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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ADAMTS12 0 genome.wustl.edu 37 5 33577086 33577087 + Frame_Shift_Ins INS - - T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 5 33577086 33577087 - T INS ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known frame_shift_ins c.3045_3044 p.N1015fs 0.008:0.083 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 69 0 0.00 55 36 39.56 AK9 0 genome.wustl.edu 37 6 109819047 109819047 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 6 109819047 109819047 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.5168 p.A1723V 0.981 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 46 0 0.00 58 21 26.58 AKNA 0 genome.wustl.edu 37 9 117098525 117098526 + RNA DEL CA CA - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 9 117098525 117098526 CA - DEL AKNA ENST00000492875 human ensembl 74_37 -1 known rna NULL NULL 0.997:0.997 - - - no_errors AKNA HGNC ENSG00000106948 tier1 74 0 0.00 64 12 15.79 ALOX5 0 genome.wustl.edu 37 10 45941026 45941026 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 10 45941026 45941026 G A SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.1916 p.R639H 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 51 0 0.00 46 28 37.84 AR 0 genome.wustl.edu 37 X 66905892 66905892 + Silent SNP T T C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 X 66905892 66905892 T C SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.1809 p.T603 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 96 0 0.00 110 20 15.38 ARHGAP15 0 genome.wustl.edu 37 2 143913112 143913112 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 143913112 143913112 G A SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.53 p.R18H 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 tier1 - - 13 0 0.00 19 7 26.92 ARMCX1 0 genome.wustl.edu 37 X 100807920 100807920 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 X 100807920 100807920 C T SNP ARMCX1 ENST00000372829 human ensembl 74_37 +1 known missense c.7 p.R3C 0.998 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 tier1 - - 77 0 0.00 80 30 27.27 ARRB1 0 genome.wustl.edu 37 11 74992149 74992149 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 11 74992149 74992149 G A SNP ARRB1 ENST00000393505 human ensembl 74_37 -1 known missense c.452 p.A151V 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 tier1 rs74550237 - 16 0 0.00 12 10 45.45 ATF7IP2 0 genome.wustl.edu 37 16 10565979 10565981 + In_Frame_Del DEL TGT TGT - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 16 10565979 10565981 TGT - DEL ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known in_frame_del c.1365_1367 p.V456in_frame_del 0.998:0.999:0.999 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 tier1 13 0 0.00 12 8 40.00 BOD1L1 0 genome.wustl.edu 37 4 13604149 13604149 + Missense_Mutation SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 4 13604149 13604149 G T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.4375 p.H1459N 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 68 0 0.00 73 4 5.19 BRAP 0 genome.wustl.edu 37 12 112119530 112119530 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 12 112119530 112119530 C T SNP BRAP ENST00000419234 human ensembl 74_37 -1 known silent c.354 p.P118 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 tier1 - - 76 0 0.00 78 7 8.24 C3orf22 0 genome.wustl.edu 37 3 126268845 126268845 + Missense_Mutation SNP A A G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 3 126268845 126268845 A G SNP C3orf22 ENST00000318225 human ensembl 74_37 -1 known missense c.292 p.C98R 0.003 NULL NULL - no_errors C3orf22 HGNC ENSG00000180697 tier1 - - 79 0 0.00 92 32 25.81 CACNB3 0 genome.wustl.edu 37 12 49221667 49221667 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 12 49221667 49221667 C T SNP CACNB3 ENST00000301050 human ensembl 74_37 +1 known silent c.1440 p.P480 0.998 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 tier1 - - 31 0 0.00 22 15 40.54 CCDC14 0 genome.wustl.edu 37 3 123634512 123634512 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 3 123634512 123634512 G A SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known missense c.1976 p.A659V 0.000 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 tier1 - - 44 0 0.00 39 24 38.10 CCDC40 0 genome.wustl.edu 37 17 78032414 78032414 + Silent SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 78032414 78032414 G T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known silent c.1281 p.T427 0.002 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 - - 46 0 0.00 38 18 32.14 CD1E 0 genome.wustl.edu 37 1 158324285 158324285 + Silent SNP G G C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 158324285 158324285 G C SNP CD1E ENST00000368167 human ensembl 74_37 +1 known silent c.177 p.L59 0.914 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 70 0 0.00 44 22 33.33 CDKN2A 0 genome.wustl.edu 37 9 21970899 21970899 + Splice_Site SNP A A G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 9 21970899 21970899 A G SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known splice_site c.522+2 e2+2 1.000 - - - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 39 0 0.00 26 7 21.21 CILP2 0 genome.wustl.edu 37 19 19654085 19654085 + Nonsense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 19654085 19654085 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known nonsense c.1006 p.R336* 0.464 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 tier1 - - 69 0 0.00 73 22 22.92 CNTLN 0 genome.wustl.edu 37 9 17135270 17135271 + Frame_Shift_Ins INS - - G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 9 17135270 17135271 - G INS CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_ins c.207_208 p.A71fs 0.002:0.002 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 20 0 0.00 15 10 40.00 CNTNAP5 0 genome.wustl.edu 37 2 124783303 124783303 + Missense_Mutation SNP A A T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 124783303 124783303 A T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.76 p.T26S 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 64 0 0.00 45 19 29.23 CSMD1 0 genome.wustl.edu 37 8 2910146 2910146 + Missense_Mutation SNP A A G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 8 2910146 2910146 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.7501 p.S2501P 0.999 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 49 0 0.00 58 7 10.77 CYP1A1 0 genome.wustl.edu 37 15 75015146 75015146 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 15 75015146 75015146 C T SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known missense c.293 p.R98Q 0.932 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 tier1 - - 60 0 0.00 86 17 16.50 DENND2C 0 genome.wustl.edu 37 1 115167897 115167898 + Frame_Shift_Ins INS - - T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 115167897 115167898 - T INS DENND2C ENST00000393274 human ensembl 74_37 -1 known frame_shift_ins c.709_708 p.Y236fs 0.959:0.957 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 tier1 61 0 0.00 35 22 38.60 DHTKD1 0 genome.wustl.edu 37 10 12155007 12155007 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 10 12155007 12155007 C T SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.2263 p.R755W 0.993 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 tier1 - - 75 0 0.00 81 30 27.03 DRC1 0 genome.wustl.edu 37 2 26654871 26654871 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 26654871 26654871 G A SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known silent c.885 p.V295 0.999 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 tier1 - - 30 0 0.00 24 9 27.27 DRD5 0 genome.wustl.edu 37 4 9784785 9784785 + Missense_Mutation SNP T T G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 4 9784785 9784785 T G SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.1132 p.F378V 0.043 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 61 0 0.00 96 6 5.83 E2F4 0 genome.wustl.edu 37 16 67229793 67229794 + In_Frame_Ins INS - - CAG TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 16 67229793 67229794 - CAG INS E2F4 ENST00000379378 human ensembl 74_37 +1 known in_frame_ins c.917_918 p.310in_frame_insS 1.000:0.995 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 tier1 63 0 0.00 64 8 11.11 ENSG00000215398 0 genome.wustl.edu 37 14 19117123 19117123 + RNA SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 14 19117123 19117123 G A SNP ENSG00000215398 ENST00000553170 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-754I20.1 Clone_based_vega_gene ENSG00000215398 tier1 - - 142 0 0.00 147 35 19.23 ENSG00000221074 0 genome.wustl.edu 37 2 140584271 140584271 + RNA SNP G G C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 140584271 140584271 G C SNP ENSG00000221074 ENST00000408147 human ensembl 74_37 +1 novel rna NULL NULL 0.040 - - - no_errors AC078851.2 Clone_based_ensembl_gene ENSG00000221074 tier1 - - 45 0 0.00 35 13 27.08 ENSG00000223579 0 genome.wustl.edu 37 22 20639449 20639450 + RNA INS - - TA TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 22 20639449 20639450 0 TA INS ENSG00000223579 ENST00000577456 human ensembl 74_37 -1 known rna NULL NULL 0.984:0.986 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 15 0 0.00 24 8 25.00 ENSG00000235994 0 genome.wustl.edu 37 6 168376971 168376972 + RNA INS - - A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 6 168376971 168376972 0 A INS ENSG00000235994 ENST00000538528 human ensembl 74_37 -1 known rna NULL NULL 0.096:0.110 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 67 0 0.00 112 12 9.68 ENSG00000268416 0 genome.wustl.edu 37 19 20932956 20932956 + RNA SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 20932956 20932956 G T SNP ENSG00000268416 ENST00000593903 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2626G11.2 Clone_based_vega_gene ENSG00000268416 tier1 - - 15 0 0.00 7 7 50.00 ENSG00000269243 0 genome.wustl.edu 37 19 16244263 16244264 + RNA INS - - TTT TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 16244263 16244264 - TTT INS ENSG00000269243 ENST00000599676 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2231E14.8 Clone_based_vega_gene ENSG00000269243 tier1 14 0 0.00 22 3 12.00 FAM86DP 0 genome.wustl.edu 37 3 75471400 75471400 + RNA SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 3 75471400 75471400 C T SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC ENSG00000244026 82 0 0.00 70 4 5.41 GABRA3 0 genome.wustl.edu 37 X 151424445 151424445 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 X 151424445 151424445 C T SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.356 p.R119Q 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 tier1 - - 46 0 0.00 38 15 28.30 GARNL3 0 genome.wustl.edu 37 9 130005496 130005496 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 9 130005496 130005496 G A SNP GARNL3 ENST00000429629 human ensembl 74_37 +1 known silent c.111 p.T37 0.064 NULL NULL - no_errors GARNL3 HGNC ENSG00000136895 tier1 - - 59 0 0.00 57 22 27.85 GNA12 0 genome.wustl.edu 37 7 2802235 2802235 + Silent SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 7 2802235 2802235 G T SNP GNA12 ENST00000396960 human ensembl 74_37 -1 known silent c.72 p.V24 0.001 smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su - no_errors GNA12 HGNC ENSG00000146535 40 0 0.00 51 3 5.56 GOLGA5 0 genome.wustl.edu 37 14 93275649 93275649 + Silent SNP A A G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 14 93275649 93275649 A G SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known silent c.777 p.L259 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 tier1 - - 23 0 0.00 14 11 44.00 GREB1 0 genome.wustl.edu 37 2 11774344 11774344 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 11774344 11774344 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.5079 p.L1693 0.131 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 47 0 0.00 35 9 20.45 GRIK1 0 genome.wustl.edu 37 21 31023452 31023452 + Missense_Mutation SNP C C A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 21 31023452 31023452 C A SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.940 p.D314Y 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 tier1 - - 41 0 0.00 21 11 34.38 HDAC6 0 genome.wustl.edu 37 X 48664042 48664042 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 X 48664042 48664042 G A SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.443 p.R148Q 0.970 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 tier1 - - 61 0 0.00 66 38 36.54 HES1 0 genome.wustl.edu 37 3 193854764 193854764 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 3 193854764 193854764 C T SNP HES1 ENST00000232424 human ensembl 74_37 +1 known silent c.219 p.S73 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Orange,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HES1 HGNC ENSG00000114315 tier1 - - 50 0 0.00 47 20 29.85 HIF3A 0 genome.wustl.edu 37 19 46825047 46825047 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 46825047 46825047 C T SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known missense c.1159 p.R387W 0.999 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 tier1 rs145421578 - 64 0 0.00 64 36 36.00 HIST2H2BB 0 genome.wustl.edu 37 1 149398941 149398941 + RNA SNP C C A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 149398941 149398941 C A SNP HIST2H2BB ENST00000609585 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HIST2H2BB HGNC ENSG00000240929 tier1 - - 168 0 0.00 187 63 25.20 HMCN1 0 genome.wustl.edu 37 1 185962324 185962324 + Missense_Mutation SNP C C A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 185962324 185962324 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.3388 p.L1130I 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 36 0 0.00 41 10 19.61 IGSF9B 0 genome.wustl.edu 37 11 133791054 133791054 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 11 133791054 133791054 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.2566 p.G856S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 tier1 - - 51 0 0.00 45 25 35.71 IMPG2 0 genome.wustl.edu 37 3 100963578 100963578 + Missense_Mutation SNP A A G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 3 100963578 100963578 A G SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1597 p.S533P 1.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 - - 38 0 0.00 16 12 42.86 KIF26B 0 genome.wustl.edu 37 1 245849060 245849060 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 245849060 245849060 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.2775 p.T925 0.451 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 22 0 0.00 34 8 19.05 KREMEN1 0 genome.wustl.edu 37 22 29490307 29490307 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 22 29490307 29490307 C T SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known silent c.159 p.G53 0.806 pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 tier1 - - 45 0 0.00 42 19 31.15 KRTAP4-7 0 genome.wustl.edu 37 17 39240566 39240566 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 39240566 39240566 G A SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known silent c.108 p.R36 0.229 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 tier1 - - 202 0 0.00 755 66 8.04 KRTAP4-7 0 genome.wustl.edu 37 17 39240594 39240594 + Missense_Mutation SNP G G C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 39240594 39240594 G C SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known missense c.136 p.V46L 0.050 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 tier1 - - 220 0 0.00 848 73 7.92 KRTAP5-5 0 genome.wustl.edu 37 11 1651158 1651169 + In_Frame_Del DEL GGCTGTGGCTCT GGCTGTGGCTCT - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 GGCTGTGGCTCT GGCTGTGGCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 11 1651158 1651169 GGCTGTGGCTCT 0 DEL KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known in_frame_del c.88_99 p.SGCG33in_frame_del 0.374:0.384:0.317:0.302:0.301:0.281:0.273:0.283:0.273:0.229:0.033:0.002 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 133 0 0.00 200 13 6.10 KRTAP9-2 0 genome.wustl.edu 37 17 39382934 39382934 + Nonsense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 39382934 39382934 C T SNP KRTAP9-2 ENST00000377721 human ensembl 74_37 +1 known nonsense c.28 p.Q10* 0.983 NULL NULL - no_errors KRTAP9-2 HGNC ENSG00000239886 tier1 - - 271 0 0.00 946 66 6.52 KRTAP9-9 0 genome.wustl.edu 37 17 39411665 39411665 + Nonsense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 39411665 39411665 C T SNP KRTAP9-9 ENST00000394008 human ensembl 74_37 +1 known nonsense c.28 p.Q10* 0.858 NULL NULL - no_errors KRTAP9-9 HGNC ENSG00000198083 tier1 - - 91 0 0.00 235 46 16.37 KRTAP9-9 0 genome.wustl.edu 37 17 39411794 39411794 + Missense_Mutation SNP C C G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 39411794 39411794 C G SNP KRTAP9-9 ENST00000394008 human ensembl 74_37 +1 known missense c.157 p.Q53E 0.236 NULL NULL - no_errors KRTAP9-9 HGNC ENSG00000198083 tier1 - - 180 0 0.00 565 135 19.29 KRTAP9-9 0 genome.wustl.edu 37 17 39411957 39411957 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 39411957 39411957 C T SNP KRTAP9-9 ENST00000394008 human ensembl 74_37 +1 known missense c.320 p.A107V 0.000 NULL NULL - no_errors KRTAP9-9 HGNC ENSG00000198083 tier1 - - 154 0 0.00 448 100 18.25 LINC00266-1 0 genome.wustl.edu 37 20 62934912 62934913 + RNA INS - - A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 20 62934912 62934913 0 A INS LINC00266-1 ENST00000279067 human ensembl 74_37 +1 known rna NULL NULL 0.011:0.011 - - - no_errors LINC00266-1 HGNC ENSG00000149656 13 0 0.00 23 7 23.33 LOC100133091 0 genome.wustl.edu 37 7 76256129 76256132 + RNA DEL CGGG CGGG - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 CGGG CGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 7 76256129 76256132 CGGG - DEL LOC100133091 ENST00000418663 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.017:0.020:0.030 - - - no_errors AC004980.7 Clone_based_vega_gene ENSG00000205485 tier1 11 0 0.00 18 3 14.29 LOC100507377 0 genome.wustl.edu 37 12 74686321 74686321 + RNA SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 12 74686321 74686321 G A SNP LOC100507377 ENST00000515416 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors RP11-81H3.2 Clone_based_vega_gene ENSG00000251138 tier1 - - 19 0 0.00 12 6 33.33 LOC101929290 0 genome.wustl.edu 37 8 11177526 11177526 + RNA DEL T T - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 8 11177526 11177526 T - DEL LOC101929290 ENST00000498997 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 tier1 17 0 0.00 22 3 12.00 LPA 0 genome.wustl.edu 37 6 161006106 161006106 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 6 161006106 161006106 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.4261 p.R1421W 0.003 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 - - 122 0 0.00 129 63 32.81 LRG1 0 genome.wustl.edu 37 19 4538512 4538512 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 4538512 4538512 C T SNP LRG1 ENST00000306390 human ensembl 74_37 -1 known missense c.484 p.G162S 0.088 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 tier1 - - 51 0 0.00 68 25 26.88 LRP1B 0 genome.wustl.edu 37 2 141571273 141571273 + Missense_Mutation SNP T T G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 141571273 141571273 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5312 p.E1771A 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 53 0 0.00 70 26 27.08 MACF1 0 genome.wustl.edu 37 1 39951743 39951743 + RNA DEL A A - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 39951743 39951743 A - DEL MACF1 ENST00000496360 human ensembl 74_37 +1 known rna NULL NULL 0.084 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 24 0 0.00 30 3 9.09 MAEA 0 genome.wustl.edu 37 4 1333394 1333394 + RNA SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 4 1333394 1333394 C T SNP MAEA ENST00000512289 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MAEA HGNC ENSG00000090316 tier1 - - 18 0 0.00 19 7 26.92 MAP3K1 0 genome.wustl.edu 37 5 56167793 56167793 + Missense_Mutation SNP A A T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 5 56167793 56167793 A T SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.1358 p.E453V 1.000 pfscan_Znf_RING pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 - - 24 0 0.00 16 7 30.43 MASTL 0 genome.wustl.edu 37 10 27459855 27459855 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 10 27459855 27459855 G A SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.1967 p.R656Q 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_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_dom - no_errors MASTL HGNC ENSG00000120539 tier1 - - 22 0 0.00 23 10 29.41 MIR515-2 0 genome.wustl.edu 37 19 54188291 54188291 + RNA SNP C C A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 54188291 54188291 C A SNP MIR515-2 ENST00000384883 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR515-2 HGNC ENSG00000207615 tier1 - - 52 0 0.00 45 33 42.31 MMP1 0 genome.wustl.edu 37 11 102667492 102667492 + Silent SNP T T A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 11 102667492 102667492 T A SNP MMP1 ENST00000315274 human ensembl 74_37 -1 known silent c.528 p.G176 0.338 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP1 HGNC ENSG00000196611 tier1 - - 49 0 0.00 51 19 27.14 MUC16 0 genome.wustl.edu 37 19 9063581 9063581 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 9063581 9063581 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.23865 p.E7955 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 79 0 0.00 75 32 29.91 MYCL 0 genome.wustl.edu 37 1 40363231 40363231 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 40363231 40363231 G A SNP MYCL ENST00000372816 human ensembl 74_37 -1 known missense c.908 p.A303V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 tier1 - - 40 0 0.00 51 23 30.67 MYOC 0 genome.wustl.edu 37 1 171605481 171605481 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 171605481 171605481 C T SNP MYOC ENST00000037502 human ensembl 74_37 -1 known missense c.1099 p.G367R 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 tier1 rs74315334 - 75 0 0.00 70 30 30.00 NAV3 0 genome.wustl.edu 37 12 78513342 78513344 + In_Frame_Del DEL TGT TGT - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 12 78513342 78513344 TGT - DEL NAV3 ENST00000397909 human ensembl 74_37 +1 known in_frame_del c.3366_3368 p.V1124in_frame_del 0.197:0.311:0.228 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 56 0 0.00 43 13 23.21 NEGR1 0 genome.wustl.edu 37 1 72058523 72058523 + Missense_Mutation SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 72058523 72058523 G T SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.917 p.T306N 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 76 0 0.00 52 3 5.45 NID1 0 genome.wustl.edu 37 1 236176855 236176855 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 236176855 236176855 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2260 p.V754M 0.001 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 tier1 - - 38 0 0.00 22 14 38.89 NTM 0 genome.wustl.edu 37 11 132177606 132177606 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 11 132177606 132177606 G A SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.550 p.E184K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 tier1 - - 66 0 0.00 78 31 28.44 NTNG1 0 genome.wustl.edu 37 1 107691110 107691110 + RNA SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 107691110 107691110 C T SNP NTNG1 ENST00000462149 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors NTNG1 HGNC ENSG00000162631 tier1 - - 13 0 0.00 12 7 36.84 PABPC1 0 genome.wustl.edu 37 8 101730362 101730362 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 8 101730362 101730362 C T SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.340 p.A114T 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 49 0 0.00 71 5 6.58 PCDHA13 0 genome.wustl.edu 37 5 140263741 140263741 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 5 140263741 140263741 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1888 p.E630K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 93 0 0.00 58 47 44.76 PCSK1 0 genome.wustl.edu 37 5 95746477 95746477 + Splice_Site SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 5 95746477 95746477 C T SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known splice_site c.1095+1 e8+1 1.000 - - - no_errors PCSK1 HGNC ENSG00000175426 tier1 - - 46 0 0.00 18 14 43.75 PDP2 0 genome.wustl.edu 37 16 66919132 66919132 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 16 66919132 66919132 C T SNP PDP2 ENST00000311765 human ensembl 74_37 +1 known silent c.945 p.A315 0.001 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP2 HGNC ENSG00000172840 tier1 - - 32 0 0.00 39 18 31.58 PEG3 0 genome.wustl.edu 37 19 57326178 57326178 + Missense_Mutation SNP T T C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 57326178 57326178 T C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3632 p.N1211S 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 42 0 0.00 28 13 31.71 PIAS2 0 genome.wustl.edu 37 18 44424026 44424026 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 18 44424026 44424026 C T SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known silent c.1032 p.L344 1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 tier1 - - 71 0 0.00 64 4 5.88 PIEZO1 0 genome.wustl.edu 37 16 88803061 88803061 + Missense_Mutation SNP G G C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 16 88803061 88803061 G C SNP PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel missense c.1282 p.L428V 0.995 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 tier1 - - 10 0 0.00 10 8 44.44 PKD1 0 genome.wustl.edu 37 16 2160250 2160250 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 16 2160250 2160250 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.4918 p.G1640S 0.119 pfam_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 128 0 0.00 96 36 27.27 PLCL1 0 genome.wustl.edu 37 2 198950163 198950163 + Missense_Mutation SNP G G C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 198950163 198950163 G C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1922 p.R641T 0.998 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 17 0 0.00 32 6 15.79 PLIN4 0 genome.wustl.edu 37 19 4510468 4510468 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 4510468 4510468 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel silent c.3462 p.A1154 0.000 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 - - 79 0 0.00 67 20 22.99 PMS1 0 genome.wustl.edu 37 2 190660583 190660583 + Missense_Mutation SNP A A G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 190660583 190660583 A G SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known missense c.221 p.Y74C 0.998 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 tier1 - - 31 0 0.00 63 19 23.17 PRG4 0 genome.wustl.edu 37 1 186276143 186276145 + In_Frame_Del DEL CTC CTC - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 186276143 186276145 CTC 0 DEL PRG4 ENST00000445192 human ensembl 74_37 +1 known in_frame_del c.1292_1294 p.P432in_frame_del 0.002:0.000:0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 66 0 0.00 105 7 6.25 PTPRD 0 genome.wustl.edu 37 9 8636802 8636802 + Missense_Mutation SNP A A T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 9 8636802 8636802 A T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.107 p.V36D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 23 0 0.00 14 16 53.33 RASGRF1 0 genome.wustl.edu 37 15 79288108 79288108 + Missense_Mutation SNP T T A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 15 79288108 79288108 T A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.3049 p.I1017F 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 32 0 0.00 40 32 44.44 RN7SL759P 0 genome.wustl.edu 37 15 20776335 20776335 + RNA SNP T T G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 15 20776335 20776335 T G SNP RN7SL759P ENST00000485130 human ensembl 74_37 +1 known rna NULL NULL 0.144 - - - no_errors RN7SL759P HGNC ENSG00000242443 tier1 - - 21 0 0.00 31 14 31.11 RNMT 0 genome.wustl.edu 37 18 13740208 13740208 + Missense_Mutation SNP A A T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 18 13740208 13740208 A T SNP RNMT ENST00000262173 human ensembl 74_37 +1 known missense c.722 p.E241V 0.881 pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 tier1 - - 24 0 0.00 25 9 26.47 ROBO1 0 genome.wustl.edu 37 3 78688924 78688924 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 3 78688924 78688924 C T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.3007 p.D1003N 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 86 0 0.00 42 55 56.70 RSPH10B2 0 genome.wustl.edu 37 7 6798735 6798735 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 7 6798735 6798735 G A SNP RSPH10B2 ENST00000297186 human ensembl 74_37 +1 known missense c.275 p.R92H 0.378 pfam_MORN pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 tier1 rs199536223 - 15 0 0.00 17 9 34.62 SLC24A1 0 genome.wustl.edu 37 15 65930493 65930493 + Nonsense_Mutation SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 15 65930493 65930493 G T SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known nonsense c.1918 p.E640* 0.050 tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 tier1 - - 50 0 0.00 73 5 6.41 SLC9C2 0 genome.wustl.edu 37 1 173486717 173486717 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 173486717 173486717 G A SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.2866 p.R956C 0.012 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 35 0 0.00 23 15 39.47 SLCO6A1 0 genome.wustl.edu 37 5 101755694 101755694 + Silent SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 5 101755694 101755694 G T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known silent c.1308 p.G436 0.800 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 23 0 0.00 27 2 6.90 SNAI2 0 genome.wustl.edu 37 8 49833768 49833768 + Nonsense_Mutation SNP G G C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 8 49833768 49833768 G C SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known nonsense c.57 p.Y19* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 tier1 - - 54 0 0.00 22 21 48.84 SNTG1 0 genome.wustl.edu 37 8 51617159 51617159 + Splice_Site SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 8 51617159 51617159 G A SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known splice_site c.1039-1 e14-1 1.000 - - - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 27 0 0.00 33 16 32.65 SNX5 0 genome.wustl.edu 37 20 17934727 17934727 + Missense_Mutation SNP C C A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 20 17934727 17934727 C A SNP SNX5 ENST00000377759 human ensembl 74_37 -1 known missense c.302 p.G101V 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX5 HGNC ENSG00000089006 tier1 - - 52 0 0.00 53 24 31.17 SPIB 0 genome.wustl.edu 37 19 50922242 50922245 + Frame_Shift_Del DEL AGTA AGTA - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 AGTA AGTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 50922242 50922245 AGTA - DEL SPIB ENST00000595883 human ensembl 74_37 +1 known frame_shift_del c.23 p.Q8fs 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIB HGNC ENSG00000269404 tier1 81 0 0.00 63 12 16.00 TAF1D 0 genome.wustl.edu 37 11 93471452 93471453 + Frame_Shift_Ins INS - - T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 11 93471452 93471453 - T INS TAF1D ENST00000323981 human ensembl 74_37 -1 known frame_shift_ins c.282_281 p.K95fs 0.000:0.000 NULL NULL - no_errors TAF1D HGNC ENSG00000166012 tier1 41 0 0.00 35 8 18.60 TIMP3 0 genome.wustl.edu 37 22 33255310 33255310 + Nonsense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 22 33255310 33255310 G A SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known nonsense c.582 p.W194* 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 tier1 - - 30 0 0.00 33 17 34.00 TMPRSS9 0 genome.wustl.edu 37 19 2425009 2425009 + Missense_Mutation SNP C C G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 2425009 2425009 C G SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.2625 p.D875E 1.000 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 15 0 0.00 13 4 23.53 TOP2A 0 genome.wustl.edu 37 17 38562642 38562642 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 38562642 38562642 G A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known silent c.1947 p.I649 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 27 0 0.00 50 42 45.65 TOP2A 0 genome.wustl.edu 37 17 38562681 38562681 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 38562681 38562681 G A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known silent c.1908 p.I636 0.147 superfamily_Topo_IIA_like_dom,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 37 0 0.00 57 56 49.56 TOP2A 0 genome.wustl.edu 37 17 38562866 38562866 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 38562866 38562866 G A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.1813 p.H605Y 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 42 0 0.00 55 56 50.45 TOP2A 0 genome.wustl.edu 37 17 38562902 38562902 + Missense_Mutation SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 38562902 38562902 G A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.1777 p.P593S 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 29 0 0.00 51 44 46.32 TOP2A 0 genome.wustl.edu 37 17 38563099 38563099 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 38563099 38563099 G A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known silent c.1722 p.I574 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA,prints_TopoII_euk,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 39 0 0.00 39 31 44.29 TP53 0 genome.wustl.edu 37 17 7577144 7577146 + In_Frame_Del DEL AGT AGT - TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 AGT AGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 7577144 7577146 AGT - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.794_792 p.L265in_frame_del 1.000:0.980:0.433 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 26 0 0.00 15 7 31.82 TTN 0 genome.wustl.edu 37 2 179611821 179611821 + Silent SNP A A G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 179611821 179611821 A G SNP TTN ENST00000360870 human ensembl 74_37 -1 known silent c.15306 p.T5102 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 81 0 0.00 86 35 28.93 UBR5 0 genome.wustl.edu 37 8 103283449 103283449 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 8 103283449 103283449 C T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.6998 p.R2333Q 1.000 superfamily_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 - - 38 0 0.00 35 16 31.37 UCK2 0 genome.wustl.edu 37 1 165865444 165865444 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 165865444 165865444 C T SNP UCK2 ENST00000367879 human ensembl 74_37 +1 known missense c.374 p.T125I 0.207 pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 tier1 - - 47 0 0.00 44 25 36.23 UNC5D 0 genome.wustl.edu 37 8 35624429 35624429 + Missense_Mutation SNP T T A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 8 35624429 35624429 T A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2323 p.F775I 0.999 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 57 0 0.00 37 16 30.19 USP9X 0 genome.wustl.edu 37 X 41000020 41000020 + Missense_Mutation SNP A A C TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 X 41000020 41000020 A C SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.766 p.I256L 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 tier1 - - 71 0 0.00 126 10 7.35 VIT 0 genome.wustl.edu 37 2 36986238 36986238 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 2 36986238 36986238 C T SNP VIT ENST00000457137 human ensembl 74_37 +1 known missense c.536 p.T179M 0.000 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors VIT HGNC ENSG00000205221 tier1 rs61745550 - 27 0 0.00 17 10 37.04 WNK4 0 genome.wustl.edu 37 17 40937166 40937166 + Missense_Mutation SNP A A T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 17 40937166 40937166 A T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.1222 p.I408F 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 tier1 - - 72 0 0.00 91 22 19.47 YWHAH 0 genome.wustl.edu 37 22 32353391 32353392 + RNA INS - - TT TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 22 32353391 32353392 - TT INS YWHAH ENST00000471374 human ensembl 74_37 +1 known rna NULL NULL 0.998:1.000 - - - no_errors YWHAH HGNC ENSG00000128245 tier1 37 0 0.00 42 3 6.67 ZBTB17 0 genome.wustl.edu 37 1 16269989 16269989 + Missense_Mutation SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 16269989 16269989 C T SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.1602 p.M534I 0.970 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 tier1 - - 46 0 0.00 46 16 25.81 ZBTB38 0 genome.wustl.edu 37 3 141162393 141162393 + Missense_Mutation SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 3 141162393 141162393 G T SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.1166 p.R389L 0.349 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 tier1 - - 32 0 0.00 49 4 7.55 ZEB1 0 genome.wustl.edu 37 10 31791302 31791302 + Missense_Mutation SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 10 31791302 31791302 G T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.349 p.A117S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 36 0 0.00 46 4 8.00 ZIC2 0 genome.wustl.edu 37 13 100635191 100635191 + Missense_Mutation SNP C C G TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 13 100635191 100635191 C G SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known missense c.873 p.H291Q 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 tier1 - - 64 0 0.00 42 20 32.26 ZNF385A 0 genome.wustl.edu 37 12 54764155 54764155 + Missense_Mutation SNP C C A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 12 54764155 54764155 C A SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known missense c.1046 p.R349L 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 tier1 - - 50 0 0.00 58 45 43.69 ZNF487 0 genome.wustl.edu 37 10 43977986 43977986 + Missense_Mutation SNP C C A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 10 43977986 43977986 C A SNP ZNF487 ENST00000431662 human ensembl 74_37 +1 known missense c.901 p.L301I 0.750 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF487 HGNC ENSG00000243660 32 0 0.00 31 3 8.82 ZNF695 0 genome.wustl.edu 37 1 247151190 247151190 + Missense_Mutation SNP C C A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 1 247151190 247151190 C A SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.627 p.E209D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF695 HGNC ENSG00000197472 tier1 - - 35 0 0.00 36 15 29.41 ZNF816 0 genome.wustl.edu 37 19 53453725 53453725 + Silent SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 53453725 53453725 G T SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known silent c.1303 p.R435 0.017 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 tier1 - - 108 0 0.00 90 44 32.84 ZNF835 0 genome.wustl.edu 37 19 57175697 57175697 + Silent SNP G G A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 57175697 57175697 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.870 p.I290 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 90 0 0.00 107 10 8.55 ZNF845 0 genome.wustl.edu 37 19 53856048 53856048 + Missense_Mutation SNP T T A TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67 c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097 19 53856048 53856048 T A SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.2120 p.I707K 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 tier1 - - 57 0 0.00 105 9 7.89