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 AADACL3 126767 genome.wustl.edu 37 1 12785847 12785847 + Missense_Mutation SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 12785847 12785847 C A SNP AADACL3 ENST00000359318 human ensembl 70_37 +1 known missense c.937 p.H313N 0.197 pfam_AB_hydrolase_3 pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ABCA4 24 genome.wustl.edu 37 1 94486804 94486804 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 94486804 94486804 C G SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known missense c.5010 p.E1670D 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ABCA4 24 genome.wustl.edu 37 1 94487408 94487408 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 94487408 94487408 C G SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known silent c.4767 p.V1589 0.999 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ACAP2 23527 genome.wustl.edu 37 3 195022848 195022848 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 195022848 195022848 G A SNP ACAP2 ENST00000326793 human ensembl 70_37 -1 known missense c.1172 p.S391F 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ADAM18 8749 genome.wustl.edu 37 8 39505933 39505933 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 39505933 39505933 G C SNP ADAM18 ENST00000265707 human ensembl 70_37 +1 known missense c.1117 p.E373Q 0.004 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 - no_errors ADAM18 HGNC ADCY6 112 genome.wustl.edu 37 12 49162768 49162768 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 49162768 49162768 C T SNP ADCY6 ENST00000307885 human ensembl 70_37 -1 known silent c.3333 p.V1111 0.994 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC AFF3 3899 genome.wustl.edu 37 2 100289020 100289020 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 100289020 100289020 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.1198 p.D400N 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AHI1 54806 genome.wustl.edu 37 6 135751040 135751040 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 135751040 135751040 C G SNP AHI1 ENST00000265602 human ensembl 70_37 -1 known missense c.2472 p.L824F 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC AKAP13 11214 genome.wustl.edu 37 15 86087109 86087109 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 86087109 86087109 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.585 p.I195M 0.987 superfamily_Ankyrin_rpt-contain_dom pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ALOXE3 59344 genome.wustl.edu 37 17 8000035 8000035 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 8000035 8000035 G C SNP ALOXE3 ENST00000318227 human ensembl 70_37 -1 known missense c.2442 p.I814M 0.999 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C - no_errors ALOXE3 HGNC ALPK3 57538 genome.wustl.edu 37 15 85383981 85383981 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 85383981 85383981 G C SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known missense c.2077 p.E693Q 0.876 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ALX1 8092 genome.wustl.edu 37 12 85695176 85695176 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 85695176 85695176 G C SNP ALX1 ENST00000316824 human ensembl 70_37 +1 known missense c.904 p.E302Q 1.000 pfam_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors ALX1 HGNC AMBRA1 55626 genome.wustl.edu 37 11 46569828 46569828 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 46569828 46569828 C G SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known missense c.103 p.D35H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139889366 139889366 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 139889366 139889366 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.3910 p.H1304Y 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC APEX1 328 genome.wustl.edu 37 14 20923756 20923756 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 20923756 20923756 G A SNP APEX1 ENST00000556296 human ensembl 70_37 +1 putative rna NULL NULL 0.105 - - - no_errors APEX1 HGNC AQPEP 206338 genome.wustl.edu 37 5 115339016 115339016 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 115339016 115339016 G C SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known missense c.1976 p.R659T 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ARAP3 64411 genome.wustl.edu 37 5 141033523 141033523 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 141033523 141033523 G C SNP ARAP3 ENST00000239440 human ensembl 70_37 -1 known silent c.4629 p.L1543 1.000 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ASAH2 56624 genome.wustl.edu 37 10 51974603 51974603 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 51974603 51974603 G A SNP ASAH2 ENST00000395526 human ensembl 70_37 -1 known missense c.1040 p.S347L 1.000 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2 HGNC BAAT 570 genome.wustl.edu 37 9 104133675 104133675 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 104133675 104133675 C G SNP BAAT ENST00000259407 human ensembl 70_37 -1 known missense c.12 p.L4F 0.560 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC BAP1 8314 genome.wustl.edu 37 3 52437848 52437848 + Nonsense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 52437848 52437848 G C SNP BAP1 ENST00000460680 human ensembl 70_37 -1 known nonsense c.1313 p.S438* 0.957 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC BARHL2 343472 genome.wustl.edu 37 1 91182448 91182448 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 91182448 91182448 G A SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known missense c.305 p.T102M 0.991 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC C12orf52 84934 genome.wustl.edu 37 12 113624747 113624747 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 113624747 113624747 G A SNP C12orf52 ENST00000436053 human ensembl 70_37 +1 known missense c.196 p.V66M 0.000 NULL NULL - no_errors C12orf52 HGNC C20orf24 55969 genome.wustl.edu 37 20 35238037 35238037 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 35238037 35238037 C G SNP C20orf24 ENST00000373852 human ensembl 70_37 +1 known silent c.252 p.L84 1.000 NULL NULL - no_errors C20orf24 HGNC CAPRIN1 4076 genome.wustl.edu 37 11 34097786 34097786 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 34097786 34097786 C G SNP CAPRIN1 ENST00000341394 human ensembl 70_37 +1 known missense c.370 p.Q124E 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC CCDC108 255101 genome.wustl.edu 37 2 219875665 219875665 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 219875665 219875665 G A SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known silent c.4011 p.T1337 0.171 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC CCDC57 284001 genome.wustl.edu 37 17 80151681 80151681 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 80151681 80151681 G A SNP CCDC57 ENST00000389641 human ensembl 70_37 -1 known missense c.802 p.H268Y 0.083 NULL NULL - no_errors CCDC57 HGNC CCNK 8812 genome.wustl.edu 37 14 99976674 99976674 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 99976674 99976674 C G SNP CCNK ENST00000389879 human ensembl 70_37 +1 known missense c.1298 p.S433C 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNK HGNC CEP76 79959 genome.wustl.edu 37 18 12699876 12699876 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 18 12699876 12699876 G C SNP CEP76 ENST00000262127 human ensembl 70_37 -1 known missense c.248 p.S83C 0.996 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP76 HGNC CHD4 1108 genome.wustl.edu 37 12 6707155 6707155 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 6707155 6707155 C G SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known missense c.1797 p.K599N 1.000 superfamily_Chromodomain-like 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 CHN1 1123 genome.wustl.edu 37 2 175673663 175673663 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 175673663 175673663 C T SNP CHN1 ENST00000409900 human ensembl 70_37 -1 known missense c.1072 p.D358N 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC CNGB3 54714 genome.wustl.edu 37 8 87588313 87588313 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 87588313 87588313 C T SNP CNGB3 ENST00000320005 human ensembl 70_37 -1 known missense c.2149 p.E717K 0.389 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC CNTLN 54875 genome.wustl.edu 37 9 17502646 17502646 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 17502646 17502646 G C SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.4217 p.R1406T 0.555 NULL superfamily_Prefoldin - no_errors CNTLN HGNC CNTNAP1 8506 genome.wustl.edu 37 17 40844536 40844536 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 40844536 40844536 C T SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known silent c.2550 p.F850 0.856 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC COL4A2 1284 genome.wustl.edu 37 13 111088655 111088655 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 13 111088655 111088655 G T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known missense c.766 p.D256Y 0.049 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC COL8A1 1295 genome.wustl.edu 37 3 99514078 99514078 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 99514078 99514078 G A SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.1333 p.E445K 1.000 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC CREBBP 1387 genome.wustl.edu 37 16 3794922 3794922 + Nonsense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 3794922 3794922 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known nonsense c.3955 p.R1319* 0.990 superfamily_Znf_FYVE_PHD 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 CX3CL1 6376 genome.wustl.edu 37 16 57416206 57416206 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 57416206 57416206 G A SNP CX3CL1 ENST00000006053 human ensembl 70_37 +1 known silent c.456 p.G152 0.136 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1 - no_errors CX3CL1 HGNC CXorf40B 541578 genome.wustl.edu 37 X 149100845 149100845 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 149100845 149100845 C T SNP CXorf40B ENST00000355203 human ensembl 70_37 -1 known missense c.394 p.E132K 0.781 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40B HGNC DCC 1630 genome.wustl.edu 37 18 50731697 50731697 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 18 50731697 50731697 G C SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.1685 p.R562T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DDR2 4921 genome.wustl.edu 37 1 162746018 162746018 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 162746018 162746018 G A SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known missense c.2141 p.R714Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC DDX60 55601 genome.wustl.edu 37 4 169172224 169172224 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 169172224 169172224 C G SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.3739 p.E1247Q 0.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC DGKE 8526 genome.wustl.edu 37 17 54926195 54926195 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 54926195 54926195 G A SNP DGKE ENST00000284061 human ensembl 70_37 +1 known missense c.1027 p.D343N 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC DHX33 56919 genome.wustl.edu 37 17 5359375 5359375 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 5359375 5359375 G A SNP DHX33 ENST00000225296 human ensembl 70_37 -1 known missense c.977 p.P326L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX33 HGNC DLGAP1 9229 genome.wustl.edu 37 18 3879204 3879204 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 18 3879204 3879204 G A SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known missense c.865 p.R289W 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC DMBT1 1755 genome.wustl.edu 37 10 124402737 124402737 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 124402737 124402737 C T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known silent c.7452 p.S2484 0.006 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DNAAF2 55172 genome.wustl.edu 37 14 50094756 50094756 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 50094756 50094756 C G SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known missense c.1981 p.D661H 1.000 NULL pfam_PIH - no_errors DNAAF2 HGNC DNAAF2 55172 genome.wustl.edu 37 14 50094828 50094828 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 50094828 50094828 C G SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known missense c.1909 p.E637Q 0.872 NULL pfam_PIH - no_errors DNAAF2 HGNC DNAH6 1768 genome.wustl.edu 37 2 84913648 84913648 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 84913648 84913648 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.7104 p.L2368F 0.157 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH7 56171 genome.wustl.edu 37 2 196741270 196741270 + Missense_Mutation SNP T T G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 196741270 196741270 T G SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.6115 p.M2039L 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNM1 1759 genome.wustl.edu 37 9 130984795 130984795 + Missense_Mutation SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 130984795 130984795 C A SNP DNM1 ENST00000372923 human ensembl 70_37 +1 known missense c.1048 p.Q350K 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM1 HGNC DOCK4 9732 genome.wustl.edu 37 7 111451965 111451965 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 111451965 111451965 G A SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known missense c.2971 p.R991C 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC DUT 1854 genome.wustl.edu 37 15 48623778 48623778 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 48623778 48623778 G C SNP DUT ENST00000331200 human ensembl 70_37 +1 known silent c.66 p.A22 0.003 NULL pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf - no_errors DUT HGNC EIF2S2 8894 genome.wustl.edu 37 20 32686316 32686316 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 32686316 32686316 C G SNP EIF2S2 ENST00000374980 human ensembl 70_37 -1 known missense c.421 p.E141Q 1.000 NULL pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC EIF2S2 8894 genome.wustl.edu 37 20 32686325 32686325 + Nonsense_Mutation SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 32686325 32686325 C A SNP EIF2S2 ENST00000374980 human ensembl 70_37 -1 known nonsense c.412 p.E138* 1.000 NULL pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000203863 0 genome.wustl.edu 37 6 89675589 89675589 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 89675589 89675589 G A SNP ENSG00000203863 ENST00000369474 human ensembl 70_37 +1 known silent c.228 p.L76 0.035 NULL NULL - no_errors AL079342.1 Clone_based_ensembl_gene ENSG00000205266 0 genome.wustl.edu 37 17 18326186 18326186 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 18326186 18326186 G C SNP ENSG00000205266 ENST00000444070 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AL353997.3 Clone_based_vega_gene ENSG00000205312 0 genome.wustl.edu 37 17 16754841 16754841 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 16754841 16754841 G A SNP ENSG00000205312 ENST00000579363 human ensembl 70_37 -1 putative rna NULL NULL 0.016 - - - no_errors AC022596.2 Clone_based_vega_gene ENSG00000226668 0 genome.wustl.edu 37 9 95647822 95647822 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 95647822 95647822 G C SNP ENSG00000226668 ENST00000446878 human ensembl 70_37 +1 putative rna NULL NULL 0.075 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000231171 0 genome.wustl.edu 37 4 178897087 178897087 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 178897087 178897087 C G SNP ENSG00000231171 ENST00000507870 human ensembl 70_37 +1 putative missense c.290 p.S97C 0.000 NULL NULL - no_errors RP11-389E17.1 Clone_based_vega_gene ENSG00000233421 0 genome.wustl.edu 37 1 16862024 16862024 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 16862024 16862024 G A SNP ENSG00000233421 ENST00000415386 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-875O13.1 Clone_based_vega_gene ENSG00000254988 0 genome.wustl.edu 37 11 76669957 76669957 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 76669957 76669957 C G SNP ENSG00000254988 ENST00000530190 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-2547H18.1 Clone_based_vega_gene ENSG00000266999 0 genome.wustl.edu 37 17 34233513 34233513 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 34233513 34233513 G A SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 0 genome.wustl.edu 37 17 34236597 34236597 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 34236597 34236597 G A SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene EP400 57634 genome.wustl.edu 37 12 132498441 132498441 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 132498441 132498441 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known silent c.4014 p.D1338 0.925 pfam_SNF2_N pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC EPHA5 2044 genome.wustl.edu 37 4 66201813 66201813 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 66201813 66201813 G A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known silent c.2689 p.L897 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom 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 EPHB6 2051 genome.wustl.edu 37 7 142566338 142566338 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 142566338 142566338 C T SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known silent c.2127 p.A709 0.002 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 EPHB6 HGNC ERC1 23085 genome.wustl.edu 37 12 1192462 1192462 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 1192462 1192462 C G SNP ERC1 ENST00000360905 human ensembl 70_37 +1 known missense c.802 p.Q268E 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ESYT3 83850 genome.wustl.edu 37 3 138191231 138191231 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 138191231 138191231 G C SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known silent c.1767 p.L589 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC EXOC3L2 90332 genome.wustl.edu 37 19 45716518 45716518 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 45716518 45716518 C T SNP EXOC3L2 ENST00000252482 human ensembl 70_37 -1 known missense c.1039 p.E347K 0.001 pfam_Sec6 pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC FABP5P3 220832 genome.wustl.edu 37 7 152139910 152139910 + RNA SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 152139910 152139910 G T SNP FABP5P3 ENST00000477993 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors FABP5P3 HGNC FAM101A 144347 genome.wustl.edu 37 12 124798824 124798824 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 124798824 124798824 G T SNP FAM101A ENST00000389727 human ensembl 70_37 +1 known missense c.404 p.S135I 1.000 NULL NULL - no_errors FAM101A HGNC FAM13A 10144 genome.wustl.edu 37 4 89772307 89772307 + Missense_Mutation SNP T T C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 89772307 89772307 T C SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known missense c.871 p.I291V 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC FAM47C 442444 genome.wustl.edu 37 X 37027642 37027642 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 37027642 37027642 G A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.1159 p.V387I 0.001 NULL NULL - no_errors FAM47C HGNC FBXL16 146330 genome.wustl.edu 37 16 745768 745768 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 745768 745768 G A SNP FBXL16 ENST00000324361 human ensembl 70_37 -1 known silent c.789 p.I263 1.000 smart_Leu-rich_rpt_Cys-con_subtyp superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC FBXW10 10517 genome.wustl.edu 37 17 18647791 18647791 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 18647791 18647791 G C SNP FBXW10 ENST00000308799 human ensembl 70_37 +1 known missense c.234 p.Q78H 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC FCAMR 83953 genome.wustl.edu 37 1 207133999 207133999 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 207133999 207133999 C G SNP FCAMR ENST00000324852 human ensembl 70_37 -1 novel missense c.1222 p.E408Q 0.011 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors FCAMR HGNC FES 2242 genome.wustl.edu 37 15 91433650 91433650 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 91433650 91433650 G A SNP FES ENST00000328850 human ensembl 70_37 +1 known missense c.1256 p.G419E 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors FES HGNC FMNL1 752 genome.wustl.edu 37 17 43314692 43314692 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 43314692 43314692 G C SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.768 p.E256D 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC FMNL1 752 genome.wustl.edu 37 17 43314951 43314951 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 43314951 43314951 G C SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.839 p.C280S 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC FMNL1 752 genome.wustl.edu 37 17 43322670 43322670 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 43322670 43322670 G C SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.2779 p.E927Q 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC FNBP1 23048 genome.wustl.edu 37 9 132658209 132658209 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 132658209 132658209 C T SNP FNBP1 ENST00000372416 human ensembl 70_37 -1 known missense c.1754 p.G585D 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1 HGNC FOS 2353 genome.wustl.edu 37 14 75747316 75747316 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 75747316 75747316 G A SNP FOS ENST00000303562 human ensembl 70_37 +1 known missense c.447 p.M149I 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOS HGNC GALNS 2588 genome.wustl.edu 37 16 88902139 88902139 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 88902139 88902139 C T SNP GALNS ENST00000268695 human ensembl 70_37 -1 known missense c.752 p.R251Q 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC GFM2 84340 genome.wustl.edu 37 5 74017486 74017486 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 74017486 74017486 C G SNP GFM2 ENST00000296805 human ensembl 70_37 -1 known missense c.2334 p.L778F 0.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC GLUL 2752 genome.wustl.edu 37 1 182359685 182359685 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 182359685 182359685 C G SNP GLUL ENST00000480604 human ensembl 70_37 -1 known rna NULL NULL 0.498 - - - no_errors GLUL HGNC GNAI1 2770 genome.wustl.edu 37 7 79840295 79840295 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 79840295 79840295 G A SNP GNAI1 ENST00000351004 human ensembl 70_37 +1 known missense c.601 p.V201M 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI1 HGNC GOLGA8DP 100132979 genome.wustl.edu 37 15 22709084 22709084 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 22709084 22709084 G A SNP GOLGA8DP ENST00000314246 human ensembl 70_37 -1 known rna NULL NULL 0.891 - - - no_errors GOLGA8DP HGNC GPR39 2863 genome.wustl.edu 37 2 133403010 133403010 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 133403010 133403010 G T SNP GPR39 ENST00000329321 human ensembl 70_37 +1 known missense c.1193 p.R398L 0.801 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC GPR4 2828 genome.wustl.edu 37 19 46094537 46094537 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 46094537 46094537 G C SNP GPR4 ENST00000323040 human ensembl 70_37 -1 known silent c.588 p.L196 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR4 HGNC GRM8 2918 genome.wustl.edu 37 7 126544686 126544686 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 126544686 126544686 C G SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.779 p.G260A 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC GUK1 2987 genome.wustl.edu 37 1 228334423 228334423 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 228334423 228334423 G A SNP GUK1 ENST00000470040 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GUK1 HGNC HERC2P9 440248 genome.wustl.edu 37 15 28886645 28886645 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 28886645 28886645 C T SNP HERC2P9 ENST00000529353 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors HERC2P9 HGNC HPS4 89781 genome.wustl.edu 37 22 26873059 26873059 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 26873059 26873059 C G SNP HPS4 ENST00000398141 human ensembl 70_37 -1 known missense c.161 p.G54A 0.999 NULL NULL - no_errors HPS4 HGNC HSPA8 3312 genome.wustl.edu 37 11 122928971 122928971 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 122928971 122928971 C T SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.1744 p.D582N 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC HTR1A 3350 genome.wustl.edu 37 5 63257096 63257096 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 63257096 63257096 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known missense c.451 p.R151W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC HTR3E 285242 genome.wustl.edu 37 3 183823717 183823717 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 183823717 183823717 G A SNP HTR3E ENST00000335304 human ensembl 70_37 +1 known missense c.930 p.M310I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC IDS 3423 genome.wustl.edu 37 X 148571887 148571887 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 148571887 148571887 G C SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.964 p.Q322E 0.987 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC IFITM10 402778 genome.wustl.edu 37 11 1756472 1756472 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 1756472 1756472 C T SNP IFITM10 ENST00000482459 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors IFITM10 HGNC IKZF1 10320 genome.wustl.edu 37 7 50435616 50435617 + RNA INS - - A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 50435616 50435617 - A INS IKZF1 ENST00000492119 human ensembl 70_37 +1 putative rna NULL NULL 0.001:0.001 - - - no_errors IKZF1 HGNC IL1RAPL1 11141 genome.wustl.edu 37 X 29301125 29301125 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 29301125 29301125 C T SNP IL1RAPL1 ENST00000302196 human ensembl 70_37 +1 known silent c.153 p.I51 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL1RAPL1 HGNC INHBB 3625 genome.wustl.edu 37 2 121106682 121106682 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 121106682 121106682 C T SNP INHBB ENST00000295228 human ensembl 70_37 +1 known silent c.456 p.L152 0.004 pfam_TGF-b_N,prints_Inhibin_betaB pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC INSRR 3645 genome.wustl.edu 37 1 156821165 156821165 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 156821165 156821165 G C SNP INSRR ENST00000368195 human ensembl 70_37 -1 known silent c.1146 p.L382 1.000 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC IQSEC2 23096 genome.wustl.edu 37 X 53276287 53276287 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 53276287 53276287 G A SNP IQSEC2 ENST00000396435 human ensembl 70_37 -1 known silent c.2613 p.L871 0.580 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC KCNK4 50801 genome.wustl.edu 37 11 64064417 64064417 + Nonsense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 64064417 64064417 C T SNP KCNK4 ENST00000538767 human ensembl 70_37 +1 putative nonsense c.58 p.Q20* 1.000 NULL NULL - no_errors KCNK4 HGNC KDM2A 22992 genome.wustl.edu 37 11 66985142 66985142 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 66985142 66985142 G C SNP KDM2A ENST00000525379 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors KDM2A HGNC KIAA1644 85352 genome.wustl.edu 37 22 44692659 44692659 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 44692659 44692659 G C SNP KIAA1644 ENST00000381176 human ensembl 70_37 -1 putative silent c.174 p.L58 0.996 NULL NULL - no_errors KIAA1644 HGNC KIF26A 26153 genome.wustl.edu 37 14 104641549 104641549 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 104641549 104641549 C T SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known silent c.2424 p.N808 0.794 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC KLK11 11012 genome.wustl.edu 37 19 51530213 51530213 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 51530213 51530213 C G SNP KLK11 ENST00000594458 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors KLK11 HGNC KRT3 3850 genome.wustl.edu 37 12 53185154 53185154 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 53185154 53185154 G A SNP KRT3 ENST00000309505 human ensembl 70_37 -1 known silent c.1371 p.L457 1.000 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC KRT32 3882 genome.wustl.edu 37 17 39623183 39623183 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 39623183 39623183 G C SNP KRT32 ENST00000225899 human ensembl 70_37 -1 known missense c.395 p.S132C 0.008 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC LGI4 163175 genome.wustl.edu 37 19 35622312 35622312 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 35622312 35622312 C G SNP LGI4 ENST00000310123 human ensembl 70_37 -1 known missense c.606 p.K202N 0.443 smart_Cys-rich_flank_reg_C pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC LIPH 200879 genome.wustl.edu 37 3 185236975 185236975 + Missense_Mutation SNP A A G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 185236975 185236975 A G SNP LIPH ENST00000296252 human ensembl 70_37 -1 known missense c.841 p.C281R 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC LOC344967 344967 genome.wustl.edu 37 4 40045242 40045242 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 40045242 40045242 G C SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 0.232 - - - no_errors RP11-333E13.4 Clone_based_vega_gene LOC642633 642633 genome.wustl.edu 37 22 21538476 21538476 + RNA SNP A A C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 21538476 21538476 A C SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KB-1183D5.11 Clone_based_vega_gene LRRIQ1 84125 genome.wustl.edu 37 12 85432072 85432072 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 85432072 85432072 G C SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known missense c.118 p.D40H 0.354 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC LSM14B 149986 genome.wustl.edu 37 20 60702804 60702804 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 60702804 60702804 G C SNP LSM14B ENST00000253001 human ensembl 70_37 +1 known silent c.591 p.L197 0.004 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC MACF1 23499 genome.wustl.edu 37 1 39951743 39951743 + RNA DEL A A - TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 39951743 39951743 A - DEL MACF1 ENST00000496360 human ensembl 70_37 +1 known rna NULL NULL 0.084 - - - no_errors MACF1 HGNC MAP3K10 4294 genome.wustl.edu 37 19 40720877 40720877 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 40720877 40720877 G A SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known missense c.2543 p.G848D 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC MB21D2 151963 genome.wustl.edu 37 3 192516904 192516904 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 192516904 192516904 C G SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known missense c.747 p.Q249H 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC MBL1P 8512 genome.wustl.edu 37 10 81664738 81664738 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 81664738 81664738 C T SNP MBL1P ENST00000453174 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors MBL1P HGNC MECOM 2122 genome.wustl.edu 37 3 168833226 168833226 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 168833226 168833226 C G SNP MECOM ENST00000494292 human ensembl 70_37 -1 known missense c.2434 p.D812H 0.998 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC MED12 9968 genome.wustl.edu 37 X 70341487 70341487 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 70341487 70341487 C G SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.922 p.Q308E 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC MEMO1 51072 genome.wustl.edu 37 2 32093552 32093552 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 32093552 32093552 C G SNP MEMO1 ENST00000379383 human ensembl 70_37 -1 known missense c.781 p.E261Q 1.000 pfam_UPF0103/Memo-related pfam_UPF0103/Memo-related - no_errors MEMO1 HGNC METTL18 92342 genome.wustl.edu 37 1 169761916 169761916 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 169761916 169761916 C G SNP METTL18 ENST00000303469 human ensembl 70_37 -1 known missense c.921 p.Q307H 0.022 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL18 HGNC MGRN1 23295 genome.wustl.edu 37 16 4731718 4731718 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 4731718 4731718 C T SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known silent c.1299 p.I433 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC MIB2 142678 genome.wustl.edu 37 1 1551903 1551903 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 1551903 1551903 G A SNP MIB2 ENST00000505820 human ensembl 70_37 +1 known missense c.190 p.E64K 0.000 NULL pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC MICALCL 84953 genome.wustl.edu 37 11 12348766 12348766 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 12348766 12348766 C T SNP MICALCL ENST00000256186 human ensembl 70_37 +1 known missense c.1682 p.S561F 0.000 pfam_DUF3585 pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC KMT2C 58508 genome.wustl.edu 37 7 151917668 151917668 + Nonsense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 151917668 151917668 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3652 p.Q1218* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MPC1 51660 genome.wustl.edu 37 6 166778863 166778863 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 166778863 166778863 C G SNP MPC1 ENST00000475708 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors MPC1 HGNC MXRA5 25878 genome.wustl.edu 37 X 3240795 3240795 + Nonsense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 3240795 3240795 G C SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known nonsense c.2931 p.Y977* 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MYH1 4619 genome.wustl.edu 37 17 10406094 10406094 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 10406094 10406094 C T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known silent c.3072 p.L1024 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC MYT1 4661 genome.wustl.edu 37 20 62848481 62848481 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 62848481 62848481 G T SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known missense c.1693 p.A565S 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC NACAD 23148 genome.wustl.edu 37 7 45125617 45125617 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 45125617 45125617 G A SNP NACAD ENST00000490531 human ensembl 70_37 -1 known silent c.162 p.L54 0.001 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC NAT1 9 genome.wustl.edu 37 8 18080384 18080384 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 18080384 18080384 G C SNP NAT1 ENST00000545197 human ensembl 70_37 +1 known missense c.1014 p.Q338H 0.003 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT1 HGNC NBPF20 100288142 genome.wustl.edu 37 1 148252752 148252752 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 148252752 148252752 C G SNP NBPF20 ENST00000369202 human ensembl 70_37 -1 known missense c.13600 p.D4534H 0.048 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF20 HGNC NCL 4691 genome.wustl.edu 37 2 232326377 232326377 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 232326377 232326377 C T SNP NCL ENST00000322723 human ensembl 70_37 -1 known missense c.487 p.E163K 0.704 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC NEB 4703 genome.wustl.edu 37 2 152419320 152419320 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 152419320 152419320 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.18696 p.L6232 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NPBWR1 2831 genome.wustl.edu 37 8 53852812 53852812 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 53852812 53852812 C T SNP NPBWR1 ENST00000331251 human ensembl 70_37 +1 known silent c.345 p.I115 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC NSD1 64324 genome.wustl.edu 37 5 176687059 176687059 + Nonsense_Mutation SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 176687059 176687059 C A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known nonsense c.5036 p.S1679* 1.000 smart_Znf_PHD pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC OPRM1 4988 genome.wustl.edu 37 6 154414441 154414441 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 154414441 154414441 G C SNP OPRM1 ENST00000229768 human ensembl 70_37 +1 known missense c.1201 p.E401Q 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRM1 HGNC OR13D1 286365 genome.wustl.edu 37 9 107457367 107457367 + Nonsense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 107457367 107457367 C G SNP OR13D1 ENST00000318763 human ensembl 70_37 +1 known nonsense c.665 p.S222* 0.201 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR13D1 HGNC OR2D3 120775 genome.wustl.edu 37 11 6942995 6942995 + Missense_Mutation SNP T T G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 6942995 6942995 T G SNP OR2D3 ENST00000317834 human ensembl 70_37 +1 known missense c.763 p.S255A 0.037 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC PACS1 55690 genome.wustl.edu 37 11 65983654 65983654 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 65983654 65983654 C G SNP PACS1 ENST00000320580 human ensembl 70_37 +1 known missense c.725 p.S242C 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC PARD6G 84552 genome.wustl.edu 37 18 77918347 77918347 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 18 77918347 77918347 G A SNP PARD6G ENST00000353265 human ensembl 70_37 -1 known silent c.438 p.I146 1.000 superfamily_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC PCDHGB8P 56120 genome.wustl.edu 37 5 140806704 140806704 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 5 140806704 140806704 G A SNP PCDHGB8P ENST00000502926 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHGB8P HGNC PDE12 201626 genome.wustl.edu 37 3 57543266 57543266 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 57543266 57543266 G A SNP PDE12 ENST00000311180 human ensembl 70_37 +1 known missense c.1160 p.R387Q 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC PKD1 5310 genome.wustl.edu 37 16 2159612 2159612 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 2159612 2159612 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.5556 p.V1852 0.000 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 PKD1P6 353511 genome.wustl.edu 37 16 15230482 15230482 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 15230482 15230482 C T SNP PKD1P6 ENST00000538100 human ensembl 70_37 -1 known rna NULL NULL 0.871 - - - no_errors PKD1P6 HGNC PKDREJ 10343 genome.wustl.edu 37 22 46654350 46654350 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 46654350 46654350 G A SNP PKDREJ ENST00000253255 human ensembl 70_37 -1 known silent c.4870 p.L1624 0.012 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKDREJ HGNC PKDREJ 10343 genome.wustl.edu 37 22 46654366 46654366 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 46654366 46654366 G A SNP PKDREJ ENST00000253255 human ensembl 70_37 -1 known silent c.4854 p.F1618 0.005 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKDREJ HGNC PLA2R1 22925 genome.wustl.edu 37 2 160885430 160885430 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 160885430 160885430 G C SNP PLA2R1 ENST00000283243 human ensembl 70_37 -1 known missense c.886 p.Q296E 1.000 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,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 - no_errors PLA2R1 HGNC PLAU 5328 genome.wustl.edu 37 10 75673834 75673834 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 75673834 75673834 C T SNP PLAU ENST00000372764 human ensembl 70_37 +1 known silent c.777 p.L259 0.988 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAU HGNC PNMA1 9240 genome.wustl.edu 37 14 74180160 74180160 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 74180160 74180160 C T SNP PNMA1 ENST00000316836 human ensembl 70_37 -1 known silent c.183 p.A61 0.994 NULL superfamily_Globin-like - no_errors PNMA1 HGNC POLR2A 5430 genome.wustl.edu 37 17 7401106 7401106 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 7401106 7401106 C G SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known silent c.1119 p.L373 0.982 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC PPL 5493 genome.wustl.edu 37 16 4960929 4960929 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 4960929 4960929 C T SNP PPL ENST00000345988 human ensembl 70_37 -1 known silent c.84 p.S28 0.977 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPP1R12B 4660 genome.wustl.edu 37 1 202550187 202550187 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 202550187 202550187 G C SNP PPP1R12B ENST00000290419 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP1R12B HGNC PRAMEF7 441871 genome.wustl.edu 37 1 12979858 12979858 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 12979858 12979858 G A SNP PRAMEF7 ENST00000330881 human ensembl 70_37 +1 known silent c.1050 p.L350 0.493 NULL NULL - no_errors PRAMEF7 HGNC PRKAA2 5563 genome.wustl.edu 37 1 57158046 57158046 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 57158046 57158046 G A SNP PRKAA2 ENST00000371244 human ensembl 70_37 +1 known missense c.346 p.A116T 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,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA2 HGNC PRKCI 5584 genome.wustl.edu 37 3 169998171 169998171 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 169998171 169998171 G C SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.862 p.E288Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC PSMB2 5690 genome.wustl.edu 37 1 36107024 36107024 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 36107024 36107024 G A SNP PSMB2 ENST00000373237 human ensembl 70_37 -1 known missense c.10 p.L4F 1.000 NULL pfam_Proteasome_sua/b - no_errors PSMB2 HGNC PTGFRN 5738 genome.wustl.edu 37 1 117509918 117509918 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 117509918 117509918 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known silent c.2025 p.L675 0.988 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC PTPN4 5775 genome.wustl.edu 37 2 120702805 120702805 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 120702805 120702805 G A SNP PTPN4 ENST00000263708 human ensembl 70_37 +1 known missense c.1504 p.E502K 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN4 HGNC PZP 5858 genome.wustl.edu 37 12 9346779 9346779 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 9346779 9346779 G A SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.1148 p.S383F 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC RBM3 5935 genome.wustl.edu 37 X 48433775 48433775 + RNA SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 48433775 48433775 C T SNP RBM3 ENST00000491240 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RBM3 HGNC REEP4 80346 genome.wustl.edu 37 8 21995954 21995954 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 21995954 21995954 G C SNP REEP4 ENST00000523293 human ensembl 70_37 -1 putative missense c.665 p.S222C 0.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC RFX7 64864 genome.wustl.edu 37 15 56394437 56394437 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 56394437 56394437 C T SNP RFX7 ENST00000423270 human ensembl 70_37 -1 known missense c.533 p.G178E 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC RGAG4 340526 genome.wustl.edu 37 X 71350409 71350409 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 71350409 71350409 G A SNP RGAG4 ENST00000479991 human ensembl 70_37 -1 known missense c.982 p.P328S 0.001 NULL pfam_Retrotrans_gag - no_errors RGAG4 HGNC RTN1 6252 genome.wustl.edu 37 14 60074196 60074196 + Missense_Mutation SNP A A T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 60074196 60074196 A T SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.1780 p.Y594N 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC SCAMP3 10067 genome.wustl.edu 37 1 155231477 155231477 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 155231477 155231477 C G SNP SCAMP3 ENST00000302631 human ensembl 70_37 -1 known missense c.115 p.D39H 1.000 NULL pfam_SCAMP - no_errors SCAMP3 HGNC SCRIB 23513 genome.wustl.edu 37 8 144891727 144891727 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 144891727 144891727 G A SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known silent c.1692 p.Y564 0.337 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SCRIB 23513 genome.wustl.edu 37 8 144894477 144894477 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 8 144894477 144894477 C G SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.865 p.E289Q 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SDK1 221935 genome.wustl.edu 37 7 4213923 4213923 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 4213923 4213923 G A SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.4870 p.E1624K 0.956 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC SEZ6L 23544 genome.wustl.edu 37 22 26707926 26707926 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 26707926 26707926 G C SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known missense c.1874 p.R625T 1.000 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC SF1 7536 genome.wustl.edu 37 11 64536711 64536711 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 64536711 64536711 G A SNP SF1 ENST00000377390 human ensembl 70_37 -1 known missense c.763 p.R255W 0.989 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC SH3TC1 54436 genome.wustl.edu 37 4 8228872 8228872 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 8228872 8228872 C T SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.1451 p.S484F 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC SIDT2 51092 genome.wustl.edu 37 11 117050146 117050146 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 117050146 117050146 C T SNP SIDT2 ENST00000278951 human ensembl 70_37 +1 known missense c.167 p.T56I 1.000 NULL NULL - no_errors SIDT2 HGNC SLC12A3 6559 genome.wustl.edu 37 16 56920999 56920999 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 16 56920999 56920999 C T SNP SLC12A3 ENST00000438926 human ensembl 70_37 +1 known silent c.2172 p.L724 0.950 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC SLC24A1 9187 genome.wustl.edu 37 15 65917451 65917451 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 65917451 65917451 C G SNP SLC24A1 ENST00000261892 human ensembl 70_37 +1 known missense c.1033 p.L345V 0.000 tigrfam_K-dep_Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC SLC25A47 283600 genome.wustl.edu 37 14 100795252 100795252 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 100795252 100795252 G A SNP SLC25A47 ENST00000361529 human ensembl 70_37 +1 known missense c.517 p.E173K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC SLC6A5 9152 genome.wustl.edu 37 11 20676507 20676507 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 20676507 20676507 C G SNP SLC6A5 ENST00000528440 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors SLC6A5 HGNC SLC6A6 6533 genome.wustl.edu 37 3 14485210 14485210 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 14485210 14485210 G T SNP SLC6A6 ENST00000360861 human ensembl 70_37 +1 known missense c.68 p.G23V 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC SLC9B1 150159 genome.wustl.edu 37 4 103831685 103831685 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 103831685 103831685 C T SNP SLC9B1 ENST00000296422 human ensembl 70_37 -1 known missense c.997 p.G333S 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC SMCR7L 54471 genome.wustl.edu 37 22 39908332 39908332 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 39908332 39908332 C G SNP SMCR7L ENST00000325301 human ensembl 70_37 +1 known missense c.418 p.L140V 0.998 NULL NULL - no_errors SMCR7L HGNC SMEK1 55671 genome.wustl.edu 37 14 91929188 91929188 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 91929188 91929188 C G SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.1864 p.E622Q 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC SMG6 23293 genome.wustl.edu 37 17 1990372 1990372 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 1990372 1990372 G A SNP SMG6 ENST00000573166 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors SMG6 HGNC SMG8 55181 genome.wustl.edu 37 17 57289129 57289129 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 57289129 57289129 G A SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.1717 p.D573N 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC SNORD116-20 100033431 genome.wustl.edu 37 15 25332843 25332843 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 25332843 25332843 G A SNP SNORD116-20 ENST00000384529 human ensembl 70_37 +1 known rna NULL NULL 0.966 - - - no_errors SNORD116-20 HGNC SNORD116-20 100033431 genome.wustl.edu 37 15 25332850 25332850 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 25332850 25332850 G A SNP SNORD116-20 ENST00000384529 human ensembl 70_37 +1 known rna NULL NULL 0.976 - - - no_errors SNORD116-20 HGNC SNX9 51429 genome.wustl.edu 37 6 158288594 158288594 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 158288594 158288594 G C SNP SNX9 ENST00000392185 human ensembl 70_37 +1 known missense c.28 p.D10H 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Snx9,pfscan_SH3_domain pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131346188 131346188 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 131346188 131346188 C G SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known silent c.2133 p.T711 0.995 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SPATA42 642864 genome.wustl.edu 37 1 109400025 109400025 + RNA SNP A A T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 109400025 109400025 A T SNP SRG7 ENST00000369989 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-475E11.5 Clone_based_vega_gene SRPX2 27286 genome.wustl.edu 37 X 99920345 99920345 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 99920345 99920345 C T SNP SRPX2 ENST00000373004 human ensembl 70_37 +1 known missense c.638 p.S213F 1.000 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC SSBP4 170463 genome.wustl.edu 37 19 18544419 18544419 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 18544419 18544419 C G SNP SSBP4 ENST00000270061 human ensembl 70_37 +1 known missense c.1016 p.P339R 1.000 pfam_SSDP_ss-bd pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP4 HGNC STAT2 6773 genome.wustl.edu 37 12 56748604 56748604 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 56748604 56748604 C T SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.591 p.K197 0.008 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC STAT2 6773 genome.wustl.edu 37 12 56749109 56749109 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 56749109 56749109 C T SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.498 p.L166 0.996 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC STXBP4 252983 genome.wustl.edu 37 17 53068305 53068305 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 17 53068305 53068305 G C SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.167 p.G56A 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC T 6862 genome.wustl.edu 37 6 166579199 166579199 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 166579199 166579199 C T SNP T ENST00000296946 human ensembl 70_37 -1 known missense c.601 p.E201K 0.963 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box - no_errors T HGNC TAF1B 9014 genome.wustl.edu 37 2 10051016 10051016 + Silent SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 10051016 10051016 C G SNP TAF1B ENST00000263663 human ensembl 70_37 +1 known silent c.1107 p.L369 0.992 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC TAF1L 138474 genome.wustl.edu 37 9 32631420 32631420 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 32631420 32631420 C G SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.4158 p.L1386F 1.000 pirsf_TAF1_animal,superfamily_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TAS2R41 259287 genome.wustl.edu 37 7 143175387 143175387 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 143175387 143175387 C G SNP TAS2R41 ENST00000408916 human ensembl 70_37 +1 known missense c.422 p.S141C 0.124 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC TBC1D2B 23102 genome.wustl.edu 37 15 78293968 78293968 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 78293968 78293968 C G SNP TBC1D2B ENST00000300584 human ensembl 70_37 -1 known missense c.2689 p.D897H 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC TBL1XR1 79718 genome.wustl.edu 37 3 176767838 176767838 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 176767838 176767838 C G SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.649 p.E217Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC TESK2 10420 genome.wustl.edu 37 1 45809610 45809610 + RNA DEL A A - TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 45809610 45809610 A - DEL TESK2 ENST00000486676 human ensembl 70_37 -1 known rna NULL NULL 0.794 - - - no_errors TESK2 HGNC THSD7B 80731 genome.wustl.edu 37 2 137814668 137814668 + Nonsense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 2 137814668 137814668 C G SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known nonsense c.818 p.S273* 0.995 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TIE1 7075 genome.wustl.edu 37 1 43785150 43785150 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 43785150 43785150 G C SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.3057 p.W1019C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC TLR10 81793 genome.wustl.edu 37 4 38777922 38777922 + RNA SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 4 38777922 38777922 G A SNP TLR10 ENST00000507953 human ensembl 70_37 -1 known rna NULL NULL 0.705 - - - no_errors TLR10 HGNC TMC2 117532 genome.wustl.edu 37 20 2604936 2604936 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 20 2604936 2604936 G C SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.2200 p.D734H 1.000 NULL pfam_TMC - no_errors TMC2 HGNC TMCO4 255104 genome.wustl.edu 37 1 20107215 20107215 + Missense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 20107215 20107215 G T SNP TMCO4 ENST00000294543 human ensembl 70_37 -1 known missense c.37 p.Q13K 0.927 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC TMEM123 114908 genome.wustl.edu 37 11 102323292 102323292 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 102323292 102323292 C T SNP TMEM123 ENST00000398136 human ensembl 70_37 -1 known silent c.63 p.A21 0.153 NULL NULL - no_errors TMEM123 HGNC TMEM132D 121256 genome.wustl.edu 37 12 130184363 130184363 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 12 130184363 130184363 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known silent c.960 p.F320 1.000 NULL NULL - no_errors TMEM132D HGNC TMPRSS3 64699 genome.wustl.edu 37 21 43802067 43802067 + RNA SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 21 43802067 43802067 C G SNP TMPRSS3 ENST00000478680 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TMPRSS3 HGNC TOPORS 10210 genome.wustl.edu 37 9 32542047 32542047 + Nonsense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 9 32542047 32542047 G A SNP TOPORS ENST00000360538 human ensembl 70_37 -1 known nonsense c.2476 p.Q826* 0.646 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC TOX4 9878 genome.wustl.edu 37 14 21961414 21961414 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 21961414 21961414 G A SNP TOX4 ENST00000262709 human ensembl 70_37 +1 known missense c.1639 p.E547K 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC TRPC5 7224 genome.wustl.edu 37 X 111090481 111090481 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 111090481 111090481 G A SNP TRPC5 ENST00000262839 human ensembl 70_37 -1 known missense c.1561 p.L521F 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC TRPM1 4308 genome.wustl.edu 37 15 31334414 31334414 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 15 31334414 31334414 C G SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.1878 p.K626N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC TSSC2 7261 genome.wustl.edu 37 11 3430130 3430130 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 3430130 3430130 G C SNP TSSC2 ENST00000529482 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TSSC2 HGNC TTF2 8458 genome.wustl.edu 37 1 117638784 117638784 + Nonsense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 117638784 117638784 C T SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known nonsense c.3049 p.Q1017* 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC TUT1 64852 genome.wustl.edu 37 11 62342749 62342749 + Silent SNP C C A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 62342749 62342749 C A SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known silent c.2556 p.L852 0.925 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC TUT1 64852 genome.wustl.edu 37 11 62342961 62342961 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 62342961 62342961 C G SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known missense c.2344 p.E782Q 0.017 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC TUT1 64852 genome.wustl.edu 37 11 62343193 62343193 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 11 62343193 62343193 C G SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known missense c.2112 p.Q704H 0.006 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC UBR4 23352 genome.wustl.edu 37 1 19504090 19504090 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 19504090 19504090 G A SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.2502 p.V834 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34835377 34835377 + Silent SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 6 34835377 34835377 G A SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known silent c.3702 p.L1234 0.997 NULL NULL - no_errors UHRF1BP1 HGNC UQCR11 10975 genome.wustl.edu 37 19 1605403 1605403 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 1605403 1605403 C T SNP UQCR11 ENST00000262946 human ensembl 70_37 -1 known silent c.6 p.V2 0.996 pfam_Ubiquinol_cytC_Rdtase_cplx_6.4,superfamily_Ubiquinol_cytC_Rdtase_cplx_6.4 pfam_Ubiquinol_cytC_Rdtase_cplx_6.4,superfamily_Ubiquinol_cytC_Rdtase_cplx_6.4 - no_errors UQCR11 Uniprot_genename WDFY4 57705 genome.wustl.edu 37 10 49931577 49931577 + Nonsense_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 10 49931577 49931577 G T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known nonsense c.556 p.E186* 0.090 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR52 55779 genome.wustl.edu 37 3 113099823 113099823 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 3 113099823 113099823 G A SNP WDR52 ENST00000393845 human ensembl 70_37 -1 known missense c.1975 p.H659Y 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC WIPI2 26100 genome.wustl.edu 37 7 5254158 5254158 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 7 5254158 5254158 G C SNP WIPI2 ENST00000484262 human ensembl 70_37 +1 known silent c.27 p.V9 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ZAR1L 646799 genome.wustl.edu 37 13 32885503 32885503 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 13 32885503 32885503 G A SNP ZAR1L ENST00000345108 human ensembl 70_37 -1 known missense c.560 p.S187L 0.000 NULL NULL - no_errors ZAR1L HGNC ZBTB1 22890 genome.wustl.edu 37 14 64989628 64989628 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 14 64989628 64989628 G A SNP ZBTB1 ENST00000394712 human ensembl 70_37 +1 known missense c.1406 p.R469Q 0.760 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ZCCHC13 389874 genome.wustl.edu 37 X 73524601 73524601 + Nonstop_Mutation SNP G G T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 73524601 73524601 G T SNP ZCCHC13 ENST00000339534 human ensembl 70_37 +1 known nonstop c.500 p.*167L 0.994 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ZNF432 9668 genome.wustl.edu 37 19 52537665 52537665 + Missense_Mutation SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 52537665 52537665 G C SNP ZNF432 ENST00000221315 human ensembl 70_37 -1 known missense c.1267 p.H423D 1.000 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 ZNF432 HGNC ZNF432 9668 genome.wustl.edu 37 19 52538020 52538020 + Silent SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 19 52538020 52538020 G C SNP ZNF432 ENST00000221315 human ensembl 70_37 -1 known silent c.912 p.L304 0.987 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 ZNF432 HGNC ZNF630 57232 genome.wustl.edu 37 X 47918789 47918789 + Missense_Mutation SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 X 47918789 47918789 C T SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.1042 p.E348K 0.029 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 ZNF630 HGNC ZNF74 7625 genome.wustl.edu 37 22 20755625 20755625 + Nonsense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 22 20755625 20755625 G A SNP ZNF74 ENST00000356671 human ensembl 70_37 +1 known nonsense c.306 p.W102* 0.954 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ZZZ3 26009 genome.wustl.edu 37 1 78030556 78030556 + RNA SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd67384e-9fac-44c1-879d-cddd500848ca 97f1a69b-1d71-423b-8bc9-a9722681d315 1 78030556 78030556 G C SNP ZZZ3 ENST00000476275 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZZZ3 HGNC