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 ABCA13 0 genome.wustl.edu 37 7 48312196 48312196 + Missense_Mutation SNP T T C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 48312196 48312196 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2933 p.I978T 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 33 0 0.00 43 10 18.87 ABCC12 0 genome.wustl.edu 37 16 48125058 48125058 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 48125058 48125058 G A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known silent c.3258 p.S1086 0.008 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 ABCC12 HGNC ENSG00000140798 24 0 0.00 21 9 30.00 ADAM29 0 genome.wustl.edu 37 4 175898847 175898847 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 4 175898847 175898847 G T SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.2171 p.R724L 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM29 HGNC ENSG00000168594 52 0 0.00 31 4 11.43 ADCY9 0 genome.wustl.edu 37 16 4164627 4164627 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 4164627 4164627 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.817 p.G273R 0.003 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 25 0 0.00 25 10 28.57 AGO3 0 genome.wustl.edu 37 1 36437667 36437667 + Missense_Mutation SNP C C G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 36437667 36437667 C G SNP AGO3 ENST00000373191 human ensembl 74_37 +1 known missense c.355 p.R119G 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO3 HGNC ENSG00000126070 30 0 0.00 25 2 7.41 AMER1 0 genome.wustl.edu 37 X 63412561 63412561 + Silent SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 X 63412561 63412561 G T SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known silent c.606 p.A202 0.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 66 0 0.00 50 4 7.41 AMOTL2 0 genome.wustl.edu 37 3 134089587 134089587 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 3 134089587 134089587 C A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.689 p.R230L 0.518 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 33 0 0.00 25 2 7.41 ANK1 0 genome.wustl.edu 37 8 41557028 41557028 + Missense_Mutation SNP A A T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 41557028 41557028 A T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2500 p.S834T 0.414 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 19 0 0.00 24 5 17.24 ANKRD30A 0 genome.wustl.edu 37 10 37442563 37442563 + Missense_Mutation SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 10 37442563 37442563 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1603 p.I535V 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 148 0 0.00 111 41 26.97 ANKS1B 0 genome.wustl.edu 37 12 99640199 99640199 + Missense_Mutation SNP T T C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 12 99640199 99640199 T C SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.2200 p.S734G 0.952 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 37 0 0.00 45 6 11.76 ARID1A 0 genome.wustl.edu 37 1 27057668 27057668 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 27057668 27057668 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.1376 p.P459L 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 51 0 0.00 41 11 21.15 ATP2B4 0 genome.wustl.edu 37 1 203668687 203668687 + Missense_Mutation SNP T T C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 203668687 203668687 T C SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.491 p.L164S 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 56 0 0.00 48 12 20.00 B4GALT6 0 genome.wustl.edu 37 18 29218605 29218605 + Splice_Site SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 18 29218605 29218605 A G SNP B4GALT6 ENST00000306851 human ensembl 74_37 -1 known splice_site c.588+2 e5+2 1.000 - - - no_errors B4GALT6 HGNC ENSG00000118276 58 0 0.00 31 4 11.43 BCL10 0 genome.wustl.edu 37 1 85733626 85733626 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 85733626 85733626 G A SNP BCL10 ENST00000370580 human ensembl 74_37 -1 known missense c.386 p.A129V 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 28 0 0.00 34 4 10.53 BCL9 0 genome.wustl.edu 37 1 147090734 147090734 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 147090734 147090734 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.773 p.P258L 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 27 0 0.00 9 2 18.18 BRWD1 0 genome.wustl.edu 37 21 40590524 40590524 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 21 40590524 40590524 G A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.3445 p.L1149F 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 77 0 0.00 55 4 6.78 C1S 0 genome.wustl.edu 37 12 7175811 7175811 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 12 7175811 7175811 C T SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.1247 p.P416L 0.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 63 0 0.00 41 10 19.61 C5 0 genome.wustl.edu 37 9 123738997 123738997 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 123738997 123738997 C T SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.3845 p.G1282D 0.998 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 45 0 0.00 39 5 11.36 CAND2 0 genome.wustl.edu 37 3 12892166 12892166 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 3 12892166 12892166 C T SNP CAND2 ENST00000454887 human ensembl 74_37 +1 putative silent c.276 p.N92 1.000 pfam_TATA-bd_TIP120,superfamily_ARM-type_fold pfam_TATA-bd_TIP120,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 59 0 0.00 32 7 17.95 CAPN6 0 genome.wustl.edu 37 X 110496391 110496391 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 X 110496391 110496391 G A SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known silent c.351 p.Y117 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 62 0 0.00 44 7 13.73 CBL 0 genome.wustl.edu 37 11 119155736 119155736 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 11 119155736 119155736 C T SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.1489 p.P497S 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 43 0 0.00 61 4 6.15 CCDC175 0 genome.wustl.edu 37 14 60004862 60004862 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 14 60004862 60004862 C T SNP CCDC175 ENST00000281581 human ensembl 74_37 -1 known missense c.1502 p.R501K 0.003 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 56 0 0.00 46 4 8.00 CCDC63 0 genome.wustl.edu 37 12 111311719 111311719 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 12 111311719 111311719 G T SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known missense c.443 p.R148L 0.972 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 34 0 0.00 25 2 7.41 CCL7 0 genome.wustl.edu 37 17 32597294 32597294 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 17 32597294 32597294 G T SNP CCL7 ENST00000200307 human ensembl 74_37 +1 known missense c.15 p.M5I 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL7 HGNC ENSG00000108688 17 0 0.00 16 11 39.29 CCR9 0 genome.wustl.edu 37 3 45943257 45943257 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 3 45943257 45943257 G A SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.977 p.R326Q 0.865 prints_Chemokine_CCR9,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 19 0 0.00 12 5 29.41 CD163 0 genome.wustl.edu 37 12 7635290 7635290 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 12 7635290 7635290 C T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.3196 p.V1066I 0.001 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 24 0 0.00 27 5 15.62 CDKN2A 0 genome.wustl.edu 37 9 21974668 21974668 + Missense_Mutation SNP T T A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 21974668 21974668 T A SNP CDKN2A ENST00000380151 human ensembl 74_37 -1 known missense c.159 p.R53S 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 22 0 0.00 13 4 23.53 CDKN2A 0 genome.wustl.edu 37 9 21974670 21974670 + Silent SNP T T G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 21974670 21974670 T G SNP CDKN2A ENST00000380151 human ensembl 74_37 -1 known silent c.157 p.R53 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 20 0 0.00 13 4 23.53 CEBPZ 0 genome.wustl.edu 37 2 37455900 37455900 + Nonsense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 37455900 37455900 C A SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known nonsense c.436 p.E146* 0.582 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 73 0 0.00 71 4 5.33 CELF4 0 genome.wustl.edu 37 18 34833808 34833808 + Missense_Mutation SNP A A C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 18 34833808 34833808 A C SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.1427 p.L476R 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 48 0 0.00 20 5 20.00 COG5 0 genome.wustl.edu 37 7 106964908 106964908 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 106964908 106964908 G A SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.1178 p.S393F 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 140 0 0.00 119 52 30.41 COL6A3 0 genome.wustl.edu 37 2 238285682 238285682 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 238285682 238285682 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.2803 p.R935W 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 20 0 0.00 18 5 21.74 COMT 0 genome.wustl.edu 37 22 19956208 19956208 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 22 19956208 19956208 C T SNP COMT ENST00000361682 human ensembl 74_37 +1 known silent c.765 p.D255 0.853 pirsf_Catechol_O-MeTrfase_euk pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk - no_errors COMT HGNC ENSG00000093010 17 0 0.00 19 3 13.64 CRMP1 0 genome.wustl.edu 37 4 5830268 5830268 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 4 5830268 5830268 G A SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1751 p.P584L 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 49 0 0.00 26 14 35.00 CSGALNACT2 0 genome.wustl.edu 37 10 43678922 43678922 + Missense_Mutation SNP T T C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 10 43678922 43678922 T C SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known missense c.1561 p.F521L 1.000 NULL pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 57 0 0.00 34 23 40.35 CSMD3 0 genome.wustl.edu 37 8 113812439 113812439 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 113812439 113812439 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1924 p.Q642K 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 59 0 0.00 61 4 6.15 CSNK2A2 0 genome.wustl.edu 37 16 58200582 58200582 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 58200582 58200582 G A SNP CSNK2A2 ENST00000262506 human ensembl 74_37 -1 known missense c.733 p.R245C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A2 HGNC ENSG00000070770 26 0 0.00 25 19 43.18 CTNNA1 0 genome.wustl.edu 37 5 138160336 138160336 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 138160336 138160336 G T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.706 p.A236S 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 26 0 0.00 17 3 15.00 CUBN 0 genome.wustl.edu 37 10 16870956 16870956 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 10 16870956 16870956 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.10612 p.E3538K 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 55 0 0.00 60 6 9.09 DAAM2 0 genome.wustl.edu 37 6 39846025 39846034 + Frame_Shift_Del DEL AAGTTCCGGA AAGTTCCGGA - TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 AAGTTCCGGA AAGTTCCGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 39846025 39846034 AAGTTCCGGA 0 DEL DAAM2 ENST00000274867 human ensembl 74_37 +1 known frame_shift_del c.1348_1357 p.F451fs 1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 30 0 0.00 27 8 22.86 DCHS1 0 genome.wustl.edu 37 11 6648208 6648208 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 11 6648208 6648208 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.6062 p.R2021H 0.985 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 35 0 0.00 18 9 33.33 DCHS2 0 genome.wustl.edu 37 4 155278439 155278439 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 4 155278439 155278439 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.732 p.V244 0.003 pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 70 0 0.00 47 17 26.56 DLGAP5 0 genome.wustl.edu 37 14 55647457 55647457 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 14 55647457 55647457 C T SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known missense c.620 p.R207Q 0.999 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 65 0 0.00 57 8 12.31 DNAJB7 0 genome.wustl.edu 37 22 41257666 41257666 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 22 41257666 41257666 G T SNP DNAJB7 ENST00000307221 human ensembl 74_37 -1 known missense c.333 p.F111L 1.000 superfamily_ConA-like_lec_gl_sf pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB7 HGNC ENSG00000172404 38 0 0.00 38 2 5.00 DOPEY1 0 genome.wustl.edu 37 6 83830443 83830443 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 83830443 83830443 G T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.1032 p.E344D 0.998 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 81 0 0.00 65 4 5.80 EFNB1 0 genome.wustl.edu 37 X 68060496 68060496 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 X 68060496 68060496 G A SNP EFNB1 ENST00000204961 human ensembl 74_37 +1 known silent c.1040 p.*347 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 38 0 0.00 21 11 34.38 ELANE 0 genome.wustl.edu 37 19 855780 855780 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 855780 855780 G A SNP ELANE ENST00000263621 human ensembl 74_37 +1 known missense c.583 p.A195T 0.380 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 50 0 0.00 24 12 33.33 ENSG00000239922 0 genome.wustl.edu 37 3 147657860 147657860 + RNA SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 3 147657860 147657860 C T SNP ENSG00000239922 ENST00000467198 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-71N10.1 Clone_based_vega_gene ENSG00000239922 42 0 0.00 38 6 13.64 EP400 0 genome.wustl.edu 37 12 132446460 132446460 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 12 132446460 132446460 G T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.1296 p.E432D 0.957 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 30 0 0.00 33 2 5.71 ERBB2 0 genome.wustl.edu 37 17 37865579 37865579 + Missense_Mutation SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 17 37865579 37865579 A G SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.448 p.K150E 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 ERBB2 HGNC ENSG00000141736 24 0 0.00 14 8 36.36 ERCC4 0 genome.wustl.edu 37 16 14014129 14014129 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 14014129 14014129 C A SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known missense c.107 p.A36D 1.000 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 66 0 0.00 73 4 5.19 EXOSC5 0 genome.wustl.edu 37 19 41898857 41898857 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 41898857 41898857 G A SNP EXOSC5 ENST00000221233 human ensembl 74_37 -1 known silent c.177 p.Y59 0.960 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC5 HGNC ENSG00000077348 33 0 0.00 18 4 18.18 EYA3 0 genome.wustl.edu 37 1 28319962 28319962 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 28319962 28319962 G T SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.1252 p.R418S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 36 0 0.00 28 2 6.67 FANCB 0 genome.wustl.edu 37 X 14862007 14862007 + Missense_Mutation SNP G G C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 X 14862007 14862007 G C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.2262 p.F754L 0.017 NULL NULL - no_errors FANCB HGNC ENSG00000181544 62 0 0.00 30 15 33.33 FAT3 0 genome.wustl.edu 37 11 92577542 92577542 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 11 92577542 92577542 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11009 p.R3670Q 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 38 0 0.00 27 7 20.59 FBLL1 0 genome.wustl.edu 37 5 167956929 167956929 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 167956929 167956929 C T SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative silent c.420 p.G140 0.996 pfam_Fibrillarin,pirsf_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 34 0 0.00 21 4 16.00 FBXL12 0 genome.wustl.edu 37 19 9921708 9921708 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 9921708 9921708 G T SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known missense c.845 p.P282H 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 71 0 0.00 59 4 6.35 FBXL12 0 genome.wustl.edu 37 19 9922195 9922195 + Missense_Mutation SNP T T C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 9922195 9922195 T C SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known missense c.358 p.T120A 0.990 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 50 0 0.00 38 19 33.33 FKBP6 0 genome.wustl.edu 37 7 72745765 72745765 + Splice_Site SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 72745765 72745765 G A SNP FKBP6 ENST00000429879 human ensembl 74_37 +1 known splice_site c.573+1 e5+1 1.000 - - - no_errors FKBP6 HGNC ENSG00000077800 50 0 0.00 48 4 7.69 FNDC1 0 genome.wustl.edu 37 6 159660605 159660605 + Nonsense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 159660605 159660605 C T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known nonsense c.4237 p.R1413* 0.814 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 69 0 0.00 43 24 35.82 FOCAD 0 genome.wustl.edu 37 9 20944647 20944647 + Silent SNP T T C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 20944647 20944647 T C SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.3429 p.V1143 1.000 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 41 0 0.00 54 4 6.90 FTMT 0 genome.wustl.edu 37 5 121188111 121188111 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 121188111 121188111 C T SNP FTMT ENST00000321339 human ensembl 74_37 +1 known silent c.453 p.D151 0.303 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 31 0 0.00 17 13 43.33 FUBP3 0 genome.wustl.edu 37 9 133510070 133510070 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 133510070 133510070 G A SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known silent c.1527 p.P509 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 37 0 0.00 18 11 37.93 GIGYF2 0 genome.wustl.edu 37 2 233655987 233655987 + Silent SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 233655987 233655987 C A SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known silent c.1179 p.P393 0.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 45 0 0.00 37 4 9.76 GLI3 0 genome.wustl.edu 37 7 42006013 42006013 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 42006013 42006013 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2658 p.P886 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 30 0 0.00 26 2 7.14 GPRC6A 0 genome.wustl.edu 37 6 117128060 117128060 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 117128060 117128060 G T SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.808 p.Q270K 0.170 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 69 0 0.00 58 5 7.94 GPT 0 genome.wustl.edu 37 8 145732324 145732324 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 145732324 145732324 C T SNP GPT ENST00000394955 human ensembl 74_37 +1 known missense c.1432 p.R478W 0.991 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 49 0 0.00 51 4 7.27 GRIK4 0 genome.wustl.edu 37 11 120856618 120856618 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 11 120856618 120856618 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.2520 p.S840 0.922 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 18 0 0.00 9 9 50.00 GRIK5 0 genome.wustl.edu 37 19 42509909 42509909 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 42509909 42509909 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known silent c.2229 p.L743 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 53 0 0.00 18 21 53.85 GRM8 0 genome.wustl.edu 37 7 126544654 126544654 + Missense_Mutation SNP C C G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 126544654 126544654 C G SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.811 p.E271Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 74 0 0.00 64 4 5.88 GSDMD 0 genome.wustl.edu 37 8 144642814 144642814 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 144642814 144642814 G A SNP GSDMD ENST00000262580 human ensembl 74_37 +1 known missense c.452 p.R151H 0.015 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMD HGNC ENSG00000104518 12 0 0.00 7 6 46.15 GZMA 0 genome.wustl.edu 37 5 54405875 54405875 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 54405875 54405875 C T SNP GZMA ENST00000274306 human ensembl 74_37 +1 known silent c.654 p.C218 0.014 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 77 0 0.00 54 14 20.59 HDAC9 0 genome.wustl.edu 37 7 18674282 18674282 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 18674282 18674282 G T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.829 p.G277C 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 79 0 0.00 59 4 6.35 HECW1 0 genome.wustl.edu 37 7 43506045 43506045 + Splice_Site SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 43506045 43506045 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known splice_site c.2792-1 e13-1 1.000 - - - no_errors HECW1 HGNC ENSG00000002746 35 0 0.00 31 10 24.39 HNRNPK 0 genome.wustl.edu 37 9 86587852 86587852 + Nonsense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 86587852 86587852 G T SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known nonsense c.552 p.C184* 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 78 0 0.00 49 4 7.55 HNRNPU-AS1 0 genome.wustl.edu 37 1 245008478 245008478 + RNA SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 245008478 245008478 G T SNP HNRNPU-AS1 ENST00000475997 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors HNRNPU-AS1 HGNC ENSG00000188206 15 0 0.00 22 3 12.00 HS3ST5 0 genome.wustl.edu 37 6 114379236 114379236 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 114379236 114379236 C T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.226 p.A76T 0.996 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 26 0 0.00 17 7 29.17 HSPB2 0 genome.wustl.edu 37 11 111784266 111784266 + Nonsense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 11 111784266 111784266 G T SNP HSPB2 ENST00000304298 human ensembl 74_37 +1 known nonsense c.196 p.E66* 0.987 superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB2 Uniprot_gn ENSG00000170276 26 0 0.00 34 2 5.56 IQGAP2 0 genome.wustl.edu 37 5 75970313 75970313 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 75970313 75970313 C T SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known silent c.3306 p.N1102 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP 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 39 0 0.00 35 4 10.00 JPH2 0 genome.wustl.edu 37 20 42788954 42788954 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 20 42788954 42788954 G A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.473 p.P158L 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 24 0 0.00 27 9 25.00 KCNN4 0 genome.wustl.edu 37 19 44273604 44273604 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 44273604 44273604 C T SNP KCNN4 ENST00000262888 human ensembl 74_37 -1 known missense c.1039 p.A347T 0.999 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 24 0 0.00 22 2 8.33 KIAA0753 0 genome.wustl.edu 37 17 6538418 6538418 + Frame_Shift_Del DEL T T - TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 17 6538418 6538418 T 0 DEL KIAA0753 ENST00000361413 human ensembl 74_37 -1 known frame_shift_del c.6 p.P3fs 0.965 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 67 0 0.00 59 8 11.94 KIAA1217 0 genome.wustl.edu 37 10 24835061 24835061 + Silent SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 10 24835061 24835061 G T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.5640 p.P1880 0.945 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 65 0 0.00 38 2 5.00 KIAA1919 0 genome.wustl.edu 37 6 111583554 111583554 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 111583554 111583554 G A SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.122 p.R41H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 51 0 0.00 40 51 56.04 KRT23 0 genome.wustl.edu 37 17 39092743 39092743 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 17 39092743 39092743 G A SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.113 p.A38V 0.983 NULL pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 19 0 0.00 23 2 8.00 KRT79 0 genome.wustl.edu 37 12 53218041 53218041 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 12 53218041 53218041 G T SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.961 p.Q321K 1.000 pfam_IF pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 72 0 0.00 19 23 54.76 LINC00668 0 genome.wustl.edu 37 18 6928533 6928533 + RNA SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 18 6928533 6928533 G T SNP LINC00668 ENST00000579012 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors LINC00668 HGNC ENSG00000265933 25 0 0.00 9 3 25.00 LRP1B 0 genome.wustl.edu 37 2 141459770 141459770 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 141459770 141459770 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.6242 p.G2081V 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 12 0 0.00 13 3 18.75 LRRTM3 0 genome.wustl.edu 37 10 68857466 68857466 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 10 68857466 68857466 C T SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.1658 p.T553M 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 43 0 0.00 59 4 6.35 MAGEC2 0 genome.wustl.edu 37 X 141290892 141290892 + Silent SNP A A C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 X 141290892 141290892 A C SNP MAGEC2 ENST00000247452 human ensembl 74_37 -1 known silent c.882 p.P294 0.022 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 49 0 0.00 22 16 42.11 MAP4 0 genome.wustl.edu 37 3 47932648 47932648 + Missense_Mutation SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 3 47932648 47932648 A G SNP MAP4 ENST00000420772 human ensembl 74_37 -1 known missense c.1334 p.I445T 0.000 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 48 0 0.00 29 7 19.44 MGAT5 0 genome.wustl.edu 37 2 135206251 135206251 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 135206251 135206251 G A SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known missense c.2059 p.A687T 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 46 0 0.00 43 3 6.52 MPP5 0 genome.wustl.edu 37 14 67787832 67787832 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 14 67787832 67787832 G A SNP MPP5 ENST00000261681 human ensembl 74_37 +1 known silent c.1596 p.S532 0.964 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP5 HGNC ENSG00000072415 64 0 0.00 61 18 22.78 MROH2A 0 genome.wustl.edu 37 2 234698539 234698539 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 234698539 234698539 G A SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel silent c.450 p.L150 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 16 0 0.00 14 9 39.13 MRPL19 0 genome.wustl.edu 37 2 75882395 75882395 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 75882395 75882395 C A SNP MRPL19 ENST00000393909 human ensembl 74_37 +1 known missense c.863 p.A288E 0.982 NULL pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19 - no_errors MRPL19 HGNC ENSG00000115364 55 0 0.00 37 4 9.76 MRPS18A 0 genome.wustl.edu 37 6 43642962 43642962 + Silent SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 43642962 43642962 C A SNP MRPS18A ENST00000372133 human ensembl 74_37 -1 known silent c.423 p.P141 0.730 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18A HGNC ENSG00000096080 70 0 0.00 54 3 5.26 MST1L 0 genome.wustl.edu 37 1 17083485 17083485 + RNA SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 17083485 17083485 A G SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MST1L HGNC ENSG00000186715 11 0 0.00 6 2 25.00 MT1JP 0 genome.wustl.edu 37 16 56669815 56669815 + RNA SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 56669815 56669815 G A SNP MT1JP ENST00000564564 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MT1JP HGNC ENSG00000255986 36 0 0.00 19 11 36.67 MTMR6 0 genome.wustl.edu 37 13 25848273 25848273 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 13 25848273 25848273 G A SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.77 p.T26I 0.997 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 57 0 0.00 29 18 38.30 MTMR9 0 genome.wustl.edu 37 8 11177336 11177336 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 11177336 11177336 C A SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known missense c.1475 p.P492Q 1.000 NULL pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 71 0 0.00 69 6 8.00 MTUS1 0 genome.wustl.edu 37 8 17601255 17601255 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 17601255 17601255 G T SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.2145 p.D715E 0.004 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 38 0 0.00 40 4 9.09 MYO16 0 genome.wustl.edu 37 13 109540766 109540766 + Missense_Mutation SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 13 109540766 109540766 A G SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.1534 p.R512G 0.986 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 62 0 0.00 37 8 17.78 MYO7A 0 genome.wustl.edu 37 11 76893003 76893003 + Nonsense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 11 76893003 76893003 G T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known nonsense c.2911 p.E971* 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 55 0 0.00 44 4 8.33 NDUFAF7 0 genome.wustl.edu 37 2 37464913 37464913 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 37464913 37464913 G T SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known missense c.311 p.W104L 1.000 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 36 0 0.00 27 4 12.90 NFASC 0 genome.wustl.edu 37 1 204943394 204943394 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 204943394 204943394 G T SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.1367 p.G456V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 46 0 0.00 37 2 5.13 NPC1 0 genome.wustl.edu 37 18 21124978 21124978 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 18 21124978 21124978 C T SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.1893 p.M631I 1.000 pfam_Patched,pfscan_SSD,tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 26 0 0.00 36 5 12.20 NRG1 0 genome.wustl.edu 37 8 32621347 32621347 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 32621347 32621347 G A SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.1374 p.S458 0.985 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 32 0 0.00 38 5 11.36 NRG3 0 genome.wustl.edu 37 10 83635583 83635583 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 10 83635583 83635583 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.487 p.R163W 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 30 0 0.00 20 13 39.39 NTHL1 0 genome.wustl.edu 37 16 2093676 2093676 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 2093676 2093676 C T SNP NTHL1 ENST00000219066 human ensembl 74_37 -1 known missense c.601 p.G201S 0.010 pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 32 0 0.00 21 6 22.22 NXT1 0 genome.wustl.edu 37 20 23334730 23334730 + Nonsense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 20 23334730 23334730 G T SNP NXT1 ENST00000254998 human ensembl 74_37 +1 known nonsense c.52 p.E18* 0.998 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT1 HGNC ENSG00000132661 37 0 0.00 28 2 6.45 OR4N5 0 genome.wustl.edu 37 14 20611972 20611972 + Silent SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 14 20611972 20611972 G T SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known silent c.78 p.L26 0.568 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 106 0 0.00 69 23 25.00 OVCH1 0 genome.wustl.edu 37 12 29604280 29604280 + Missense_Mutation SNP G G C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 12 29604280 29604280 G C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.2753 p.A918G 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 32 0 0.00 18 4 18.18 PANK2 0 genome.wustl.edu 37 20 3869972 3869972 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 20 3869972 3869972 G A SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known silent c.225 p.S75 0.003 NULL pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 23 0 0.00 20 4 16.67 PAPPA2 0 genome.wustl.edu 37 1 176659433 176659433 + Missense_Mutation SNP A A C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 176659433 176659433 A C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2298 p.E766D 0.587 pfam_Peptidase_M43 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 38 0 0.00 33 13 28.26 PCDHA4 0 genome.wustl.edu 37 5 140188574 140188574 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 140188574 140188574 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1802 p.S601L 0.598 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 PCDHA4 HGNC ENSG00000204967 125 0 0.00 91 23 20.18 PCDHA9 0 genome.wustl.edu 37 5 140229376 140229376 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 140229376 140229376 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1296 p.S432 0.170 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 131 0 0.00 78 13 14.29 PCDHB15 0 genome.wustl.edu 37 5 140626811 140626811 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 140626811 140626811 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known silent c.1665 p.N555 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 153 0 0.00 94 37 28.24 PCDHGA11 0 genome.wustl.edu 37 5 140800930 140800930 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 140800930 140800930 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.136 p.V46M 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 52 0 0.00 42 3 6.67 PCDHGC5 0 genome.wustl.edu 37 5 140869747 140869747 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 140869747 140869747 C T SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.940 p.R314C 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 28 0 0.00 15 6 28.57 PDGFRA 0 genome.wustl.edu 37 4 55133523 55133523 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 4 55133523 55133523 C T SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.827 p.T276M 0.057 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 35 0 0.00 16 11 40.74 PHF2 0 genome.wustl.edu 37 9 96429413 96429413 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 96429413 96429413 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2239 p.P747S 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 74 0 0.00 78 5 6.02 POU6F2 0 genome.wustl.edu 37 7 39472858 39472858 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 39472858 39472858 G A SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known silent c.1209 p.L403 0.511 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 13 0 0.00 9 3 25.00 PPP6R2 0 genome.wustl.edu 37 22 50879368 50879368 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 22 50879368 50879368 C T SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.2513 p.A838V 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 86 0 0.00 53 3 5.36 PRAMEF2 0 genome.wustl.edu 37 1 12918902 12918902 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 12918902 12918902 C T SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.38 p.A13V 0.001 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 68 0 0.00 46 14 23.33 PROX1 0 genome.wustl.edu 37 1 214171287 214171287 + Missense_Mutation SNP C C G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 214171287 214171287 C G SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1409 p.S470C 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 19 0 0.00 22 3 12.00 PROX1 0 genome.wustl.edu 37 1 214171467 214171467 + Missense_Mutation SNP C C G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 214171467 214171467 C G SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1589 p.S530C 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 38 0 0.00 32 4 11.11 PXDNL 0 genome.wustl.edu 37 8 52321517 52321517 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 52321517 52321517 C A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2667 p.Q889H 0.998 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 22 0 0.00 9 11 55.00 RADIL 0 genome.wustl.edu 37 7 4874577 4874577 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 4874577 4874577 C T SNP RADIL ENST00000445392 human ensembl 74_37 -1 known missense c.1072 p.A358T 0.001 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 42 0 0.00 42 12 22.22 RANBP6 0 genome.wustl.edu 37 9 6012763 6012763 + Missense_Mutation SNP G G C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 6012763 6012763 G C SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.2845 p.R949G 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 37 0 0.00 32 2 5.88 RAVER2 0 genome.wustl.edu 37 1 65278495 65278495 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 65278495 65278495 G T SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.1755 p.L585F 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 77 0 0.00 74 4 5.13 RIMS2 0 genome.wustl.edu 37 8 105001531 105001531 + Splice_Site SNP A A T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 105001531 105001531 A T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known splice_site c.2928-2 e17-2 0.990 - - - no_errors RIMS2 HGNC ENSG00000176406 76 0 0.00 33 41 55.41 RPL26 0 genome.wustl.edu 37 17 8280945 8280945 + Silent SNP A A C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 17 8280945 8280945 A C SNP RPL26 ENST00000293842 human ensembl 74_37 -1 known silent c.375 p.S125 1.000 superfamily_Translation_prot_SH3-like pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26 HGNC ENSG00000161970 67 0 0.00 61 4 6.15 RTDR1 0 genome.wustl.edu 37 22 23406102 23406102 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 22 23406102 23406102 C T SNP RTDR1 ENST00000216036 human ensembl 74_37 -1 known missense c.631 p.A211T 0.633 superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 28 0 0.00 15 9 37.50 SAMD9 0 genome.wustl.edu 37 7 92732292 92732292 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 92732292 92732292 C A SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.3119 p.R1040L 0.026 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 33 0 0.00 47 3 6.00 SEC1P 0 genome.wustl.edu 37 19 49170681 49170681 + RNA SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 49170681 49170681 G T SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SEC1P HGNC ENSG00000232871 22 0 0.00 17 5 22.73 SEMG2 0 genome.wustl.edu 37 20 43851851 43851851 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 20 43851851 43851851 G A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known silent c.1578 p.K526 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 28 0 0.00 20 4 16.67 SERINC1 0 genome.wustl.edu 37 6 122768322 122768322 + Nonsense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 122768322 122768322 C T SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known nonsense c.939 p.W313* 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 46 0 0.00 25 4 13.79 SERPINA4 0 genome.wustl.edu 37 14 95033574 95033574 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 14 95033574 95033574 G A SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known missense c.917 p.R306Q 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 29 0 0.00 21 6 22.22 SIGLEC1 0 genome.wustl.edu 37 20 3677836 3677836 + Missense_Mutation SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 20 3677836 3677836 A G SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.2276 p.V759A 0.037 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 58 0 0.00 33 17 33.33 SIRT2 0 genome.wustl.edu 37 19 39370089 39370089 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 39370089 39370089 C T SNP SIRT2 ENST00000249396 human ensembl 74_37 -1 known silent c.999 p.E333 1.000 pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT2 HGNC ENSG00000068903 24 0 0.00 10 8 44.44 SLC22A12 0 genome.wustl.edu 37 11 64359361 64359361 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 11 64359361 64359361 C T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known silent c.333 p.A111 0.000 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 29 0 0.00 13 13 50.00 SLC30A1 0 genome.wustl.edu 37 1 211748878 211748878 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 211748878 211748878 G T SNP SLC30A1 ENST00000367001 human ensembl 74_37 -1 known missense c.1376 p.A459E 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 58 0 0.00 56 4 6.67 SLC9A5 0 genome.wustl.edu 37 16 67286504 67286504 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 67286504 67286504 C T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known silent c.247 p.L83 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 93 0 0.00 59 4 6.35 SLC9A7P1 0 genome.wustl.edu 37 12 98848935 98848935 + RNA SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 12 98848935 98848935 A G SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.980 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 53 0 0.00 45 4 8.16 SLFN14 0 genome.wustl.edu 37 17 33884643 33884643 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 17 33884643 33884643 G A SNP SLFN14 ENST00000415846 human ensembl 74_37 -1 known silent c.439 p.L147 0.994 NULL pfam_ATPase_AAA-4,superfamily_P-loop_NTPase - no_errors SLFN14 HGNC ENSG00000236320 35 0 0.00 36 12 25.00 SMG7 0 genome.wustl.edu 37 1 183520015 183520015 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 183520015 183520015 G A SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.3125 p.R1042K 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 29 0 0.00 27 4 12.90 SNTG1 0 genome.wustl.edu 37 8 51465644 51465644 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 8 51465644 51465644 G A SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.715 p.V239I 1.000 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 50 0 0.00 31 4 11.43 SPATA17 0 genome.wustl.edu 37 1 217856603 217856603 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 217856603 217856603 C A SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.295 p.Q99K 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 89 0 0.00 71 4 5.33 SRXN1 0 genome.wustl.edu 37 20 629463 629463 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 20 629463 629463 C T SNP SRXN1 ENST00000381962 human ensembl 74_37 -1 known silent c.309 p.A103 0.435 pfam_ParB/Sulfiredoxin_dom,superfamily_ParB/Sulfiredoxin_dom,smart_ParB/Sulfiredoxin_dom,pirsf_Sulfiredoxin pfam_ParB/Sulfiredoxin_dom,superfamily_ParB/Sulfiredoxin_dom,smart_ParB/Sulfiredoxin_dom,pirsf_Sulfiredoxin - no_errors SRXN1 HGNC ENSG00000271303 56 0 0.00 42 26 38.24 STON2 0 genome.wustl.edu 37 14 81743273 81743273 + Missense_Mutation SNP C C G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 14 81743273 81743273 C G SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.2382 p.R794S 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 56 0 0.00 39 15 27.78 STX1A 0 genome.wustl.edu 37 7 73118551 73118551 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 73118551 73118551 C A SNP STX1A ENST00000222812 human ensembl 74_37 -1 known missense c.393 p.M131I 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1A HGNC ENSG00000106089 38 0 0.00 41 5 10.87 STXBP1 0 genome.wustl.edu 37 9 130428493 130428493 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 9 130428493 130428493 G T SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.712 p.D238Y 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 32 0 0.00 32 3 8.57 TACR2 0 genome.wustl.edu 37 10 71166848 71166848 + Silent SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 10 71166848 71166848 G A SNP TACR2 ENST00000373306 human ensembl 74_37 -1 known silent c.930 p.L310 0.990 pfam_7TM_GPCR_olfarory/Srsx,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 47 0 0.00 51 3 5.56 TADA2B 0 genome.wustl.edu 37 4 7056529 7056529 + Silent SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 4 7056529 7056529 C T SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known silent c.1011 p.S337 0.906 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 16 0 0.00 20 3 13.04 TBC1D24 0 genome.wustl.edu 37 16 2548298 2548298 + Missense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 2548298 2548298 G T SNP TBC1D24 ENST00000293970 human ensembl 74_37 +1 known missense c.1043 p.R348M 1.000 smart_TLDc pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 42 0 0.00 23 3 11.54 TES 0 genome.wustl.edu 37 7 115890525 115890525 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 115890525 115890525 C A SNP TES ENST00000358204 human ensembl 74_37 +1 known missense c.677 p.S226Y 0.017 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 37 0 0.00 31 2 6.06 TP53 0 genome.wustl.edu 37 17 7576873 7576873 + Nonsense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 17 7576873 7576873 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.973 p.G325* 1.000 pfam_p53_tetrameristn,superfamily_p53_tetrameristn 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 63 0 0.00 35 15 30.00 TRIM45 0 genome.wustl.edu 37 1 117661118 117661118 + Nonsense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 117661118 117661118 C A SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known nonsense c.760 p.E254* 0.814 smart_Bbox_C pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 46 0 0.00 36 2 5.26 TUBA8 0 genome.wustl.edu 37 22 18613616 18613616 + Missense_Mutation SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 22 18613616 18613616 A G SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.1063 p.I355V 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 36 0 0.00 38 6 13.64 TULP1 0 genome.wustl.edu 37 6 35477490 35477490 + Silent SNP T T C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 6 35477490 35477490 T C SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known silent c.639 p.P213 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 58 0 0.00 26 24 48.00 UGT3A1 0 genome.wustl.edu 37 5 35954308 35954308 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 5 35954308 35954308 G A SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.1568 p.T523I 0.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 37 0 0.00 23 8 25.81 UNC93B1 0 genome.wustl.edu 37 11 67759196 67759196 + Missense_Mutation SNP A A C TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 11 67759196 67759196 A C SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.1612 p.Y538D 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 18 0 0.00 16 4 20.00 UNKL 0 genome.wustl.edu 37 16 1453325 1453325 + Nonsense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 16 1453325 1453325 G A SNP UNKL ENST00000382757 human ensembl 74_37 -1 known nonsense c.262 p.R88* 0.996 NULL NULL - no_errors UNKL HGNC ENSG00000059145 57 0 0.00 30 16 34.78 UPP1 0 genome.wustl.edu 37 7 48146616 48146616 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 7 48146616 48146616 G A SNP UPP1 ENST00000331803 human ensembl 74_37 +1 known missense c.583 p.A195T 0.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP1 HGNC ENSG00000183696 26 0 0.00 35 4 10.26 VN1R1 0 genome.wustl.edu 37 19 57967350 57967350 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 57967350 57967350 C A SNP VN1R1 ENST00000321039 human ensembl 74_37 -1 known missense c.505 p.D169Y 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 42 0 0.00 41 3 6.67 VPS72 0 genome.wustl.edu 37 1 151156966 151156966 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 151156966 151156966 C T SNP VPS72 ENST00000368892 human ensembl 74_37 -1 known missense c.389 p.R130Q 1.000 pfam_YL1 pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 21 0 0.00 13 2 13.33 WASH3P 0 genome.wustl.edu 37 15 102506815 102506816 + RNA DEL CC CC - TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 15 102506815 102506816 CC 0 DEL WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 10 0 0.00 5 3 37.50 WDFY4 0 genome.wustl.edu 37 10 50083134 50083134 + Nonsense_Mutation SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 10 50083134 50083134 G T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known nonsense c.6949 p.E2317* 0.922 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 98 0 0.00 73 12 14.12 WDR64 0 genome.wustl.edu 37 1 241946598 241946598 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 1 241946598 241946598 C A SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.2590 p.R864S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 58 0 0.00 52 4 7.14 ZDBF2 0 genome.wustl.edu 37 2 207175899 207175899 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 2 207175899 207175899 G A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.6647 p.R2216Q 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 30 0 0.00 26 12 31.58 ZNF468 0 genome.wustl.edu 37 19 53344548 53344548 + Silent SNP A A G TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 53344548 53344548 A G SNP ZNF468 ENST00000595646 human ensembl 74_37 -1 known silent c.999 p.D333 0.826 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 ZNF468 HGNC ENSG00000204604 30 0 0.00 37 7 15.91 ZNF501 0 genome.wustl.edu 37 3 44776031 44776031 + Missense_Mutation SNP C C A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 3 44776031 44776031 C A SNP ZNF501 ENST00000396048 human ensembl 74_37 +1 known missense c.118 p.H40N 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 34 0 0.00 14 3 17.65 ZNF587 0 genome.wustl.edu 37 19 58369950 58369950 + Nonsense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 58369950 58369950 G A SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known nonsense c.170 p.W57* 0.816 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF587 HGNC ENSG00000198466 61 0 0.00 69 10 12.66 ZNF613 0 genome.wustl.edu 37 19 52448197 52448197 + Missense_Mutation SNP G G A TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 52448197 52448197 G A SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.1061 p.R354H 0.895 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 ZNF613 HGNC ENSG00000176024 44 0 0.00 27 3 10.00 ZNF652 0 genome.wustl.edu 37 17 47376270 47376270 + Silent SNP G G T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 17 47376270 47376270 G T SNP ZNF652 ENST00000362063 human ensembl 74_37 -1 known silent c.1326 p.I442 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 32 0 0.00 32 4 11.11 ZNF835 0 genome.wustl.edu 37 19 57175612 57175612 + Missense_Mutation SNP C C T TCGA-R6-A6DQ-01B-11D-A31U-09 TCGA-R6-A6DQ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb5953cd-9098-40e7-9251-5f1cfdc44aa9 5019f200-1913-4d8e-9d70-89c985ae55e2 19 57175612 57175612 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.955 p.A319T 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 31 0 0.00 28 7 18.42