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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ALDH1L2 0 genome.wustl.edu 37 12 105445872 105445872 + Frame_Shift_Del DEL A A - TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 12 105445872 105445872 A - DEL ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known frame_shift_del c.1531 p.Y511fs 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 50 0 0.00 60 37 37.37 - - - C6orf228 0 genome.wustl.edu 37 6 11094562 11094562 + Frame_Shift_Del DEL G G - TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 6 11094562 11094562 G - DEL C6orf228 ENST00000376935 human ensembl 69_37n +1 known frame_shift_del c.16 p.L7fs 0.996 NULL NULL - no_errors C6orf228 HGNC ENSG00000224531 34 0 0.00 16 4 20.00 - - - CDH1 0 genome.wustl.edu 37 16 68849628 68849628 + Nonsense_Mutation SNP C C T TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 16 68849628 68849628 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.1531 p.Q511* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 190 0 0.00 71 37 34.26 - - - CRYGA 0 genome.wustl.edu 37 2 209025576 209025577 + Frame_Shift_Ins INS - - C TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 2 209025576 209025577 - C INS CRYGA ENST00000304502 human ensembl 69_37n -1 known frame_shift_ins c.477_476 p.A160fs 0.408:0.651 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 48 0 0.00 45 6 11.76 - - - CSAD 0 genome.wustl.edu 37 12 53552385 53552385 + Frame_Shift_Del DEL G G - TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 12 53552385 53552385 G - DEL CSAD ENST00000267085 human ensembl 69_37n -1 known frame_shift_del c.1473 p.F492fs 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CSAD HGNC ENSG00000139631 69 0 0.00 32 43 55.84 - - - CYHR1 0 genome.wustl.edu 37 8 145689543 145689544 + Frame_Shift_Ins INS - - A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 8 145689543 145689544 - A INS CYHR1 ENST00000306145 human ensembl 69_37n -1 known frame_shift_ins c.546_545 p.A183fs 0.996:0.993 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 10 0 0.00 10 5 33.33 - - - EHMT1 0 genome.wustl.edu 37 9 140710464 140710464 + Silent SNP G G A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 9 140710464 140710464 G A SNP EHMT1 ENST00000460843 human ensembl 69_37n +1 known silent c.3324 p.A1108 0.912 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 59 0 0.00 21 14 40.00 - - - EPB41L4A 0 genome.wustl.edu 37 5 111506043 111506043 + Missense_Mutation SNP C C T TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 5 111506043 111506043 C T SNP EPB41L4A ENST00000261486 human ensembl 69_37n -1 known missense c.1694 p.G565E 0.993 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4A HGNC ENSG00000129595 205 0 0.00 267 32 10.70 - - - ESPL1 0 genome.wustl.edu 37 12 53682322 53682323 + Frame_Shift_Del DEL GT GT - TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 12 53682322 53682323 GT - DEL ESPL1 ENST00000257934 human ensembl 69_37n +1 known frame_shift_del c.4547_4548 p.G1517fs 0.126:0.120 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 33 0 0.00 6 14 70.00 - - - FTSJ3 0 genome.wustl.edu 37 17 61898202 61898202 + Missense_Mutation SNP T T C TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 17 61898202 61898202 T C SNP FTSJ3 ENST00000427159 human ensembl 69_37n -1 known missense c.2069 p.N690S 1.000 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 75 0 0.00 56 21 26.92 - - - FXYD5 0 genome.wustl.edu 37 19 35649292 35649292 + Nonsense_Mutation SNP G G A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 19 35649292 35649292 G A SNP FXYD5 ENST00000342879 human ensembl 69_37n +1 known nonsense c.188 p.W63* 0.000 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD5 HGNC ENSG00000089327 173 0 0.00 144 39 21.20 - - - GPR56 0 genome.wustl.edu 37 16 57691314 57691314 + Missense_Mutation SNP C C A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 16 57691314 57691314 C A SNP GPR56 ENST00000379696 human ensembl 69_37n +1 known missense c.1197 p.H399Q 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like - no_errors GPR56 HGNC ENSG00000205336 60 0 0.00 11 4 26.67 - - - GRM1 0 genome.wustl.edu 37 6 146720226 146720226 + Missense_Mutation SNP G G A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 6 146720226 146720226 G A SNP GRM1 ENST00000282753 human ensembl 69_37n +1 known missense c.2051 p.R684H 1.000 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C - no_errors GRM1 HGNC ENSG00000152822 173 0 0.00 183 68 27.09 - - - HK1 0 genome.wustl.edu 37 10 71154851 71154851 + Nonsense_Mutation SNP C C T TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 10 71154851 71154851 C T SNP HK1 ENST00000448642 human ensembl 69_37n +1 known nonsense c.2470 p.Q824* 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 76 0 0.00 87 23 20.91 - - - HSPA12B 0 genome.wustl.edu 37 20 3721533 3721534 + Frame_Shift_Ins INS - - C TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 20 3721533 3721534 - C INS HSPA12B ENST00000254963 human ensembl 69_37n +1 known frame_shift_ins c.115_116 p.L41fs 1.000:1.000 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 76 0 0.00 23 3 11.54 - - - KIAA2013 0 genome.wustl.edu 37 1 11985345 11985345 + Frame_Shift_Del DEL T T - TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 1 11985345 11985345 T - DEL KIAA2013 ENST00000376576 human ensembl 69_37n -1 known frame_shift_del c.950 p.K317fs 1.000 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 54 0 0.00 30 4 11.76 - - - KRTAP3-2 0 genome.wustl.edu 37 17 39155871 39155871 + Missense_Mutation SNP T T A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 17 39155871 39155871 T A SNP KRTAP3-2 ENST00000391587 human ensembl 69_37n -1 known missense c.235 p.T79S 0.942 pfam_Keratin_matx pfam_Keratin_matx - no_errors KRTAP3-2 HGNC ENSG00000212900 201 0 0.00 184 92 33.33 - - - NAV2 0 genome.wustl.edu 37 11 20136311 20136312 + Frame_Shift_Ins INS - - C TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 11 20136311 20136312 - C INS NAV2 ENST00000396087 human ensembl 69_37n +1 known frame_shift_ins c.7311_7312 p.S2439fs 0.998:1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 108 1 0.92 62 7 10.14 - - - ONECUT2 0 genome.wustl.edu 37 18 55103477 55103479 + In_Frame_Del DEL CAC CAC - TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 18 55103477 55103479 CAC - DEL ONECUT2 ENST00000262095 human ensembl 69_37n +1 known in_frame_del c.529_531 p.H180in_frame_del 1.000:1.000:1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 47 0 0.00 20 4 16.67 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 48 0 0.00 58 21 26.58 - - - PIKFYVE 0 genome.wustl.edu 37 2 209212650 209212650 + Silent SNP C C T TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 2 209212650 209212650 C T SNP PIKFYVE ENST00000264380 human ensembl 69_37n +1 known silent c.5277 p.S1759 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 57 0 0.00 56 9 13.85 - - - PLEKHA4 0 genome.wustl.edu 37 19 49363612 49363612 + Silent SNP G G A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 19 49363612 49363612 G A SNP PLEKHA4 ENST00000263265 human ensembl 69_37n -1 known silent c.471 p.D157 0.157 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 105 0 0.00 36 12 25.00 - - - PRDM16 0 genome.wustl.edu 37 1 3301795 3301795 + Missense_Mutation SNP G G A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 1 3301795 3301795 G A SNP PRDM16 ENST00000270722 human ensembl 69_37n +1 known missense c.518 p.R173H 0.991 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 24 0 0.00 8 5 38.46 - - - PRND 0 genome.wustl.edu 37 20 4705447 4705447 + Missense_Mutation SNP C C A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 20 4705447 4705447 C A SNP PRND ENST00000305817 human ensembl 69_37n +1 known missense c.250 p.Q84K 1.000 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 56 0 0.00 37 13 26.00 - - - PWP2 0 genome.wustl.edu 37 21 45528869 45528869 + Missense_Mutation SNP C C T TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 21 45528869 45528869 C T SNP PWP2 ENST00000291576 human ensembl 69_37n +1 known missense c.23 p.S8L 0.995 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 85 0 0.00 106 71 40.11 - - - RNF19A 0 genome.wustl.edu 37 8 101300149 101300149 + Missense_Mutation SNP T T G TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 8 101300149 101300149 T G SNP RNF19A ENST00000341084 human ensembl 69_37n -1 known missense c.254 p.N85T 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 47 0 0.00 84 21 20.00 - - - SHE 0 genome.wustl.edu 37 1 154461722 154461722 + Missense_Mutation SNP G G A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 1 154461722 154461722 G A SNP SHE ENST00000304760 human ensembl 69_37n -1 known missense c.829 p.R277W 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 36 0 0.00 25 6 19.35 - - - SNX3 0 genome.wustl.edu 37 6 108581992 108581992 + Missense_Mutation SNP C C A TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 6 108581992 108581992 C A SNP SNX3 ENST00000230085 human ensembl 69_37n -1 known missense c.134 p.R45L 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX3 HGNC ENSG00000112335 61 0 0.00 26 6 18.75 - - - UBR4 0 genome.wustl.edu 37 1 19439358 19439359 + In_Frame_Ins INS - - CAA TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 1 19439358 19439359 - CAA INS UBR4 ENST00000375267 human ensembl 69_37n -1 known in_frame_ins c.11461_11460 p.3820in_frame_insL 1.000:1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 133 0 0.00 112 22 16.42 - - - WHSC1 0 genome.wustl.edu 37 4 1954980 1954981 + Frame_Shift_Ins INS - - G TCGA-A2-A0EX-01A-21W-A050-09 TCGA-A2-A0EX-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9308f50c-1320-4c45-acc7-38f43b6f9a36 add72fe8-59ed-4a39-a37c-4f463a978acf 4 1954980 1954981 - G INS WHSC1 ENST00000382888 human ensembl 69_37n +1 known frame_shift_ins c.111_112 p.S38fs 0.000:0.001 NULL pfam_SET_dom,pfam_PWWP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_PWWP,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors WHSC1 HGNC ENSG00000109685 22 0 0.00 12 5 29.41 - - -