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 ABCA3 0 genome.wustl.edu 37 16 2354019 2354019 + Missense_Mutation SNP A A T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 16 2354019 2354019 A T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.1418 p.V473D 0.992 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 - - 82 0 0.00 115 21 15.33 ADAM22 0 genome.wustl.edu 37 7 87763651 87763651 + Missense_Mutation SNP A A G TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 7 87763651 87763651 A G SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.1085 p.K362R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 118 0 0.00 293 24 7.57 APC2 0 genome.wustl.edu 37 19 1460807 1460807 + Missense_Mutation SNP T T C TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 19 1460807 1460807 T C SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.1472 p.M491T 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 28 0 0.00 27 3 10.00 ATG9A 0 genome.wustl.edu 37 2 220088827 220088827 + Splice_Site SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 2 220088827 220088827 C T SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known splice_site c.1265+1 e6+1 1.000 - - - no_errors ATG9A HGNC ENSG00000198925 tier1 - - 101 0 0.00 55 35 38.89 B3GNT9 0 genome.wustl.edu 37 16 67184137 67184137 + Missense_Mutation SNP G G T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 16 67184137 67184137 G T SNP B3GNT9 ENST00000449549 human ensembl 74_37 -1 known missense c.252 p.F84L 0.039 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 tier1 - - 30 0 0.00 18 7 28.00 BCL7A 0 genome.wustl.edu 37 12 122481896 122481896 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 12 122481896 122481896 G A SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known missense c.376 p.D126N 0.992 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 tier1 - - 83 0 0.00 79 9 10.23 CALN1 0 genome.wustl.edu 37 7 71488749 71488749 + Missense_Mutation SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 7 71488749 71488749 C T SNP CALN1 ENST00000395275 human ensembl 74_37 -1 known missense c.394 p.G132S 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALN1 HGNC ENSG00000183166 tier1 - - 54 0 0.00 82 6 6.82 CCDC104 0 genome.wustl.edu 37 2 55756107 55756107 + Silent SNP C C A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 2 55756107 55756107 C A SNP CCDC104 ENST00000339012 human ensembl 74_37 +1 known silent c.451 p.R151 1.000 NULL pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC ENSG00000163001 tier1 - - 40 0 0.00 48 6 10.91 CDH26 0 genome.wustl.edu 37 20 58562571 58562571 + Nonsense_Mutation SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 20 58562571 58562571 C T SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known nonsense c.901 p.R301* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 - - 38 0 0.00 44 12 21.43 CEP152 0 genome.wustl.edu 37 15 49031029 49031029 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 15 49031029 49031029 G A SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.4550 p.S1517L 0.057 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 82 0 0.00 65 5 7.14 CPS1 0 genome.wustl.edu 37 2 211465311 211465311 + Nonsense_Mutation SNP G G T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 2 211465311 211465311 G T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known nonsense c.1600 p.E534* 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 107 0 0.00 116 8 6.45 DKK2 0 genome.wustl.edu 37 4 107847029 107847029 + Nonsense_Mutation SNP G G T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 4 107847029 107847029 G T SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel nonsense c.300 p.C100* 1.000 pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 tier1 - - 70 0 0.00 68 11 13.92 DNM1P47 0 genome.wustl.edu 37 15 102297969 102297969 + RNA SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 15 102297969 102297969 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 12 0 0.00 4 3 42.86 DUSP10 0 genome.wustl.edu 37 1 221875661 221875662 + RNA INS - - A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 1 221875661 221875662 - A INS DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 28 0 0.00 30 4 11.76 FICD 0 genome.wustl.edu 37 12 108913126 108913126 + Missense_Mutation SNP C C A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 12 108913126 108913126 C A SNP FICD ENST00000552695 human ensembl 74_37 +1 known missense c.1251 p.F417L 1.000 superfamily_Fido pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 tier1 - - 40 0 0.00 43 5 10.42 FNDC4 0 genome.wustl.edu 37 2 27717517 27717517 + Frame_Shift_Del DEL G G - TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 2 27717517 27717517 G - DEL FNDC4 ENST00000264703 human ensembl 74_37 -1 known frame_shift_del c.30 p.S11fs 0.915 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC ENSG00000115226 tier1 9 0 0.00 11 2 15.38 FTSJ3 0 genome.wustl.edu 37 17 61901743 61901743 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 17 61901743 61901743 G A SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.946 p.R316W 1.000 pfam_rRNA_MeTfrase_Spb1_DUF3381 pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 tier1 rs149474852 - 69 0 0.00 68 22 24.44 ICAM4 0 genome.wustl.edu 37 19 10397718 10397719 + Frame_Shift_Ins INS - - T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 19 10397718 10397719 - T INS ICAM4 ENST00000340992 human ensembl 74_37 +1 known frame_shift_ins c.30_31 p.L12fs 0.002:0.004 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 tier1 21 0 0.00 12 3 20.00 IFNA4 0 genome.wustl.edu 37 9 21187179 21187179 + Missense_Mutation SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 9 21187179 21187179 C T SNP IFNA4 ENST00000421715 human ensembl 74_37 -1 known missense c.352 p.D118N 0.002 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 ENSG00000236637 tier1 - - 94 0 0.00 73 9 10.98 KAT6A 0 genome.wustl.edu 37 8 41906305 41906305 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 8 41906305 41906305 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.191 p.S64L 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 tier1 - - 142 0 0.00 132 33 20.00 KIAA0232 0 genome.wustl.edu 37 4 6864664 6864664 + Missense_Mutation SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 4 6864664 6864664 C T SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.2555 p.S852L 0.853 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 tier1 - - 99 0 0.00 65 13 16.46 MAD1L1 0 genome.wustl.edu 37 7 1997278 1997278 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 7 1997278 1997278 G A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1582 p.R528W 0.064 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 tier1 - - 58 0 0.00 62 15 19.23 MECOM 0 genome.wustl.edu 37 3 168834302 168834302 + Missense_Mutation SNP T T C TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 3 168834302 168834302 T C SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.1358 p.K453R 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 - - 61 0 0.00 108 8 6.90 MICAL3 0 genome.wustl.edu 37 22 18354693 18354693 + Missense_Mutation SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 22 18354693 18354693 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.2338 p.E780K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 21 0 0.00 13 8 38.10 MKI67 0 genome.wustl.edu 37 10 129902577 129902577 + Silent SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 10 129902577 129902577 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.7527 p.T2509 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 175 0 0.00 173 21 10.82 MST1L 0 genome.wustl.edu 37 1 17085006 17085006 + RNA SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 1 17085006 17085006 C T SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors MST1L HGNC ENSG00000186715 tier1 rs201784242 - 47 0 0.00 48 9 15.79 MYH2 0 genome.wustl.edu 37 17 10441020 10441020 + Missense_Mutation SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 17 10441020 10441020 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.1549 p.G517R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 129 0 0.00 117 36 23.53 NEXN 0 genome.wustl.edu 37 1 78390891 78390891 + Missense_Mutation SNP A A G TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 1 78390891 78390891 A G SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.466 p.T156A 1.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 tier1 - - 62 0 0.00 72 7 8.75 NR3C2 0 genome.wustl.edu 37 4 149357083 149357083 + Silent SNP A A T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 4 149357083 149357083 A T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.930 p.V310 0.988 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 tier1 - - 59 0 0.00 47 10 17.54 NR3C2 0 genome.wustl.edu 37 4 149357085 149357085 + Missense_Mutation SNP C C A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 4 149357085 149357085 C A SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.928 p.V310F 0.859 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 tier1 - - 57 0 0.00 49 9 15.52 OC90 0 genome.wustl.edu 37 8 133051317 133051317 + Missense_Mutation SNP C C G TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 8 133051317 133051317 C G SNP OC90 ENST00000443356 human ensembl 74_37 -1 known missense c.511 p.E171Q 0.994 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 25 0 0.00 30 3 9.09 OR2D3 0 genome.wustl.edu 37 11 6942854 6942857 + Frame_Shift_Del DEL ACTT ACTT - TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 ACTT ACTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 11 6942854 6942857 ACTT - DEL OR2D3 ENST00000317834 human ensembl 74_37 +1 known frame_shift_del c.622_625 p.Y209fs 0.404:0.309:0.001:0.415 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 tier1 42 0 0.00 40 4 9.09 OR2L13 0 genome.wustl.edu 37 1 248263421 248263421 + Silent SNP C C A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 1 248263421 248263421 C A SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known silent c.744 p.I248 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L13 HGNC ENSG00000196071 tier1 - - 57 0 0.00 78 12 13.33 OR4C12 0 genome.wustl.edu 37 11 50003607 50003607 + Missense_Mutation SNP G G T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 11 50003607 50003607 G T SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.431 p.A144E 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 tier1 - - 160 0 0.00 168 24 12.50 OR6C65 0 genome.wustl.edu 37 12 55794610 55794610 + Frame_Shift_Del DEL T T - TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 12 55794610 55794610 T 0 DEL OR6C65 ENST00000379665 human ensembl 74_37 +1 known frame_shift_del c.298 p.L102fs 0.976 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C65 HGNC ENSG00000205328 100 0 0.00 106 10 8.62 P4HB 0 genome.wustl.edu 37 17 79813368 79813368 + Silent SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 17 79813368 79813368 C T SNP P4HB ENST00000331483 human ensembl 74_37 -1 known silent c.447 p.L149 0.999 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 tier1 - - 50 0 0.00 61 9 12.86 PCDHA1 0 genome.wustl.edu 37 5 140167380 140167380 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 5 140167380 140167380 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1505 p.R502H 0.819 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 PCDHA1 HGNC ENSG00000204970 tier1 - - 74 0 0.00 96 27 21.95 PCOLCE2 0 genome.wustl.edu 37 3 142567194 142567194 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 3 142567194 142567194 G A SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.313 p.R105C 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 tier1 - - 82 0 0.00 132 7 5.04 PDCD4 0 genome.wustl.edu 37 10 112657917 112657917 + RNA DEL T T - TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 10 112657917 112657917 T - DEL PDCD4 ENST00000498367 human ensembl 74_37 +1 known rna NULL NULL 0.865 - - - no_errors PDCD4 HGNC ENSG00000150593 tier1 28 0 0.00 21 3 12.50 PDP1 0 genome.wustl.edu 37 8 94934820 94934820 + Missense_Mutation SNP A A T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 8 94934820 94934820 A T SNP PDP1 ENST00000396200 human ensembl 74_37 +1 known missense c.608 p.N203I 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP1 HGNC ENSG00000164951 41 0 0.00 37 2 5.13 POTEC 0 genome.wustl.edu 37 18 14542868 14542868 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 18 14542868 14542868 G A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.278 p.T93M 0.007 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 POTEC HGNC ENSG00000183206 tier1 - - 208 0 0.00 153 27 15.00 PTPN23 0 genome.wustl.edu 37 3 47450671 47450671 + Missense_Mutation SNP A A C TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 3 47450671 47450671 A C SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.1661 p.Q554P 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 - - 55 0 0.00 41 5 10.87 PTPRZ1 0 genome.wustl.edu 37 7 121698980 121698980 + Missense_Mutation SNP A A G TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 7 121698980 121698980 A G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.6655 p.M2219V 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 85 0 0.00 86 11 11.34 RAD9A 0 genome.wustl.edu 37 11 67161167 67161167 + Missense_Mutation SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 11 67161167 67161167 C T SNP RAD9A ENST00000307980 human ensembl 74_37 +1 known missense c.355 p.R119W 0.984 pfam_Rad9/Ddc1,pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9A HGNC ENSG00000172613 tier1 - - 33 0 0.00 30 4 11.76 RHAG 0 genome.wustl.edu 37 6 49587023 49587024 + Frame_Shift_Del DEL GG GG - TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 6 49587023 49587024 GG - DEL RHAG ENST00000371175 human ensembl 74_37 -1 known frame_shift_del c.210_209 p.T70fs 0.997:1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 tier1 64 0 0.00 52 6 10.34 RP1L1 0 genome.wustl.edu 37 8 10467579 10467581 + In_Frame_Del DEL TTC TTC - TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 8 10467579 10467581 TTC - DEL RP1L1 ENST00000382483 human ensembl 74_37 -1 known in_frame_del c.4029_4027 p.E1343in_frame_del 0.003:0.005:0.013 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 31 0 0.00 24 4 14.29 SAMD9 0 genome.wustl.edu 37 7 92731623 92731623 + Missense_Mutation SNP G G T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 7 92731623 92731623 G T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.3788 p.S1263Y 0.105 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 68 0 0.00 272 22 7.48 SIK2 0 genome.wustl.edu 37 11 111575769 111575769 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 11 111575769 111575769 G A SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.1007 p.R336H 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 tier1 - - 129 0 0.00 118 9 7.09 SLFN11 0 genome.wustl.edu 37 17 33690208 33690208 + Missense_Mutation SNP A A G TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 17 33690208 33690208 A G SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.619 p.F207L 0.064 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 tier1 - - 140 0 0.00 139 25 15.06 SMARCA1 0 genome.wustl.edu 37 X 128638729 128638729 + Silent SNP G G C TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb X 128638729 128638729 G C SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known silent c.1149 p.L383 0.998 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 tier1 - - 106 0 0.00 84 35 29.41 SOX15 0 genome.wustl.edu 37 17 7491817 7491817 + Missense_Mutation SNP T T A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 17 7491817 7491817 T A SNP SOX15 ENST00000250055 human ensembl 74_37 -1 known missense c.581 p.Q194L 0.864 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX15 HGNC ENSG00000129194 tier1 - - 129 0 0.00 60 21 25.93 STAT5B 0 genome.wustl.edu 37 17 40370281 40370281 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 17 40370281 40370281 G A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.1057 p.R353C 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 tier1 - - 59 0 0.00 73 14 16.09 SYN3 0 genome.wustl.edu 37 22 32923971 32923971 + Missense_Mutation SNP T T G TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 22 32923971 32923971 T G SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known missense c.1252 p.K418Q 0.956 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 tier1 - - 15 0 0.00 12 4 25.00 TBC1D20 0 genome.wustl.edu 37 20 422484 422484 + RNA SNP T T C TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 20 422484 422484 T C SNP TBC1D20 ENST00000461188 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D20 HGNC ENSG00000125875 tier1 - - 65 0 0.00 76 11 12.64 TIAM1 0 genome.wustl.edu 37 21 32624209 32624209 + Silent SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 21 32624209 32624209 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.1260 p.P420 0.896 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 63 0 0.00 71 15 17.44 TLL1 0 genome.wustl.edu 37 4 166981284 166981284 + Missense_Mutation SNP C C G TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 4 166981284 166981284 C G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1951 p.P651A 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 49 0 0.00 54 5 8.47 TRIM72 0 genome.wustl.edu 37 16 31234240 31234240 + Missense_Mutation SNP G G T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 16 31234240 31234240 G T SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known missense c.833 p.R278M 1.000 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 tier1 - - 63 0 0.00 51 17 25.00 UPK1A 0 genome.wustl.edu 37 19 36159455 36159455 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 19 36159455 36159455 G A SNP UPK1A ENST00000379013 human ensembl 74_37 +1 known missense c.184 p.A62T 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 41 0 0.00 68 4 5.56 USP32 0 genome.wustl.edu 37 17 58288421 58288421 + Missense_Mutation SNP C C T TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 17 58288421 58288421 C T SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.2377 p.E793K 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 tier1 rs146577219 - 29 0 0.00 29 18 38.30 ZBTB5 0 genome.wustl.edu 37 9 37441608 37441608 + Missense_Mutation SNP T T C TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 9 37441608 37441608 T C SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.941 p.N314S 0.527 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 tier1 - - 109 0 0.00 175 21 10.71 ZNF280D 0 genome.wustl.edu 37 15 56946703 56946704 + Splice_Site INS - - A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 15 56946703 56946704 - A INS ZNF280D ENST00000267807 human ensembl 74_37 -1 known splice_site_ins c.2058-3_2058-2 e16-2 1.000:0.001 - - - no_errors ZNF280D HGNC ENSG00000137871 tier1 66 0 0.00 62 22 26.19 ZNF324B 0 genome.wustl.edu 37 19 58967577 58967577 + Silent SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 19 58967577 58967577 G A SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known silent c.1266 p.E422 0.930 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 ZNF324B HGNC ENSG00000249471 tier1 - - 44 0 0.00 34 15 30.00 ZNF804B 0 genome.wustl.edu 37 7 88963128 88963128 + Missense_Mutation SNP G G A TCGA-VQ-AA6F-01A-31D-A410-08 TCGA-VQ-AA6F-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4083fc2e-31e8-45ca-9625-1e84267a9843 33e66379-886c-4f23-b94f-5ff6a08d52bb 7 88963128 88963128 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.832 p.E278K 0.976 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 36 0 0.00 92 5 5.15