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 AADAC 13 genome.wustl.edu 37 3 151532064 151532064 + Silent SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 151532064 151532064 A G SNP AADAC ENST00000232892 human ensembl 70_37 +1 known silent c.114 p.A38 0.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ABCA12 26154 genome.wustl.edu 37 2 215812147 215812147 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 215812147 215812147 A T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.7238 p.L2413Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA13 154664 genome.wustl.edu 37 7 48634405 48634405 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 48634405 48634405 C A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.14740 p.H4914N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA4 24 genome.wustl.edu 37 1 94473823 94473823 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 94473823 94473823 C A SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known missense c.5866 p.D1956Y 1.000 pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ABCB9 23457 genome.wustl.edu 37 12 123433238 123433238 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 123433238 123433238 G A SNP ABCB9 ENST00000442028 human ensembl 70_37 -1 known missense c.986 p.S329F 0.996 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 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 - no_errors ABCB9 HGNC ACACA 31 genome.wustl.edu 37 17 35562745 35562745 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 35562745 35562745 G T SNP ACACA ENST00000353139 human ensembl 70_37 -1 known silent c.3990 p.I1330 1.000 pfam_AcCoA_COase_cen 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 ADAM20 8748 genome.wustl.edu 37 14 70989425 70989425 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 14 70989425 70989425 C T SNP ADAM20 ENST00000256389 human ensembl 70_37 -1 known missense c.2200 p.G734R 0.001 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 ADAM20 HGNC ADAMTS7 11173 genome.wustl.edu 37 15 79066564 79066564 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 79066564 79066564 G A SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known missense c.1955 p.T652I 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC AFP 174 genome.wustl.edu 37 4 74313271 74313271 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 74313271 74313271 A T SNP AFP ENST00000395792 human ensembl 70_37 +1 known missense c.936 p.Q312H 0.001 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC ALS2CR11 151254 genome.wustl.edu 37 2 202358491 202358491 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 202358491 202358491 C T SNP ALS2CR11 ENST00000439140 human ensembl 70_37 -1 novel missense c.2573 p.G858D 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC AMD1 262 genome.wustl.edu 37 6 111208743 111208743 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 111208743 111208743 G C SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known missense c.146 p.C49S 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC AMPH 273 genome.wustl.edu 37 7 38468041 38468041 + RNA SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 38468041 38468041 A G SNP AMPH ENST00000471913 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMPH HGNC ANKS1B 56899 genome.wustl.edu 37 12 99128516 99128516 + RNA SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 99128516 99128516 A T SNP ANKS1B ENST00000546541 human ensembl 70_37 -1 known rna NULL NULL 0.503 - - - no_errors ANKS1B HGNC APIP 51074 genome.wustl.edu 37 11 34916565 34916565 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 34916565 34916565 C G SNP APIP ENST00000278359 human ensembl 70_37 -1 known missense c.201 p.L67F 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ARAP3 64411 genome.wustl.edu 37 5 141033462 141033462 + RNA SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 141033462 141033462 G C SNP ARAP3 ENST00000512390 human ensembl 70_37 -1 known rna NULL NULL 0.111 - - - no_errors ARAP3 HGNC ARHGAP30 257106 genome.wustl.edu 37 1 161022560 161022560 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 161022560 161022560 G A SNP ARHGAP30 ENST00000368013 human ensembl 70_37 -1 known missense c.692 p.S231L 0.871 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ARID5B 84159 genome.wustl.edu 37 10 63661474 63661474 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 63661474 63661474 G T SNP ARID5B ENST00000279873 human ensembl 70_37 +1 known missense c.6 p.E2D 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ASB15 142685 genome.wustl.edu 37 7 123264786 123264786 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 123264786 123264786 G A SNP ASB15 ENST00000275699 human ensembl 70_37 +1 known silent c.615 p.L205 0.885 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,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 ASB15 HGNC ATF2 1386 genome.wustl.edu 37 2 175957797 175957797 + Nonsense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 175957797 175957797 G A SNP ATF2 ENST00000264110 human ensembl 70_37 -1 known nonsense c.1177 p.Q393* 1.000 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF2 HGNC DPH6 89978 genome.wustl.edu 37 15 35814434 35814434 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 35814434 35814434 G A SNP ATPBD4 ENST00000440392 human ensembl 70_37 -1 known missense c.358 p.L120F 1.000 NULL pfam_DUF71_ATP-bd_dom - no_errors ATPBD4 HGNC AURKB 9212 genome.wustl.edu 37 17 8108585 8108585 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 8108585 8108585 G T SNP AURKB ENST00000585124 human ensembl 70_37 -1 known missense c.810 p.N270K 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 AURKB HGNC B3GNT5 84002 genome.wustl.edu 37 3 182987731 182987731 + Nonsense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 182987731 182987731 A T SNP B3GNT5 ENST00000326505 human ensembl 70_37 +1 known nonsense c.145 p.R49* 1.000 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC BAAT 570 genome.wustl.edu 37 9 104133518 104133518 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 104133518 104133518 C G SNP BAAT ENST00000259407 human ensembl 70_37 -1 known missense c.169 p.E57Q 0.275 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC BBS10 79738 genome.wustl.edu 37 12 76740006 76740006 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 76740006 76740006 G T SNP BBS10 ENST00000393262 human ensembl 70_37 -1 known missense c.1759 p.Q587K 0.004 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC BCAP31 10134 genome.wustl.edu 37 X 152981118 152981118 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 152981118 152981118 C T SNP BCAP31 ENST00000458587 human ensembl 70_37 -1 known missense c.421 p.D141N 0.915 pfam_Bap31 pfam_Bap31 - no_errors BCAP31 HGNC BIN3 55909 genome.wustl.edu 37 8 22478974 22478974 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 22478974 22478974 G A SNP BIN3 ENST00000276416 human ensembl 70_37 -1 known silent c.723 p.L241 1.000 NULL pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC C22orf34 348645 genome.wustl.edu 37 22 49834802 49834802 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 22 49834802 49834802 G A SNP C22orf34 ENST00000414287 human ensembl 70_37 -1 known missense c.115 p.R39C 0.001 NULL NULL - no_errors C22orf34 HGNC C3orf55 152078 genome.wustl.edu 37 3 157318145 157318145 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 157318145 157318145 C G SNP C3orf55 ENST00000426338 human ensembl 70_37 +1 known missense c.377 p.S126C 0.029 NULL NULL - no_errors C3orf55 HGNC TMEM243 79161 genome.wustl.edu 37 7 86825918 86825918 + RNA SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 86825918 86825918 G A SNP C7orf23 ENST00000481425 human ensembl 70_37 -1 known rna NULL NULL 0.445 - - - no_errors C7orf23 HGNC C9orf171 389799 genome.wustl.edu 37 9 135374143 135374143 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 135374143 135374143 G C SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known missense c.365 p.G122A 1.000 NULL NULL - no_errors C9orf171 HGNC CACNB4 785 genome.wustl.edu 37 2 152727085 152727085 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 152727085 152727085 C T SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.662 p.R221H 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC CCDC129 223075 genome.wustl.edu 37 7 31692144 31692144 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 31692144 31692144 C T SNP CCDC129 ENST00000451887 human ensembl 70_37 +1 known missense c.2914 p.L972F 0.017 NULL NULL - no_errors CCDC129 HGNC CCDC47 57003 genome.wustl.edu 37 17 61842130 61842130 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 61842130 61842130 G C SNP CCDC47 ENST00000225726 human ensembl 70_37 -1 known missense c.342 p.S114R 1.000 NULL pfam_DUF1682 - no_errors CCDC47 HGNC CD36 948 genome.wustl.edu 37 7 80302689 80302689 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 80302689 80302689 G T SNP CD36 ENST00000309881 human ensembl 70_37 +1 known missense c.1218 p.K406N 0.019 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC CDCP2 200008 genome.wustl.edu 37 1 54602317 54602317 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 54602317 54602317 C T SNP CDCP2 ENST00000530059 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors CDCP2 HGNC CEP104 9731 genome.wustl.edu 37 1 3746490 3746490 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 3746490 3746490 C A SNP CEP104 ENST00000378230 human ensembl 70_37 -1 known missense c.1908 p.M636I 1.000 superfamily_ARM-type_fold superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC CERCAM 51148 genome.wustl.edu 37 9 131186429 131186429 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 131186429 131186429 G C SNP CERCAM ENST00000372838 human ensembl 70_37 +1 known missense c.439 p.D147H 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC CHD4 1108 genome.wustl.edu 37 12 6690234 6690234 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 6690234 6690234 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.4969 p.E1657K 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC CHRM3 1131 genome.wustl.edu 37 1 240071327 240071327 + Silent SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 240071327 240071327 T A SNP CHRM3 ENST00000255380 human ensembl 70_37 +1 known silent c.576 p.A192 0.779 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC COASY 80347 genome.wustl.edu 37 17 40716556 40716556 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 40716556 40716556 C T SNP COASY ENST00000590958 human ensembl 70_37 +1 known silent c.1095 p.F365 0.550 pfam_Cytidylyltransf pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC COL11A1 1301 genome.wustl.edu 37 1 103488543 103488543 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 103488543 103488543 C T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.1036 p.V346I 1.000 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 COL11A1 HGNC CPAMD8 27151 genome.wustl.edu 37 19 17086050 17086050 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 17086050 17086050 C T SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known missense c.2068 p.D690N 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC CREBBP 1387 genome.wustl.edu 37 16 3786748 3786748 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 3786748 3786748 G C SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.4463 p.P1488R 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 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 CREBBP HGNC CSGALNACT2 55454 genome.wustl.edu 37 10 43655971 43655972 + Frame_Shift_Ins INS - - TCATCTCA TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 43655971 43655972 - TCATCTCA INS CSGALNACT2 ENST00000374466 human ensembl 70_37 +1 known frame_shift_ins c.908_909 p.T306fs 1.000:0.999 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC CTNND2 1501 genome.wustl.edu 37 5 11082931 11082931 + Nonsense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 11082931 11082931 G A SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known nonsense c.2665 p.R889* 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC CXorf30 645090 genome.wustl.edu 37 X 36402963 36402963 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 36402963 36402963 G A SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.1744 p.V582M 0.000 NULL NULL - no_errors CXorf30 HGNC CYP2C9 1559 genome.wustl.edu 37 10 96741062 96741062 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 96741062 96741062 C T SNP CYP2C9 ENST00000260682 human ensembl 70_37 +1 known missense c.1084 p.L362F 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC DCTN1 1639 genome.wustl.edu 37 2 74590169 74590169 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 74590169 74590169 G C SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.3481 p.Q1161E 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC DDC 1644 genome.wustl.edu 37 7 50596916 50596916 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 50596916 50596916 G A SNP DDC ENST00000357936 human ensembl 70_37 -1 known missense c.560 p.S187L 0.019 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors DDC HGNC DIAPH1 1729 genome.wustl.edu 37 5 140963701 140963701 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 140963701 140963701 G A SNP DIAPH1 ENST00000253811 human ensembl 70_37 -1 known missense c.392 p.T131I 1.000 pfam_Drf_GTPase-bd pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH1 HGNC DLC1 10395 genome.wustl.edu 37 8 12958088 12958088 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 12958088 12958088 G A SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.1758 p.S586 0.975 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DMPK 1760 genome.wustl.edu 37 19 46280784 46280784 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 46280784 46280784 C T SNP DMPK ENST00000343373 human ensembl 70_37 -1 known missense c.977 p.R326Q 0.083 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors DMPK HGNC DMRT1 1761 genome.wustl.edu 37 9 894052 894052 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 894052 894052 A T SNP DMRT1 ENST00000382276 human ensembl 70_37 +1 known missense c.679 p.N227Y 1.000 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC DNAH9 1770 genome.wustl.edu 37 17 11604523 11604523 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 11604523 11604523 G A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.5110 p.E1704K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC DNAJB12 54788 genome.wustl.edu 37 10 74103158 74103158 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 74103158 74103158 C T SNP DNAJB12 ENST00000338820 human ensembl 70_37 -1 known silent c.525 p.K175 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB12 HGNC DOT1L 84444 genome.wustl.edu 37 19 2226747 2226747 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 2226747 2226747 G T SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known missense c.4227 p.K1409N 0.921 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC DROSHA 29102 genome.wustl.edu 37 5 31504711 31504711 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 31504711 31504711 G T SNP DROSHA ENST00000344624 human ensembl 70_37 -1 known missense c.1619 p.A540E 0.998 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC DSEL 92126 genome.wustl.edu 37 18 65179061 65179061 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 18 65179061 65179061 C T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.2815 p.D939N 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DST 667 genome.wustl.edu 37 6 56323951 56323951 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 56323951 56323951 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.23105 p.S7702F 1.000 NULL 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 ECE2 9718 genome.wustl.edu 37 3 183995182 183995182 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 183995182 183995182 G A SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.760 p.D254N 0.987 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ECE2 9718 genome.wustl.edu 37 3 184001608 184001608 + Silent SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 184001608 184001608 G C SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known silent c.1206 p.L402 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ELANE 1991 genome.wustl.edu 37 19 855661 855661 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 855661 855661 G C SNP ELANE ENST00000263621 human ensembl 70_37 +1 known missense c.464 p.G155A 1.000 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000206195 0 genome.wustl.edu 37 22 16151010 16151010 + RNA SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 22 16151010 16151010 T C SNP ENSG00000206195 ENST00000413768 human ensembl 70_37 -1 known rna NULL NULL 0.448 - - - no_errors AP000525.8 Clone_based_vega_gene ENSG00000214043 0 genome.wustl.edu 37 12 126947287 126947287 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 126947287 126947287 C T SNP ENSG00000214043 ENST00000397346 human ensembl 70_37 +1 known rna NULL NULL 0.199 - - - no_errors RP5-944M2.3 Clone_based_vega_gene ENSG00000218819 0 genome.wustl.edu 37 2 21366001 21366001 + Nonsense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 21366001 21366001 G T SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel nonsense c.5662 p.E1888* 0.002 superfamily_Staphylococal_nuclease_OB-fold pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000226526 0 genome.wustl.edu 37 1 17331326 17331326 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 17331326 17331326 C T SNP ENSG00000226526 ENST00000446261 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-37C10.3 Clone_based_vega_gene ENSG00000249772 0 genome.wustl.edu 37 5 80409295 80409295 + RNA SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 80409295 80409295 G C SNP ENSG00000249772 ENST00000508993 human ensembl 70_37 -1 known rna NULL NULL 0.060 - - - no_errors CTD-2193P3.2 Clone_based_vega_gene ENSG00000250770 0 genome.wustl.edu 37 12 3407262 3407262 + RNA SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 3407262 3407262 A G SNP ENSG00000250770 ENST00000505276 human ensembl 70_37 -1 known rna NULL NULL 0.048 - - - no_errors RP5-1063M23.1 Clone_based_vega_gene ENSG00000255367 0 genome.wustl.edu 37 11 3602161 3602161 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 3602161 3602161 C T SNP ENSG00000255367 ENST00000527970 human ensembl 70_37 -1 known rna NULL NULL 0.708 - - - no_errors RP13-726E6.2 Clone_based_vega_gene ENSG00000261423 0 genome.wustl.edu 37 15 72766720 72766720 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 72766720 72766720 C T SNP ENSG00000261423 ENST00000565181 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-1007O24.3 Clone_based_vega_gene ENSG00000261505 0 genome.wustl.edu 37 16 1370110 1370110 + RNA SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 1370110 1370110 G T SNP ENSG00000261505 ENST00000567829 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors LA16c-358B7.3 Clone_based_vega_gene ENSG00000267884 0 genome.wustl.edu 37 1 166028138 166028138 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 166028138 166028138 G T SNP ENSG00000267884 ENST00000595430 human ensembl 70_37 -1 known silent c.330 p.L110 0.005 NULL NULL - no_errors AL626787.1 Clone_based_ensembl_gene EPHA5 2044 genome.wustl.edu 37 4 66280031 66280031 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 66280031 66280031 C T SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known missense c.1658 p.R553Q 1.000 superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC EPSTI1 94240 genome.wustl.edu 37 13 43491701 43491701 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 13 43491701 43491701 C G SNP EPSTI1 ENST00000313640 human ensembl 70_37 -1 known missense c.750 p.K250N 0.962 NULL NULL - no_errors EPSTI1 HGNC ETF1 2107 genome.wustl.edu 37 5 137846755 137846755 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 137846755 137846755 G A SNP ETF1 ENST00000360541 human ensembl 70_37 -1 known missense c.997 p.L333F 1.000 pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC EYA2 2139 genome.wustl.edu 37 20 45618727 45618727 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 45618727 45618727 C T SNP EYA2 ENST00000327619 human ensembl 70_37 +1 known silent c.78 p.D26 0.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC FAM13B 51306 genome.wustl.edu 37 5 137292184 137292184 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 137292184 137292184 G A SNP FAM13B ENST00000425075 human ensembl 70_37 -1 known silent c.1135 p.L379 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom - no_errors FAM13B HGNC FAM205A 259308 genome.wustl.edu 37 9 34725112 34725112 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 34725112 34725112 C G SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.2125 p.A709P 0.000 NULL NULL - no_errors FAM205A HGNC FAM65B 9750 genome.wustl.edu 37 6 24861255 24861255 + Missense_Mutation SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 24861255 24861255 T C SNP FAM65B ENST00000259698 human ensembl 70_37 -1 known missense c.574 p.T192A 0.998 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC FANCG 2189 genome.wustl.edu 37 9 35078671 35078671 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 35078671 35078671 G C SNP FANCG ENST00000378643 human ensembl 70_37 -1 known missense c.238 p.L80V 0.938 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC FBXO30 84085 genome.wustl.edu 37 6 146125682 146125682 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 146125682 146125682 G T SNP FBXO30 ENST00000237281 human ensembl 70_37 -1 known silent c.1860 p.V620 0.880 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO30 HGNC FBXO40 51725 genome.wustl.edu 37 3 121340784 121340784 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 121340784 121340784 G A SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known missense c.508 p.G170R 0.710 NULL superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC FDFT1 2222 genome.wustl.edu 37 8 11696000 11696000 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 11696000 11696000 G A SNP FDFT1 ENST00000220584 human ensembl 70_37 +1 known missense c.1136 p.R379Q 1.000 NULL pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth - no_errors FDFT1 HGNC FERMT1 55612 genome.wustl.edu 37 20 6088188 6088188 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 6088188 6088188 C T SNP FERMT1 ENST00000217289 human ensembl 70_37 -1 known silent c.840 p.L280 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC FHDC1 85462 genome.wustl.edu 37 4 153864376 153864376 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 153864376 153864376 C T SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.167 p.S56F 0.475 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC FLII 2314 genome.wustl.edu 37 17 18158564 18158564 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 18158564 18158564 C T SNP FLII ENST00000327031 human ensembl 70_37 -1 known missense c.260 p.R87Q 1.000 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC FLT3 2322 genome.wustl.edu 37 13 28608483 28608483 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 13 28608483 28608483 G T SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known silent c.1659 p.L553 0.610 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC FREM2 341640 genome.wustl.edu 37 13 39263748 39263748 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 13 39263748 39263748 C A SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.2267 p.A756D 0.322 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC GBP5 115362 genome.wustl.edu 37 1 89730576 89730576 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 89730576 89730576 G A SNP GBP5 ENST00000343435 human ensembl 70_37 -1 known silent c.942 p.V314 0.036 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP5 HGNC GCG 2641 genome.wustl.edu 37 2 163003930 163003930 + Missense_Mutation SNP T T G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 163003930 163003930 T G SNP GCG ENST00000375497 human ensembl 70_37 -1 known missense c.187 p.S63R 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC GGA2 23062 genome.wustl.edu 37 16 23498096 23498096 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 23498096 23498096 G C SNP GGA2 ENST00000309859 human ensembl 70_37 -1 known missense c.595 p.L199V 1.000 pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC GLI1 2735 genome.wustl.edu 37 12 57864774 57864774 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 57864774 57864774 C G SNP GLI1 ENST00000228682 human ensembl 70_37 +1 known missense c.2251 p.L751V 0.736 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121409639 121409639 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 121409639 121409639 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8557 p.E2853Q 0.470 superfamily_STAT_TF_coiled-coil superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GPR98 84059 genome.wustl.edu 37 5 89979428 89979428 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 89979428 89979428 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.5690 p.S1897F 0.994 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 GPR98 84059 genome.wustl.edu 37 5 90052925 90052925 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 90052925 90052925 G T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.11887 p.G3963C 0.370 pfam_Calx_beta,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 GRAMD2 196996 genome.wustl.edu 37 15 72460080 72460080 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 72460080 72460080 G C SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known missense c.369 p.I123M 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC HERPUD1 9709 genome.wustl.edu 37 16 56976054 56976054 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 56976054 56976054 G T SNP HERPUD1 ENST00000439977 human ensembl 70_37 +1 known missense c.916 p.G306W 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC HIST2H2BE 8349 genome.wustl.edu 37 1 149857978 149857978 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 149857978 149857978 G C SNP HIST2H2BE ENST00000369155 human ensembl 70_37 -1 known missense c.213 p.F71L 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC IFNA5 3442 genome.wustl.edu 37 9 21304814 21304814 + Nonsense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 21304814 21304814 G A SNP IFNA5 ENST00000259555 human ensembl 70_37 -1 known nonsense c.442 p.Q148* 0.415 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA5 HGNC IL4R 3566 genome.wustl.edu 37 16 27374370 27374370 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 27374370 27374370 C T SNP IL4R ENST00000170630 human ensembl 70_37 +1 known missense c.1697 p.A566V 0.001 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC IRAK1BP1 134728 genome.wustl.edu 37 6 79607603 79607603 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 79607603 79607603 G A SNP IRAK1BP1 ENST00000369940 human ensembl 70_37 +1 known missense c.439 p.E147K 1.000 pfam_DUF541 pfam_DUF541 - no_errors IRAK1BP1 HGNC ITGA2 3673 genome.wustl.edu 37 5 52344281 52344281 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 52344281 52344281 C T SNP ITGA2 ENST00000296585 human ensembl 70_37 +1 known missense c.476 p.S159L 0.004 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ITGA4 3676 genome.wustl.edu 37 2 182360128 182360128 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 182360128 182360128 C T SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.1370 p.S457F 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ITGB6 3694 genome.wustl.edu 37 2 160980321 160980321 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 160980321 160980321 C T SNP ITGB6 ENST00000283249 human ensembl 70_37 -1 known silent c.1962 p.A654 0.003 pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB6 HGNC ITIH3 3699 genome.wustl.edu 37 3 52830650 52830650 + Missense_Mutation SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 52830650 52830650 A G SNP ITIH3 ENST00000449956 human ensembl 70_37 +1 known missense c.268 p.T90A 1.000 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC KCNK9 51305 genome.wustl.edu 37 8 140631202 140631202 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 140631202 140631202 G A SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known missense c.424 p.R142C 1.000 pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC KDM5A 5927 genome.wustl.edu 37 12 475192 475192 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 475192 475192 G C SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.445 p.L149V 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KIAA1430 57587 genome.wustl.edu 37 4 186111575 186111575 + Nonsense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 186111575 186111575 G C SNP KIAA1430 ENST00000296775 human ensembl 70_37 -1 known nonsense c.776 p.S259* 0.993 NULL NULL - no_errors KIAA1430 HGNC KIF24 347240 genome.wustl.edu 37 9 34263154 34263154 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 34263154 34263154 C G SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known missense c.1460 p.R487P 1.000 pfam_Kinesin_motor_dom,smart_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 KIR3DX1 90011 genome.wustl.edu 37 19 55046737 55046737 + RNA SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 55046737 55046737 T A SNP KIR3DX1 ENST00000482404 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors KIR3DX1 HGNC KLC2 64837 genome.wustl.edu 37 11 66026210 66026210 + Nonsense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 66026210 66026210 G T SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known nonsense c.145 p.E49* 0.611 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC KLHL28 54813 genome.wustl.edu 37 14 45398273 45398273 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 14 45398273 45398273 G T SNP KLHL28 ENST00000396128 human ensembl 70_37 -1 known silent c.1674 p.G558 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC LAMA2 3908 genome.wustl.edu 37 6 129807751 129807751 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 129807751 129807751 G T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.7882 p.V2628L 0.020 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMTOR4 389541 genome.wustl.edu 37 7 99747167 99747167 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 99747167 99747167 G C SNP LAMTOR4 ENST00000341942 human ensembl 70_37 +1 known missense c.49 p.G17R 0.801 NULL NULL - no_errors LAMTOR4 HGNC LOC101060092 101060092 genome.wustl.edu 37 10 17949643 17949643 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 17949643 17949643 A T SNP LOC101060092 ENST00000331429 human ensembl 70_37 +1 novel missense c.4007 p.H1336L 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene LOC339524 339524 genome.wustl.edu 37 1 87597801 87597801 + RNA SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 87597801 87597801 A G SNP LOC339524 ENST00000467438 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1052I5.1 Clone_based_vega_gene LOC387647 387647 genome.wustl.edu 37 10 29698432 29698432 + RNA SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 29698432 29698432 G T SNP LOC387647 ENST00000430295 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-534G20.3 Clone_based_vega_gene LRP1B 53353 genome.wustl.edu 37 2 141298620 141298620 + Missense_Mutation SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 141298620 141298620 A G SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.7435 p.C2479R 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,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_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRRC16A 55604 genome.wustl.edu 37 6 25452453 25452454 + RNA INS - - T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 25452453 25452454 - T INS LRRC16A ENST00000461945 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LRRC16A HGNC LRRC37A3 374819 genome.wustl.edu 37 17 62859084 62859084 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 62859084 62859084 C T SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.3106 p.E1036K 0.964 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC LRRIQ4 344657 genome.wustl.edu 37 3 169540456 169540456 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 169540456 169540456 C T SNP LRRIQ4 ENST00000340806 human ensembl 70_37 +1 known silent c.747 p.I249 0.339 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC LRTOMT 220074 genome.wustl.edu 37 11 71807777 71807777 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 71807777 71807777 G A SNP LRTOMT ENST00000447974 human ensembl 70_37 +1 known missense c.446 p.G149E 0.003 NULL NULL - no_errors LRTOMT HGNC LYZL2 119180 genome.wustl.edu 37 10 30918616 30918616 + Missense_Mutation SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 30918616 30918616 T C SNP LYZL2 ENST00000375318 human ensembl 70_37 -1 known missense c.19 p.S7G 0.018 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC MAP3K7 6885 genome.wustl.edu 37 6 91225676 91225676 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 91225676 91225676 C T SNP MAP3K7 ENST00000479630 human ensembl 70_37 -1 known rna NULL NULL 0.811 - - - no_errors MAP3K7 HGNC MAPK8 5599 genome.wustl.edu 37 10 49628280 49628280 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 49628280 49628280 C T SNP MAPK8 ENST00000360332 human ensembl 70_37 +1 known missense c.533 p.T178M 0.999 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,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC MDS2 259283 genome.wustl.edu 37 1 23908066 23908066 + RNA SNP T T G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 23908066 23908066 T G SNP MDS2 ENST00000477916 human ensembl 70_37 +1 known rna NULL NULL 0.048 - - - no_errors MDS2 HGNC MIEN1 84299 genome.wustl.edu 37 17 37885784 37885784 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 37885784 37885784 G T SNP MIEN1 ENST00000394231 human ensembl 70_37 -1 known silent c.339 p.V113 0.999 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC MOCS1 4337 genome.wustl.edu 37 6 39881113 39881113 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 39881113 39881113 C G SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.705 p.L235F 0.994 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC MPDZ 8777 genome.wustl.edu 37 9 13192225 13192225 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 13192225 13192225 C T SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.1873 p.E625K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MUC4 4585 genome.wustl.edu 37 3 195506314 195506314 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 195506314 195506314 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.12137 p.T4046S 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MYH2 4620 genome.wustl.edu 37 17 10426696 10426696 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 10426696 10426696 G C SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.5506 p.Q1836E 1.000 pfam_Myosin_tail 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 MYO10 4651 genome.wustl.edu 37 5 16703225 16703225 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 16703225 16703225 C T SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known silent c.2319 p.Q773 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC MYO15A 51168 genome.wustl.edu 37 17 18052198 18052198 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 18052198 18052198 C T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.6888 p.F2296 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYO1F 4542 genome.wustl.edu 37 19 8587697 8587697 + Silent SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 8587697 8587697 C A SNP MYO1F ENST00000338257 human ensembl 70_37 -1 known silent c.2871 p.G957 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC MYO3A 53904 genome.wustl.edu 37 10 26500868 26500868 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 26500868 26500868 C A SNP MYO3A ENST00000543632 human ensembl 70_37 +1 known missense c.1873 p.P625T 0.862 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_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,smart_Myosin_head_motor_dom,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC NBPF10 100132406 genome.wustl.edu 37 1 145311874 145311874 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 145311874 145311874 G C SNP NBPF10 ENST00000369338 human ensembl 70_37 +1 known missense c.1123 p.E375Q 0.002 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC NCF1 653361 genome.wustl.edu 37 7 74203029 74203029 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 74203029 74203029 G A SNP NCF1 ENST00000289473 human ensembl 70_37 +1 known silent c.1032 p.Q344 0.010 pfam_NADPH_oxidase_p47Phox_C pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_P47PHOX,pfscan_Phox,pfscan_SH3_domain - no_errors NCF1 HGNC NEFM 4741 genome.wustl.edu 37 8 24774881 24774881 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 24774881 24774881 G C SNP NEFM ENST00000221166 human ensembl 70_37 +1 known missense c.1513 p.E505Q 0.130 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC NFKB2 4791 genome.wustl.edu 37 10 104154243 104154243 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 104154243 104154243 C T SNP NFKB2 ENST00000593908 human ensembl 70_37 +1 known rna NULL NULL 0.963 - - - no_errors NFKB2 HGNC NLRC4 58484 genome.wustl.edu 37 2 32475118 32475118 + Silent SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 32475118 32475118 A G SNP NLRC4 ENST00000360906 human ensembl 70_37 -1 known silent c.1815 p.C605 0.990 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC NLRP10 338322 genome.wustl.edu 37 11 7982843 7982843 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 7982843 7982843 C T SNP NLRP10 ENST00000328600 human ensembl 70_37 -1 known missense c.316 p.V106M 0.387 NULL pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120458453 120458453 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 120458453 120458453 G A SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.6892 p.R2298W 0.981 pirsf_Notch,prints_Notch_2 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC NRSN1 140767 genome.wustl.edu 37 6 24145979 24145979 + Silent SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 24145979 24145979 A T SNP NRSN1 ENST00000378491 human ensembl 70_37 +1 known silent c.393 p.A131 0.037 NULL NULL - no_errors NRSN1 HGNC NT5E 4907 genome.wustl.edu 37 6 86176858 86176858 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 86176858 86176858 G A SNP NT5E ENST00000257770 human ensembl 70_37 +1 known silent c.420 p.L140 1.000 pfam_Metallo_PEstase_dom pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC OR2T27 403239 genome.wustl.edu 37 1 248813752 248813752 + Missense_Mutation SNP A A T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 248813752 248813752 A T SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known missense c.434 p.V145E 0.019 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC OR5AC2 81050 genome.wustl.edu 37 3 97806600 97806600 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 97806600 97806600 C G SNP OR5AC2 ENST00000358642 human ensembl 70_37 +1 known missense c.584 p.S195C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AC2 HGNC PABPN1L 390748 genome.wustl.edu 37 16 88930774 88930774 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 88930774 88930774 C G SNP PABPN1L ENST00000427766 human ensembl 70_37 -1 known missense c.561 p.K187N 1.000 NULL NULL - no_errors PABPN1L HGNC PAX7 5081 genome.wustl.edu 37 1 19062470 19062470 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 19062470 19062470 G T SNP PAX7 ENST00000375375 human ensembl 70_37 +1 known silent c.1500 p.G500 0.007 NULL pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX7 HGNC PCDHA5 56143 genome.wustl.edu 37 5 140202138 140202138 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 140202138 140202138 G T SNP PCDHA5 ENST00000529859 human ensembl 70_37 +1 known missense c.778 p.V260F 0.525 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC PCDHGA10 56106 genome.wustl.edu 37 5 140793061 140793061 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 140793061 140793061 G A SNP PCDHGA10 ENST00000398610 human ensembl 70_37 +1 known missense c.319 p.V107M 0.546 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC PCF11 51585 genome.wustl.edu 37 11 82876722 82876722 + Silent SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 82876722 82876722 T A SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known silent c.783 p.I261 0.974 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC PCSK4 54760 genome.wustl.edu 37 19 1487842 1487842 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 1487842 1487842 C T SNP PCSK4 ENST00000300954 human ensembl 70_37 -1 known missense c.535 p.D179N 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC PDE4C 5143 genome.wustl.edu 37 19 18322662 18322662 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 18322662 18322662 G A SNP PDE4C ENST00000355502 human ensembl 70_37 -1 known silent c.1698 p.A566 0.795 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC PEX5L 51555 genome.wustl.edu 37 3 179526207 179526207 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 179526207 179526207 C T SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known silent c.1371 p.V457 0.999 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC PGBD2 267002 genome.wustl.edu 37 1 249212358 249212358 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 249212358 249212358 G A SNP PGBD2 ENST00000329291 human ensembl 70_37 +1 known silent c.1575 p.L525 0.977 NULL NULL - no_errors PGBD2 HGNC PHTF2 57157 genome.wustl.edu 37 7 77567158 77567158 + RNA SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 77567158 77567158 G T SNP PHTF2 ENST00000454592 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors PHTF2 HGNC PINK1 65018 genome.wustl.edu 37 1 20977197 20977197 + RNA SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 20977197 20977197 G A SNP PINK1 ENST00000400490 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PINK1 HGNC PKD1 5310 genome.wustl.edu 37 16 2155420 2155420 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 2155420 2155420 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.7919 p.A2640V 0.873 pfscan_REJ-like,tigrfam_Polycystin_cat 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 PKD1 5310 genome.wustl.edu 37 16 2157691 2157691 + RNA SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 2157691 2157691 G C SNP PKD1 ENST00000483558 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PKD1 HGNC PKD1 5310 genome.wustl.edu 37 16 2159882 2159882 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 2159882 2159882 G T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.5286 p.T1762 0.069 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat 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 PKNOX2 63876 genome.wustl.edu 37 11 125280125 125280125 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 125280125 125280125 G C SNP PKNOX2 ENST00000298282 human ensembl 70_37 +1 known missense c.622 p.G208R 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX2 HGNC PLCH1 23007 genome.wustl.edu 37 3 155200357 155200357 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 155200357 155200357 G C SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.3482 p.S1161C 0.007 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLEKHA8P1 51054 genome.wustl.edu 37 12 45568252 45568252 + RNA SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 45568252 45568252 T A SNP PLEKHA8P1 ENST00000256692 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHA8P1 HGNC PLIN4 729359 genome.wustl.edu 37 19 4512512 4512512 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 4512512 4512512 C A SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.1418 p.G473V 0.008 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PPL 5493 genome.wustl.edu 37 16 4938172 4938172 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 4938172 4938172 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2445 p.E815D 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPP1R16B 26051 genome.wustl.edu 37 20 37536735 37536735 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 37536735 37536735 G C SNP PPP1R16B ENST00000299824 human ensembl 70_37 +1 known missense c.1093 p.E365Q 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC PPP3CC 5533 genome.wustl.edu 37 8 22398215 22398215 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 22398215 22398215 G A SNP PPP3CC ENST00000240139 human ensembl 70_37 +1 known missense c.1439 p.R480Q 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC PRPF8 10594 genome.wustl.edu 37 17 1561948 1561948 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 1561948 1561948 C G SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.5248 p.G1750R 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 PRUNE2 158471 genome.wustl.edu 37 9 79259658 79259658 + Nonsense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 79259658 79259658 C A SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known nonsense c.7651 p.G2551* 1.000 pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC PTPRD 5789 genome.wustl.edu 37 9 8465527 8465527 + Missense_Mutation SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 8465527 8465527 T C SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.3653 p.Q1218R 1.000 NULL 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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC RAD21 5885 genome.wustl.edu 37 8 117875499 117875499 + Splice_Site SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 8 117875499 117875499 C T SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known splice_site c.145-1 e2-1 1.000 - - - no_errors RAD21 HGNC RAPGEF4 11069 genome.wustl.edu 37 2 173679324 173679324 + RNA SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 173679324 173679324 A G SNP RAPGEF4 ENST00000464976 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RAPGEF4 HGNC RASGEF1C 255426 genome.wustl.edu 37 5 179545796 179545796 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 179545796 179545796 G A SNP RASGEF1C ENST00000361132 human ensembl 70_37 -1 known silent c.978 p.F326 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC RASGRF2 5924 genome.wustl.edu 37 5 80256591 80256591 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 80256591 80256591 G A SNP RASGRF2 ENST00000265080 human ensembl 70_37 +1 known missense c.34 p.A12T 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC RASIP1 54922 genome.wustl.edu 37 19 49225250 49225250 + Nonsense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 49225250 49225250 C T SNP RASIP1 ENST00000222145 human ensembl 70_37 -1 known nonsense c.2553 p.W851* 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC RBPJL 11317 genome.wustl.edu 37 20 43944948 43944948 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 43944948 43944948 C T SNP RBPJL ENST00000343694 human ensembl 70_37 +1 known missense c.1142 p.P381L 0.999 superfamily_Ig_E-set pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC RNF128 79589 genome.wustl.edu 37 X 105970452 105970452 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 105970452 105970452 G A SNP RNF128 ENST00000255499 human ensembl 70_37 +1 known silent c.309 p.T103 0.998 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC RTKN2 219790 genome.wustl.edu 37 10 63957838 63957838 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 10 63957838 63957838 C T SNP RTKN2 ENST00000373789 human ensembl 70_37 -1 known silent c.1659 p.Q553 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC SCARB1 949 genome.wustl.edu 37 12 125298946 125298946 + Silent SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 125298946 125298946 C A SNP SCARB1 ENST00000415380 human ensembl 70_37 -1 known silent c.432 p.A144 0.000 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC SCNN1A 6337 genome.wustl.edu 37 12 6464457 6464457 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 6464457 6464457 G T SNP SCNN1A ENST00000358945 human ensembl 70_37 -1 known missense c.1124 p.T375N 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC SERPINA7 6906 genome.wustl.edu 37 X 105277520 105277520 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 105277520 105277520 C A SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known missense c.1219 p.G407W 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC SLC32A1 140679 genome.wustl.edu 37 20 37357017 37357017 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 20 37357017 37357017 C T SNP SLC32A1 ENST00000217420 human ensembl 70_37 +1 known missense c.1313 p.A438V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC SLC39A3 29985 genome.wustl.edu 37 19 2733271 2733271 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 2733271 2733271 C T SNP SLC39A3 ENST00000269740 human ensembl 70_37 -1 known silent c.423 p.A141 0.000 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC SLC4A3 6508 genome.wustl.edu 37 2 220506409 220506409 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 220506409 220506409 G A SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known missense c.3739 p.D1247N 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC SLC6A9 6536 genome.wustl.edu 37 1 44490015 44490015 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 44490015 44490015 C T SNP SLC6A9 ENST00000492434 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A9 HGNC SLC9C1 285335 genome.wustl.edu 37 3 111923076 111923076 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 111923076 111923076 G A SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known missense c.2161 p.R721C 0.997 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC SMARCAD1 56916 genome.wustl.edu 37 4 95199770 95199770 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 95199770 95199770 C G SNP SMARCAD1 ENST00000359052 human ensembl 70_37 +1 known missense c.2182 p.L728V 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC SMIM7 79086 genome.wustl.edu 37 19 16757772 16757772 + RNA SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 16757772 16757772 C T SNP SMIM7 ENST00000397349 human ensembl 70_37 -1 known rna NULL NULL 0.141 - - - no_errors SMIM7 HGNC SMIM7 79086 genome.wustl.edu 37 19 16757848 16757848 + RNA SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 16757848 16757848 C G SNP SMIM7 ENST00000397349 human ensembl 70_37 -1 known rna NULL NULL 0.079 - - - no_errors SMIM7 HGNC SNAP91 9892 genome.wustl.edu 37 6 84317460 84317460 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 84317460 84317460 G A SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.980 p.P327L 0.997 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC SPINT2 10653 genome.wustl.edu 37 19 38780921 38780921 + Splice_Site SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 38780921 38780921 G T SNP SPINT2 ENST00000301244 human ensembl 70_37 +1 known splice_site c.553+1 e5+1 0.996 - - - no_errors SPINT2 HGNC SPNS3 201305 genome.wustl.edu 37 17 4389539 4389539 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 4389539 4389539 G C SNP SPNS3 ENST00000355530 human ensembl 70_37 +1 known missense c.1196 p.R399T 0.959 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC SRSF12 135295 genome.wustl.edu 37 6 89808550 89808550 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 89808550 89808550 C T SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.533 p.G178E 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC SSX9 280660 genome.wustl.edu 37 X 48159169 48159169 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 48159169 48159169 C G SNP SSX9 ENST00000376909 human ensembl 70_37 -1 known missense c.364 p.D122H 0.001 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX9 HGNC ST8SIA4 7903 genome.wustl.edu 37 5 100231456 100231456 + Silent SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 100231456 100231456 G C SNP ST8SIA4 ENST00000231461 human ensembl 70_37 -1 known silent c.147 p.V49 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC STIL 6491 genome.wustl.edu 37 1 47726194 47726194 + Silent SNP T T A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 47726194 47726194 T A SNP STIL ENST00000371877 human ensembl 70_37 -1 known silent c.2847 p.L949 0.165 NULL NULL - no_errors STIL HGNC STXBP5L 9515 genome.wustl.edu 37 3 120998662 120998662 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 120998662 120998662 G C SNP STXBP5L ENST00000273666 human ensembl 70_37 +1 known missense c.1969 p.G657R 1.000 superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC STXBP5L 9515 genome.wustl.edu 37 3 121132054 121132054 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 121132054 121132054 G A SNP STXBP5L ENST00000273666 human ensembl 70_37 +1 known missense c.3070 p.D1024N 1.000 pfam_Lgl_C pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC STYK1 55359 genome.wustl.edu 37 12 10782274 10782274 + Splice_Site SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 10782274 10782274 C T SNP STYK1 ENST00000075503 human ensembl 70_37 -1 known splice_site c.452-1 e4-1 0.998 - - - no_errors STYK1 HGNC SYDE1 85360 genome.wustl.edu 37 19 15222450 15222450 + Silent SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 15222450 15222450 C G SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known silent c.1425 p.L475 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC SYT11 23208 genome.wustl.edu 37 1 155851228 155851228 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 155851228 155851228 G A SNP SYT11 ENST00000368324 human ensembl 70_37 +1 known missense c.1225 p.E409K 0.773 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC SYTL2 54843 genome.wustl.edu 37 11 85435387 85435387 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 85435387 85435387 C T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.3685 p.E1229K 0.151 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC TBC1D21 161514 genome.wustl.edu 37 15 74166104 74166104 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 74166104 74166104 C A SNP TBC1D21 ENST00000300504 human ensembl 70_37 +1 known missense c.54 p.F18L 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC TBC1D22B 55633 genome.wustl.edu 37 6 37284604 37284604 + Nonsense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 37284604 37284604 C T SNP TBC1D22B ENST00000373491 human ensembl 70_37 +1 known nonsense c.1291 p.Q431* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC TCF3 6929 genome.wustl.edu 37 19 1623966 1623966 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 1623966 1623966 G A SNP TCF3 ENST00000262965 human ensembl 70_37 -1 known missense c.533 p.P178L 0.995 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF3 HGNC THSD7B 80731 genome.wustl.edu 37 2 138413202 138413202 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 138413202 138413202 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known silent c.4086 p.L1362 1.000 smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TIGD6 81789 genome.wustl.edu 37 5 149375702 149375702 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 5 149375702 149375702 C T SNP TIGD6 ENST00000296736 human ensembl 70_37 -1 known missense c.210 p.M70I 0.765 superfamily_Homeodomain-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC TMEM151A 256472 genome.wustl.edu 37 11 66062524 66062524 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 66062524 66062524 G A SNP TMEM151A ENST00000327259 human ensembl 70_37 +1 known silent c.807 p.S269 0.104 NULL NULL - no_errors TMEM151A HGNC TMEM45A 55076 genome.wustl.edu 37 3 100277259 100277259 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 100277259 100277259 C G SNP TMEM45A ENST00000323523 human ensembl 70_37 +1 known missense c.414 p.F138L 1.000 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TMEM45A HGNC TMPRSS15 5651 genome.wustl.edu 37 21 19770616 19770616 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 21 19770616 19770616 C G SNP TMPRSS15 ENST00000284885 human ensembl 70_37 -1 known missense c.176 p.R59T 0.994 pfam_SEA,smart_SEA,pfscan_SEA pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC TNFRSF1A 7132 genome.wustl.edu 37 12 6439073 6439073 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 12 6439073 6439073 G A SNP TNFRSF1A ENST00000162749 human ensembl 70_37 -1 known missense c.928 p.P310S 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC TPO 7173 genome.wustl.edu 37 2 1426846 1426846 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 1426846 1426846 G A SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.124 p.V42I 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC TREML3P 340206 genome.wustl.edu 37 6 41184878 41184878 + RNA SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 6 41184878 41184878 G A SNP TREML3P ENST00000564680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TREML3P HGNC TRIP12 9320 genome.wustl.edu 37 2 230678652 230678652 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 230678652 230678652 G T SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known silent c.1776 p.I592 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TRMT1L 81627 genome.wustl.edu 37 1 185094133 185094133 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 185094133 185094133 C G SNP TRMT1L ENST00000367506 human ensembl 70_37 -1 known missense c.1702 p.E568Q 1.000 NULL pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC TRNAU1AP 54952 genome.wustl.edu 37 1 28897738 28897738 + Missense_Mutation SNP A A C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 28897738 28897738 A C SNP TRNAU1AP ENST00000373830 human ensembl 70_37 +1 known missense c.581 p.N194T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRNAU1AP HGNC TTC16 158248 genome.wustl.edu 37 9 130493590 130493590 + Nonsense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 9 130493590 130493590 C G SNP TTC16 ENST00000373289 human ensembl 70_37 +1 known nonsense c.2528 p.S843* 0.001 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC TTN 7273 genome.wustl.edu 37 2 179456845 179456845 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 179456845 179456845 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.52082 p.A17361D 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 TTN 7273 genome.wustl.edu 37 2 179590695 179590695 + Missense_Mutation SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 179590695 179590695 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.16622 p.S5541L 0.009 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 TXNDC2 84203 genome.wustl.edu 37 18 9886830 9886830 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 18 9886830 9886830 C G SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known missense c.354 p.D118E 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC UACA 55075 genome.wustl.edu 37 15 70959510 70959510 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 15 70959510 70959510 C T SNP UACA ENST00000322954 human ensembl 70_37 -1 known silent c.3513 p.Q1171 0.509 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC UBE2I 7329 genome.wustl.edu 37 16 1370260 1370260 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 1370260 1370260 G C SNP UBE2I ENST00000325437 human ensembl 70_37 +1 known missense c.309 p.W103C 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2I HGNC UHRF1 29128 genome.wustl.edu 37 19 4945950 4945950 + RNA SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 4945950 4945950 C A SNP UHRF1 ENST00000262952 human ensembl 70_37 +1 known rna NULL NULL 0.545 - - - no_errors UHRF1 HGNC URB1 9875 genome.wustl.edu 37 21 33725190 33725190 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 21 33725190 33725190 C T SNP URB1 ENST00000382751 human ensembl 70_37 -1 known silent c.2442 p.T814 0.000 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC UROC1 131669 genome.wustl.edu 37 3 126218960 126218960 + Nonsense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 3 126218960 126218960 C A SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known nonsense c.1183 p.E395* 0.694 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC UVRAG 7405 genome.wustl.edu 37 11 75727906 75727906 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 75727906 75727906 C G SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known missense c.1108 p.L370V 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC VAV1 7409 genome.wustl.edu 37 19 6821677 6821677 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 6821677 6821677 G C SNP VAV1 ENST00000602142 human ensembl 70_37 +1 known missense c.366 p.Q122H 1.000 superfamily_CH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC VPS4B 9525 genome.wustl.edu 37 18 61058250 61058250 + Missense_Mutation SNP C C A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 18 61058250 61058250 C A SNP VPS4B ENST00000238497 human ensembl 70_37 -1 known missense c.1293 p.L431F 0.999 pfam_Vps4_C pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC VWA3A 146177 genome.wustl.edu 37 16 22157643 22157643 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 16 22157643 22157643 G C SNP VWA3A ENST00000389398 human ensembl 70_37 +1 known missense c.2817 p.Q939H 0.998 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC WDFY3 23001 genome.wustl.edu 37 4 85605214 85605214 + Missense_Mutation SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 4 85605214 85605214 A G SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.9608 p.V3203A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WDR45B 56270 genome.wustl.edu 37 17 80573806 80573806 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 80573806 80573806 C T SNP WDR45L ENST00000392325 human ensembl 70_37 -1 known missense c.1024 p.D342N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45L HGNC WFIKKN2 124857 genome.wustl.edu 37 17 48916923 48916923 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 17 48916923 48916923 C T SNP WFIKKN2 ENST00000311378 human ensembl 70_37 +1 known missense c.274 p.R92C 1.000 superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC WNT11 7481 genome.wustl.edu 37 11 75905741 75905741 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 11 75905741 75905741 C T SNP WNT11 ENST00000322563 human ensembl 70_37 -1 known missense c.467 p.G156E 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC XIST 7503 genome.wustl.edu 37 X 73045954 73045954 + RNA SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 X 73045954 73045954 G T SNP XIST ENST00000416330 human ensembl 70_37 -1 known rna NULL NULL 0.312 - - - no_errors XIST HGNC ZNF273 10793 genome.wustl.edu 37 7 64349231 64349231 + RNA SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 7 64349231 64349231 C G SNP ZNF273 ENST00000471926 human ensembl 70_37 +1 putative rna NULL NULL 0.008 - - - no_errors ZNF273 HGNC ZNF324B 388569 genome.wustl.edu 37 19 58967304 58967304 + Silent SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 58967304 58967304 C T SNP ZNF324B ENST00000336614 human ensembl 70_37 +1 known silent c.993 p.H331 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ZNF557 79230 genome.wustl.edu 37 19 7081464 7081464 + Missense_Mutation SNP C C T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 7081464 7081464 C T SNP ZNF557 ENST00000252840 human ensembl 70_37 +1 known missense c.341 p.P114L 0.652 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 ZNF557 HGNC ZNF638 27332 genome.wustl.edu 37 2 71650144 71650144 + Missense_Mutation SNP T T C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 2 71650144 71650144 T C SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known missense c.3500 p.L1167P 0.991 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ZNF816 125893 genome.wustl.edu 37 19 53454323 53454323 + Silent SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 19 53454323 53454323 G C SNP ZNF816 ENST00000357666 human ensembl 70_37 -1 known silent c.705 p.G235 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ZYG11A 440590 genome.wustl.edu 37 1 53326437 53326437 + Missense_Mutation SNP A A G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c64056-82a4-41ae-bb30-0aa3e47d9040 70f7d57a-4b25-4f5b-8e29-115dda15aaf8 1 53326437 53326437 A G SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.1043 p.E348G 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC