNP35 ENST00000527158 human ensembl 70_37 +1 known rna NULL NULL 0.806 - - - no_errors SNRNP35 HGNC SORL1 6653 genome.wustl.edu 37 11 121367720 121367720 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 121367720 121367720 C G SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.901 p.Q301E 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SOS1 6654 genome.wustl.edu 37 2 39224138 39224138 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 39224138 39224138 C T SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known silent c.3006 p.E1002 0.994 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC SPAG17 200162 genome.wustl.edu 37 1 118550795 118550795 + Missense_Mutation SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 118550795 118550795 G T SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.4459 p.Q1487K 1.000 NULL NULL - no_errors SPAG17 HGNC SPAG5 10615 genome.wustl.edu 37 17 26905054 26905054 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 26905054 26905054 C G SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.3484 p.D1162H 0.998 NULL NULL - no_errors SPAG5 HGNC SPAG5 10615 genome.wustl.edu 37 17 26913181 26913181 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 26913181 26913181 G C SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.1532 p.S511C 0.346 NULL NULL - no_errors SPAG5 HGNC SPAG5 10615 genome.wustl.edu 37 17 26919090 26919090 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 26919090 26919090 G A SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.1172 p.S391L 0.979 NULL NULL - no_errors SPAG5 HGNC SPAG5 10615 genome.wustl.edu 37 17 26919933 26919933 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 26919933 26919933 G C SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.329 p.S110C 0.999 NULL NULL - no_errors SPAG5 HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84606145 84606145 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 84606145 84606145 G A SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.760 p.E254K 0.001 NULL NULL - no_errors SPATA31D1 HGNC SPTBN5 51332 genome.wustl.edu 37 15 42179421 42179421 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 42179421 42179421 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.878 p.R293K 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SREK1 140890 genome.wustl.edu 37 5 65440340 65440340 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 5 65440340 65440340 G C SNP SREK1 ENST00000334121 human ensembl 70_37 +1 known missense c.136 p.E46Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC SRF 6722 genome.wustl.edu 37 6 43143632 43143632 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 43143632 43143632 G A SNP SRF ENST00000265354 human ensembl 70_37 +1 known silent c.969 p.L323 1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC SRSF5 6430 genome.wustl.edu 37 14 70235952 70235952 + Nonsense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 14 70235952 70235952 C G SNP SRSF5 ENST00000451983 human ensembl 70_37 +1 known nonsense c.350 p.S117* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ST5 6764 genome.wustl.edu 37 11 8718078 8718078 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 8718078 8718078 G A SNP ST5 ENST00000313726 human ensembl 70_37 -1 known missense c.3188 p.S1063F 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ST6GALNAC3 256435 genome.wustl.edu 37 1 76540566 76540566 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 76540566 76540566 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 70_37 +1 known silent c.15 p.L5 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC STARD9 57519 genome.wustl.edu 37 15 42983444 42983444 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 42983444 42983444 G C SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.9668 p.G3223A 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC STAT4 6775 genome.wustl.edu 37 2 191922763 191922763 + Nonsense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 191922763 191922763 G C SNP STAT4 ENST00000358470 human ensembl 70_37 -1 known nonsense c.1187 p.S396* 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC STK11 6794 genome.wustl.edu 37 19 1220443 1220443 + Missense_Mutation SNP C C A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 1220443 1220443 C A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.536 p.P179Q 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 STK11 HGNC SUCLA2 8803 genome.wustl.edu 37 13 48562678 48562678 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 13 48562678 48562678 G A SNP SUCLA2 ENST00000378654 human ensembl 70_37 -1 known nonsense c.532 p.Q178* 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLA2 HGNC SYMPK 8189 genome.wustl.edu 37 19 46332236 46332236 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 46332236 46332236 C T SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known silent c.1977 p.Q659 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC SYNM 23336 genome.wustl.edu 37 15 99666966 99666966 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 99666966 99666966 C T SNP SYNM ENST00000336292 human ensembl 70_37 +1 known silent c.972 p.I324 0.684 NULL pfam_F - no_errors SYNM HGNC SYT4 6860 genome.wustl.edu 37 18 40849933 40849933 + RNA SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 40849933 40849933 G T SNP SYT4 ENST00000586678 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYT4 HGNC TANC2 26115 genome.wustl.edu 37 17 61278190 61278190 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 61278190 61278190 C G SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.419 p.S140C 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC TAOK2 9344 genome.wustl.edu 37 16 29996797 29996797 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 29996797 29996797 G A SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known silent c.1686 p.R562 0.925 NULL 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 TAOK2 HGNC TAOK2 9344 genome.wustl.edu 37 16 29997038 29997038 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 29997038 29997038 G C SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.1848 p.Q616H 1.000 NULL 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 TAOK2 HGNC TAOK2 9344 genome.wustl.edu 37 16 29998291 29998291 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 29998291 29998291 G C SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.2698 p.E900Q 0.977 NULL 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 TAOK2 HGNC TARS2 80222 genome.wustl.edu 37 1 150477452 150477452 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 150477452 150477452 G C SNP TARS2 ENST00000369064 human ensembl 70_37 +1 known missense c.1891 p.E631Q 0.985 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC TAS1R2 80834 genome.wustl.edu 37 1 19180914 19180914 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 19180914 19180914 G A SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel silent c.1050 p.L350 0.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC TBC1D17 79735 genome.wustl.edu 37 19 50381379 50381379 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 50381379 50381379 C T SNP TBC1D17 ENST00000598789 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TBC1D17 HGNC TBC1D8 11138 genome.wustl.edu 37 2 101645967 101645967 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 101645967 101645967 C G SNP TBC1D8 ENST00000409318 human ensembl 70_37 -1 known missense c.2208 p.L736F 0.999 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC TCEANC 170082 genome.wustl.edu 37 X 13682752 13682752 + RNA SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 13682752 13682752 C G SNP TCEANC ENST00000490617 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TCEANC HGNC TCF7L1 83439 genome.wustl.edu 37 2 85529687 85529687 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 85529687 85529687 C G SNP TCF7L1 ENST00000282111 human ensembl 70_37 +1 known missense c.606 p.F202L 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L1 HGNC TEX10 54881 genome.wustl.edu 37 9 103065971 103065971 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 103065971 103065971 G A SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known silent c.2619 p.L873 0.896 NULL pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC TFF1 7031 genome.wustl.edu 37 21 43786545 43786545 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 43786545 43786545 G T SNP TFF1 ENST00000291527 human ensembl 70_37 -1 known silent c.60 p.L20 0.811 NULL pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF1 HGNC TFRC 7037 genome.wustl.edu 37 3 195799011 195799011 + Silent SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 195799011 195799011 T C SNP TFRC ENST00000360110 human ensembl 70_37 -1 known silent c.447 p.E149 0.100 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC TH 7054 genome.wustl.edu 37 11 2185559 2185559 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 2185559 2185559 G C SNP TH ENST00000381178 human ensembl 70_37 -1 known missense c.1491 p.I497M 0.819 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC TMC1 117531 genome.wustl.edu 37 9 75315537 75315537 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 75315537 75315537 G A SNP TMC1 ENST00000297784 human ensembl 70_37 +1 known missense c.340 p.E114K 1.000 NULL pfam_TMC - no_errors TMC1 HGNC TMC3 342125 genome.wustl.edu 37 15 81635669 81635669 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 15 81635669 81635669 G A SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known silent c.1665 p.F555 1.000 pfam_TMC pfam_TMC - no_errors TMC3 HGNC TMEM225 338661 genome.wustl.edu 37 11 123755273 123755273 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 123755273 123755273 C T SNP TMEM225 ENST00000375026 human ensembl 70_37 -1 known silent c.252 p.L84 0.474 NULL NULL - no_errors TMEM225 HGNC TMEM241 85019 genome.wustl.edu 37 18 20878009 20878009 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 20878009 20878009 C G SNP TMEM241 ENST00000383233 human ensembl 70_37 -1 known missense c.853 p.E285Q 1.000 NULL NULL - no_errors TMEM241 HGNC TMEM52 339456 genome.wustl.edu 37 1 1849465 1849465 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 1849465 1849465 C G SNP TMEM52 ENST00000310991 human ensembl 70_37 -1 known missense c.486 p.K162N 0.972 NULL NULL - no_errors TMEM52 HGNC TNFRSF10A 8797 genome.wustl.edu 37 8 23054708 23054708 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 8 23054708 23054708 C G SNP TNFRSF10A ENST00000221132 human ensembl 70_37 -1 known missense c.1024 p.E342Q 0.000 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC TNIP3 79931 genome.wustl.edu 37 4 122082365 122082365 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 122082365 122082365 C T SNP TNIP3 ENST00000057513 human ensembl 70_37 -1 known missense c.73 p.E25K 0.560 NULL NULL - no_errors TNIP3 HGNC TNRC6B 23112 genome.wustl.edu 37 22 40706860 40706860 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 40706860 40706860 C T SNP TNRC6B ENST00000454349 human ensembl 70_37 +1 known missense c.4298 p.P1433L 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC TRAF3IP1 26146 genome.wustl.edu 37 2 239306205 239306205 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 239306205 239306205 C T SNP TRAF3IP1 ENST00000373327 human ensembl 70_37 +1 known missense c.1795 p.P599S 0.930 pfam_Microtubule/TRAF3/DISC1-bd pfam_Microtubule/TRAF3/DISC1-bd - no_errors TRAF3IP1 HGNC TRUB2 26995 genome.wustl.edu 37 9 131071960 131071960 + Nonsense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 131071960 131071960 G A SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known nonsense c.865 p.Q289* 0.993 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC TTC3 7267 genome.wustl.edu 37 21 38467758 38467758 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 38467758 38467758 G C SNP TTC3 ENST00000491952 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TTC3 HGNC TTC36 143941 genome.wustl.edu 37 11 118399332 118399332 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 118399332 118399332 C G SNP TTC36 ENST00000302783 human ensembl 70_37 +1 known missense c.133 p.Q45E 0.998 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC36 HGNC TTF1 7270 genome.wustl.edu 37 9 135278098 135278098 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 135278098 135278098 G A SNP TTF1 ENST00000334270 human ensembl 70_37 -1 known silent c.111 p.F37 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC TTLL7 79739 genome.wustl.edu 37 1 84403639 84403639 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 84403639 84403639 G A SNP TTLL7 ENST00000260505 human ensembl 70_37 -1 known missense c.784 p.R262W 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL7 HGNC TTN 7273 genome.wustl.edu 37 2 179410173 179410173 + Silent SNP T T C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 179410173 179410173 T C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.87960 p.A29320 1.000 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 TUBGCP3 10426 genome.wustl.edu 37 13 113213684 113213684 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 13 113213684 113213684 G A SNP TUBGCP3 ENST00000261965 human ensembl 70_37 -1 known silent c.282 p.L94 1.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP3 HGNC TUBGCP6 85378 genome.wustl.edu 37 22 50664587 50664587 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 22 50664587 50664587 G C SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known silent c.1725 p.L575 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC UBE3C 9690 genome.wustl.edu 37 7 157023913 157023913 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 7 157023913 157023913 C T SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known silent c.2373 p.F791 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC UBR2 23304 genome.wustl.edu 37 6 42655973 42655973 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 6 42655973 42655973 G C SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known missense c.4873 p.D1625H 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC UBXN10 127733 genome.wustl.edu 37 1 20517712 20517712 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 20517712 20517712 G A SNP UBXN10 ENST00000375099 human ensembl 70_37 +1 known missense c.658 p.D220N 0.526 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,smart_UBX,pfscan_UBX - no_errors UBXN10 HGNC UEVLD 55293 genome.wustl.edu 37 11 18558012 18558012 + Silent SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 18558012 18558012 G C SNP UEVLD ENST00000396197 human ensembl 70_37 -1 known silent c.1065 p.L355 0.053 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH - no_errors UEVLD HGNC UNC45B 146862 genome.wustl.edu 37 17 33476026 33476026 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 17 33476026 33476026 G C SNP UNC45B ENST00000268876 human ensembl 70_37 +1 known missense c.203 p.R68T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC UNC80 285175 genome.wustl.edu 37 2 210856956 210856956 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 2 210856956 210856956 G C SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.9183 p.K3061N 1.000 NULL NULL - no_errors UNC80 HGNC UPK1A 11045 genome.wustl.edu 37 19 36164426 36164426 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 36164426 36164426 C G SNP UPK1A ENST00000379013 human ensembl 70_37 +1 known silent c.447 p.L149 0.996 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC USP35 57558 genome.wustl.edu 37 11 77924696 77924698 + In_Frame_Del DEL AGG AGG - TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 77924696 77924698 AGG - DEL USP35 ENST00000529308 human ensembl 70_37 +1 known in_frame_del c.2894_2896 p.E966in_frame_del 1.000:1.000:1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC VCAM1 7412 genome.wustl.edu 37 1 101194865 101194865 + Silent SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 101194865 101194865 C T SNP VCAM1 ENST00000294728 human ensembl 70_37 +1 known silent c.1131 p.N377 0.235 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC VEGFC 7424 genome.wustl.edu 37 4 177605154 177605154 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 4 177605154 177605154 C T SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known missense c.1186 p.E396K 1.000 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC VEPH1 79674 genome.wustl.edu 37 3 157146182 157146182 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 157146182 157146182 G C SNP VEPH1 ENST00000362010 human ensembl 70_37 -1 known missense c.625 p.Q209E 1.000 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC VPS13A 23230 genome.wustl.edu 37 9 79929019 79929019 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 79929019 79929019 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.4226 p.S1409N 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VSX1 30813 genome.wustl.edu 37 20 25060148 25060148 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 25060148 25060148 C G SNP VSX1 ENST00000376709 human ensembl 70_37 -1 known missense c.427 p.E143Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VSX1 HGNC WSCD2 9671 genome.wustl.edu 37 12 108634216 108634216 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 12 108634216 108634216 G A SNP WSCD2 ENST00000261400 human ensembl 70_37 +1 known missense c.1240 p.A414T 0.994 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC WT1-AS 51352 genome.wustl.edu 37 11 32462761 32462761 + RNA SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 32462761 32462761 G C SNP WT1-AS ENST00000395900 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors WT1-AS HGNC WWC3 55841 genome.wustl.edu 37 X 10085617 10085617 + Frame_Shift_Del DEL G G - TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 10085617 10085617 G - DEL WWC3 ENST00000380861 human ensembl 70_37 +1 known frame_shift_del c.1518 p.D508fs 0.908 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC YBEY 54059 genome.wustl.edu 37 21 47711284 47711284 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 21 47711284 47711284 C G SNP YBEY ENST00000329319 human ensembl 70_37 +1 known missense c.247 p.P83A 0.209 pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd - no_errors YBEY HGNC YY2 404281 genome.wustl.edu 37 X 21875258 21875258 + Missense_Mutation SNP T T A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 X 21875258 21875258 T A SNP YY2 ENST00000429584 human ensembl 70_37 +1 known missense c.656 p.L219H 0.956 pirsf_TF_Yin_yang smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ZFAND5 7763 genome.wustl.edu 37 9 74970853 74970853 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 74970853 74970853 C T SNP ZFAND5 ENST00000488164 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZFAND5 HGNC ZFHX3 463 genome.wustl.edu 37 16 72828478 72828478 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 16 72828478 72828478 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.8103 p.F2701 1.000 smart_Homeodomain 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 ZNF154 7710 genome.wustl.edu 37 19 58216246 58216246 + Missense_Mutation SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 58216246 58216246 C G SNP ZNF154 ENST00000426889 human ensembl 70_37 -1 known missense c.135 p.E45D 0.993 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_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 ZNF154 HGNC ZNF155 7711 genome.wustl.edu 37 19 44500376 44500376 + Nonsense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 44500376 44500376 C T SNP ZNF155 ENST00000270014 human ensembl 70_37 +1 known nonsense c.367 p.Q123* 0.011 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF155 HGNC ZNF28 7576 genome.wustl.edu 37 19 53304956 53304956 + Splice_Site SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 53304956 53304956 C T SNP ZNF28 ENST00000457749 human ensembl 70_37 -1 known splice_site c.143-1 e3-1 0.014 - - - no_errors ZNF28 HGNC ZNF341 84905 genome.wustl.edu 37 20 32357961 32357961 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 32357961 32357961 G C SNP ZNF341 ENST00000375200 human ensembl 70_37 +1 known missense c.1485 p.K495N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ZNF37BP 100129482 genome.wustl.edu 37 10 43015673 43015673 + RNA SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 10 43015673 43015673 C T SNP ZNF37BP ENST00000452075 human ensembl 70_37 -1 known rna NULL NULL 0.807 - - - no_errors ZNF37BP HGNC ZNF404 342908 genome.wustl.edu 37 19 44378083 44378083 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 44378083 44378083 C T SNP ZNF404 ENST00000587539 human ensembl 70_37 -1 known missense c.283 p.E95K 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ZNF483 158399 genome.wustl.edu 37 9 114305025 114305025 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 9 114305025 114305025 G A SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known missense c.1810 p.E604K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,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 ZNF483 HGNC ZNF521 25925 genome.wustl.edu 37 18 22902062 22902062 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 18 22902062 22902062 C T SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.130 p.E44K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ZNF8 7554 genome.wustl.edu 37 19 58805598 58805598 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 58805598 58805598 G C SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.424 p.E142Q 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ZNF860 344787 genome.wustl.edu 37 3 32030784 32030784 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 3 32030784 32030784 G A SNP ZNF860 ENST00000360311 human ensembl 70_37 +1 known missense c.213 p.M71I 0.090 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_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 ZNF860 HGNC ZNRF4 148066 genome.wustl.edu 37 19 5456144 5456144 + Silent SNP G G T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 19 5456144 5456144 G T SNP ZNRF4 ENST00000222033 human ensembl 70_37 +1 known silent c.642 p.V214 0.037 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ZSCAN20 7579 genome.wustl.edu 37 1 33960203 33960203 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 1 33960203 33960203 C G SNP ZSCAN20 ENST00000326544 human ensembl 70_37 +1 known silent c.2259 p.L753 0.122 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ZSWIM1 90204 genome.wustl.edu 37 20 44512530 44512530 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 20 44512530 44512530 G C SNP ZSWIM1 ENST00000372520 human ensembl 70_37 +1 known missense c.1299 p.W433C 0.995 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ZW10 9183 genome.wustl.edu 37 11 113610023 113610023 + Silent SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1fafe3c5-ac9b-46e3-9c98-33b62a219227 1ef5ec74-19dc-4584-b0a8-edf7c5fda245 11 113610023 113610023 G A SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known silent c.1665 p.L555 0.038 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC