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 ACTL6A 86 genome.wustl.edu 37 3 179287873 179287873 + Missense_Mutation SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 3 179287873 179287873 A G SNP ACTL6A ENST00000429709 human ensembl 70_37 +1 known missense c.121 p.I41V 0.998 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6A HGNC AGAP1 116987 genome.wustl.edu 37 2 236653346 236653346 + Missense_Mutation SNP C C A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 236653346 236653346 C A SNP AGAP1 ENST00000304032 human ensembl 70_37 +1 known missense c.401 p.A134D 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC AGMAT 79814 genome.wustl.edu 37 1 15904321 15904321 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 15904321 15904321 C T SNP AGMAT ENST00000375826 human ensembl 70_37 -1 known silent c.759 p.K253 1.000 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ANKRD18B 441459 genome.wustl.edu 37 9 33541216 33541216 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 33541216 33541216 G C SNP ANKRD18B ENST00000290943 human ensembl 70_37 +1 known missense c.880 p.G294R 0.009 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ANKRD36C 400986 genome.wustl.edu 37 2 96601243 96601243 + Missense_Mutation SNP T T C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 96601243 96601243 T C SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known missense c.1694 p.K565R 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC AP1B1 162 genome.wustl.edu 37 22 29727818 29727818 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 22 29727818 29727818 C T SNP AP1B1 ENST00000357586 human ensembl 70_37 -1 known silent c.2397 p.T799 0.016 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ATR 545 genome.wustl.edu 37 3 142266662 142266662 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 3 142266662 142266662 G C SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.3262 p.Q1088E 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC CASZ1 54897 genome.wustl.edu 37 1 10720361 10720361 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 10720361 10720361 G A SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.738 p.L246 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC CELSR1 9620 genome.wustl.edu 37 22 46829324 46829325 + Frame_Shift_Ins INS - - TG TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 22 46829324 46829325 - TG INS CELSR1 ENST00000262738 human ensembl 70_37 -1 known frame_shift_ins c.4577_4576 p.R1526fs 0.985:0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC CFP 5199 genome.wustl.edu 37 X 47486559 47486559 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 47486559 47486559 G A SNP CFP ENST00000247153 human ensembl 70_37 -1 known silent c.747 p.T249 0.025 pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC COLEC11 78989 genome.wustl.edu 37 2 3691438 3691438 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 3691438 3691438 C T SNP COLEC11 ENST00000418971 human ensembl 70_37 +1 known silent c.588 p.D196 0.997 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC DHPS 1725 genome.wustl.edu 37 19 12788010 12788010 + Missense_Mutation SNP T T C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 19 12788010 12788010 T C SNP DHPS ENST00000210060 human ensembl 70_37 -1 known missense c.800 p.N267S 0.999 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC DLGAP3 58512 genome.wustl.edu 37 1 35370768 35370768 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 35370768 35370768 G A SNP DLGAP3 ENST00000235180 human ensembl 70_37 -1 known missense c.217 p.P73S 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37602874 37602874 + Missense_Mutation SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 21 37602874 37602874 C G SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.1792 p.P598A 0.982 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DPY19L1 23333 genome.wustl.edu 37 7 34979922 34979922 + Silent SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 34979922 34979922 A G SNP DPY19L1 ENST00000310974 human ensembl 70_37 -1 known silent c.1488 p.F496 0.814 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC DZANK1 55184 genome.wustl.edu 37 20 18445975 18445975 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 20 18445975 18445975 G C SNP DZANK1 ENST00000262547 human ensembl 70_37 -1 known missense c.28 p.Q10E 1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENPP3 5169 genome.wustl.edu 37 6 131997896 131997896 + Missense_Mutation SNP G G T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 131997896 131997896 G T SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known missense c.893 p.R298M 0.966 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000226007 0 genome.wustl.edu 37 9 46844120 46844120 + RNA SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 46844120 46844120 C T SNP ENSG00000226007 ENST00000446626 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-211N8.2 Clone_based_vega_gene ENSG00000228763 0 genome.wustl.edu 37 2 109293261 109293261 + RNA DEL A A - TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 109293261 109293261 A - DEL ENSG00000228763 ENST00000411710 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC010095.5 Clone_based_vega_gene ENSG00000234718 0 genome.wustl.edu 37 7 7782128 7782128 + RNA SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 7782128 7782128 C T SNP ENSG00000234718 ENST00000418534 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC007161.5 Clone_based_vega_gene ENSG00000260158 0 genome.wustl.edu 37 16 32822155 32822155 + RNA SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 16 32822155 32822155 C G SNP ENSG00000260158 ENST00000569859 human ensembl 70_37 +1 known rna NULL NULL 0.825 - - - no_errors RP11-67H24.2 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41556727 41556727 + Splice_Site SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 22 41556727 41556727 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known splice_site c.3671+1 e20+1 1.000 - - - no_errors EP300 HGNC EPCAM 4072 genome.wustl.edu 37 2 47596298 47596298 + Silent SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 47596298 47596298 C G SNP EPCAM ENST00000456133 human ensembl 70_37 +1 known silent c.84 p.A28 0.000 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors EPCAM HGNC FAM122C 159091 genome.wustl.edu 37 X 133941588 133941588 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 133941588 133941588 G A SNP FAM122C ENST00000414371 human ensembl 70_37 +1 known missense c.68 p.R23Q 0.000 NULL NULL - no_errors FAM122C HGNC FANCM 57697 genome.wustl.edu 37 14 45620690 45620690 + Missense_Mutation SNP G G T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 45620690 45620690 G T SNP FANCM ENST00000267430 human ensembl 70_37 +1 known missense c.1009 p.A337S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC FAT2 2196 genome.wustl.edu 37 5 150947427 150947427 + Missense_Mutation SNP T T G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 5 150947427 150947427 T G SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.1066 p.K356Q 0.003 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FLJ33534 285150 genome.wustl.edu 37 2 11268861 11268861 + RNA SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 11268861 11268861 A G SNP FLJ33534 ENST00000396164 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC062028.1 Clone_based_vega_gene H6PD 9563 genome.wustl.edu 37 1 9324266 9324266 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 9324266 9324266 G A SNP H6PD ENST00000377403 human ensembl 70_37 +1 known missense c.1714 p.E572K 0.996 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC HIST1H4F 8361 genome.wustl.edu 37 6 26240698 26240698 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 26240698 26240698 C T SNP HIST1H4F ENST00000377745 human ensembl 70_37 +1 known silent c.45 p.G15 0.999 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC HLA-B 3106 genome.wustl.edu 37 6 31323001 31323001 + Splice_Site SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 31323001 31323001 C G SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known splice_site c.896-1 e5-1 0.931 - - - no_errors HLA-B HGNC KRT6A 3853 genome.wustl.edu 37 12 52881697 52881697 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 12 52881697 52881697 C T SNP KRT6A ENST00000330722 human ensembl 70_37 -1 known missense c.1502 p.S501N 0.007 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC LDOC1 23641 genome.wustl.edu 37 X 140270994 140270994 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 140270994 140270994 C T SNP LDOC1 ENST00000370526 human ensembl 70_37 -1 known silent c.213 p.T71 0.077 NULL NULL - no_errors LDOC1 HGNC LFNG 3955 genome.wustl.edu 37 7 2564882 2564882 + Missense_Mutation SNP G G T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 2564882 2564882 G T SNP LFNG ENST00000222725 human ensembl 70_37 +1 known missense c.511 p.A171S 1.000 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors LFNG HGNC LOC101060483 101060483 genome.wustl.edu 37 14 19856617 19856617 + RNA SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 19856617 19856617 A G SNP LOC101060483 ENST00000551334 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene LOC645513 645513 genome.wustl.edu 37 4 120382926 120382926 + RNA SNP A A C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 120382926 120382926 A C SNP LOC645513 ENST00000508519 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-33B1.1 Clone_based_vega_gene MAGEC3 139081 genome.wustl.edu 37 X 140967150 140967150 + Missense_Mutation SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 140967150 140967150 A G SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.448 p.T150A 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MED12 9968 genome.wustl.edu 37 X 70344125 70344125 + Nonsense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 70344125 70344125 C T SNP MED12 ENST00000333646 human ensembl 70_37 +1 known nonsense c.1861 p.R621* 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC MIOS 54468 genome.wustl.edu 37 7 7634623 7634623 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 7634623 7634623 G A SNP MIOS ENST00000340080 human ensembl 70_37 +1 known missense c.2056 p.D686N 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC MIS18BP1 55320 genome.wustl.edu 37 14 45693777 45693777 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 45693777 45693777 G A SNP MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known silent c.2013 p.S671 0.001 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC MTHFD2L 441024 genome.wustl.edu 37 4 75067078 75067078 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 75067078 75067078 C T SNP MTHFD2L ENST00000395759 human ensembl 70_37 +1 known missense c.703 p.R235W 0.931 pfam_THF_DH/CycHdrlase_NAD-bd_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC MYH7 4625 genome.wustl.edu 37 14 23884925 23884925 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 23884925 23884925 G A SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known silent c.5070 p.A1690 0.085 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC NBL1 4681 genome.wustl.edu 37 1 19981847 19981847 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 19981847 19981847 C T SNP NBL1 ENST00000289749 human ensembl 70_37 +1 known silent c.306 p.S102 1.000 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC NBPF9 400818 genome.wustl.edu 37 1 144814603 144814603 + RNA SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 144814603 144814603 A G SNP NBPF9 ENST00000465793 human ensembl 70_37 +1 known rna NULL NULL 0.027 - - - no_errors NBPF9 HGNC NEGR1 257194 genome.wustl.edu 37 1 72400779 72400779 + Missense_Mutation SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 72400779 72400779 A G SNP NEGR1 ENST00000357731 human ensembl 70_37 -1 known missense c.392 p.V131A 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NEGR1 HGNC NR0B1 190 genome.wustl.edu 37 X 30326793 30326793 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 30326793 30326793 G A SNP NR0B1 ENST00000378970 human ensembl 70_37 -1 known missense c.688 p.R230W 0.411 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC NR3C2 4306 genome.wustl.edu 37 4 149035254 149035254 + Splice_Site SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 149035254 149035254 C T SNP NR3C2 ENST00000355292 human ensembl 70_37 -1 known splice_site c.2811+1 e7+1 1.000 - - - no_errors NR3C2 HGNC OR11H12 440153 genome.wustl.edu 37 14 19377748 19377748 + Missense_Mutation SNP T T G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 19377748 19377748 T G SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known missense c.155 p.L52R 0.014 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC OR51A4 401666 genome.wustl.edu 37 11 4967395 4967395 + Missense_Mutation SNP C C A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 11 4967395 4967395 C A SNP OR51A4 ENST00000380373 human ensembl 70_37 -1 known missense c.936 p.K312N 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC PCDHA7 56141 genome.wustl.edu 37 5 140216124 140216124 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 5 140216124 140216124 C T SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.2156 p.T719M 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC PCDHB1 29930 genome.wustl.edu 37 5 140431083 140431083 + Missense_Mutation SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 5 140431083 140431083 C G SNP PCDHB1 ENST00000306549 human ensembl 70_37 +1 known missense c.28 p.Q10E 0.185 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC PDE1C 5137 genome.wustl.edu 37 7 31864488 31864488 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 7 31864488 31864488 G A SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known missense c.1399 p.R467C 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC PET112 5188 genome.wustl.edu 37 4 152622537 152622537 + Nonsense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 152622537 152622537 G A SNP PET112 ENST00000263985 human ensembl 70_37 -1 known nonsense c.1141 p.R381* 1.000 superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC PRSS41 360226 genome.wustl.edu 37 16 2854483 2854483 + RNA SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 16 2854483 2854483 G A SNP PRSS41 ENST00000399677 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRSS41 HGNC PTCHD3 374308 genome.wustl.edu 37 10 27702694 27702694 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 10 27702694 27702694 G A SNP PTCHD3 ENST00000438700 human ensembl 70_37 -1 known silent c.486 p.D162 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC PTEN 5728 genome.wustl.edu 37 10 89624269 89624269 + Nonsense_Mutation SNP A A T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 10 89624269 89624269 A T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.43 p.R15* 1.000 pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC RRBP1 6238 genome.wustl.edu 37 20 17640441 17640441 + Nonsense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 20 17640441 17640441 G A SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known nonsense c.712 p.Q238* 0.872 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC RUNX1 861 genome.wustl.edu 37 21 36164595 36164595 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 21 36164595 36164595 C T SNP RUNX1 ENST00000300305 human ensembl 70_37 -1 known missense c.1280 p.R427H 1.000 pfam_RunxI,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC S100A4 6275 genome.wustl.edu 37 1 153516163 153516163 + RNA DEL A A - TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 153516163 153516163 A - DEL S100A4 ENST00000468373 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors S100A4 HGNC SET 6418 genome.wustl.edu 37 9 131454136 131454136 + Splice_Site SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 131454136 131454136 G C SNP SET ENST00000372692 human ensembl 70_37 +1 known splice_site c.171-1 e3-1 1.000 - - - no_errors SET HGNC SIPA1L3 23094 genome.wustl.edu 37 19 38655260 38655260 + Missense_Mutation SNP G G T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 19 38655260 38655260 G T SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known missense c.3922 p.D1308Y 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC SLAMF9 89886 genome.wustl.edu 37 1 159922138 159922138 + Missense_Mutation SNP T T C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 159922138 159922138 T C SNP SLAMF9 ENST00000368093 human ensembl 70_37 -1 known missense c.578 p.D193G 0.055 pfscan_Ig-like pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF9 HGNC SLC16A5 9121 genome.wustl.edu 37 17 73100198 73100198 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 17 73100198 73100198 C T SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known silent c.1287 p.V429 0.000 pfam_MFS,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC SLC17A3 10786 genome.wustl.edu 37 6 25855375 25855375 + Missense_Mutation SNP A A G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 25855375 25855375 A G SNP SLC17A3 ENST00000397060 human ensembl 70_37 -1 known missense c.709 p.F237L 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC SLC45A3 85414 genome.wustl.edu 37 1 205628400 205628400 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 205628400 205628400 C T SNP SLC45A3 ENST00000367145 human ensembl 70_37 -1 known missense c.1624 p.V542I 0.999 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC SPAG16 79582 genome.wustl.edu 37 2 214794778 214794778 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 214794778 214794778 C T SNP SPAG16 ENST00000331683 human ensembl 70_37 +1 known missense c.1309 p.R437C 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC SPATA31E1 286234 genome.wustl.edu 37 9 90499541 90499541 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 90499541 90499541 C T SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known missense c.400 p.R134W 0.001 NULL NULL - no_errors SPATA31E1 HGNC SRSF9 8683 genome.wustl.edu 37 12 120899902 120899902 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 12 120899902 120899902 G A SNP SRSF9 ENST00000229390 human ensembl 70_37 -1 known missense c.586 p.R196W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF9 HGNC SSX4B 548313 genome.wustl.edu 37 X 48269517 48269517 + Splice_Site SNP C C A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 48269517 48269517 C A SNP SSX4B ENST00000376884 human ensembl 70_37 -1 known splice_site c.185-1 e3-1 0.008 - - - no_errors SSX4B HGNC STAC 6769 genome.wustl.edu 37 3 36534667 36534667 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 3 36534667 36534667 G A SNP STAC ENST00000273183 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC TAS2R64P 338412 genome.wustl.edu 37 12 11230560 11230560 + RNA SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 12 11230560 11230560 G A SNP TAS2R64P ENST00000534866 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TAS2R64P HGNC TBC1D12 23232 genome.wustl.edu 37 10 96234261 96234262 + RNA INS - - A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 10 96234261 96234262 - A INS TBC1D12 ENST00000482498 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.000 - - - no_errors TBC1D12 HGNC TBC1D2B 23102 genome.wustl.edu 37 15 78316871 78316871 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 15 78316871 78316871 C T SNP TBC1D2B ENST00000300584 human ensembl 70_37 -1 known missense c.1097 p.R366Q 0.978 NULL 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 TBL1X 6907 genome.wustl.edu 37 X 9660204 9660204 + Silent SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e X 9660204 9660204 G A SNP TBL1X ENST00000217964 human ensembl 70_37 +1 known silent c.801 p.G267 0.879 superfamily_WD40_repeat_dom,pfscan_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 TBL1X HGNC TINAGL1 64129 genome.wustl.edu 37 1 32050317 32050317 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 32050317 32050317 C T SNP TINAGL1 ENST00000271064 human ensembl 70_37 +1 known silent c.621 p.F207 0.933 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC TLN1 7094 genome.wustl.edu 37 9 35717356 35717356 + Missense_Mutation SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 9 35717356 35717356 C T SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known missense c.2245 p.G749S 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC TMEM156 80008 genome.wustl.edu 37 4 39000444 39000444 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 4 39000444 39000444 C T SNP TMEM156 ENST00000381938 human ensembl 70_37 -1 known silent c.174 p.V58 0.938 NULL NULL - no_errors TMEM156 HGNC TTN 7273 genome.wustl.edu 37 2 179590682 179590682 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 2 179590682 179590682 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.16635 p.P5545 0.558 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UIMC1 51720 genome.wustl.edu 37 5 176395779 176395779 + Missense_Mutation SNP G G C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 5 176395779 176395779 G C SNP UIMC1 ENST00000377219 human ensembl 70_37 -1 known missense c.977 p.P326R 0.998 NULL smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif - no_errors UIMC1 HGNC XYLB 9942 genome.wustl.edu 37 3 38408351 38408351 + Missense_Mutation SNP A A T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 3 38408351 38408351 A T SNP XYLB ENST00000207870 human ensembl 70_37 +1 known missense c.560 p.Y187F 0.946 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ZC3H18 124245 genome.wustl.edu 37 16 88666329 88666329 + Missense_Mutation SNP G G A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 16 88666329 88666329 G A SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known missense c.1061 p.R354Q 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68244947 68244947 + Missense_Mutation SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 14 68244947 68244947 C G SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.4693 p.E1565Q 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZNF318 24149 genome.wustl.edu 37 6 43316363 43316363 + Missense_Mutation SNP C C A TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 43316363 43316363 C A SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.2771 p.G924V 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF593 51042 genome.wustl.edu 37 1 26497013 26497013 + Missense_Mutation SNP C C G TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 1 26497013 26497013 C G SNP ZNF593 ENST00000270812 human ensembl 70_37 +1 putative missense c.305 p.A102G 0.001 NULL pfam_Znf_C2H2_jaz,pfscan_Znf_C2H2 - no_errors ZNF593 HGNC ZNF750 79755 genome.wustl.edu 37 17 80789577 80789578 + Frame_Shift_Ins INS - - C TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 17 80789577 80789578 - C INS ZNF750 ENST00000269394 human ensembl 70_37 -1 known frame_shift_ins c.754_753 p.L251fs 0.984:0.292 NULL NULL - no_errors ZNF750 HGNC ZNF76 7629 genome.wustl.edu 37 6 35260671 35260671 + Silent SNP C C T TCGA-FU-A3TQ-01A-11D-A22X-09 TCGA-FU-A3TQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f3d51719-25b7-4d5c-807b-89baeb60773b 3367b5e8-cebb-4e94-baae-17116774c04e 6 35260671 35260671 C T SNP ZNF76 ENST00000373953 human ensembl 70_37 +1 known silent c.1179 p.A393 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC