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 ABCA1 0 genome.wustl.edu 37 9 107555071 107555071 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 107555071 107555071 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.5753 p.T1918M 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 64 0 0.00 40 8 16.67 ABL1 0 genome.wustl.edu 37 9 133738375 133738375 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 133738375 133738375 G A SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known missense c.832 p.G278S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 tier1 - - 51 0 0.00 26 5 16.13 ACD 0 genome.wustl.edu 37 16 67692970 67692970 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 16 67692970 67692970 G A SNP ACD ENST00000393919 human ensembl 74_37 -1 known missense c.764 p.S255F 1.000 NULL NULL - no_errors ACD HGNC ENSG00000102977 tier1 - - 32 0 0.00 19 16 45.71 ACO1 0 genome.wustl.edu 37 9 32434696 32434696 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 32434696 32434696 G T SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known missense c.2096 p.R699I 1.000 pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 tier1 - - 47 0 0.00 86 5 5.49 ACOX1 0 genome.wustl.edu 37 17 73944459 73944459 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 73944459 73944459 G T SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known missense c.1808 p.A603D 1.000 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 tier1 - - 63 0 0.00 42 4 8.70 ACTG2 0 genome.wustl.edu 37 2 74128470 74128470 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 74128470 74128470 G T SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.32 p.C11F 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 tier1 - - 50 0 0.00 40 4 9.09 ACTL9 0 genome.wustl.edu 37 19 8808271 8808271 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 8808271 8808271 C T SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.781 p.V261M 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 84 0 0.00 45 3 6.25 ADAM17 0 genome.wustl.edu 37 2 9676030 9676030 + Missense_Mutation SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 9676030 9676030 A G SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.383 p.L128P 0.990 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 - - 42 0 0.00 24 19 44.19 ADAMTS1 0 genome.wustl.edu 37 21 28212680 28212680 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 21 28212680 28212680 G A SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.1580 p.P527L 1.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 tier1 - - 71 0 0.00 13 13 50.00 ADAMTS9 0 genome.wustl.edu 37 3 64532485 64532485 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 64532485 64532485 G T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known nonsense c.5013 p.Y1671* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 56 0 0.00 31 4 11.43 ADCK5 0 genome.wustl.edu 37 8 145603116 145603116 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 145603116 145603116 G T SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known missense c.53 p.R18M 0.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 tier1 - - 41 0 0.00 14 3 17.65 ADGB 0 genome.wustl.edu 37 6 146956525 146956525 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 146956525 146956525 G T SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.89 p.G30V 0.080 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 78 0 0.00 64 4 5.88 ADGB 0 genome.wustl.edu 37 6 147047221 147047221 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 147047221 147047221 G T SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.2240 p.R747I 0.994 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 54 0 0.00 46 4 7.84 ADSSL1 0 genome.wustl.edu 37 14 105212613 105212616 + Frame_Shift_Del DEL AACG AACG - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 AACG AACG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 105212613 105212616 AACG - DEL ADSSL1 ENST00000332972 human ensembl 74_37 +1 known frame_shift_del c.1341_1344 p.E447fs 0.800:0.988:0.991:0.474 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 tier1 21 0 0.00 3 2 40.00 AKAP10 0 genome.wustl.edu 37 17 19866239 19866239 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 19866239 19866239 G T SNP AKAP10 ENST00000572341 human ensembl 74_37 -1 known nonsense c.177 p.C59* 1.000 NULL NULL - no_errors AKAP10 HGNC ENSG00000108599 29 0 0.00 32 4 11.11 AKAP8L 0 genome.wustl.edu 37 19 15514370 15514370 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 15514370 15514370 G T SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known missense c.278 p.S93Y 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 tier1 - - 68 0 0.00 60 4 6.25 ALDH1L2 0 genome.wustl.edu 37 12 105425678 105425678 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 105425678 105425678 G T SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.2279 p.P760Q 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 70 0 0.00 38 4 9.52 ALOX12B 0 genome.wustl.edu 37 17 7990724 7990724 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 7990724 7990724 C T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.37 p.D13N 0.007 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 90 0 0.00 34 2 5.56 ALPP 0 genome.wustl.edu 37 2 233245019 233245019 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 233245019 233245019 G T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.781 p.A261S 0.311 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 tier1 - - 95 0 0.00 81 5 5.81 ALS2CR11 0 genome.wustl.edu 37 2 202357193 202357193 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 202357193 202357193 C T SNP ALS2CR11 ENST00000439140 human ensembl 74_37 -1 novel missense c.3871 p.E1291K 0.012 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 - - 34 0 0.00 28 13 31.71 ANK2 0 genome.wustl.edu 37 4 114161692 114161692 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 114161692 114161692 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.745 p.A249S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 ANK2 HGNC ENSG00000145362 55 0 0.00 42 3 6.67 ANKEF1 0 genome.wustl.edu 37 20 10036201 10036201 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 10036201 10036201 C T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known missense c.2224 p.R742W 0.887 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 tier1 rs139719301 - 55 0 0.00 62 8 11.43 ANKHD1 0 genome.wustl.edu 37 5 139918669 139918669 + Splice_Site SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 139918669 139918669 G T SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known splice_site c.7569+1 e33+1 1.000 - - - no_errors ANKHD1 HGNC ENSG00000131503 tier1 - - 71 0 0.00 51 4 7.27 ANKLE1 0 genome.wustl.edu 37 19 17397483 17397483 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 17397483 17397483 G T SNP ANKLE1 ENST00000598347 human ensembl 74_37 +1 putative missense c.1753 p.V585L 0.927 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 tier1 - - 11 0 0.00 9 4 30.77 ANKLE2 0 genome.wustl.edu 37 12 133306306 133306306 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 133306306 133306306 G T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.2442 p.L814 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 64 0 0.00 44 3 6.38 AP5M1 0 genome.wustl.edu 37 14 57749690 57749690 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 57749690 57749690 G T SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known missense c.1127 p.G376V 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 20 0 0.00 30 3 9.09 APPL1 0 genome.wustl.edu 37 3 57281447 57281447 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 57281447 57281447 G T SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known nonsense c.646 p.E216* 1.000 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 tier1 - - 52 0 0.00 36 4 10.00 ARHGAP10 0 genome.wustl.edu 37 4 148796191 148796191 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 148796191 148796191 G T SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known missense c.722 p.G241V 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 26 0 0.00 25 3 10.71 ARID1B 0 genome.wustl.edu 37 6 157528490 157528490 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 157528490 157528490 C A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.6335 p.P2112H 1.000 pfam_DUF3518 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 ARID1B HGNC ENSG00000049618 tier1 - - 48 0 0.00 24 8 25.00 ARID4B 0 genome.wustl.edu 37 1 235331925 235331925 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 235331925 235331925 G T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.3854 p.S1285Y 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 tier1 - - 33 0 0.00 47 4 7.84 ARMCX4 0 genome.wustl.edu 37 X 100749023 100749023 + Missense_Mutation SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 X 100749023 100749023 A G SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.5447 p.E1816G 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 28 0 0.00 12 3 20.00 ARSG 0 genome.wustl.edu 37 17 66303639 66303639 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 66303639 66303639 G T SNP ARSG ENST00000448504 human ensembl 74_37 +1 known missense c.5 p.G2V 0.995 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 tier1 - - 96 0 0.00 57 4 6.56 ASAP1 0 genome.wustl.edu 37 8 131191524 131191524 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 131191524 131191524 G T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known nonsense c.732 p.Y244* 0.787 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 63 0 0.00 54 3 5.26 ASAP3 0 genome.wustl.edu 37 1 23756371 23756371 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 23756371 23756371 G T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.2690 p.S897Y 0.996 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 27 0 0.00 17 2 10.53 ASTN2 0 genome.wustl.edu 37 9 119204756 119204756 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 119204756 119204756 G T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.3574 p.L1192M 0.940 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 62 0 0.00 53 3 5.36 ATG16L2 0 genome.wustl.edu 37 11 72533895 72533895 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 72533895 72533895 G T SNP ATG16L2 ENST00000321297 human ensembl 74_37 +1 known missense c.713 p.G238V 0.134 NULL pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L2 HGNC ENSG00000168010 tier1 - - 113 0 0.00 98 6 5.77 ATP2B4 0 genome.wustl.edu 37 1 203677035 203677035 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 203677035 203677035 G T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known nonsense c.1360 p.E454* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,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 tier1 - - 49 0 0.00 64 4 5.88 ATP8B2 0 genome.wustl.edu 37 1 154307008 154307008 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 154307008 154307008 G A SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.877 p.G293S 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 tier1 - - 32 0 0.00 23 4 14.81 ATRNL1 0 genome.wustl.edu 37 10 117226743 117226743 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 117226743 117226743 G T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known silent c.3477 p.T1159 0.018 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 91 0 0.00 62 8 11.43 BCL7B 0 genome.wustl.edu 37 7 72951642 72951642 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 72951642 72951642 C T SNP BCL7B ENST00000223368 human ensembl 74_37 -1 known missense c.595 p.A199T 0.569 NULL pfam_BCL7 - no_errors BCL7B HGNC ENSG00000106635 tier1 - - 35 0 0.00 30 7 18.92 BCR 0 genome.wustl.edu 37 22 23652503 23652503 + RNA SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 22 23652503 23652503 T C SNP BCR ENST00000419722 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 rs201201470 - 61 0 0.00 17 4 19.05 BIRC7 0 genome.wustl.edu 37 20 61870941 61870941 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 61870941 61870941 G T SNP BIRC7 ENST00000217169 human ensembl 74_37 +1 known missense c.881 p.R294L 1.000 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 29 0 0.00 30 2 6.25 BLVRA 0 genome.wustl.edu 37 7 43840087 43840087 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 43840087 43840087 G T SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known missense c.376 p.V126F 0.709 pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 tier1 - - 50 0 0.00 59 4 6.35 BRAP 0 genome.wustl.edu 37 12 112120998 112120998 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 112120998 112120998 G T SNP BRAP ENST00000419234 human ensembl 74_37 -1 known missense c.196 p.R66S 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 tier1 rs200187507 - 76 0 0.00 48 4 7.69 BRI3 0 genome.wustl.edu 37 7 97911717 97911717 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 97911717 97911717 G T SNP BRI3 ENST00000297290 human ensembl 74_37 +1 known missense c.197 p.R66L 0.974 pfam_Brain_I3 pfam_Brain_I3 - no_errors BRI3 HGNC ENSG00000164713 tier1 - - 74 0 0.00 71 4 5.33 BRWD3 0 genome.wustl.edu 37 X 79936909 79936909 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 X 79936909 79936909 G T SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known silent c.4585 p.R1529 0.271 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 53 0 0.00 45 4 8.16 BTN3A1 0 genome.wustl.edu 37 6 26408018 26408018 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 26408018 26408018 G T SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known nonsense c.553 p.E185* 0.001 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 tier1 - - 89 0 0.00 66 6 8.33 C11orf49 0 genome.wustl.edu 37 11 47179366 47179366 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 47179366 47179366 G T SNP C11orf49 ENST00000378615 human ensembl 74_37 +1 known missense c.650 p.C217F 1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 tier1 - - 76 0 0.00 54 4 6.90 C11orf63 0 genome.wustl.edu 37 11 122756889 122756889 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 122756889 122756889 G T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.332 p.G111V 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 tier1 - - 34 0 0.00 30 6 16.67 C12orf55 0 genome.wustl.edu 37 12 96915645 96915645 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 96915645 96915645 G T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.953 p.R318L 1.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 44 0 0.00 29 3 9.38 C1orf131 0 genome.wustl.edu 37 1 231374738 231374738 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 231374738 231374738 G T SNP C1orf131 ENST00000366649 human ensembl 74_37 -1 known silent c.315 p.T105 0.000 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 tier1 - - 43 0 0.00 41 4 8.89 C1orf140 0 genome.wustl.edu 37 1 221509313 221509313 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 221509313 221509313 G T SNP C1orf140 ENST00000439004 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-421L10.1 Clone_based_vega_gene ENSG00000234754 tier1 - - 87 0 0.00 98 6 5.77 C2CD5 0 genome.wustl.edu 37 12 22659647 22659647 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 22659647 22659647 G T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known missense c.1145 p.P382H 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 tier1 - - 28 0 0.00 16 3 15.79 C2orf71 0 genome.wustl.edu 37 2 29295619 29295619 + Missense_Mutation SNP A A C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 29295619 29295619 A C SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.1509 p.C503W 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 129 0 0.00 72 17 19.10 C3orf14 0 genome.wustl.edu 37 3 62317051 62317051 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 62317051 62317051 C T SNP C3orf14 ENST00000232519 human ensembl 74_37 +1 known missense c.229 p.R77W 0.011 NULL NULL - no_errors C3orf14 HGNC ENSG00000114405 47 0 0.00 37 2 5.13 C4BPB 0 genome.wustl.edu 37 1 207263802 207263802 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 207263802 207263802 G T SNP C4BPB ENST00000243611 human ensembl 74_37 +1 known missense c.208 p.D70Y 0.025 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPB HGNC ENSG00000123843 tier1 - - 76 0 0.00 70 5 6.67 C5orf42 0 genome.wustl.edu 37 5 37183457 37183457 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 37183457 37183457 C T SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.4826 p.S1609N 0.896 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 68 0 0.00 44 27 38.03 C9orf50 0 genome.wustl.edu 37 9 132381848 132381848 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 132381848 132381848 G T SNP C9orf50 ENST00000372478 human ensembl 74_37 -1 known missense c.667 p.P223T 0.000 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 42 0 0.00 35 2 5.41 CAMSAP2 0 genome.wustl.edu 37 1 200824002 200824002 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 200824002 200824002 G T SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.3914 p.G1305V 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 tier1 - - 68 0 0.00 55 4 6.78 CANT1 0 genome.wustl.edu 37 17 76988788 76988788 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 76988788 76988788 G A SNP CANT1 ENST00000592228 human ensembl 74_37 -1 known missense c.703 p.R235W 0.000 NULL pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 tier1 - - 20 0 0.00 1 7 87.50 CASQ2 0 genome.wustl.edu 37 1 116280873 116280873 + Silent SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 116280873 116280873 A G SNP CASQ2 ENST00000261448 human ensembl 74_37 -1 known silent c.504 p.I168 0.876 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 tier1 - - 72 0 0.00 27 14 34.15 CCDC124 0 genome.wustl.edu 37 19 18053577 18053577 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 18053577 18053577 C T SNP CCDC124 ENST00000445755 human ensembl 74_37 +1 known missense c.272 p.T91M 0.000 NULL pfam_DUF1014,superfamily_HMG_box_dom - no_errors CCDC124 HGNC ENSG00000007080 tier1 - - 44 0 0.00 9 11 55.00 CCDC141 0 genome.wustl.edu 37 2 179698983 179698983 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 179698983 179698983 G T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.4510 p.L1504M 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 76 0 0.00 63 4 5.97 CD109 0 genome.wustl.edu 37 6 74497118 74497118 + Silent SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 74497118 74497118 A G SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.2499 p.T833 0.911 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 46 0 0.00 28 4 12.50 CD1B 0 genome.wustl.edu 37 1 158301174 158301174 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 158301174 158301174 G T SNP CD1B ENST00000368168 human ensembl 74_37 -1 known missense c.40 p.P14T 0.001 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 tier1 - - 60 0 0.00 41 4 8.89 CD300C 0 genome.wustl.edu 37 17 72541893 72541893 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 72541893 72541893 C T SNP CD300C ENST00000330793 human ensembl 74_37 -1 known missense c.29 p.R10Q 0.178 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300C HGNC ENSG00000167850 tier1 - - 17 0 0.00 8 6 42.86 CDC42BPA 0 genome.wustl.edu 37 1 227288919 227288919 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 227288919 227288919 G T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.2023 p.P675T 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 61 0 0.00 54 6 10.00 CDH10 0 genome.wustl.edu 37 5 24511519 24511519 + Nonsense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 24511519 24511519 G A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known nonsense c.919 p.R307* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 92 0 0.00 34 29 46.03 CDH2 0 genome.wustl.edu 37 18 25727694 25727694 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 18 25727694 25727694 C T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.115 p.D39N 1.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 46 0 0.00 19 9 32.14 CDK3 0 genome.wustl.edu 37 17 73998125 73998125 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 73998125 73998125 G T SNP CDK3 ENST00000425876 human ensembl 74_37 +1 known nonsense c.217 p.E73* 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK3 HGNC ENSG00000250506 60 0 0.00 17 2 10.53 CECR1 0 genome.wustl.edu 37 22 17688043 17688043 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 22 17688043 17688043 G T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.460 p.R154S 0.000 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 tier1 - - 136 0 0.00 70 4 5.41 CELSR2 0 genome.wustl.edu 37 1 109808369 109808369 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 109808369 109808369 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.5740 p.R1914W 0.999 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 39 0 0.00 19 2 9.52 CEP112 0 genome.wustl.edu 37 17 64171309 64171309 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 64171309 64171309 G T SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known missense c.323 p.P108Q 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 tier1 - - 42 0 0.00 43 5 10.42 CES3 0 genome.wustl.edu 37 16 67006779 67006779 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 16 67006779 67006779 C T SNP CES3 ENST00000303334 human ensembl 74_37 +1 known missense c.1543 p.P515S 0.200 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 tier1 - - 26 0 0.00 21 5 19.23 CETN1 0 genome.wustl.edu 37 18 580532 580532 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 18 580532 580532 G T SNP CETN1 ENST00000327228 human ensembl 74_37 +1 known missense c.124 p.V42L 0.991 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN1 HGNC ENSG00000177143 47 0 0.00 24 3 11.11 CHD2 0 genome.wustl.edu 37 15 93540315 93540316 + Frame_Shift_Ins INS - - A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 93540315 93540316 - A INS CHD2 ENST00000557381 human ensembl 74_37 +1 putative frame_shift_ins c.3724_3725 p.Y1246fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 29 0 0.00 27 3 10.00 CHD6 0 genome.wustl.edu 37 20 40117239 40117239 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 40117239 40117239 G T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.1686 p.N562K 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 36 0 0.00 69 4 5.48 CHD7 0 genome.wustl.edu 37 8 61743014 61743014 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 61743014 61743014 G T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.3656 p.R1219L 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 39 0 0.00 22 3 12.00 CHRND 0 genome.wustl.edu 37 2 233390934 233390934 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 233390934 233390934 G T SNP CHRND ENST00000258385 human ensembl 74_37 +1 known silent c.9 p.G3 0.346 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 41 0 0.00 27 5 15.62 CHST14 0 genome.wustl.edu 37 15 40764412 40764412 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 40764412 40764412 G A SNP CHST14 ENST00000306243 human ensembl 74_37 +1 known missense c.1000 p.E334K 0.997 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST14 HGNC ENSG00000169105 tier1 - - 105 0 0.00 22 17 43.59 CHST4 0 genome.wustl.edu 37 16 71571171 71571171 + Silent SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 16 71571171 71571171 C T SNP CHST4 ENST00000338482 human ensembl 74_37 +1 known silent c.591 p.N197 0.999 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 tier1 - - 51 0 0.00 26 8 23.53 CISD3 0 genome.wustl.edu 37 17 36890780 36890781 + RNA INS - - AAA TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 36890780 36890781 - AAA INS CISD3 ENST00000578573 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CISD3 HGNC ENSG00000230055 tier1 11 0 0.00 10 2 16.67 CLCA2 0 genome.wustl.edu 37 1 86913341 86913341 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 86913341 86913341 G T SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.1864 p.V622L 0.024 pfam_DUF1973,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 tier1 - - 77 0 0.00 60 4 6.25 CNTNAP1 0 genome.wustl.edu 37 17 40849294 40849294 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 40849294 40849294 G T SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known silent c.3477 p.V1159 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 43 0 0.00 39 3 7.14 COBL 0 genome.wustl.edu 37 7 51096450 51096450 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 51096450 51096450 G T SNP COBL ENST00000395542 human ensembl 74_37 -1 known silent c.2589 p.G863 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 25 0 0.00 44 4 8.33 COL3A1 0 genome.wustl.edu 37 2 189860905 189860905 + Splice_Site SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 189860905 189860905 G A SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known splice_site c.1662+1 e23+1 0.995 - - - no_errors COL3A1 HGNC ENSG00000168542 tier1 - - 44 0 0.00 38 8 17.39 COL4A4 0 genome.wustl.edu 37 2 227973577 227973577 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 227973577 227973577 G T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.665 p.P222Q 0.181 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 tier1 - - 68 0 0.00 52 4 7.14 COL4A4 0 genome.wustl.edu 37 2 227983419 227983419 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 227983419 227983419 G T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known nonsense c.431 p.S144* 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 tier1 - - 69 0 0.00 62 5 7.46 CORO2B 0 genome.wustl.edu 37 15 69011786 69011786 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 69011786 69011786 G T SNP CORO2B ENST00000566799 human ensembl 74_37 +1 known missense c.1206 p.K402N 1.000 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 tier1 - - 47 0 0.00 22 3 12.00 CPNE4 0 genome.wustl.edu 37 3 131274342 131274342 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 131274342 131274342 G A SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.1169 p.T390M 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 24 0 0.00 17 2 10.53 CPNE5 0 genome.wustl.edu 37 6 36711498 36711498 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 36711498 36711498 G T SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known silent c.1531 p.R511 1.000 smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 tier1 - - 77 0 0.00 36 4 10.00 CRIM1 0 genome.wustl.edu 37 2 36704130 36704130 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 36704130 36704130 G T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.1090 p.A364S 0.979 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 tier1 - - 72 0 0.00 43 4 8.51 CRISPLD1 0 genome.wustl.edu 37 8 75924771 75924771 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 75924771 75924771 G T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.362 p.G121V 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 41 0 0.00 17 14 45.16 CSF3R 0 genome.wustl.edu 37 1 36934836 36934836 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 36934836 36934836 G T SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known silent c.1497 p.L499 0.996 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 tier1 - - 51 0 0.00 40 4 9.09 CTAGE5 0 genome.wustl.edu 37 14 39790261 39790261 + Splice_Site SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 39790261 39790261 G T SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known splice_site c.1687+1 e19+1 1.000 - - - no_errors CTAGE5 HGNC ENSG00000150527 56 0 0.00 48 4 7.69 CTNNA2 0 genome.wustl.edu 37 2 80816505 80816505 + Missense_Mutation SNP G G C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 80816505 80816505 G C SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2186 p.S729T 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 62 0 0.00 27 11 28.95 CTNND1 0 genome.wustl.edu 37 11 57564452 57564452 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 57564452 57564452 G T SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.944 p.R315L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 72 0 0.00 27 4 12.90 CTSF 0 genome.wustl.edu 37 11 66335085 66335085 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 66335085 66335085 G T SNP CTSF ENST00000310325 human ensembl 74_37 -1 known silent c.361 p.R121 0.941 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 tier1 - - 31 0 0.00 53 4 7.02 CXorf36 0 genome.wustl.edu 37 X 45060031 45060031 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 X 45060031 45060031 G T SNP CXorf36 ENST00000398000 human ensembl 74_37 -1 known missense c.41 p.P14H 0.000 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 tier1 - - 23 0 0.00 13 3 18.75 CYP2U1 0 genome.wustl.edu 37 4 108870547 108870547 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 108870547 108870547 C T SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known missense c.1330 p.P444S 0.813 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 tier1 - - 41 0 0.00 34 8 19.05 CYTH4 0 genome.wustl.edu 37 22 37699363 37699363 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 22 37699363 37699363 G T SNP CYTH4 ENST00000248901 human ensembl 74_37 +1 known missense c.616 p.D206Y 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH4 HGNC ENSG00000100055 tier1 - - 127 0 0.00 74 5 6.33 DCAF6 0 genome.wustl.edu 37 1 168014359 168014359 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 168014359 168014359 C T SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.2152 p.H718Y 0.133 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 tier1 - - 43 0 0.00 11 22 66.67 DCHS2 0 genome.wustl.edu 37 4 155156925 155156925 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 155156925 155156925 G T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.7514 p.A2505D 1.000 superfamily_Cadherin-like,smart_Cadherin,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 tier1 - - 55 0 0.00 61 4 6.15 DDX1 0 genome.wustl.edu 37 2 15735282 15735282 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 15735282 15735282 G T SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.30 p.M10I 1.000 superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 32 0 0.00 20 3 13.04 DDX39B 0 genome.wustl.edu 37 6 31498628 31498628 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 31498628 31498628 G T SNP DDX39B ENST00000417556 human ensembl 74_37 -1 known missense c.1243 p.L415I 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39B HGNC ENSG00000198563 50 0 0.00 39 3 7.14 DDX58 0 genome.wustl.edu 37 9 32467918 32467918 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 32467918 32467918 G T SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.2027 p.P676Q 0.999 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 tier1 - - 69 0 0.00 93 5 5.10 DENND2C 0 genome.wustl.edu 37 1 115167822 115167822 + Missense_Mutation SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 115167822 115167822 T C SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.784 p.K262E 0.962 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 tier1 - - 61 0 0.00 33 7 17.50 DLC1 0 genome.wustl.edu 37 8 12960301 12960301 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 12960301 12960301 G T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.1564 p.R522 0.878 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 103 0 0.00 65 4 5.80 DLC1 0 genome.wustl.edu 37 8 12947852 12947852 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 12947852 12947852 C A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.3983 p.C1328F 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 18 0 0.00 15 2 11.76 DLK1 0 genome.wustl.edu 37 14 101200740 101200740 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 101200740 101200740 G T SNP DLK1 ENST00000341267 human ensembl 74_37 +1 known missense c.659 p.G220V 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 tier1 - - 83 0 0.00 32 4 11.11 DNAH11 0 genome.wustl.edu 37 7 21655910 21655910 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 21655910 21655910 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.4095 p.K1365N 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 48 0 0.00 58 4 6.45 DNAH5 0 genome.wustl.edu 37 5 13769168 13769168 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 13769168 13769168 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.9798 p.A3266 0.994 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 45 0 0.00 47 4 7.84 DNAJC7 0 genome.wustl.edu 37 17 40148376 40148376 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 40148376 40148376 G T SNP DNAJC7 ENST00000457167 human ensembl 74_37 -1 known missense c.358 p.Q120K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC7 HGNC ENSG00000168259 tier1 - - 68 0 0.00 47 5 9.62 DNPEP 0 genome.wustl.edu 37 2 220238951 220238951 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 220238951 220238951 G T SNP DNPEP ENST00000490371 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNPEP HGNC ENSG00000123992 tier1 - - 54 0 0.00 34 4 10.53 DPP9 0 genome.wustl.edu 37 19 4700277 4700277 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 4700277 4700277 G T SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.1025 p.P342H 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 tier1 - - 30 0 0.00 19 4 17.39 E2F2 0 genome.wustl.edu 37 1 23842891 23842891 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 23842891 23842891 G T SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known missense c.981 p.S327R 0.000 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 tier1 - - 55 0 0.00 49 4 7.55 EGR2 0 genome.wustl.edu 37 10 64575781 64575781 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 64575781 64575781 G T SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.9 p.T3 0.999 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 tier1 - - 50 0 0.00 39 4 9.30 EIF2AK4 0 genome.wustl.edu 37 15 40278066 40278066 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 40278066 40278066 G T SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.2380 p.A794S 0.998 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 115 0 0.00 75 4 5.06 EIF4EBP2 0 genome.wustl.edu 37 10 72179687 72179687 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 72179687 72179687 G T SNP EIF4EBP2 ENST00000373218 human ensembl 74_37 +1 known missense c.163 p.D55Y 1.000 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP2 HGNC ENSG00000148730 tier1 - - 25 0 0.00 21 4 16.00 ELF3 0 genome.wustl.edu 37 1 201981121 201981121 + Nonsense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 201981121 201981121 G A SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known nonsense c.200 p.W67* 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 tier1 - - 42 0 0.00 13 26 66.67 EMC1 0 genome.wustl.edu 37 1 19561711 19561711 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 19561711 19561711 G T SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.1345 p.L449M 0.646 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 tier1 - - 40 0 0.00 36 4 10.00 EN1 0 genome.wustl.edu 37 2 119600699 119600699 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 119600699 119600699 G T SNP EN1 ENST00000295206 human ensembl 74_37 -1 known silent c.994 p.R332 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 69 0 0.00 36 2 5.26 ENSG00000212045 0 genome.wustl.edu 37 4 29751861 29751861 + RNA DEL A A - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 29751861 29751861 A - DEL ENSG00000212045 ENST00000390756 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors AC109351.1 Clone_based_ensembl_gene ENSG00000212045 tier1 41 0 0.00 25 4 13.79 ENSG00000215398 0 genome.wustl.edu 37 14 19110364 19110364 + RNA SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 19110364 19110364 C T SNP ENSG00000215398 ENST00000553170 human ensembl 74_37 +1 known rna NULL NULL 0.850 - - - no_errors RP11-754I20.1 Clone_based_vega_gene ENSG00000215398 tier1 - - 372 0 0.00 161 38 19.10 ENSG00000221220 0 genome.wustl.edu 37 20 17823333 17823333 + RNA SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 17823333 17823333 C T SNP ENSG00000221220 ENST00000408293 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL035045.1 Clone_based_ensembl_gene ENSG00000221220 tier1 - - 90 0 0.00 21 30 58.82 ENSG00000221810 0 genome.wustl.edu 37 5 92053146 92053147 + RNA DEL TG TG - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 92053146 92053147 TG - DEL ENSG00000221810 ENST00000408883 human ensembl 74_37 -1 novel rna NULL NULL 0.002:0.000 - - - no_errors AC026781.1 Clone_based_ensembl_gene ENSG00000221810 tier1 24 0 0.00 4 2 33.33 ENSG00000228189 0 genome.wustl.edu 37 9 91262478 91262478 + RNA SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 91262478 91262478 G A SNP ENSG00000228189 ENST00000418343 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors RP13-60M5.2 Clone_based_vega_gene ENSG00000228189 tier1 - - 109 0 0.00 65 7 9.72 ENSG00000233296 0 genome.wustl.edu 37 2 677447 677447 + RNA SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 677447 677447 C A SNP ENSG00000233296 ENST00000445418 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors AC092159.2 Clone_based_vega_gene ENSG00000233296 37 0 0.00 18 5 21.74 ENSG00000244306 0 genome.wustl.edu 37 14 19856372 19856372 + RNA SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 19856372 19856372 A G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 15 0 0.00 10 4 28.57 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + RNA DEL A A - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 tier1 25 0 0.00 10 5 33.33 ENSG00000254473 0 genome.wustl.edu 37 9 86322601 86322603 + RNA DEL GGC GGC - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 86322601 86322603 GGC - DEL ENSG00000254473 ENST00000524818 human ensembl 74_37 +1 known rna NULL NULL 0.979:0.997:1.000 - - - no_errors RP11-522I20.3 Clone_based_vega_gene ENSG00000254473 tier1 57 0 0.00 16 2 11.11 EP300 0 genome.wustl.edu 37 22 41553298 41553298 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 22 41553298 41553298 G T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.3387 p.W1129C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 42 0 0.00 29 4 12.12 EPG5 0 genome.wustl.edu 37 18 43529453 43529453 + Silent SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 18 43529453 43529453 G A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known silent c.1494 p.I498 0.846 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 16 0 0.00 5 6 54.55 EPHX4 0 genome.wustl.edu 37 1 92498098 92498098 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 92498098 92498098 G T SNP EPHX4 ENST00000370383 human ensembl 74_37 +1 known nonsense c.268 p.E90* 1.000 NULL pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 tier1 - - 63 0 0.00 61 4 6.15 ERBB4 0 genome.wustl.edu 37 2 212483991 212483991 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 212483991 212483991 C A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2212 p.V738L 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 42 0 0.00 26 12 31.58 ESPL1 0 genome.wustl.edu 37 12 53681812 53681812 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 53681812 53681812 G T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.4233 p.L1411 0.011 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 94 0 0.00 44 4 8.33 ESRP1 0 genome.wustl.edu 37 8 95690544 95690544 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 95690544 95690544 G A SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.1765 p.A589T 0.911 NULL superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 - - 93 0 0.00 18 22 55.00 FAM154A 0 genome.wustl.edu 37 9 18928737 18928737 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 18928737 18928737 G T SNP FAM154A ENST00000380534 human ensembl 74_37 -1 known silent c.738 p.G246 0.986 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 88 0 0.00 38 2 5.00 FAM179A 0 genome.wustl.edu 37 2 29255902 29255902 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 29255902 29255902 G T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known silent c.2115 p.A705 0.002 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 tier1 - - 95 0 0.00 67 4 5.63 FAM184A 0 genome.wustl.edu 37 6 119301428 119301428 + Nonsense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 119301428 119301428 G A SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known nonsense c.2176 p.R726* 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 tier1 - - 87 0 0.00 57 20 25.32 FAM205B 0 genome.wustl.edu 37 9 34834937 34834937 + RNA SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 34834937 34834937 A G SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM205B HGNC ENSG00000257198 tier1 rs202203144 - 22 0 0.00 6 12 66.67 FAM209A 0 genome.wustl.edu 37 20 55100875 55100875 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 55100875 55100875 G T SNP FAM209A ENST00000371328 human ensembl 74_37 +1 known missense c.265 p.G89C 0.000 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 tier1 - - 30 0 0.00 73 4 5.19 FAM214A 0 genome.wustl.edu 37 15 52876946 52876946 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 52876946 52876946 G T SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known missense c.3073 p.L1025M 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 tier1 - - 122 0 0.00 83 6 6.74 FAM78A 0 genome.wustl.edu 37 9 134136473 134136473 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 134136473 134136473 G T SNP FAM78A ENST00000372271 human ensembl 74_37 -1 known silent c.588 p.T196 1.000 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 31 0 0.00 33 3 8.33 FCN2 0 genome.wustl.edu 37 9 137777622 137777622 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 137777622 137777622 G T SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known missense c.438 p.Q146H 0.996 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 69 0 0.00 29 3 9.38 FDXACB1 0 genome.wustl.edu 37 11 111746108 111746108 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 111746108 111746108 G T SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known silent c.1413 p.I471 0.064 NULL pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 tier1 - - 25 0 0.00 9 12 57.14 FER 0 genome.wustl.edu 37 5 108171443 108171443 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 108171443 108171443 G T SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.416 p.S139I 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 tier1 - - 43 0 0.00 24 4 14.29 FKBP15 0 genome.wustl.edu 37 9 115928423 115928423 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 115928423 115928423 G A SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known missense c.3595 p.R1199C 1.000 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 tier1 - - 55 0 0.00 22 8 26.67 FKTN 0 genome.wustl.edu 37 9 108380327 108380327 + Missense_Mutation SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 108380327 108380327 T C SNP FKTN ENST00000223528 human ensembl 74_37 +1 known missense c.998 p.L333S 1.000 pfam_LicD pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom - no_errors FKTN HGNC ENSG00000106692 tier1 - - 34 0 0.00 26 5 16.13 FLT3 0 genome.wustl.edu 37 13 28623855 28623855 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 13 28623855 28623855 G T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.799 p.P267T 0.974 pfam_Immunoglobulin,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 26 0 0.00 26 4 13.33 FMN2 0 genome.wustl.edu 37 1 240555817 240555817 + Missense_Mutation SNP T T G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 240555817 240555817 T G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4865 p.I1622S 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 47 0 0.00 44 6 12.00 FOXD4L3 0 genome.wustl.edu 37 9 70918542 70918542 + Missense_Mutation SNP C C G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 70918542 70918542 C G SNP FOXD4L3 ENST00000342833 human ensembl 74_37 +1 known missense c.675 p.H225Q 0.009 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L3 HGNC ENSG00000187559 tier1 - - 9 0 0.00 1 4 80.00 FRYL 0 genome.wustl.edu 37 4 48567034 48567034 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 48567034 48567034 G T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known silent c.3357 p.G1119 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 40 0 0.00 30 4 11.76 FTH1P10 0 genome.wustl.edu 37 5 17354522 17354522 + RNA SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 17354522 17354522 G A SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors FTH1P10 HGNC ENSG00000223361 tier1 - - 86 0 0.00 40 6 13.04 FZD6 0 genome.wustl.edu 37 8 104336798 104336798 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 104336798 104336798 G T SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known missense c.464 p.R155I 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 - - 56 0 0.00 71 4 5.33 G2E3 0 genome.wustl.edu 37 14 31058620 31058622 + In_Frame_Del DEL AAG AAG - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 31058620 31058622 AAG - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known in_frame_del c.167_169 p.E59in_frame_del 1.000:1.000:1.000 NULL pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 tier1 43 0 0.00 37 2 5.13 GABRA4 0 genome.wustl.edu 37 4 46930343 46930343 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 46930343 46930343 C A SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.1564 p.A522S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 48 0 0.00 34 5 12.82 GALNT16 0 genome.wustl.edu 37 14 69795244 69795244 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 69795244 69795244 G T SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known missense c.646 p.V216L 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 tier1 - - 96 0 0.00 71 4 5.33 GBF1 0 genome.wustl.edu 37 10 104128195 104128195 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 104128195 104128195 G T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.2860 p.A954S 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 tier1 - - 58 0 0.00 28 4 12.50 GDF5 0 genome.wustl.edu 37 20 34025306 34025306 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 34025306 34025306 G T SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.403 p.P135T 0.308 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 30 0 0.00 71 4 5.33 GJA1 0 genome.wustl.edu 37 6 121768889 121768889 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 121768889 121768889 G A SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.896 p.R299H 1.000 pfam_Connexin43_C,prints_Connexin43 pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 tier1 - - 83 0 0.00 50 36 41.86 GLCE 0 genome.wustl.edu 37 15 69548267 69548267 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 69548267 69548267 G T SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.122 p.R41L 0.981 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 78 0 0.00 44 3 6.38 GLDN 0 genome.wustl.edu 37 15 51696856 51696856 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 51696856 51696856 G T SNP GLDN ENST00000335449 human ensembl 74_37 +1 known missense c.1561 p.A521S 0.668 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 48 0 0.00 35 2 5.41 GLT6D1 0 genome.wustl.edu 37 9 138516139 138516139 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 138516139 138516139 G T SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.635 p.P212Q 0.000 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 39 0 0.00 26 2 7.14 GMEB1 0 genome.wustl.edu 37 1 29041386 29041386 + RNA DEL A A - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 29041386 29041386 A - DEL GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 tier1 11 0 0.00 11 5 31.25 GMPS 0 genome.wustl.edu 37 3 155611380 155611380 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 155611380 155611380 G T SNP GMPS ENST00000496455 human ensembl 74_37 +1 known missense c.101 p.G34V 1.000 pfam_GATASE,tigrfam_GMP_synth_N pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 67 0 0.00 44 3 6.38 GOLGA2 0 genome.wustl.edu 37 9 131036245 131036245 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 131036245 131036245 C T SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.91 p.E31K 0.999 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 tier1 - - 84 0 0.00 29 24 45.28 GP1BB 0 genome.wustl.edu 37 22 19711098 19711098 + Silent SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 22 19711098 19711098 C T SNP GP1BB ENST00000366425 human ensembl 74_37 +1 known silent c.6 p.G2 0.998 NULL pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C - no_errors GP1BB HGNC ENSG00000203618 tier1 - - 15 0 0.00 3 7 70.00 GPR64 0 genome.wustl.edu 37 X 19027872 19027872 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 X 19027872 19027872 G T SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.1294 p.L432I 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 tier1 - - 53 0 0.00 38 4 9.52 GPR85 0 genome.wustl.edu 37 7 112723818 112723818 + Missense_Mutation SNP A A T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 112723818 112723818 A T SNP GPR85 ENST00000297146 human ensembl 74_37 -1 known missense c.959 p.F320Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR85 HGNC ENSG00000164604 tier1 - - 57 0 0.00 51 10 16.39 GPR98 0 genome.wustl.edu 37 5 90072353 90072353 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 90072353 90072353 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.12487 p.G4163W 0.999 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 86 0 0.00 46 7 13.21 GPRC6A 0 genome.wustl.edu 37 6 117127866 117127866 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 117127866 117127866 G T SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known silent c.1002 p.S334 0.899 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_vmron_rcpt_2 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 37 0 0.00 29 2 6.45 GRIK1 0 genome.wustl.edu 37 21 31066310 31066310 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 21 31066310 31066310 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.191 p.S64N 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 tier1 - - 48 0 0.00 24 3 11.11 GRIK2 0 genome.wustl.edu 37 6 101847171 101847171 + Silent SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 101847171 101847171 G A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known silent c.18 p.P6 0.999 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 GRIK2 HGNC ENSG00000164418 tier1 - - 27 0 0.00 10 4 28.57 GRK5 0 genome.wustl.edu 37 10 121207692 121207692 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 121207692 121207692 G A SNP GRK5 ENST00000392870 human ensembl 74_37 +1 known missense c.1324 p.V442I 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK5 HGNC ENSG00000198873 tier1 - - 80 0 0.00 38 15 28.30 GSTK1 0 genome.wustl.edu 37 7 142964732 142964732 + Missense_Mutation SNP C C G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 142964732 142964732 C G SNP GSTK1 ENST00000479303 human ensembl 74_37 +1 known missense c.611 p.S204C 0.074 pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold - no_errors GSTK1 HGNC ENSG00000197448 tier1 - - 45 0 0.00 47 31 39.74 GZMK 0 genome.wustl.edu 37 5 54327361 54327361 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 54327361 54327361 G A SNP GZMK ENST00000231009 human ensembl 74_37 +1 known missense c.533 p.R178Q 0.996 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 32 0 0.00 27 2 6.90 HDAC4 0 genome.wustl.edu 37 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 240016733 240016733 G T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.2238 p.F746L 0.191 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 79 0 0.00 60 4 6.25 HDGFRP2 0 genome.wustl.edu 37 19 4491828 4491828 + Missense_Mutation SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 4491828 4491828 A G SNP HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known missense c.674 p.K225R 1.000 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 tier1 - - 87 0 0.00 63 8 11.27 HEATR6 0 genome.wustl.edu 37 17 58121221 58121221 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 58121221 58121221 G T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known silent c.3249 p.A1083 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 98 0 0.00 62 4 6.06 HERC4 0 genome.wustl.edu 37 10 69716602 69716603 + RNA INS - - A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 69716602 69716603 - A INS HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 tier1 27 0 0.00 23 4 14.81 HERC6 0 genome.wustl.edu 37 4 89338611 89338611 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 89338611 89338611 G T SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known silent c.1593 p.L531 0.582 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 tier1 - - 51 0 0.00 32 4 11.11 HINT1 0 genome.wustl.edu 37 5 130500767 130500767 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 130500767 130500767 G T SNP HINT1 ENST00000504202 human ensembl 74_37 -1 known silent c.132 p.L44 0.000 NULL superfamily_HIT-like - no_errors HINT1 HGNC ENSG00000169567 tier1 - - 31 0 0.00 13 4 23.53 HIVEP3 0 genome.wustl.edu 37 1 42049271 42049271 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 42049271 42049271 C A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1198 p.A400S 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 64 0 0.00 48 4 7.69 HMGN5 0 genome.wustl.edu 37 X 80371790 80371790 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 X 80371790 80371790 G T SNP HMGN5 ENST00000358130 human ensembl 74_37 -1 known silent c.180 p.A60 0.020 pfam_HMGN_fam,smart_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC ENSG00000198157 tier1 - - 23 0 0.00 23 5 17.86 HMMR 0 genome.wustl.edu 37 5 162917504 162917504 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 162917504 162917504 G T SNP HMMR ENST00000393915 human ensembl 74_37 +1 known missense c.2071 p.A691S 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 tier1 - - 38 0 0.00 34 4 10.53 HN1L 0 genome.wustl.edu 37 16 1741892 1741892 + Missense_Mutation SNP G G C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 16 1741892 1741892 G C SNP HN1L ENST00000248098 human ensembl 74_37 +1 known missense c.242 p.R81P 0.157 NULL NULL - no_errors HN1L HGNC ENSG00000206053 48 0 0.00 31 2 6.06 HRNR 0 genome.wustl.edu 37 1 152195673 152195673 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 152195673 152195673 G T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.57 p.A19 0.327 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 60 0 0.00 70 4 5.41 HSD3B2 0 genome.wustl.edu 37 1 119965155 119965155 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 119965155 119965155 G T SNP HSD3B2 ENST00000369416 human ensembl 74_37 +1 known missense c.1031 p.S344I 0.997 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 tier1 - - 57 0 0.00 29 4 12.12 HSPG2 0 genome.wustl.edu 37 1 22175189 22175189 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 22175189 22175189 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.7684 p.P2562S 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 60 0 0.00 18 18 50.00 IFIH1 0 genome.wustl.edu 37 2 163134715 163134716 + Frame_Shift_Ins INS - - T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 163134715 163134716 - T INS IFIH1 ENST00000263642 human ensembl 74_37 -1 known frame_shift_ins c.1765_1764 p.A588fs 1.000:1.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 tier1 61 0 0.00 58 31 34.83 IGSF10 0 genome.wustl.edu 37 3 151174850 151174850 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 151174850 151174850 G T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.288 p.I96 0.939 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 72 0 0.00 34 4 10.53 IL10RA 0 genome.wustl.edu 37 11 117859096 117859096 + Splice_Site SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 117859096 117859096 G T SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known splice_site c.68-1 e2-1 0.002 - - - no_errors IL10RA HGNC ENSG00000110324 tier1 - - 73 0 0.00 72 4 5.26 IL5RA 0 genome.wustl.edu 37 3 3139909 3139909 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 3139909 3139909 G T SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.433 p.R145S 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 tier1 - - 128 0 0.00 38 29 43.28 INPP5D 0 genome.wustl.edu 37 2 233990466 233990466 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 233990466 233990466 G A SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.361 p.V121M 0.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 - - 66 0 0.00 35 29 45.31 INTS1 0 genome.wustl.edu 37 7 1518422 1518422 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 1518422 1518422 G T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.5026 p.L1676M 0.750 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 30 0 0.00 24 2 7.69 IRAK2 0 genome.wustl.edu 37 3 10283813 10283813 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 10283813 10283813 G T SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known silent c.1779 p.S593 0.039 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 57 0 0.00 38 3 7.32 IRX6 0 genome.wustl.edu 37 16 55361258 55361258 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 16 55361258 55361258 G T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known silent c.354 p.L118 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 60 0 0.00 34 3 8.11 ITGB1BP1 0 genome.wustl.edu 37 2 9552384 9552384 + Frame_Shift_Del DEL T T - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 9552384 9552384 T - DEL ITGB1BP1 ENST00000483795 human ensembl 74_37 -1 known frame_shift_del c.302 p.N101fs 0.000 NULL pfam_Integrin-bd_ICAP-1 - no_errors ITGB1BP1 HGNC ENSG00000119185 tier1 15 0 0.00 9 3 25.00 KCND3 0 genome.wustl.edu 37 1 112524365 112524365 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 112524365 112524365 G T SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known silent c.984 p.L328 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 82 0 0.00 35 4 10.26 KCNMA1 0 genome.wustl.edu 37 10 78869966 78869966 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 78869966 78869966 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.1096 p.R366C 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 73 0 0.00 32 25 43.86 KCNT2 0 genome.wustl.edu 37 1 196300382 196300382 + Missense_Mutation SNP T T G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 196300382 196300382 T G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2007 p.K669N 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 41 0 0.00 26 5 16.13 KCNV1 0 genome.wustl.edu 37 8 110986369 110986369 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 110986369 110986369 G T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known silent c.249 p.A83 0.925 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 103 0 0.00 60 4 6.25 KCNV1 0 genome.wustl.edu 37 8 110986411 110986411 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 110986411 110986411 G T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known silent c.207 p.A69 0.996 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 72 0 0.00 42 4 8.70 KDM3B 0 genome.wustl.edu 37 5 137708469 137708469 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 137708469 137708469 C A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.299 p.P100H 0.995 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 38 0 0.00 19 3 13.64 KHDRBS2 0 genome.wustl.edu 37 6 62604590 62604590 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 62604590 62604590 G T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.760 p.P254T 0.998 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 48 0 0.00 24 5 17.24 KHDRBS2 0 genome.wustl.edu 37 6 62604610 62604610 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 62604610 62604610 G T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.740 p.A247D 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 42 0 0.00 23 4 14.81 KIAA1549L 0 genome.wustl.edu 37 11 33566437 33566437 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 33566437 33566437 G T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.2025 p.L675F 0.015 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 47 0 0.00 44 4 8.33 KIF18B 0 genome.wustl.edu 37 17 43012200 43012200 + Missense_Mutation SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 43012200 43012200 T C SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.575 p.Q192R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 tier1 - - 78 0 0.00 31 17 35.42 KLRF1 0 genome.wustl.edu 37 12 9994450 9994450 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 9994450 9994450 G A SNP KLRF1 ENST00000279544 human ensembl 74_37 +1 known missense c.377 p.C126Y 0.999 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRF1 HGNC ENSG00000150045 40 0 0.00 28 4 12.50 KMT2A 0 genome.wustl.edu 37 11 118354912 118354912 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 118354912 118354912 G T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.4101 p.P1367 0.002 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 32 0 0.00 50 4 7.41 KPNA1 0 genome.wustl.edu 37 3 122180154 122180154 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 122180154 122180154 G T SNP KPNA1 ENST00000344337 human ensembl 74_37 -1 known missense c.349 p.P117T 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 39 0 0.00 21 5 19.23 L3MBTL2 0 genome.wustl.edu 37 22 41605730 41605730 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 22 41605730 41605730 G T SNP L3MBTL2 ENST00000216237 human ensembl 74_37 +1 known nonsense c.55 p.E19* 1.000 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 tier1 - - 109 0 0.00 69 5 6.76 LGALS1 0 genome.wustl.edu 37 22 38075773 38075773 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 22 38075773 38075773 G T SNP LGALS1 ENST00000489315 human ensembl 74_37 +1 known rna NULL NULL 0.039 - - - no_errors LGALS1 HGNC ENSG00000100097 tier1 - - 28 0 0.00 15 4 21.05 LIMA1 0 genome.wustl.edu 37 12 50615856 50615856 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 50615856 50615856 G T SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.578 p.P193Q 0.997 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 55 0 0.00 38 3 7.32 LIN9 0 genome.wustl.edu 37 1 226496873 226496873 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 226496873 226496873 G T SNP LIN9 ENST00000328205 human ensembl 74_37 -1 known missense c.16 p.Q6K 1.000 NULL pfam_LIN-9/ALY1 - no_errors LIN9 HGNC ENSG00000183814 tier1 - - 71 0 0.00 54 4 6.90 LINC00587 0 genome.wustl.edu 37 9 105348048 105348048 + RNA SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 105348048 105348048 C A SNP LINC00587 ENST00000374801 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors LINC00587 HGNC ENSG00000204250 tier1 - - 69 0 0.00 30 14 31.82 LINC00615 0 genome.wustl.edu 37 12 91340265 91340265 + RNA SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 91340265 91340265 C T SNP LINC00615 ENST00000546725 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00615 HGNC ENSG00000196243 10 0 0.00 9 2 18.18 LINC00615 0 genome.wustl.edu 37 12 91340266 91340266 + RNA SNP A A C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 91340266 91340266 A C SNP LINC00615 ENST00000546725 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00615 HGNC ENSG00000196243 10 0 0.00 8 2 20.00 LIPF 0 genome.wustl.edu 37 10 90436001 90436001 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 90436001 90436001 G T SNP LIPF ENST00000394375 human ensembl 74_37 +1 known missense c.954 p.W318C 0.997 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 tier1 - - 30 0 0.00 16 3 15.79 LOC101927542 0 genome.wustl.edu 37 1 83912311 83912311 + RNA SNP A A C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 83912311 83912311 A C SNP LOC101927542 ENST00000446227 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-413G15.1 Clone_based_vega_gene ENSG00000231364 41 0 0.00 43 3 6.52 LOXL4 0 genome.wustl.edu 37 10 100012168 100012168 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 100012168 100012168 G T SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known silent c.1893 p.S631 0.999 pfam_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 tier1 - - 69 0 0.00 49 4 7.55 LRP4 0 genome.wustl.edu 37 11 46912004 46912004 + Missense_Mutation SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 46912004 46912004 T C SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.1739 p.E580G 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 24 0 0.00 22 3 12.00 LRRC10B 0 genome.wustl.edu 37 11 61277317 61277317 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 61277317 61277317 G A SNP LRRC10B ENST00000378075 human ensembl 74_37 +1 known missense c.847 p.A283T 0.111 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10B HGNC ENSG00000204950 41 0 0.00 25 9 26.47 LRRC7 0 genome.wustl.edu 37 1 70226076 70226076 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 70226076 70226076 G T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.189 p.K63N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 25 0 0.00 8 3 27.27 LRRN4 0 genome.wustl.edu 37 20 6022628 6022628 + Silent SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 6022628 6022628 C T SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known silent c.1263 p.P421 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 86 0 0.00 55 3 5.17 LYST 0 genome.wustl.edu 37 1 235918868 235918868 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 235918868 235918868 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.7139 p.A2380D 1.000 superfamily_ARM-type_fold 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 LYST HGNC ENSG00000143669 tier1 - - 43 0 0.00 38 4 9.52 MAGEL2 0 genome.wustl.edu 37 15 23889632 23889632 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 23889632 23889632 G T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known silent c.1449 p.A483 0.009 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 40 0 0.00 22 3 12.00 MAN2B2 0 genome.wustl.edu 37 4 6612661 6612661 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 6612661 6612661 G T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.2314 p.V772L 0.986 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 tier1 - - 68 0 0.00 40 4 9.09 MAP2 0 genome.wustl.edu 37 2 210559484 210559484 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 210559484 210559484 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2590 p.L864F 0.972 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 68 0 0.00 55 3 5.17 MAPK14 0 genome.wustl.edu 37 6 36020505 36020505 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 36020505 36020505 G T SNP MAPK14 ENST00000229794 human ensembl 74_37 +1 known missense c.146 p.R49L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38 - no_errors MAPK14 HGNC ENSG00000112062 tier1 - - 74 0 0.00 48 4 7.69 MAPK4 0 genome.wustl.edu 37 18 48241545 48241545 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 18 48241545 48241545 G T SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.643 p.A215S 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 tier1 - - 115 0 0.00 59 4 6.35 MAPK8 0 genome.wustl.edu 37 10 49632587 49632587 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 49632587 49632587 G T SNP MAPK8 ENST00000374176 human ensembl 74_37 +1 known missense c.647 p.G216V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK8 HGNC ENSG00000107643 tier1 - - 76 0 0.00 81 5 5.81 MARS 0 genome.wustl.edu 37 12 57910324 57910324 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 57910324 57910324 G T SNP MARS ENST00000262027 human ensembl 74_37 +1 known missense c.2663 p.G888V 1.000 pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 tier1 - - 47 0 0.00 34 4 10.53 MAST2 0 genome.wustl.edu 37 1 46497074 46497074 + Nonsense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 46497074 46497074 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known nonsense c.3004 p.R1002* 0.295 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 54 0 0.00 22 4 14.81 MATN4 0 genome.wustl.edu 37 20 43933120 43933120 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 43933120 43933120 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.391 p.A131T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 tier1 - - 54 0 0.00 73 5 6.41 MAU2 0 genome.wustl.edu 37 19 19448017 19448017 + Silent SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 19448017 19448017 G A SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known silent c.399 p.A133 0.000 pfam_Cohesin_loading_factor,smart_TPR_repeat pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 tier1 - - 38 0 0.00 27 12 30.77 MDN1 0 genome.wustl.edu 37 6 90398491 90398491 + Missense_Mutation SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 90398491 90398491 A G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.11060 p.L3687P 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 42 0 0.00 17 7 29.17 MEGF8 0 genome.wustl.edu 37 19 42860099 42860099 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 42860099 42860099 G T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.4334 p.R1445L 0.998 smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 rs138904325 - 84 0 0.00 56 4 6.67 MFF 0 genome.wustl.edu 37 2 228195538 228195538 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 228195538 228195538 G T SNP MFF ENST00000353339 human ensembl 74_37 +1 known missense c.235 p.V79F 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 tier1 - - 42 0 0.00 34 5 12.82 MGA 0 genome.wustl.edu 37 15 42003189 42003189 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 42003189 42003189 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.2726 p.G909V 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 29 0 0.00 7 3 30.00 MIA3 0 genome.wustl.edu 37 1 222794602 222794602 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 222794602 222794602 G T SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.235 p.A79S 1.000 pfam_SH3_2,superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 - - 100 0 0.00 68 4 5.56 MMP14 0 genome.wustl.edu 37 14 23312566 23312566 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 23312566 23312566 G T SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.789 p.W263C 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 tier1 - - 53 0 0.00 30 4 11.76 MMRN2 0 genome.wustl.edu 37 10 88703372 88703372 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 88703372 88703372 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.1169 p.R390K 0.080 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 tier1 - - 104 0 0.00 13 36 73.47 MOK 0 genome.wustl.edu 37 14 102771349 102771349 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 102771349 102771349 G T SNP MOK ENST00000521493 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MOK HGNC ENSG00000080823 tier1 - - 68 0 0.00 25 4 13.79 MPPED2 0 genome.wustl.edu 37 11 30557580 30557580 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 30557580 30557580 C T SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known missense c.271 p.G91R 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 tier1 - - 55 0 0.00 39 9 18.75 MRPL13 0 genome.wustl.edu 37 8 121426269 121426269 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 121426269 121426269 G T SNP MRPL13 ENST00000306185 human ensembl 74_37 -1 known missense c.476 p.T159K 1.000 superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type - no_errors MRPL13 HGNC ENSG00000172172 39 0 0.00 40 3 6.98 MRPS2 0 genome.wustl.edu 37 9 138395442 138395442 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 138395442 138395442 G T SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.354 p.L118 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 tier1 - - 21 0 0.00 10 3 23.08 MRPS36 0 genome.wustl.edu 37 5 68524115 68524115 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 68524115 68524115 G T SNP MRPS36 ENST00000256441 human ensembl 74_37 +1 known silent c.195 p.L65 0.056 NULL NULL - no_errors MRPS36 HGNC ENSG00000134056 tier1 - - 32 0 0.00 17 3 15.00 MRPS5 0 genome.wustl.edu 37 2 95766223 95766223 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 95766223 95766223 G T SNP MRPS5 ENST00000272418 human ensembl 74_37 -1 known silent c.927 p.P309 1.000 pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 tier1 - - 56 0 0.00 71 5 6.58 MT-ND4L 0 genome.wustl.edu 37 MT 10646 10646 + Silent SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 MT 10646 10646 G A SNP MT-ND4L ENST00000361335 human ensembl 74_37 +1 known silent c.177 p.V59 NULL pfam_NADH_UbQ_OxRdtase_chain4L/K pfam_NADH_UbQ_OxRdtase_chain4L/K - no_errors MT-ND4L HGNC ENSG00000212907 tier1 - - 113 0 0.00 1 7 87.50 MT-RNR1 0 genome.wustl.edu 37 MT 1202 1202 + RNA SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 MT 1202 1202 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 69 0 0.00 7 2 22.22 MT-RNR1 0 genome.wustl.edu 37 MT 1273 1273 + RNA SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 MT 1273 1273 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 89 0 0.00 0 5 100.00 MTHFD2 0 genome.wustl.edu 37 2 74432845 74432845 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 74432845 74432845 G T SNP MTHFD2 ENST00000394053 human ensembl 74_37 +1 known missense c.115 p.V39F 0.757 pfam_THF_DH/CycHdrlase_cat_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2 HGNC ENSG00000065911 47 0 0.00 35 3 7.89 MTIF2 0 genome.wustl.edu 37 2 55464537 55464537 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 55464537 55464537 G T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.1898 p.S633Y 0.990 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 34 0 0.00 27 3 10.00 MTOR 0 genome.wustl.edu 37 1 11300513 11300513 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 11300513 11300513 G T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.1633 p.L545M 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 113 0 0.00 71 5 6.58 MUC15 0 genome.wustl.edu 37 11 26582746 26582746 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 26582746 26582746 G T SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.952 p.P318T 1.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 37 0 0.00 31 2 6.06 MUC16 0 genome.wustl.edu 37 19 9049125 9049125 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 9049125 9049125 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.32506 p.P10836T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 93 0 0.00 57 4 6.56 MUC16 0 genome.wustl.edu 37 19 9061788 9061788 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 9061788 9061788 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.25658 p.P8553H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 53 0 0.00 43 4 8.51 MUC21 0 genome.wustl.edu 37 6 30954063 30954063 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 30954063 30954063 G T SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known silent c.111 p.V37 0.000 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 tier1 - - 90 0 0.00 66 4 5.71 MUSK 0 genome.wustl.edu 37 9 113562836 113562836 + Missense_Mutation SNP A A T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 113562836 113562836 A T SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.2178 p.L726F 0.868 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 36 0 0.00 19 3 13.64 MYH10 0 genome.wustl.edu 37 17 8455418 8455418 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 8455418 8455418 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.835 p.R279C 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 73 0 0.00 33 2 5.71 MYL10 0 genome.wustl.edu 37 7 101259547 101259547 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 101259547 101259547 G T SNP MYL10 ENST00000223167 human ensembl 74_37 -1 known silent c.486 p.A162 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL10 HGNC ENSG00000106436 tier1 - - 111 0 0.00 101 6 5.61 MYO15A 0 genome.wustl.edu 37 17 18060519 18060519 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 18060519 18060519 G T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.8763 p.E2921D 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,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_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 39 0 0.00 19 4 17.39 MYRIP 0 genome.wustl.edu 37 3 40085745 40085745 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 40085745 40085745 C T SNP MYRIP ENST00000396217 human ensembl 74_37 +1 known missense c.185 p.A62V 0.296 NULL pfam_Myrip/Melanophilin - no_errors MYRIP HGNC ENSG00000170011 tier1 - - 43 0 0.00 11 11 50.00 MYRIP 0 genome.wustl.edu 37 3 40299767 40299767 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 40299767 40299767 G T SNP MYRIP ENST00000459828 human ensembl 74_37 +1 known rna NULL NULL 0.714 - - - no_errors MYRIP HGNC ENSG00000170011 tier1 - - 42 0 0.00 23 3 11.54 NADSYN1 0 genome.wustl.edu 37 11 71166197 71166197 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 71166197 71166197 G T SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known nonsense c.127 p.G43* 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 tier1 - - 35 0 0.00 53 4 7.02 NBEA 0 genome.wustl.edu 37 13 36167537 36167537 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 13 36167537 36167537 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.7249 p.V2417F 0.938 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 66 0 0.00 47 3 6.00 NCAM2 0 genome.wustl.edu 37 21 22881293 22881293 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 21 22881293 22881293 G T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2199 p.M733I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 53 0 0.00 27 3 10.00 NCAPD2 0 genome.wustl.edu 37 12 6635628 6635628 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 6635628 6635628 G T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.2581 p.D861Y 1.000 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 82 0 0.00 30 3 9.09 NDST4 0 genome.wustl.edu 37 4 115769397 115769397 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 115769397 115769397 G T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known silent c.1914 p.G638 0.114 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 66 0 0.00 58 4 6.45 NEB 0 genome.wustl.edu 37 2 152550851 152550851 + Missense_Mutation SNP T T G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 152550851 152550851 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.1882 p.K628Q 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 49 0 0.00 41 9 18.00 NEFM 0 genome.wustl.edu 37 8 24772311 24772311 + Silent SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 24772311 24772311 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.1005 p.R335 0.977 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 tier1 - - 21 0 0.00 0 2 100.00 NEK6 0 genome.wustl.edu 37 9 127110081 127110081 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 127110081 127110081 G T SNP NEK6 ENST00000373600 human ensembl 74_37 +1 known missense c.913 p.G305W 0.011 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 52 0 0.00 33 2 5.71 NEK8 0 genome.wustl.edu 37 17 27062333 27062333 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 27062333 27062333 G T SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.562 p.A188S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 tier1 - - 66 0 0.00 68 4 5.56 NME5 0 genome.wustl.edu 37 5 137474351 137474351 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 137474351 137474351 G T SNP NME5 ENST00000265191 human ensembl 74_37 -1 known missense c.119 p.T40N 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5 pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 56 0 0.00 35 2 5.41 NME8 0 genome.wustl.edu 37 7 37923916 37923916 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 37923916 37923916 C T SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.1006 p.R336C 0.001 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 29 0 0.00 26 2 7.14 NOSTRIN 0 genome.wustl.edu 37 2 169716090 169716090 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 169716090 169716090 G T SNP NOSTRIN ENST00000444448 human ensembl 74_37 +1 known missense c.1293 p.E431D 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 tier1 - - 86 0 0.00 72 4 5.26 NPAS1 0 genome.wustl.edu 37 19 47539368 47539368 + Silent SNP T T G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 47539368 47539368 T G SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known silent c.669 p.L223 0.812 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 tier1 - - 30 0 0.00 18 13 41.94 NPAS1 0 genome.wustl.edu 37 19 47539377 47539377 + Silent SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 47539377 47539377 C A SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known silent c.678 p.T226 0.747 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 tier1 - - 24 0 0.00 16 13 44.83 NR5A2 0 genome.wustl.edu 37 1 200008904 200008904 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 200008904 200008904 G T SNP NR5A2 ENST00000367362 human ensembl 74_37 +1 known missense c.183 p.Q61H 1.000 pirsf_Steroidogenic_factor_1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 59 0 0.00 38 2 5.00 NUB1 0 genome.wustl.edu 37 7 151065971 151065971 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 151065971 151065971 G T SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known nonsense c.1318 p.E440* 1.000 superfamily_UBA-like pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 tier1 - - 46 0 0.00 54 4 6.90 NXPE1 0 genome.wustl.edu 37 11 114401556 114401556 + Silent SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 114401556 114401556 T C SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known silent c.174 p.T58 0.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 tier1 - - 107 0 0.00 66 33 33.33 OFD1 0 genome.wustl.edu 37 X 13778545 13778545 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 X 13778545 13778545 G T SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.1966 p.V656F 0.129 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 30 0 0.00 27 3 10.00 OR11H4 0 genome.wustl.edu 37 14 20711654 20711654 + Frame_Shift_Del DEL T T - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 20711654 20711654 T - DEL OR11H4 ENST00000315409 human ensembl 74_37 +1 known frame_shift_del c.704 p.Q237fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 tier1 90 0 0.00 65 24 26.97 OR4C6 0 genome.wustl.edu 37 11 55433334 55433334 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 55433334 55433334 G T SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.692 p.R231L 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 100 0 0.00 66 4 5.71 OR51A4 0 genome.wustl.edu 37 11 4967901 4967901 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 4967901 4967901 C T SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.430 p.A144T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 31 0 0.00 20 3 13.04 OR5T2 0 genome.wustl.edu 37 11 56000574 56000574 + Missense_Mutation SNP A A C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 56000574 56000574 A C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.88 p.F30V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 45 0 0.00 20 13 39.39 OSBPL1A 0 genome.wustl.edu 37 18 21761133 21761133 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 18 21761133 21761133 G T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known silent c.1788 p.L596 0.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 38 0 0.00 27 3 10.00 OSBPL5 0 genome.wustl.edu 37 11 3123435 3123435 + Missense_Mutation SNP C C G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 3123435 3123435 C G SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.1403 p.R468P 0.999 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 tier1 - - 43 0 0.00 12 20 62.50 P2RX7 0 genome.wustl.edu 37 12 121603953 121603953 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 121603953 121603953 G T SNP P2RX7 ENST00000546057 human ensembl 74_37 +1 known missense c.707 p.R236L 0.617 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC ENSG00000089041 tier1 - - 42 0 0.00 25 4 13.79 PABPC3 0 genome.wustl.edu 37 13 25672221 25672221 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 13 25672221 25672221 C A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.1885 p.P629T 1.000 superfamily_PABP_HYD pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 55 0 0.00 55 3 5.17 PADI2 0 genome.wustl.edu 37 1 17409070 17409070 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 17409070 17409070 G T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.1128 p.N376K 0.855 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 20 0 0.00 21 4 16.00 PAPOLG 0 genome.wustl.edu 37 2 61014108 61014108 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 61014108 61014108 G T SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.1193 p.R398L 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 28 0 0.00 25 2 7.41 PCDH15 0 genome.wustl.edu 37 10 55568657 55568657 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 55568657 55568657 G T SNP PCDH15 ENST00000395445 human ensembl 74_37 -1 novel missense c.5153 p.P1718H 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 109 0 0.00 83 6 6.74 PCDH17 0 genome.wustl.edu 37 13 58207353 58207353 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 13 58207353 58207353 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.673 p.A225T 1.000 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 PCDH17 HGNC ENSG00000118946 tier1 - - 37 0 0.00 11 6 35.29 PCDHA2 0 genome.wustl.edu 37 5 140176802 140176802 + Silent SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 140176802 140176802 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.2253 p.S751 0.588 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 - - 76 0 0.00 10 15 60.00 PCDHGB1 0 genome.wustl.edu 37 5 140730999 140730999 + Frame_Shift_Del DEL A A - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 140730999 140730999 A - DEL PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known frame_shift_del c.1172 p.E391fs 0.018 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 PCDHGB1 HGNC ENSG00000254221 tier1 22 0 0.00 7 14 66.67 PDCD4 0 genome.wustl.edu 37 10 112649298 112649298 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 112649298 112649298 G T SNP PDCD4 ENST00000280154 human ensembl 74_37 +1 known missense c.785 p.G262V 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC ENSG00000150593 tier1 - - 22 0 0.00 7 4 36.36 PDE2A 0 genome.wustl.edu 37 11 72342134 72342134 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 72342134 72342134 G A SNP PDE2A ENST00000539367 human ensembl 74_37 -1 known missense c.173 p.T58M 0.536 NULL NULL - no_errors PDE2A HGNC ENSG00000186642 tier1 - - 37 0 0.00 16 7 30.43 PDE4D 0 genome.wustl.edu 37 5 58270610 58270610 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 58270610 58270610 G T SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known missense c.2311 p.Q771K 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 66 0 0.00 33 4 10.81 PDE8B 0 genome.wustl.edu 37 5 76708044 76708044 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 76708044 76708044 G T SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.1696 p.A566S 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 tier1 - - 31 0 0.00 17 3 15.00 PDXDC2P 0 genome.wustl.edu 37 16 70065812 70065812 + RNA SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 16 70065812 70065812 C A SNP PDXDC2P ENST00000325845 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 70 0 0.00 68 4 5.56 PDZD4 0 genome.wustl.edu 37 X 153069014 153069014 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 X 153069014 153069014 G A SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known missense c.2104 p.R702W 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 tier1 - - 17 0 0.00 16 10 38.46 PHF3 0 genome.wustl.edu 37 6 64404571 64404571 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 64404571 64404571 G T SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.2597 p.R866L 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 30 0 0.00 20 3 13.04 PIAS1 0 genome.wustl.edu 37 15 68438944 68438944 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 68438944 68438944 G T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.734 p.R245L 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 53 0 0.00 26 2 7.14 PIP4K2A 0 genome.wustl.edu 37 10 23003251 23003251 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 23003251 23003251 G A SNP PIP4K2A ENST00000376573 human ensembl 74_37 -1 known missense c.5 p.A2V 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 24 0 0.00 22 2 8.33 PKHD1L1 0 genome.wustl.edu 37 8 110457250 110457250 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 110457250 110457250 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.5152 p.A1718S 0.004 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 40 0 0.00 43 4 8.51 PKHD1L1 0 genome.wustl.edu 37 8 110516714 110516714 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 110516714 110516714 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.10987 p.D3663Y 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 48 0 0.00 21 10 32.26 PKHD1L1 0 genome.wustl.edu 37 8 110503297 110503297 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 110503297 110503297 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.10081 p.D3361Y 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 37 0 0.00 17 2 10.53 PLA2G4A 0 genome.wustl.edu 37 1 186915831 186915831 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 186915831 186915831 G T SNP PLA2G4A ENST00000367466 human ensembl 74_37 +1 known missense c.1096 p.D366Y 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 tier1 - - 51 0 0.00 59 4 6.35 PLXNA4 0 genome.wustl.edu 37 7 131908351 131908351 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 131908351 131908351 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.2032 p.R678W 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 43 0 0.00 47 10 17.54 POGZ 0 genome.wustl.edu 37 1 151396522 151396522 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 151396522 151396522 G T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known silent c.1426 p.R476 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 tier1 - - 67 0 0.00 68 4 5.56 POLR1A 0 genome.wustl.edu 37 2 86258678 86258678 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 86258678 86258678 G T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known silent c.4353 p.P1451 0.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 195 0 0.00 92 5 5.15 POM121L2 0 genome.wustl.edu 37 6 27279309 27279309 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 27279309 27279309 G A SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known missense c.641 p.P214L 0.012 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 83 0 0.00 27 34 55.74 PPP3CB 0 genome.wustl.edu 37 10 75199647 75199647 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 75199647 75199647 G T SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known missense c.1382 p.A461D 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 tier1 - - 95 0 0.00 76 4 5.00 PRKAR1B 0 genome.wustl.edu 37 7 750980 750980 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 750980 750980 C T SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known missense c.163 p.E55K 1.000 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 tier1 - - 66 0 0.00 56 24 30.00 PRKAR2B 0 genome.wustl.edu 37 7 106762438 106762438 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 106762438 106762438 G A SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known missense c.385 p.A129T 1.000 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 tier1 - - 32 0 0.00 9 20 68.97 PRKD1 0 genome.wustl.edu 37 14 30066865 30066865 + Silent SNP T T G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 30066865 30066865 T G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known silent c.2266 p.R756 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 tier1 - - 67 0 0.00 22 19 46.34 PRKRA 0 genome.wustl.edu 37 2 179301047 179301047 + Splice_Site SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 179301047 179301047 C T SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known splice_site c.610-1 e7-1 1.000 - - - no_errors PRKRA HGNC ENSG00000180228 29 0 0.00 25 5 16.67 PROX1 0 genome.wustl.edu 37 1 214171232 214171232 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 214171232 214171232 G T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1354 p.A452S 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 49 0 0.00 40 5 11.11 PTGS2 0 genome.wustl.edu 37 1 186645102 186645102 + Silent SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 186645102 186645102 G A SNP PTGS2 ENST00000367468 human ensembl 74_37 -1 known silent c.1185 p.Y395 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 tier1 - - 100 0 0.00 52 55 51.40 PTGS2 0 genome.wustl.edu 37 1 186645562 186645562 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 186645562 186645562 G T SNP PTGS2 ENST00000490885 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTGS2 HGNC ENSG00000073756 tier1 - - 23 0 0.00 22 5 18.52 PTPN14 0 genome.wustl.edu 37 1 214542828 214542828 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 214542828 214542828 G T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.3243 p.G1081 0.940 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 - - 61 0 0.00 68 4 5.56 PTPRC 0 genome.wustl.edu 37 1 198717261 198717261 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 198717261 198717261 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2871 p.W957C 1.000 pirsf_Leukocyte_common_ag,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 47 0 0.00 62 5 7.46 PTPRD 0 genome.wustl.edu 37 9 8507340 8507340 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 8507340 8507340 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1638 p.N546K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 85 0 0.00 29 3 9.38 PTPRF 0 genome.wustl.edu 37 1 44044539 44044539 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 44044539 44044539 G T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known silent c.627 p.A209 0.671 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 74 0 0.00 31 4 11.43 PTPRR 0 genome.wustl.edu 37 12 71139719 71139719 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 71139719 71139719 G T SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.886 p.P296T 0.964 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 tier1 - - 58 0 0.00 47 4 7.84 PTPRS 0 genome.wustl.edu 37 19 5265128 5265128 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 5265128 5265128 G T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.459 p.T153 0.987 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 135 0 0.00 64 4 5.88 PTPRT 0 genome.wustl.edu 37 20 40944500 40944500 + Missense_Mutation SNP A A C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 40944500 40944500 A C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2002 p.L668V 0.707 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 104 0 0.00 142 35 19.77 RALGPS1 0 genome.wustl.edu 37 9 129815214 129815214 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 129815214 129815214 G T SNP RALGPS1 ENST00000259351 human ensembl 74_37 +1 known missense c.479 p.W160L 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 tier1 - - 71 0 0.00 72 4 5.26 RAPGEF6 0 genome.wustl.edu 37 5 130766704 130766704 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 130766704 130766704 G T SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.4313 p.S1438Y 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 48 0 0.00 27 2 6.90 RASGRF1 0 genome.wustl.edu 37 15 79310220 79310220 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 79310220 79310220 G T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.1635 p.H545Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 53 0 0.00 43 4 8.51 RBBP6 0 genome.wustl.edu 37 16 24574976 24574976 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 16 24574976 24574976 G T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.1511 p.G504V 0.998 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 53 0 0.00 51 3 5.56 RBM11 0 genome.wustl.edu 37 21 15593474 15593474 + Missense_Mutation SNP A A C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 21 15593474 15593474 A C SNP RBM11 ENST00000400577 human ensembl 74_37 +1 known missense c.316 p.N106H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 tier1 - - 12 0 0.00 2 5 71.43 RCOR3 0 genome.wustl.edu 37 1 211449619 211449619 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 211449619 211449619 G T SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.201 p.W67C 1.000 pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 47 0 0.00 58 4 6.45 RIMS2 0 genome.wustl.edu 37 8 104831755 104831755 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 104831755 104831755 G A SNP RIMS2 ENST00000262231 human ensembl 74_37 +1 known missense c.20 p.R7H 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 37 0 0.00 31 7 18.42 RNF213 0 genome.wustl.edu 37 17 78318720 78318720 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 78318720 78318720 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.6585 p.E2195D 0.016 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 29 0 0.00 10 3 23.08 RPL32 0 genome.wustl.edu 37 3 12877710 12877710 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 12877710 12877710 G T SNP RPL32 ENST00000396953 human ensembl 74_37 -1 known silent c.291 p.A97 0.037 pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e - no_errors RPL32 HGNC ENSG00000144713 75 0 0.00 50 4 7.41 RPS19 0 genome.wustl.edu 37 19 42364855 42364855 + Frame_Shift_Del DEL T T - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 42364855 42364855 T - DEL RPS19 ENST00000593863 human ensembl 74_37 +1 known frame_shift_del c.11 p.T5fs 1.000 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC ENSG00000105372 tier1 59 0 0.00 46 5 9.80 RPS19 0 genome.wustl.edu 37 19 42364858 42364858 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 42364858 42364858 C A SNP RPS19 ENST00000593863 human ensembl 74_37 +1 known missense c.14 p.T5N 1.000 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC ENSG00000105372 tier1 - - 58 0 0.00 45 6 11.76 RREB1 0 genome.wustl.edu 37 6 7230981 7230981 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 7230981 7230981 G T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.2649 p.S883 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 tier1 - - 46 0 0.00 32 4 11.11 RXFP2 0 genome.wustl.edu 37 13 32356836 32356836 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 13 32356836 32356836 G T SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.881 p.G294V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 36 0 0.00 46 4 8.00 RYR2 0 genome.wustl.edu 37 1 237831225 237831225 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 237831225 237831225 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.8551 p.A2851S 1.000 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 61 0 0.00 73 5 6.41 RYR2 0 genome.wustl.edu 37 1 237991737 237991737 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 237991737 237991737 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.14665 p.D4889Y 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 75 0 0.00 59 5 7.81 SAMD3 0 genome.wustl.edu 37 6 130476116 130476116 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 130476116 130476116 G T SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.877 p.Q293K 0.999 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 75 0 0.00 50 4 7.41 SAMHD1 0 genome.wustl.edu 37 20 35539668 35539668 + Missense_Mutation SNP C C G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 35539668 35539668 C G SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.1223 p.R408P 0.000 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 tier1 - - 64 0 0.00 221 14 5.93 SCLY 0 genome.wustl.edu 37 2 238991976 238991976 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 238991976 238991976 G T SNP SCLY ENST00000254663 human ensembl 74_37 +1 known nonsense c.889 p.E297* 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS - no_errors SCLY HGNC ENSG00000132330 tier1 - - 43 0 0.00 45 4 8.16 SCN5A 0 genome.wustl.edu 37 3 38591965 38591965 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 38591965 38591965 G T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.5898 p.S1966 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 36 0 0.00 17 3 15.00 SCN5A 0 genome.wustl.edu 37 3 38592867 38592867 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 38592867 38592867 G T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4996 p.L1666I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 64 0 0.00 36 2 5.26 SCYL3 0 genome.wustl.edu 37 1 169838164 169838164 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 169838164 169838164 G T SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known silent c.642 p.L214 0.985 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 100 0 0.00 59 5 7.81 SDHA 0 genome.wustl.edu 37 5 225570 225570 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 225570 225570 G T SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.349 p.D117Y 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 tier1 - - 206 0 0.00 157 10 5.99 SDPR 0 genome.wustl.edu 37 2 192700728 192700728 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 192700728 192700728 G A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.1199 p.A400V 0.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 tier1 - - 28 0 0.00 15 19 55.88 SEC22B 0 genome.wustl.edu 37 1 145096374 145096374 + RNA SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 145096374 145096374 C T SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 - - 13 0 0.00 4 6 60.00 SEC63 0 genome.wustl.edu 37 6 108214859 108214859 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 108214859 108214859 G T SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.1501 p.Q501K 1.000 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 tier1 - - 84 0 0.00 55 4 6.78 SERINC3 0 genome.wustl.edu 37 20 43132519 43132519 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 20 43132519 43132519 G T SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known missense c.992 p.S331Y 0.418 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 tier1 - - 55 0 0.00 85 5 5.56 SERTM1 0 genome.wustl.edu 37 13 37269257 37269257 + Silent SNP G G C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 13 37269257 37269257 G C SNP SERTM1 ENST00000315190 human ensembl 74_37 +1 known silent c.42 p.V14 1.000 NULL NULL - no_errors SERTM1 HGNC ENSG00000180440 41 0 0.00 21 4 16.00 SGCG 0 genome.wustl.edu 37 13 23808769 23808769 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 13 23808769 23808769 G T SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.215 p.C72F 0.175 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 tier1 - - 49 0 0.00 35 17 32.69 SH3GL1P1 0 genome.wustl.edu 37 17 30368351 30368351 + RNA SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 30368351 30368351 C T SNP SH3GL1P1 ENST00000579186 human ensembl 74_37 +1 known rna NULL NULL 0.796 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 tier1 - - 82 0 0.00 43 10 18.87 SH3GLB2 0 genome.wustl.edu 37 9 131772121 131772121 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 131772121 131772121 G T SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.780 p.F260L 0.951 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 56 0 0.00 51 3 5.56 SLC13A1 0 genome.wustl.edu 37 7 122811922 122811922 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 122811922 122811922 G T SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.265 p.L89I 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 tier1 - - 24 0 0.00 28 4 12.50 SLC22A16 0 genome.wustl.edu 37 6 110760034 110760034 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 110760034 110760034 G T SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known silent c.1200 p.P400 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 tier1 - - 30 0 0.00 20 3 13.04 SLC22A16 0 genome.wustl.edu 37 6 110777989 110777989 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 110777989 110777989 G T SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known silent c.285 p.I95 0.325 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 tier1 - - 108 0 0.00 74 5 6.33 SLC25A40 0 genome.wustl.edu 37 7 87465575 87465575 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 87465575 87465575 G T SNP SLC25A40 ENST00000341119 human ensembl 74_37 -1 known missense c.1006 p.Q336K 0.007 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A40 HGNC ENSG00000075303 tier1 - - 64 0 0.00 76 4 5.00 SLC27A2 0 genome.wustl.edu 37 15 50519185 50519185 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 50519185 50519185 G T SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known nonsense c.1267 p.G423* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 tier1 - - 38 0 0.00 31 4 11.43 SLC4A7 0 genome.wustl.edu 37 3 27433267 27433267 + Silent SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 27433267 27433267 G A SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known silent c.3150 p.F1050 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 tier1 - - 31 0 0.00 20 6 23.08 SLCO1B3 0 genome.wustl.edu 37 12 21015437 21015437 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 21015437 21015437 G T SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.573 p.L191F 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 88 0 0.00 58 4 6.45 SLIT1 0 genome.wustl.edu 37 10 98778853 98778853 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 98778853 98778853 G T SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.2758 p.L920M 0.041 NULL pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 37 0 0.00 20 2 9.09 SNRNP200 0 genome.wustl.edu 37 2 96942450 96942450 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 96942450 96942450 G T SNP SNRNP200 ENST00000429650 human ensembl 74_37 -1 known missense c.1768 p.R590S 0.002 smart_Sec63-dom pfam_Sec63-dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 27 0 0.00 23 4 14.81 SNX19 0 genome.wustl.edu 37 11 130780017 130780017 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 130780017 130780017 G T SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known missense c.1930 p.P644T 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 tier1 - - 60 0 0.00 55 4 6.78 SPAG9 0 genome.wustl.edu 37 17 49077040 49077041 + Frame_Shift_Ins INS - - T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 49077040 49077041 - T INS SPAG9 ENST00000262013 human ensembl 74_37 -1 known frame_shift_ins c.1646_1645 p.R549fs 1.000:1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 tier1 77 0 0.00 56 28 33.33 SPRR2B 0 genome.wustl.edu 37 1 153043267 153043267 + Missense_Mutation SNP C C A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 153043267 153043267 C A SNP SPRR2B ENST00000341611 human ensembl 74_37 -1 known missense c.49 p.V17L 0.326 NULL NULL - no_errors SPRR2B HGNC ENSG00000196805 tier1 - - 99 0 0.00 80 18 18.37 SRGAP3 0 genome.wustl.edu 37 3 9258348 9258348 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 9258348 9258348 G T SNP SRGAP3 ENST00000433332 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 58 0 0.00 23 4 14.81 SRM 0 genome.wustl.edu 37 1 11116694 11116694 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 11116694 11116694 C T SNP SRM ENST00000376957 human ensembl 74_37 -1 known missense c.502 p.D168N 0.957 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase - no_errors SRM HGNC ENSG00000116649 tier1 - - 68 0 0.00 30 31 50.82 SRM 0 genome.wustl.edu 37 1 11116718 11116718 + Missense_Mutation SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 11116718 11116718 T C SNP SRM ENST00000376957 human ensembl 74_37 -1 known missense c.478 p.M160V 1.000 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase - no_errors SRM HGNC ENSG00000116649 tier1 - - 86 0 0.00 33 35 51.47 SSPO 0 genome.wustl.edu 37 7 149486259 149486259 + RNA SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 149486259 149486259 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 76 0 0.00 53 4 7.02 SSUH2 0 genome.wustl.edu 37 3 8671350 8671351 + Frame_Shift_Ins INS - - A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 8671350 8671351 - A INS SSUH2 ENST00000544814 human ensembl 74_37 -1 known frame_shift_ins c.588_587 p.V197fs 0.992:0.763 superfamily_HSP_DnaJ_Cys-rich_dom superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 tier1 77 0 0.00 34 4 10.53 STK10 0 genome.wustl.edu 37 5 171491816 171491816 + Frame_Shift_Del DEL C C - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 171491816 171491816 C - DEL STK10 ENST00000176763 human ensembl 74_37 -1 known frame_shift_del c.1990 p.V664fs 1.000 pfam_PKK pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK10 HGNC ENSG00000072786 tier1 18 0 0.00 5 2 28.57 STRAP 0 genome.wustl.edu 37 12 16052859 16052859 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 16052859 16052859 G T SNP STRAP ENST00000025399 human ensembl 74_37 +1 known missense c.836 p.G279V 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 STRAP HGNC ENSG00000023734 80 0 0.00 35 2 5.41 STX2 0 genome.wustl.edu 37 12 131276465 131276465 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 131276465 131276465 G T SNP STX2 ENST00000261653 human ensembl 74_37 -1 known missense c.844 p.L282I 1.000 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC ENSG00000111450 tier1 - - 43 0 0.00 25 3 10.71 SUCO 0 genome.wustl.edu 37 1 172571303 172571303 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 172571303 172571303 G A SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.3574 p.D1192N 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 tier1 - - 76 0 0.00 28 44 61.11 SUPT6H 0 genome.wustl.edu 37 17 27016493 27016493 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 27016493 27016493 G T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.3256 p.A1086S 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 tier1 - - 45 0 0.00 62 4 6.06 SYNE1 0 genome.wustl.edu 37 6 152542556 152542559 + Splice_Site DEL CATA CATA - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 CATA CATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 152542556 152542559 CATA - DEL SYNE1 ENST00000265368 human ensembl 74_37 -1 known splice_site_del c.21656+2_21656+1 e116+2 0.121:0.133:0.986:1.000 - - - no_errors SYNE1 HGNC ENSG00000131018 tier1 45 0 0.00 29 6 17.14 SYT14L 0 genome.wustl.edu 37 4 68928291 68928291 + RNA SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 68928291 68928291 C T SNP SYT14L ENST00000600441 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-35D5.1 Clone_based_vega_gene ENSG00000215127 tier1 - - 93 0 0.00 47 30 38.96 TAAR6 0 genome.wustl.edu 37 6 132892314 132892314 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 132892314 132892314 G T SNP TAAR6 ENST00000275198 human ensembl 74_37 +1 known missense c.854 p.G285V 0.024 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TAAR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR6 HGNC ENSG00000146383 tier1 - - 72 0 0.00 43 4 8.51 TAF2 0 genome.wustl.edu 37 8 120801935 120801935 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 120801935 120801935 G T SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.1465 p.Q489K 1.000 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 tier1 - - 41 0 0.00 37 4 9.76 TANC2 0 genome.wustl.edu 37 17 61315435 61315435 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 17 61315435 61315435 G T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.808 p.A270S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 80 0 0.00 52 3 5.45 TBL2 0 genome.wustl.edu 37 7 72987235 72987235 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 72987235 72987235 G T SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known missense c.664 p.L222M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 tier1 - - 81 0 0.00 95 6 5.94 TDRD5 0 genome.wustl.edu 37 1 179659906 179659906 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 179659906 179659906 G A SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known missense c.2936 p.R979H 0.003 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 tier1 - - 30 0 0.00 31 9 22.50 TECTA 0 genome.wustl.edu 37 11 121008422 121008422 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 121008422 121008422 G T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3234 p.K1078N 0.909 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 45 0 0.00 23 4 14.81 TEDDM1 0 genome.wustl.edu 37 1 182369110 182369110 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 182369110 182369110 G T SNP TEDDM1 ENST00000367565 human ensembl 74_37 -1 known missense c.511 p.L171M 1.000 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TEDDM1 HGNC ENSG00000203730 27 0 0.00 33 2 5.71 TENM4 0 genome.wustl.edu 37 11 78419504 78419504 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 78419504 78419504 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.4111 p.R1371C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 34 0 0.00 25 23 47.92 TERT 0 genome.wustl.edu 37 5 1278870 1278870 + Silent SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 5 1278870 1278870 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.2172 p.R724 0.656 pfam_RVT,pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 86 0 0.00 74 4 5.13 TES 0 genome.wustl.edu 37 7 115874616 115874616 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 115874616 115874616 G T SNP TES ENST00000358204 human ensembl 74_37 +1 known missense c.56 p.G19V 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 tier1 - - 58 0 0.00 76 4 5.00 TFF2 0 genome.wustl.edu 37 21 43771051 43771051 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 21 43771051 43771051 C T SNP TFF2 ENST00000291526 human ensembl 74_37 -1 known missense c.16 p.A6T 0.000 NULL pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF2 HGNC ENSG00000160181 79 0 0.00 37 3 7.50 TLR1 0 genome.wustl.edu 37 4 38802411 38802411 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 38802411 38802411 G T SNP TLR1 ENST00000509754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TLR1 HGNC ENSG00000174125 tier1 - - 58 0 0.00 41 4 8.89 TMEM214 0 genome.wustl.edu 37 2 27259589 27259589 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 27259589 27259589 G A SNP TMEM214 ENST00000238788 human ensembl 74_37 +1 known missense c.843 p.M281I 1.000 pfam_DUF2359_TMEM214 pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 tier1 - - 53 0 0.00 50 4 7.41 TMEM229A 0 genome.wustl.edu 37 7 123672272 123672272 + Silent SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 123672272 123672272 G A SNP TMEM229A ENST00000455783 human ensembl 74_37 -1 known silent c.786 p.F262 0.946 NULL NULL - no_errors TMEM229A HGNC ENSG00000234224 tier1 - - 22 0 0.00 5 10 66.67 TMEM67 0 genome.wustl.edu 37 8 94794645 94794645 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 94794645 94794645 G T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.1088 p.R363M 0.998 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 tier1 - - 44 0 0.00 25 3 10.71 TMTC1 0 genome.wustl.edu 37 12 29904749 29904749 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 29904749 29904749 G T SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.464 p.S155Y 0.007 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 63 0 0.00 19 2 9.52 TNPO2 0 genome.wustl.edu 37 19 12817606 12817606 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 12817606 12817606 C T SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.1274 p.C425Y 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 tier1 - - 58 0 0.00 32 4 11.11 TRAF3IP2 0 genome.wustl.edu 37 6 111913033 111913033 + Missense_Mutation SNP T T G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 6 111913033 111913033 T G SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known missense c.284 p.Q95P 0.024 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 tier1 - - 50 0 0.00 21 5 19.23 TRIM6 0 genome.wustl.edu 37 11 5632626 5632626 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 5632626 5632626 G T SNP TRIM6 ENST00000481603 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM6 HGNC ENSG00000121236 tier1 - - 43 0 0.00 39 4 9.30 TRPA1 0 genome.wustl.edu 37 8 72984005 72984005 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 72984005 72984005 G T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.209 p.A70D 0.995 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 53 0 0.00 20 4 16.67 TRPC1 0 genome.wustl.edu 37 3 142524994 142524994 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 142524994 142524994 G T SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.2299 p.D767Y 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 34 0 0.00 18 2 10.00 TTC7B 0 genome.wustl.edu 37 14 91059894 91059894 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 91059894 91059894 G T SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.2094 p.S698R 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 tier1 - - 107 0 0.00 77 5 6.10 TTLL12 0 genome.wustl.edu 37 22 43572342 43572342 + Frame_Shift_Del DEL G G - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 22 43572342 43572342 G - DEL TTLL12 ENST00000216129 human ensembl 74_37 -1 known frame_shift_del c.901 p.H301fs 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 tier1 47 0 0.00 25 2 7.41 TTN 0 genome.wustl.edu 37 2 179440132 179440132 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 179440132 179440132 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63023 p.S21008Y 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 63 0 0.00 64 4 5.88 TXK 0 genome.wustl.edu 37 4 48088568 48088568 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 48088568 48088568 G T SNP TXK ENST00000264316 human ensembl 74_37 -1 known silent c.871 p.R291 0.997 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 70 0 0.00 56 3 5.08 UBE2K 0 genome.wustl.edu 37 4 39780194 39780194 + RNA DEL A A - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 39780194 39780194 A - DEL UBE2K ENST00000438068 human ensembl 74_37 +1 known rna NULL NULL 0.844 - - - no_errors UBE2K HGNC ENSG00000078140 tier1 41 0 0.00 25 6 19.35 UNC79 0 genome.wustl.edu 37 14 94063749 94063749 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 14 94063749 94063749 G T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.3235 p.V1079L 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 97 0 0.00 65 4 5.71 USH2A 0 genome.wustl.edu 37 1 216262423 216262423 + Missense_Mutation SNP T T G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 216262423 216262423 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4817 p.K1606T 0.063 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 102 0 0.00 115 22 16.06 UVRAG 0 genome.wustl.edu 37 11 75851874 75851874 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 75851874 75851874 G T SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.1517 p.R506L 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 54 0 0.00 45 4 8.16 VPS13B 0 genome.wustl.edu 37 8 100729456 100729456 + Missense_Mutation SNP G G A TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 100729456 100729456 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.6587 p.S2196N 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 42 0 0.00 98 13 11.71 VPS13D 0 genome.wustl.edu 37 1 12382683 12382683 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 12382683 12382683 G T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.7795 p.A2599S 0.006 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 43 0 0.00 37 4 9.76 VPS26B 0 genome.wustl.edu 37 11 134095143 134095143 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 134095143 134095143 G T SNP VPS26B ENST00000281187 human ensembl 74_37 +1 known missense c.127 p.G43W 1.000 pfam_VPS26,superfamily_Ig_E-set pfam_VPS26,superfamily_Ig_E-set - no_errors VPS26B HGNC ENSG00000151502 tier1 - - 63 0 0.00 61 4 6.15 VRK2 0 genome.wustl.edu 37 2 58358982 58358982 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 58358982 58358982 G T SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known missense c.716 p.C239F 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 55 0 0.00 35 3 7.89 VWA5B2 0 genome.wustl.edu 37 3 183955105 183955105 + Frame_Shift_Del DEL C C - TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 183955105 183955105 C - DEL VWA5B2 ENST00000426955 human ensembl 74_37 +1 known frame_shift_del c.1625 p.R544fs 0.999 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 tier1 80 0 0.00 38 2 5.00 WAPAL 0 genome.wustl.edu 37 10 88259811 88259811 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 10 88259811 88259811 G T SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known missense c.1189 p.R397S 0.996 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 29 0 0.00 17 2 10.53 WDFY3 0 genome.wustl.edu 37 4 85645675 85645675 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 85645675 85645675 G T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.7345 p.P2449T 0.995 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 43 0 0.00 36 4 10.00 WDR17 0 genome.wustl.edu 37 4 177094439 177094439 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 4 177094439 177094439 G T SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.3383 p.W1128L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 58 0 0.00 70 4 5.41 WDR26 0 genome.wustl.edu 37 1 224621665 224621665 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 224621665 224621665 G T SNP WDR26 ENST00000414423 human ensembl 74_37 -1 known nonsense c.143 p.S48* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 tier1 - - 101 0 0.00 68 5 6.85 WDR6 0 genome.wustl.edu 37 3 49050296 49050296 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 3 49050296 49050296 G T SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.1419 p.W473C 1.000 superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 53 0 0.00 28 3 9.68 WDR87 0 genome.wustl.edu 37 19 38383990 38383990 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 38383990 38383990 G T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.2353 p.H785N 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 32 0 0.00 30 4 11.76 WNK2 0 genome.wustl.edu 37 9 96051087 96051087 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 9 96051087 96051087 G T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.4162 p.D1388Y 0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 39 0 0.00 22 4 15.38 ZC3H13 0 genome.wustl.edu 37 13 46538102 46538102 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 13 46538102 46538102 G T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.4547 p.A1516D 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 33 0 0.00 29 3 9.38 ZNF252P 0 genome.wustl.edu 37 8 146202869 146202869 + RNA SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 8 146202869 146202869 G T SNP ZNF252P ENST00000426361 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF252P HGNC ENSG00000196922 tier1 - - 51 0 0.00 17 3 15.00 ZNF268 0 genome.wustl.edu 37 12 133779327 133779327 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 12 133779327 133779327 G T SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.1055 p.R352I 0.852 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 ZNF268 HGNC ENSG00000090612 39 0 0.00 31 2 6.06 ZNF408 0 genome.wustl.edu 37 11 46727347 46727347 + Silent SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 11 46727347 46727347 G T SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known silent c.2097 p.V699 0.628 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 tier1 - - 45 0 0.00 51 4 7.27 ZNF425 0 genome.wustl.edu 37 7 148800770 148800770 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 148800770 148800770 G T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.2193 p.F731L 0.948 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 tier1 - - 53 0 0.00 52 4 7.14 ZNF425 0 genome.wustl.edu 37 7 148802607 148802607 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 148802607 148802607 G T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.356 p.P119H 0.017 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 tier1 - - 27 0 0.00 31 4 11.43 ZNF473 0 genome.wustl.edu 37 19 50542467 50542467 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 50542467 50542467 G T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.59 p.W20L 0.995 pfam_Krueppel-associated_box,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 ZNF473 HGNC ENSG00000142528 tier1 - - 84 0 0.00 59 4 6.35 ZNF585B 0 genome.wustl.edu 37 19 37677678 37677678 + Missense_Mutation SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 37677678 37677678 T C SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.761 p.K254R 0.001 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 ZNF585B HGNC ENSG00000245680 tier1 - - 76 0 0.00 13 73 84.88 ZNF616 0 genome.wustl.edu 37 19 52618234 52618234 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 52618234 52618234 C T SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.2183 p.R728Q 0.010 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 ZNF616 HGNC ENSG00000204611 tier1 - - 74 0 0.00 69 10 12.66 ZNF626 0 genome.wustl.edu 37 19 20807354 20807354 + Silent SNP A A G TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 20807354 20807354 A G SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known silent c.1329 p.H443 0.941 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 ZNF626 HGNC ENSG00000188171 26 0 0.00 18 2 10.00 ZNF791 0 genome.wustl.edu 37 19 12738936 12738936 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 12738936 12738936 G T SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known missense c.593 p.S198I 0.009 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 ZNF791 HGNC ENSG00000173875 tier1 - - 69 0 0.00 53 4 6.90 ZNF835 0 genome.wustl.edu 37 19 57176549 57176549 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 57176549 57176549 G T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.18 p.S6R 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 56 0 0.00 35 3 7.89 ZNF99 0 genome.wustl.edu 37 19 22939535 22939535 + Missense_Mutation SNP T T C TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 19 22939535 22939535 T C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.2636 p.K879R 0.281 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 ZNF99 HGNC ENSG00000213973 tier1 - - 27 0 0.00 20 14 41.18 ZPBP 0 genome.wustl.edu 37 7 50022988 50022988 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 7 50022988 50022988 G T SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.911 p.P304Q 1.000 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 tier1 - - 48 0 0.00 58 4 6.45 ZRANB2 0 genome.wustl.edu 37 1 71537931 71537931 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 1 71537931 71537931 C T SNP ZRANB2 ENST00000370920 human ensembl 74_37 -1 known missense c.386 p.R129H 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 37 0 0.00 36 2 5.26 ZRANB3 0 genome.wustl.edu 37 2 135965365 135965365 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 2 135965365 135965365 G T SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.2648 p.P883Q 0.014 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 - - 34 0 0.00 25 4 13.79 ZSCAN29 0 genome.wustl.edu 37 15 43654131 43654131 + Missense_Mutation SNP C C T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f43d43-ede2-4e61-92a5-65c708c460f0 4cef956a-252e-480d-a8ee-a8c56dda0e61 15 43654131 43654131 C T SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.1699 p.A567T 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 tier1 - - 26 0 0.00 14 3 17.65