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 ABCC4 10257 genome.wustl.edu 37 13 95735503 95735503 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 13 95735503 95735503 G A SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known silent c.2577 p.A859 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ABCF2 10061 genome.wustl.edu 37 7 150915945 150915945 + Missense_Mutation SNP C C A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 7 150915945 150915945 C A SNP ABCF2 ENST00000222388 human ensembl 70_37 -1 known missense c.1032 p.R344S 0.992 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ADCY9 115 genome.wustl.edu 37 16 4164414 4164414 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 16 4164414 4164414 C T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.1030 p.D344N 1.000 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ADRB2 154 genome.wustl.edu 37 5 148206606 148206608 + In_Frame_Del DEL TCA TCA - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 5 148206606 148206608 TCA - DEL ADRB2 ENST00000305988 human ensembl 70_37 +1 known in_frame_del c.212_214 p.I72in_frame_del 1.000:1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRB2 HGNC AGBL3 340351 genome.wustl.edu 37 7 134766496 134766496 + Frame_Shift_Del DEL T T - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 7 134766496 134766496 T - DEL AGBL3 ENST00000458078 human ensembl 70_37 +1 known frame_shift_del c.1986 p.Y663fs 0.000 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC AHI1 54806 genome.wustl.edu 37 6 135787166 135787166 + Missense_Mutation SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 135787166 135787166 C G SNP AHI1 ENST00000265602 human ensembl 70_37 -1 known missense c.535 p.E179Q 0.000 NULL 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 APEX2 27301 genome.wustl.edu 37 X 55033705 55033705 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 X 55033705 55033705 G A SNP APEX2 ENST00000374987 human ensembl 70_37 +1 known missense c.1394 p.R465H 0.071 NULL pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX2 HGNC AVPR1A 552 genome.wustl.edu 37 12 63544264 63544264 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 12 63544264 63544264 C T SNP AVPR1A ENST00000299178 human ensembl 70_37 -1 known missense c.353 p.R118H 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC BCAR3 8412 genome.wustl.edu 37 1 94140433 94140433 + Missense_Mutation SNP C C A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 94140433 94140433 C A SNP BCAR3 ENST00000260502 human ensembl 70_37 -1 known missense c.54 p.Q18H 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC BRWD3 254065 genome.wustl.edu 37 X 79942412 79942412 + Missense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 X 79942412 79942412 G T SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.3955 p.R1319S 0.994 superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC C1orf43 25912 genome.wustl.edu 37 1 154179794 154179794 + RNA SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 154179794 154179794 C G SNP C1orf43 ENST00000483282 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf43 HGNC MROH8 140699 genome.wustl.edu 37 20 35740792 35740792 + Missense_Mutation SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 20 35740792 35740792 C G SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known missense c.2749 p.E917Q 0.868 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC CCDC38 120935 genome.wustl.edu 37 12 96275265 96275265 + Missense_Mutation SNP A A T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 12 96275265 96275265 A T SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.988 p.L330M 0.075 NULL NULL - no_errors CCDC38 HGNC CELF5 60680 genome.wustl.edu 37 19 3290270 3290270 + Nonsense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 19 3290270 3290270 G T SNP CELF5 ENST00000292672 human ensembl 70_37 +1 known nonsense c.1228 p.E410* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC CSHL1 1444 genome.wustl.edu 37 17 61987643 61987643 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 17 61987643 61987643 C T SNP CSHL1 ENST00000309894 human ensembl 70_37 -1 known missense c.350 p.R117Q 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC DIP2C 22982 genome.wustl.edu 37 10 486841 486841 + Nonsense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 486841 486841 G A SNP DIP2C ENST00000280886 human ensembl 70_37 -1 known nonsense c.364 p.Q122* 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC DST 667 genome.wustl.edu 37 6 56484707 56484707 + Silent SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 56484707 56484707 A G SNP DST ENST00000370765 human ensembl 70_37 -1 known silent c.4125 p.N1375 0.454 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ECI2 10455 genome.wustl.edu 37 6 4116174 4116174 + Silent SNP T T C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 4116174 4116174 T C SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known silent c.1119 p.G373 0.001 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC EIF4G3 8672 genome.wustl.edu 37 1 21139650 21139650 + Splice_Site SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 21139650 21139650 C G SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known splice_site c.4447+1 e29+1 1.000 - - - no_errors EIF4G3 HGNC ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65055 65055 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 GL000212.1 65055 65055 G A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.804 p.P268 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000258686 0 genome.wustl.edu 37 1 110592049 110592049 + RNA DEL T T - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 110592049 110592049 T - DEL ENSG00000258686 ENST00000473429 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-773N10.5 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102304728 102304728 + RNA SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 15 102304728 102304728 G C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene FAM78A 286336 genome.wustl.edu 37 9 134134559 134134559 + RNA SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 134134559 134134559 C T SNP FAM78A ENST00000247295 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM78A HGNC FLG 2312 genome.wustl.edu 37 1 152282256 152282256 + Silent SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 152282256 152282256 A G SNP FLG ENST00000368799 human ensembl 70_37 -1 known silent c.5106 p.D1702 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FRMPD4 9758 genome.wustl.edu 37 X 12734823 12734823 + Missense_Mutation SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 X 12734823 12734823 G C SNP FRMPD4 ENST00000380682 human ensembl 70_37 +1 known missense c.2245 p.E749Q 0.999 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC FUT8 2530 genome.wustl.edu 37 14 66190982 66190983 + Frame_Shift_Ins INS - - A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 14 66190982 66190983 - A INS FUT8 ENST00000360689 human ensembl 70_37 +1 known frame_shift_ins c.1200_1201 p.R402fs 1.000:1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC HERC1 8925 genome.wustl.edu 37 15 64015507 64015507 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 15 64015507 64015507 C T SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.3616 p.E1206K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC IFNA4 3441 genome.wustl.edu 37 9 21187205 21187205 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 21187205 21187205 G A SNP IFNA4 ENST00000421715 human ensembl 70_37 -1 known missense c.326 p.S109F 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA4 HGNC ISM2 145501 genome.wustl.edu 37 14 77951065 77951065 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 14 77951065 77951065 C T SNP ISM2 ENST00000342219 human ensembl 70_37 -1 known silent c.339 p.P113 0.965 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC KHDRBS3 10656 genome.wustl.edu 37 8 136561003 136561003 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 8 136561003 136561003 G A SNP KHDRBS3 ENST00000355849 human ensembl 70_37 +1 known missense c.331 p.E111K 1.000 smart_KH_dom smart_KH_dom - no_errors KHDRBS3 HGNC KNDC1 85442 genome.wustl.edu 37 10 135015315 135015315 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 135015315 135015315 C T SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known silent c.3306 p.A1102 0.904 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC LIMK1 3984 genome.wustl.edu 37 7 73521443 73521443 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 7 73521443 73521443 C T SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known missense c.985 p.R329W 0.998 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC LINC00476 100128782 genome.wustl.edu 37 9 98638198 98638198 + RNA SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 98638198 98638198 G C SNP LINC00476 ENST00000321517 human ensembl 70_37 -1 known rna NULL NULL 0.049 - - - no_errors LINC00476 HGNC LOC100129858 100129858 genome.wustl.edu 37 4 141214528 141214528 + RNA SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 4 141214528 141214528 C T SNP LOC100129858 ENST00000512692 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-425I13.3 Clone_based_vega_gene LOC100996300 100996300 genome.wustl.edu 37 6 17882266 17882266 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 17882266 17882266 G A SNP LOC100996300 ENST00000398387 human ensembl 70_37 -1 known missense c.113 p.A38V 0.050 NULL NULL - no_errors AL023807.2 Clone_based_ensembl_gene MAML2 84441 genome.wustl.edu 37 11 95825372 95825374 + In_Frame_Del DEL TGT TGT - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 11 95825372 95825374 TGT - DEL MAML2 ENST00000440572 human ensembl 70_37 -1 known in_frame_del c.1823_1821 p.Q611in_frame_del 0.003:0.003:0.003 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC MAP1A 4130 genome.wustl.edu 37 15 43816925 43816925 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 15 43816925 43816925 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.3254 p.G1085D 0.832 NULL NULL - no_errors MAP1A HGNC MAP3K4 4216 genome.wustl.edu 37 6 161491789 161491789 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 161491789 161491789 C T SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known silent c.1857 p.L619 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC MAP3K5 4217 genome.wustl.edu 37 6 136960681 136960681 + Frame_Shift_Del DEL T T - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 136960681 136960681 T - DEL MAP3K5 ENST00000359015 human ensembl 70_37 -1 known frame_shift_del c.1934 p.K645fs 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC MDK 4192 genome.wustl.edu 37 11 46404341 46404343 + In_Frame_Del DEL CCC CCC - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 CCC CCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 11 46404341 46404343 CCC - DEL MDK ENST00000489525 human ensembl 70_37 +1 known in_frame_del c.449_451 p.P154in_frame_del 0.000:0.000:0.001 NULL pfam_Midkine_heparin-bd_GF_N,pfam_Midkine_heparin-bd_GF_C,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors MDK HGNC MIR138-2 406930 genome.wustl.edu 37 16 56892472 56892472 + RNA SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 16 56892472 56892472 C T SNP MIR138-2 ENST00000384916 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR138-2 HGNC MSTO1 55154 genome.wustl.edu 37 1 155716706 155716706 + Missense_Mutation SNP T T C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 155716706 155716706 T C SNP MSTO1 ENST00000538143 human ensembl 70_37 +1 known missense c.410 p.L137P 0.000 NULL pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12684 12684 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 MT 12684 12684 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.348 p.Q116 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12705 12705 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 MT 12705 12705 C T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.369 p.I123 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MYH13 8735 genome.wustl.edu 37 17 10212865 10212865 + Missense_Mutation SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 17 10212865 10212865 G C SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.4939 p.L1647V 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYOF 26509 genome.wustl.edu 37 10 95237970 95237970 + RNA SNP T T G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 95237970 95237970 T G SNP MYOF ENST00000488645 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYOF HGNC NCK1 4690 genome.wustl.edu 37 3 136664512 136664512 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 3 136664512 136664512 A G SNP NCK1 ENST00000288986 human ensembl 70_37 +1 known missense c.314 p.Y105C 1.000 superfamily_SH3_domain,pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC OR6Y1 391112 genome.wustl.edu 37 1 158517747 158517747 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 158517747 158517747 A G SNP OR6Y1 ENST00000302617 human ensembl 70_37 -1 known missense c.149 p.I50T 0.301 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC PCDHB13 56123 genome.wustl.edu 37 5 140595330 140595330 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 5 140595330 140595330 G A SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known silent c.1635 p.A545 0.181 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC PLS1 5357 genome.wustl.edu 37 3 142396905 142396905 + Missense_Mutation SNP A A C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 3 142396905 142396905 A C SNP PLS1 ENST00000337777 human ensembl 70_37 +1 known missense c.529 p.I177L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC PMPCA 23203 genome.wustl.edu 37 9 139312506 139312506 + Frame_Shift_Del DEL C C - TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 139312506 139312506 C - DEL PMPCA ENST00000371717 human ensembl 70_37 +1 known frame_shift_del c.935 p.I314fs 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC PMPCA 23203 genome.wustl.edu 37 9 139312511 139312511 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 9 139312511 139312511 A G SNP PMPCA ENST00000371717 human ensembl 70_37 +1 known missense c.940 p.I314V 0.993 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC POTED 317754 genome.wustl.edu 37 21 14982955 14982955 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 21 14982955 14982955 C T SNP POTED ENST00000299443 human ensembl 70_37 +1 known missense c.406 p.R136C 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTED HGNC PTF1A 256297 genome.wustl.edu 37 10 23481515 23481515 + Missense_Mutation SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 23481515 23481515 C T SNP PTF1A ENST00000376504 human ensembl 70_37 +1 known missense c.56 p.S19L 0.795 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors PTF1A HGNC RNF145 153830 genome.wustl.edu 37 5 158585861 158585861 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 5 158585861 158585861 G A SNP RNF145 ENST00000274542 human ensembl 70_37 -1 known silent c.1893 p.V631 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC RPL10A 4736 genome.wustl.edu 37 6 35436196 35436196 + RNA SNP C C G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 6 35436196 35436196 C G SNP RPL10A ENST00000467020 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL10A HGNC SIRT1 23411 genome.wustl.edu 37 10 69672357 69672357 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 69672357 69672357 G A SNP SIRT1 ENST00000212015 human ensembl 70_37 +1 known missense c.1484 p.G495D 1.000 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC SLC16A4 9122 genome.wustl.edu 37 1 110919773 110919773 + Silent SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 110919773 110919773 C T SNP SLC16A4 ENST00000369779 human ensembl 70_37 -1 known silent c.1041 p.E347 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC SLC25A39 51629 genome.wustl.edu 37 17 42400685 42400685 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 17 42400685 42400685 G A SNP SLC25A39 ENST00000377095 human ensembl 70_37 -1 known missense c.112 p.R38C 0.995 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 - no_errors SLC25A39 HGNC SP6 80320 genome.wustl.edu 37 17 45924676 45924676 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 17 45924676 45924676 G A SNP SP6 ENST00000342234 human ensembl 70_37 -1 known missense c.1120 p.P374S 0.049 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC SPAG17 200162 genome.wustl.edu 37 1 118609416 118609416 + Missense_Mutation SNP A A G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 118609416 118609416 A G SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.2492 p.L831S 0.029 NULL NULL - no_errors SPAG17 HGNC STARD13 90627 genome.wustl.edu 37 13 33701650 33701650 + Missense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 13 33701650 33701650 G T SNP STARD13 ENST00000336934 human ensembl 70_37 -1 known missense c.1782 p.H594Q 1.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD13 HGNC STC2 8614 genome.wustl.edu 37 5 172755130 172755130 + Missense_Mutation SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 5 172755130 172755130 G A SNP STC2 ENST00000265087 human ensembl 70_37 -1 known missense c.67 p.R23W 0.191 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC2 HGNC SUGT1P3 283507 genome.wustl.edu 37 13 41495643 41495643 + Silent SNP A A C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 13 41495643 41495643 A C SNP SUGT1P3 ENST00000494063 human ensembl 70_37 -1 known silent c.63 p.A21 0.931 NULL pfscan_TPR-contain_dom - no_errors SUGT1P3 HGNC TPR 7175 genome.wustl.edu 37 1 186303601 186303601 + Missense_Mutation SNP T T G TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 1 186303601 186303601 T G SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5038 p.K1680Q 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC WDR11 55717 genome.wustl.edu 37 10 122668664 122668664 + RNA SNP C C T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 10 122668664 122668664 C T SNP WDR11 ENST00000497136 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR11 HGNC YLPM1 56252 genome.wustl.edu 37 14 75266333 75266333 + Missense_Mutation SNP G G T TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 14 75266333 75266333 G T SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.4333 p.V1445L 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ZNF777 27153 genome.wustl.edu 37 7 149153010 149153010 + Missense_Mutation SNP G G C TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ae152f3-8825-4ebc-ba32-d491560a8bf4 c3d75701-b40d-4e8f-aa95-d71183218400 7 149153010 149153010 G C SNP ZNF777 ENST00000247930 human ensembl 70_37 -1 known missense c.104 p.S35C 0.082 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC