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 ABCB7 0 genome.wustl.edu 37 X 74318841 74318841 + Missense_Mutation SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c X 74318841 74318841 G A SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known missense c.392 p.P131L 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB7 HGNC ENSG00000131269 tier1 - - 41 0 0.00 29 5 14.71 ABCC9 0 genome.wustl.edu 37 12 22069902 22069902 + Missense_Mutation SNP A A G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 12 22069902 22069902 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.542 p.M181T 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 189 0 0.00 405 129 24.11 ADAMTS18 0 genome.wustl.edu 37 16 77327149 77327149 + Missense_Mutation SNP T T C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 16 77327149 77327149 T C SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3013 p.K1005E 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 52 0 0.00 19 6 23.08 ADCY6 0 genome.wustl.edu 37 12 49169145 49169145 + Missense_Mutation SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 12 49169145 49169145 G A SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.1921 p.R641W 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 tier1 - - 50 0 0.00 18 19 51.35 AOC4P 0 genome.wustl.edu 37 17 41024609 41024609 + RNA SNP G G C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 17 41024609 41024609 G C SNP AOC4P ENST00000563852 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors AOC4P HGNC ENSG00000260105 tier1 - - 16 0 0.00 11 7 38.89 ARHGAP10 0 genome.wustl.edu 37 4 148744076 148744076 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 4 148744076 148744076 T G SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known missense c.280 p.L94V 0.904 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 tier1 - - 75 0 0.00 87 34 28.10 ASTN2 0 genome.wustl.edu 37 9 119737578 119737578 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 9 119737578 119737578 T G SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1798 p.S600R 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 50 0 0.00 36 10 21.74 BEND4 0 genome.wustl.edu 37 4 42122252 42122252 + Missense_Mutation SNP C C G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 4 42122252 42122252 C G SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.1206 p.E402D 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 tier1 - - 68 0 0.00 28 31 52.54 BPTF 0 genome.wustl.edu 37 17 65944314 65944314 + Missense_Mutation SNP G G C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 17 65944314 65944314 G C SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.8196 p.Q2732H 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 - - 51 0 0.00 29 17 36.96 C11orf87 0 genome.wustl.edu 37 11 109294443 109294443 + Silent SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 11 109294443 109294443 C T SNP C11orf87 ENST00000327419 human ensembl 74_37 +1 known silent c.84 p.S28 0.979 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors C11orf87 HGNC ENSG00000185742 tier1 - - 23 0 0.00 19 6 23.08 C2orf71 0 genome.wustl.edu 37 2 29296101 29296101 + Missense_Mutation SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 29296101 29296101 G A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.1027 p.L343F 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 78 0 0.00 49 20 28.99 C7orf66 0 genome.wustl.edu 37 7 108524088 108524088 + Silent SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 7 108524088 108524088 A C SNP C7orf66 ENST00000379007 human ensembl 74_37 -1 putative silent c.324 p.S108 0.004 NULL NULL - no_errors C7orf66 HGNC ENSG00000205174 tier1 - - 79 0 0.00 68 34 33.33 CACNA1G 0 genome.wustl.edu 37 17 48655758 48655758 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 17 48655758 48655758 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.2134 p.R712W 0.477 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 93 0 0.00 67 6 8.22 CDH9 0 genome.wustl.edu 37 5 26886108 26886108 + Missense_Mutation SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 5 26886108 26886108 G A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1597 p.L533F 0.967 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 122 0 0.00 131 9 6.43 CMYA5 0 genome.wustl.edu 37 5 79026782 79026782 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 5 79026782 79026782 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.2194 p.P732S 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 70 0 0.00 35 6 14.63 CNBD1 0 genome.wustl.edu 37 8 88296938 88296938 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 8 88296938 88296938 A C SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.804 p.E268D 0.008 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 - - 16 0 0.00 3 6 66.67 CNNM2 0 genome.wustl.edu 37 10 104828440 104828440 + Frame_Shift_Del DEL T T - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 10 104828440 104828440 T - DEL CNNM2 ENST00000369878 human ensembl 74_37 +1 known frame_shift_del c.2128 p.F710fs 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 28 0 0.00 4 2 33.33 CNTN6 0 genome.wustl.edu 37 3 1427371 1427371 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 3 1427371 1427371 A C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2594 p.N865T 0.572 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 132 0 0.00 57 32 35.96 CNTNAP4 0 genome.wustl.edu 37 16 76486619 76486619 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 16 76486619 76486619 A C SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.1283 p.K428T 0.828 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 CNTNAP4 HGNC ENSG00000152910 tier1 - - 56 0 0.00 19 13 40.62 COX4I2 0 genome.wustl.edu 37 20 30231270 30231270 + Missense_Mutation SNP C C G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 20 30231270 30231270 C G SNP COX4I2 ENST00000376075 human ensembl 74_37 +1 known missense c.311 p.T104R 0.997 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I2 HGNC ENSG00000131055 tier1 - - 65 0 0.00 47 34 41.98 CPNE6 0 genome.wustl.edu 37 14 24542209 24542209 + Missense_Mutation SNP G G C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 14 24542209 24542209 G C SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.229 p.V77L 0.971 superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 tier1 - - 26 0 0.00 21 9 30.00 CSMD1 0 genome.wustl.edu 37 8 3266998 3266998 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 8 3266998 3266998 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.1694 p.V565G 0.402 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 - - 18 0 0.00 4 7 63.64 CSMD3 0 genome.wustl.edu 37 8 113402993 113402993 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 8 113402993 113402993 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5834 p.K1945T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD3 HGNC ENSG00000164796 tier1 - - 58 0 0.00 29 10 25.64 CTLA4 0 genome.wustl.edu 37 2 204735579 204735579 + Missense_Mutation SNP A A G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 204735579 204735579 A G SNP CTLA4 ENST00000302823 human ensembl 74_37 +1 known missense c.380 p.Y127C 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4 - no_errors CTLA4 HGNC ENSG00000163599 tier1 - - 51 0 0.00 28 17 37.78 DCLK1 0 genome.wustl.edu 37 13 36700074 36700074 + Silent SNP T T A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 13 36700074 36700074 T A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known silent c.201 p.R67 0.244 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 59 0 0.00 51 22 30.14 DENND5B 0 genome.wustl.edu 37 12 31542342 31542342 + Missense_Mutation SNP C C A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 12 31542342 31542342 C A SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known missense c.3662 p.C1221F 1.000 pfam_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 19 0 0.00 71 8 10.13 DGKH 0 genome.wustl.edu 37 13 42764548 42764548 + Missense_Mutation SNP A A T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 13 42764548 42764548 A T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.1922 p.D641V 0.990 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 tier1 - - 144 0 0.00 113 55 32.74 DIDO1 0 genome.wustl.edu 37 20 61511216 61511216 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 20 61511216 61511216 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.6092 p.S2031N 0.919 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 121 0 0.00 76 10 11.63 DOCK6 0 genome.wustl.edu 37 19 11313297 11313297 + Missense_Mutation SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 19 11313297 11313297 G A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.5324 p.S1775L 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 171 0 0.00 75 40 34.78 DOK2 0 genome.wustl.edu 37 8 21767277 21767277 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 8 21767277 21767277 C T SNP DOK2 ENST00000276420 human ensembl 74_37 -1 known missense c.784 p.A262T 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 tier1 - - 64 0 0.00 19 21 52.50 EDNRB 0 genome.wustl.edu 37 13 78474695 78474695 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 13 78474695 78474695 A C SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.1046 p.L349R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 tier1 - - 57 0 0.00 68 20 22.73 EDNRB 0 genome.wustl.edu 37 13 78477702 78477702 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 13 78477702 78477702 T G SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.524 p.K175T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Bombsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 tier1 - - 70 0 0.00 39 15 27.78 EHMT2 0 genome.wustl.edu 37 6 31857079 31857079 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 6 31857079 31857079 C T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.1211 p.R404Q 0.999 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 tier1 rs201104297 - 44 0 0.00 11 18 62.07 EIF2AK1 0 genome.wustl.edu 37 7 6094220 6094220 + Silent SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 7 6094220 6094220 G A SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known silent c.234 p.H78 1.000 NULL 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 EIF2AK1 HGNC ENSG00000086232 tier1 rs140066459 - 86 0 0.00 83 36 30.25 ELN 0 genome.wustl.edu 37 7 73458248 73458248 + Missense_Mutation SNP C C A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 7 73458248 73458248 C A SNP ELN ENST00000358929 human ensembl 74_37 +1 known missense c.467 p.P156Q 0.985 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 tier1 - - 48 0 0.00 26 11 29.73 EMCN 0 genome.wustl.edu 37 4 101439161 101439161 + RNA SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 4 101439161 101439161 G A SNP EMCN ENST00000502327 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors EMCN HGNC ENSG00000164035 tier1 - - 22 0 0.00 5 18 78.26 ERBB4 0 genome.wustl.edu 37 2 212652850 212652850 + Missense_Mutation SNP G G C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 212652850 212652850 G C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.456 p.N152K 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 32 0 0.00 43 12 21.82 F13A1 0 genome.wustl.edu 37 6 6225077 6225077 + Missense_Mutation SNP T T C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 6 6225077 6225077 T C SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.815 p.D272G 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 tier1 - - 65 0 0.00 46 25 35.21 F9 0 genome.wustl.edu 37 X 138633258 138633258 + Silent SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c X 138633258 138633258 T G SNP F9 ENST00000218099 human ensembl 74_37 +1 known silent c.558 p.T186 0.000 pirsf_Pept_S1A_FX pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 tier1 - - 60 0 0.00 59 7 10.61 FAM84A 0 genome.wustl.edu 37 2 14774371 14774371 + Frame_Shift_Del DEL C C - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 14774371 14774371 C - DEL FAM84A ENST00000295092 human ensembl 74_37 +1 known frame_shift_del c.268 p.R90fs 1.000 NULL pfam_LRAT-like_dom - no_errors FAM84A HGNC ENSG00000162981 tier1 19 0 0.00 13 2 13.33 FBN3 0 genome.wustl.edu 37 19 8203039 8203039 + Frame_Shift_Del DEL C C - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 19 8203039 8203039 C - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.1187 p.G396fs 0.002 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 22 0 0.00 6 2 25.00 FGD4 0 genome.wustl.edu 37 12 32764182 32764182 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 12 32764182 32764182 C T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.1303 p.R435W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 tier1 - - 117 0 0.00 59 39 39.80 FGF13 0 genome.wustl.edu 37 X 137717659 137717659 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c X 137717659 137717659 T G SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.590 p.K197T 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 tier1 - - 85 0 0.00 30 40 57.14 FRMD4A 0 genome.wustl.edu 37 10 13701382 13701382 + Silent SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 10 13701382 13701382 G A SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known silent c.2007 p.S669 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 85 0 0.00 62 44 41.12 GRID2 0 genome.wustl.edu 37 4 94137982 94137982 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 4 94137982 94137982 A C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.883 p.S295R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 142 0 0.00 127 41 24.40 GRM3 0 genome.wustl.edu 37 7 86416181 86416181 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 7 86416181 86416181 A C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.1073 p.K358T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 31 0 0.00 21 10 32.26 GRM8 0 genome.wustl.edu 37 7 126086136 126086136 + Silent SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 7 126086136 126086136 A C SNP GRM8 ENST00000358373 human ensembl 74_37 -1 known silent c.2721 p.T907 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 80 0 0.00 66 5 7.04 IGSF22 0 genome.wustl.edu 37 11 18738297 18738297 + Silent SNP T T C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 11 18738297 18738297 T C SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known silent c.1224 p.Q408 0.988 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 66 0 0.00 26 24 48.00 IQGAP2 0 genome.wustl.edu 37 5 75906897 75906897 + Missense_Mutation SNP G G C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 5 75906897 75906897 G C SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.1410 p.L470F 0.005 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 tier1 - - 80 0 0.00 58 8 12.12 MAGEC1 0 genome.wustl.edu 37 X 140994424 140994424 + Missense_Mutation SNP A A G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c X 140994424 140994424 A G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1234 p.M412V 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 146 0 0.00 128 7 5.15 MIR497HG 0 genome.wustl.edu 37 17 6920186 6920186 + RNA SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 17 6920186 6920186 G A SNP MIR497HG ENST00000572453 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR497HG HGNC ENSG00000267532 tier1 - - 70 0 0.00 24 26 52.00 MIR558 0 genome.wustl.edu 37 2 32757240 32757240 + RNA SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 32757240 32757240 T G SNP MIR558 ENST00000384920 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR558 HGNC ENSG00000207653 tier1 rs199863671 - 46 0 0.00 37 7 15.91 MKNK1 0 genome.wustl.edu 37 1 47051632 47051632 + Missense_Mutation SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 1 47051632 47051632 G A SNP MKNK1 ENST00000474868 human ensembl 74_37 -1 known missense c.49 p.L17F 1.000 NULL NULL - no_errors MKNK1 HGNC ENSG00000079277 tier1 - - 44 0 0.00 23 10 30.30 MYNN 0 genome.wustl.edu 37 3 169504372 169504372 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 3 169504372 169504372 C T SNP MYNN ENST00000349841 human ensembl 74_37 +1 known missense c.1739 p.T580M 0.988 NULL 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 MYNN HGNC ENSG00000085274 tier1 - - 79 0 0.00 95 24 20.17 MYO18B 0 genome.wustl.edu 37 22 26224933 26224933 + Nonsense_Mutation SNP G G T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 22 26224933 26224933 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known nonsense c.2977 p.E993* 0.987 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 39 0 0.00 11 21 65.62 NCAPD2 0 genome.wustl.edu 37 12 6638626 6638626 + RNA SNP G G T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 12 6638626 6638626 G T SNP NCAPD2 ENST00000539885 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 27 0 0.00 4 13 76.47 NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 10 0 0.00 8 3 27.27 NRG1 0 genome.wustl.edu 37 8 32617811 32617811 + Silent SNP T T C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 8 32617811 32617811 T C SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.1179 p.T393 0.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 172 0 0.00 96 6 5.88 NRK 0 genome.wustl.edu 37 X 105178289 105178289 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c X 105178289 105178289 T G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.3355 p.S1119A 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 57 0 0.00 13 27 67.50 OR10AG1 0 genome.wustl.edu 37 11 55735239 55735239 + Missense_Mutation SNP G G T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 11 55735239 55735239 G T SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.701 p.S234Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 tier1 - - 47 0 0.00 24 16 40.00 OR2T10 0 genome.wustl.edu 37 1 248756396 248756396 + Missense_Mutation SNP A A T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 1 248756396 248756396 A T SNP OR2T10 ENST00000330500 human ensembl 74_37 -1 known missense c.674 p.I225N 0.074 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T10 HGNC ENSG00000184022 tier1 - - 53 0 0.00 30 18 37.50 OR2T2 0 genome.wustl.edu 37 1 248616135 248616135 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 1 248616135 248616135 T G SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.37 p.F13V 0.117 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 tier1 - - 92 0 0.00 80 17 17.35 OR2T33 0 genome.wustl.edu 37 1 248437020 248437020 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 1 248437020 248437020 C T SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.97 p.V33I 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 tier1 rs138653777 - 82 0 0.00 53 20 27.40 OR4N2 0 genome.wustl.edu 37 14 20295670 20295670 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 14 20295670 20295670 A C SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.63 p.Q21H 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 tier1 - - 102 0 0.00 141 9 6.00 OR51D1 0 genome.wustl.edu 37 11 4661522 4661522 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 11 4661522 4661522 T G SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known missense c.502 p.F168V 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 tier1 - - 141 0 0.00 53 40 43.01 PCDH15 0 genome.wustl.edu 37 10 55582244 55582244 + Missense_Mutation SNP G G T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 10 55582244 55582244 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5242 p.P1748T 0.063 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 32 0 0.00 9 13 59.09 PDE4A 0 genome.wustl.edu 37 19 10531525 10531525 + Frame_Shift_Del DEL C C - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 19 10531525 10531525 C - DEL PDE4A ENST00000352831 human ensembl 74_37 +1 known frame_shift_del c.85 p.P30fs 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 tier1 21 0 0.00 18 2 10.00 PFKFB3 0 genome.wustl.edu 37 10 6273228 6273228 + Missense_Mutation SNP G G T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 10 6273228 6273228 G T SNP PFKFB3 ENST00000379782 human ensembl 74_37 +1 known missense c.1541 p.R514L 1.000 NULL pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 tier1 - - 42 0 0.00 33 8 19.51 PIK3CG 0 genome.wustl.edu 37 7 106523592 106523592 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 7 106523592 106523592 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.2744 p.S915F 0.999 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 tier1 - - 124 0 0.00 103 44 29.93 PLA2G4D 0 genome.wustl.edu 37 15 42373790 42373790 + Silent SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 15 42373790 42373790 G A SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known silent c.844 p.L282 0.648 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 tier1 - - 77 0 0.00 20 36 64.29 PRR23B 0 genome.wustl.edu 37 3 138738748 138738748 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 3 138738748 138738748 T G SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known missense c.756 p.E252D 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 tier1 - - 31 0 0.00 34 22 39.29 PTPRJ 0 genome.wustl.edu 37 11 48166661 48166661 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 11 48166661 48166661 T G SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.2896 p.L966V 0.559 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 - - 114 0 0.00 51 32 38.55 RGS4 0 genome.wustl.edu 37 1 163042583 163042584 + RNA DEL TA TA - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 1 163042583 163042584 TA - DEL RGS4 ENST00000491263 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.000 - - - no_errors RGS4 HGNC ENSG00000117152 tier1 16 0 0.00 25 6 19.35 RRH 0 genome.wustl.edu 37 4 110756578 110756578 + Silent SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 4 110756578 110756578 C T SNP RRH ENST00000317735 human ensembl 74_37 +1 known silent c.354 p.V118 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 tier1 - - 102 0 0.00 32 77 70.64 SEPT7 0 genome.wustl.edu 37 7 35912363 35912363 + Missense_Mutation SNP G G T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 7 35912363 35912363 G T SNP SEPT7 ENST00000399034 human ensembl 74_37 +1 known missense c.367 p.D123Y 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin7 - no_errors SEPT7 HGNC ENSG00000122545 tier1 - - 96 0 0.00 97 36 27.07 SHANK1 0 genome.wustl.edu 37 19 51192500 51192500 + Missense_Mutation SNP C C G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 19 51192500 51192500 C G SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.2001 p.Q667H 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 118 0 0.00 59 4 6.35 SLC25A12 0 genome.wustl.edu 37 2 172700932 172700932 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 172700932 172700932 C T SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known missense c.412 p.G138R 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 tier1 - - 103 0 0.00 80 29 26.61 SNORD116-25 0 genome.wustl.edu 37 15 25342896 25342896 + RNA SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 15 25342896 25342896 A C SNP SNORD116-25 ENST00000516517 human ensembl 74_37 +1 known rna NULL NULL 0.110 - - - no_errors SNORD116-25 HGNC ENSG00000252326 tier1 - - 100 0 0.00 77 6 7.23 ST3GAL2 0 genome.wustl.edu 37 16 70416799 70416799 + Frame_Shift_Del DEL T T - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 16 70416799 70416799 T - DEL ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known frame_shift_del c.788 p.K263fs 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 tier1 20 0 0.00 14 8 36.36 SUPT20H 0 genome.wustl.edu 37 13 37625641 37625641 + RNA SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 13 37625641 37625641 A C SNP SUPT20H ENST00000470359 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors SUPT20H HGNC ENSG00000102710 tier1 - - 27 0 0.00 26 20 42.55 SWT1 0 genome.wustl.edu 37 1 185153427 185153427 + Silent SNP G G C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 1 185153427 185153427 G C SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known silent c.1191 p.L397 0.999 smart_PIN_dom smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 tier1 - - 85 0 0.00 89 37 29.37 SYNE2 0 genome.wustl.edu 37 14 64469841 64469841 + Missense_Mutation SNP C C A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 14 64469841 64469841 C A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.4190 p.T1397N 0.001 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 73 0 0.00 22 34 60.71 SYT10 0 genome.wustl.edu 37 12 33559904 33559904 + Silent SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 12 33559904 33559904 A C SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known silent c.897 p.T299 0.995 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 tier1 - - 74 0 0.00 39 18 31.58 TAF3 0 genome.wustl.edu 37 10 8007450 8007450 + Silent SNP A A G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 10 8007450 8007450 A G SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known silent c.1977 p.K659 0.999 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 tier1 - - 81 0 0.00 49 23 31.94 TAS2R10 0 genome.wustl.edu 37 12 10978711 10978711 + Missense_Mutation SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 12 10978711 10978711 G A SNP TAS2R10 ENST00000240619 human ensembl 74_37 -1 known missense c.158 p.S53L 0.983 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 tier1 - - 55 0 0.00 13 41 75.93 TBC1D23 0 genome.wustl.edu 37 3 100016779 100016779 + Missense_Mutation SNP C C G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 3 100016779 100016779 C G SNP TBC1D23 ENST00000394144 human ensembl 74_37 +1 known missense c.889 p.L297V 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 tier1 - - 55 0 0.00 84 7 7.69 TEK 0 genome.wustl.edu 37 9 27197493 27197493 + Missense_Mutation SNP T T C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 9 27197493 27197493 T C SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.1805 p.L602P 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 88 0 0.00 32 23 41.82 TFAP2D 0 genome.wustl.edu 37 6 50696968 50696968 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 6 50696968 50696968 T G SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.826 p.L276V 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 tier1 - - 142 0 0.00 122 11 8.27 TMEM200A 0 genome.wustl.edu 37 6 130762684 130762684 + Missense_Mutation SNP T T G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 6 130762684 130762684 T G SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.1117 p.L373V 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 tier1 - - 38 0 0.00 36 25 40.98 TMEM200C 0 genome.wustl.edu 37 18 5891938 5891938 + Missense_Mutation SNP A A G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 18 5891938 5891938 A G SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.125 p.V42A 1.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 tier1 - - 35 0 0.00 13 21 61.76 TMF1 0 genome.wustl.edu 37 3 69072370 69072370 + Silent SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 3 69072370 69072370 G A SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known silent c.3249 p.Y1083 1.000 pfam_TMF_TATA-bd pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 tier1 - - 29 0 0.00 16 11 40.74 TP53 0 genome.wustl.edu 37 17 7577520 7577520 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 17 7577520 7577520 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.761 p.I254S 1.000 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 - - 46 0 0.00 21 16 43.24 TPTE2 0 genome.wustl.edu 37 13 19997247 19997247 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 13 19997247 19997247 A C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.1524 p.I508M 0.629 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 tier1 - - 89 0 0.00 77 29 27.36 TTN 0 genome.wustl.edu 37 2 179480092 179480092 + Missense_Mutation SNP T T C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 179480092 179480092 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.40876 p.R13626G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 105 0 0.00 45 26 36.62 USP51 0 genome.wustl.edu 37 X 55514455 55514455 + Silent SNP T T C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c X 55514455 55514455 T C SNP USP51 ENST00000500968 human ensembl 74_37 -1 known silent c.918 p.E306 0.976 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 tier1 - - 50 0 0.00 15 28 65.12 WWC3 0 genome.wustl.edu 37 X 10085315 10085315 + Missense_Mutation SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c X 10085315 10085315 G A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.1216 p.E406K 0.681 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 tier1 - - 60 0 0.00 22 26 54.17 ZBTB38 0 genome.wustl.edu 37 3 141163979 141163979 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 3 141163979 141163979 C T SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.2752 p.R918C 1.000 NULL 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 - - 54 0 0.00 31 28 47.46 ZC3H15 0 genome.wustl.edu 37 2 187360000 187360000 + Frame_Shift_Del DEL A A - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 187360000 187360000 A - DEL ZC3H15 ENST00000337859 human ensembl 74_37 +1 known frame_shift_del c.116 p.Q39fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 tier1 24 0 0.00 6 2 25.00 ZDBF2 0 genome.wustl.edu 37 2 207174388 207174388 + Silent SNP T T C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 207174388 207174388 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.5136 p.F1712 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 41 0 0.00 12 19 61.29 ZEB1 0 genome.wustl.edu 37 10 31815808 31815808 + Silent SNP G G A TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 10 31815808 31815808 G A SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.2994 p.E998 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 - - 38 0 0.00 33 12 26.67 ZGPAT 0 genome.wustl.edu 37 20 62366739 62366739 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 20 62366739 62366739 C T SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known missense c.1280 p.P427L 0.012 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 tier1 - - 15 0 0.00 9 5 35.71 ZNF221 0 genome.wustl.edu 37 19 44470334 44470334 + Missense_Mutation SNP A A C TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 19 44470334 44470334 A C SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known missense c.680 p.K227T 0.000 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 ZNF221 HGNC ENSG00000159905 tier1 - - 155 0 0.00 75 73 49.32 ZNF347 0 genome.wustl.edu 37 19 53643727 53643727 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 19 53643727 53643727 C T SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.2357 p.R786K 0.000 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 ZNF347 HGNC ENSG00000197937 tier1 - - 205 0 0.00 158 15 8.67 ZNF501 0 genome.wustl.edu 37 3 44776578 44776578 + Missense_Mutation SNP A A T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 3 44776578 44776578 A T SNP ZNF501 ENST00000396048 human ensembl 74_37 +1 known missense c.665 p.E222V 0.969 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 tier1 - - 80 0 0.00 33 36 52.17 ZNF512 0 genome.wustl.edu 37 2 27821117 27821117 + Missense_Mutation SNP C C T TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 2 27821117 27821117 C T SNP ZNF512 ENST00000556601 human ensembl 74_37 +1 known missense c.5 p.S2L 0.079 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 tier1 - - 84 0 0.00 65 18 21.69 ZNF598 0 genome.wustl.edu 37 16 2049883 2049885 + In_Frame_Del DEL TCC TCC - TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 16 2049883 2049885 TCC - DEL ZNF598 ENST00000431526 human ensembl 74_37 -1 known in_frame_del c.1667_1665 p.E555in_frame_del 0.023:0.033:0.031 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 tier1 14 0 0.00 13 2 13.33 ZNF682 0 genome.wustl.edu 37 19 20117988 20117988 + Missense_Mutation SNP A A G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 19 20117988 20117988 A G SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known missense c.323 p.L108P 0.003 NULL 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 ZNF682 HGNC ENSG00000197124 tier1 - - 101 0 0.00 77 9 10.47 ZNF695 0 genome.wustl.edu 37 1 247150534 247150534 + Missense_Mutation SNP C C G TCGA-VQ-A8PK-01A-12D-A410-08 TCGA-VQ-A8PK-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2b47f30-e9f7-450d-a30b-8da8e25b8969 541b26f3-c1e1-45ef-8140-2ee1a3e9907c 1 247150534 247150534 C G SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.1283 p.R428T 1.000 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 ZNF695 HGNC ENSG00000197472 tier1 - - 47 0 0.00 58 9 13.43