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 ABCA12 0 genome.wustl.edu 37 2 215848404 215848404 + Nonsense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 215848404 215848404 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known nonsense c.4349 p.W1450* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 49 0 0.00 25 31 55.36 ABCD3 0 genome.wustl.edu 37 1 94930395 94930395 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 94930395 94930395 T C SNP ABCD3 ENST00000454898 human ensembl 74_37 +1 known missense c.284 p.L95P 1.000 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 tier1 - - 59 0 0.00 51 4 7.27 ACSBG2 0 genome.wustl.edu 37 19 6147599 6147599 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 6147599 6147599 C T SNP ACSBG2 ENST00000252669 human ensembl 74_37 +1 known silent c.210 p.L70 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 tier1 - - 49 0 0.00 54 6 10.00 ADAMTS13 0 genome.wustl.edu 37 9 136298771 136298771 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 136298771 136298771 G A SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.1255 p.G419R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 tier1 - - 68 0 0.00 34 15 30.61 ADAMTS16 0 genome.wustl.edu 37 5 5242181 5242181 + Silent SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 5242181 5242181 A C SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.2539 p.R847 0.842 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 69 0 0.00 48 13 21.31 ADAMTSL1 0 genome.wustl.edu 37 9 18777699 18777699 + Nonsense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 18777699 18777699 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel nonsense c.3472 p.R1158* 0.299 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 55 0 0.00 21 16 43.24 ADCY1 0 genome.wustl.edu 37 7 45743226 45743226 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 45743226 45743226 G T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.2599 p.V867L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 63 0 0.00 51 3 5.56 AK8 0 genome.wustl.edu 37 9 135602886 135602886 + Missense_Mutation SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 135602886 135602886 A G SNP AK8 ENST00000298545 human ensembl 74_37 -1 known missense c.1157 p.M386T 0.006 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 51 0 0.00 32 2 5.88 ALMS1P 0 genome.wustl.edu 37 2 73900975 73900975 + RNA SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 73900975 73900975 C T SNP ALMS1P ENST00000450720 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors ALMS1P HGNC ENSG00000163016 58 0 0.00 48 3 5.88 ALPL 0 genome.wustl.edu 37 1 21902315 21902315 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 21902315 21902315 G A SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.1087 p.G363S 0.583 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 ALPL HGNC ENSG00000162551 tier1 - - 58 0 0.00 58 5 7.94 AMIGO2 0 genome.wustl.edu 37 12 47471279 47471279 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 47471279 47471279 T C SNP AMIGO2 ENST00000266581 human ensembl 74_37 -1 known missense c.1507 p.K503E 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO2 HGNC ENSG00000139211 tier1 - - 29 0 0.00 26 8 23.53 ANKRD36C 0 genome.wustl.edu 37 2 96578003 96578003 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 96578003 96578003 G A SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known missense c.2642 p.T881I 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 250 0 0.00 124 56 30.94 ANKS3 0 genome.wustl.edu 37 16 4750723 4750723 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 16 4750723 4750723 G T SNP ANKS3 ENST00000450067 human ensembl 74_37 -1 known missense c.914 p.P305H 0.008 NULL NULL - no_errors ANKS3 HGNC ENSG00000168096 tier1 - - 38 0 0.00 28 4 12.50 AOX1 0 genome.wustl.edu 37 2 201476191 201476191 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 201476191 201476191 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.1238 p.S413L 1.000 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 50 0 0.00 50 4 7.41 AP3D1 0 genome.wustl.edu 37 19 2111747 2111747 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 2111747 2111747 C T SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known silent c.2868 p.Q956 0.025 pfam_BLV_receptor,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 tier1 - - 59 0 0.00 26 8 23.53 APBB1IP 0 genome.wustl.edu 37 10 26825011 26825011 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 26825011 26825011 C A SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known missense c.909 p.F303L 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 tier1 - - 37 0 0.00 29 16 35.56 ARHGAP32 0 genome.wustl.edu 37 11 128844131 128844131 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 128844131 128844131 T G SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.2919 p.E973D 0.317 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 32 0 0.00 20 18 47.37 BAIAP2 0 genome.wustl.edu 37 17 79077394 79077394 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 79077394 79077394 G A SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known silent c.735 p.Q245 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 tier1 - - 12 0 0.00 12 7 36.84 BAZ2B 0 genome.wustl.edu 37 2 160289805 160289805 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 160289805 160289805 T G SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.1363 p.I455L 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 65 0 0.00 53 19 26.39 BIRC6 0 genome.wustl.edu 37 2 32695336 32695336 + Nonsense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 32695336 32695336 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known nonsense c.6448 p.Q2150* 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 56 0 0.00 57 5 8.06 BRAT1 0 genome.wustl.edu 37 7 2579269 2579269 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 2579269 2579269 G A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known silent c.1506 p.F502 0.538 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 tier1 - - 67 0 0.00 125 9 6.72 BTN3A1 0 genome.wustl.edu 37 6 26413697 26413697 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 26413697 26413697 A C SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.1319 p.K440T 0.002 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 - - 75 0 0.00 51 14 21.54 C10orf12 0 genome.wustl.edu 37 10 98741294 98741294 + Missense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 98741294 98741294 C G SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.147 p.N49K 0.002 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 tier1 - - 30 0 0.00 14 9 39.13 C11orf40 0 genome.wustl.edu 37 11 4592706 4592706 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 4592706 4592706 T C SNP C11orf40 ENST00000307616 human ensembl 74_37 -1 known missense c.601 p.M201V 0.001 NULL NULL - no_errors C11orf40 HGNC ENSG00000171987 75 0 0.00 84 6 6.67 C14orf37 0 genome.wustl.edu 37 14 58583052 58583052 + RNA SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 14 58583052 58583052 C A SNP C14orf37 ENST00000334342 human ensembl 74_37 -1 known rna NULL NULL 0.107 - - - no_errors C14orf37 HGNC ENSG00000139971 tier1 - - 41 0 0.00 33 18 35.29 C18orf63 0 genome.wustl.edu 37 18 72020590 72020590 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 18 72020590 72020590 C T SNP C18orf63 ENST00000579455 human ensembl 74_37 +1 known missense c.1088 p.S363L 0.011 NULL NULL - no_errors C18orf63 HGNC ENSG00000206043 tier1 - - 68 0 0.00 36 4 10.00 C1QB 0 genome.wustl.edu 37 1 22987762 22987762 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 22987762 22987762 G T SNP C1QB ENST00000314933 human ensembl 74_37 +1 known missense c.645 p.K215N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QB HGNC ENSG00000173369 28 0 0.00 29 3 9.38 C20orf173 0 genome.wustl.edu 37 20 34116711 34116711 + Missense_Mutation SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 20 34116711 34116711 G C SNP C20orf173 ENST00000246199 human ensembl 74_37 -1 known missense c.148 p.Q50E 0.675 NULL NULL - no_errors C20orf173 HGNC ENSG00000125975 tier1 - - 49 0 0.00 36 29 44.62 C2CD2L 0 genome.wustl.edu 37 11 118984833 118984833 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 118984833 118984833 C T SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.1670 p.A557V 0.992 NULL superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 32 0 0.00 27 2 6.90 CACNA1E 0 genome.wustl.edu 37 1 181701790 181701790 + Silent SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 181701790 181701790 C A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.2568 p.L856 0.987 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 55 0 0.00 64 5 7.25 CASP8AP2 0 genome.wustl.edu 37 6 90567030 90567030 + RNA DEL T T - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 90567030 90567030 T - DEL CASP8AP2 ENST00000444163 human ensembl 74_37 +1 known rna NULL NULL 0.228 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 31 0 0.00 30 7 18.92 CCDC159 0 genome.wustl.edu 37 19 11461552 11461552 + Nonsense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 11461552 11461552 C T SNP CCDC159 ENST00000458408 human ensembl 74_37 +1 known nonsense c.295 p.Q99* 0.973 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 101 0 0.00 76 4 5.00 CCDC175 0 genome.wustl.edu 37 14 59998581 59998583 + In_Frame_Del DEL TTC TTC - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 14 59998581 59998583 TTC - DEL CCDC175 ENST00000281581 human ensembl 74_37 -1 known in_frame_del c.1671_1669 p.E557in_frame_del 0.000:0.007:0.006 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 69 0 0.00 32 22 40.74 CDK19 0 genome.wustl.edu 37 6 110948026 110948026 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 110948026 110948026 T G SNP CDK19 ENST00000368911 human ensembl 74_37 -1 known missense c.813 p.R271S 0.999 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK19 HGNC ENSG00000155111 tier1 - - 39 0 0.00 46 4 8.00 CDKN2A 0 genome.wustl.edu 37 9 21971016 21971016 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 21971016 21971016 G T SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.508 p.R170S 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 61 0 0.00 35 2 5.41 CEP112 0 genome.wustl.edu 37 17 63632093 63632093 + Splice_Site SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 63632093 63632093 C A SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known splice_site c.2865-1 e26-1 1.000 - - - no_errors CEP112 HGNC ENSG00000154240 45 0 0.00 66 4 5.71 CEP170B 0 genome.wustl.edu 37 14 105349067 105349067 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 14 105349067 105349067 G A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.475 p.A159T 0.815 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 87 0 0.00 75 4 5.06 CHAMP1 0 genome.wustl.edu 37 13 115090302 115090302 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 13 115090302 115090302 G T SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known missense c.985 p.A329S 0.012 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 33 0 0.00 53 3 5.36 CHRM2 0 genome.wustl.edu 37 7 136700024 136700024 + Nonsense_Mutation SNP A A T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 136700024 136700024 A T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known nonsense c.412 p.K138* 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 24 0 0.00 23 2 8.00 CLCA3P 0 genome.wustl.edu 37 1 87120149 87120149 + RNA SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 87120149 87120149 A G SNP CLCA3P ENST00000466454 human ensembl 74_37 +1 known rna NULL NULL 0.130 - - - no_errors CLCA3P HGNC ENSG00000153923 tier1 - - 66 0 0.00 53 4 7.02 CLDN18 0 genome.wustl.edu 37 3 137742603 137742603 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 137742603 137742603 C T SNP CLDN18 ENST00000183605 human ensembl 74_37 +1 known silent c.324 p.S108 0.994 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 tier1 - - 29 0 0.00 34 4 10.53 CNNM4 0 genome.wustl.edu 37 2 97427930 97427930 + Silent SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 97427930 97427930 G T SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known silent c.1194 p.S398 0.281 NULL pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 tier1 - - 51 0 0.00 47 4 7.84 CNRIP1 0 genome.wustl.edu 37 2 68544421 68544421 + Silent SNP A A T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 68544421 68544421 A T SNP CNRIP1 ENST00000263655 human ensembl 74_37 -1 known silent c.198 p.G66 0.984 NULL NULL - no_errors CNRIP1 HGNC ENSG00000119865 tier1 - - 70 0 0.00 74 4 5.13 CNTN5 0 genome.wustl.edu 37 11 99715909 99715909 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 99715909 99715909 A C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.492 p.E164D 0.472 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 53 0 0.00 34 23 40.35 COG5 0 genome.wustl.edu 37 7 106888946 106888947 + Splice_Site INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 106888946 106888947 - A INS COG5 ENST00000297135 human ensembl 74_37 -1 known splice_site_ins c.1843-3_1843-2 e17-2 0.987:0.017 - - - no_errors COG5 HGNC ENSG00000164597 tier1 27 0 0.00 27 3 10.00 COL19A1 0 genome.wustl.edu 37 6 70894771 70894771 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 70894771 70894771 G T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.2820 p.M940I 0.930 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 89 0 0.00 71 4 5.33 COL4A6 0 genome.wustl.edu 37 X 107413219 107413219 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 107413219 107413219 C A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.3524 p.G1175V 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 49 0 0.00 24 42 63.64 COL7A1 0 genome.wustl.edu 37 3 48623646 48623646 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 48623646 48623646 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.3584 p.A1195V 1.000 pfam_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 59 0 0.00 33 4 10.81 COX7C 0 genome.wustl.edu 37 5 85913914 85913914 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 85913914 85913914 C T SNP COX7C ENST00000247655 human ensembl 74_37 +1 known silent c.42 p.V14 0.999 pfam_COX7C/Cox8 pfam_COX7C/Cox8,superfamily_COX7C/Cox8 - no_errors COX7C HGNC ENSG00000127184 tier1 - - 75 0 0.00 50 7 12.28 CPA4 0 genome.wustl.edu 37 7 129933071 129933071 + Silent SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 129933071 129933071 C A SNP CPA4 ENST00000222482 human ensembl 74_37 +1 known silent c.51 p.G17 0.114 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 tier1 - - 78 0 0.00 61 4 6.15 CSAD 0 genome.wustl.edu 37 12 53567224 53567224 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 53567224 53567224 C A SNP CSAD ENST00000267085 human ensembl 74_37 -1 known missense c.112 p.A38S 0.253 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors CSAD HGNC ENSG00000139631 tier1 - - 44 0 0.00 24 5 17.24 CTNND2 0 genome.wustl.edu 37 5 11732320 11732320 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 11732320 11732320 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.102 p.G34 0.998 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 80 0 0.00 87 8 8.42 CUBN 0 genome.wustl.edu 37 10 16980995 16980995 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 16980995 16980995 T G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.5700 p.E1900D 0.753 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 103 0 0.00 102 33 24.44 CUX1 0 genome.wustl.edu 37 7 101556679 101556679 + RNA SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 101556679 101556679 G T SNP CUX1 ENST00000560541 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors CUX1 HGNC ENSG00000257923 tier1 - - 105 0 0.00 116 12 9.38 CXorf67 0 genome.wustl.edu 37 X 51150037 51150037 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 51150037 51150037 G A SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.169 p.G57S 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 tier1 - - 27 0 0.00 8 37 82.22 CYBRD1 0 genome.wustl.edu 37 2 172409989 172409989 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 172409989 172409989 C T SNP CYBRD1 ENST00000321348 human ensembl 74_37 +1 known missense c.536 p.T179I 1.000 pfam_Cyt_b561_euk,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYBRD1 HGNC ENSG00000071967 tier1 - - 59 0 0.00 55 4 6.78 CYP2G1P 0 genome.wustl.edu 37 19 41399821 41399821 + RNA SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 41399821 41399821 G T SNP CYP2G1P ENST00000252909 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP2G1P HGNC ENSG00000130612 tier1 - - 28 0 0.00 23 8 25.81 DACT1 0 genome.wustl.edu 37 14 59113546 59113546 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 14 59113546 59113546 C T SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.2205 p.H735 1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 tier1 - - 63 0 0.00 68 4 5.56 DCAF7 0 genome.wustl.edu 37 17 61666411 61666411 + Silent SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 61666411 61666411 C A SNP DCAF7 ENST00000310827 human ensembl 74_37 +1 known silent c.906 p.A302 1.000 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 DCAF7 HGNC ENSG00000136485 tier1 - - 44 0 0.00 47 4 7.84 DCLRE1C 0 genome.wustl.edu 37 10 14974898 14974898 + Silent SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 14974898 14974898 G C SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known silent c.735 p.L245 0.994 pfam_DRMBL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 60 0 0.00 44 17 27.87 DENND4B 0 genome.wustl.edu 37 1 153916619 153916619 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 153916619 153916619 C T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.232 p.E78K 1.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 65 0 0.00 71 11 13.25 DNAH2 0 genome.wustl.edu 37 17 7721353 7721353 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 7721353 7721353 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.10326 p.N3442 0.043 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 82 0 0.00 62 16 20.51 DNAH5 0 genome.wustl.edu 37 5 13776619 13776619 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 13776619 13776619 T C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9302 p.K3101R 1.000 superfamily_P-loop_NTPase 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 - - 40 0 0.00 21 11 34.38 DNAH7 0 genome.wustl.edu 37 2 196718231 196718232 + Frame_Shift_Ins INS - - T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 196718231 196718232 - T INS DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_ins c.8617_8616 p.L2872fs 1.000:1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 27 0 0.00 26 5 16.13 DNAH7 0 genome.wustl.edu 37 2 196723220 196723220 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 196723220 196723220 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.8045 p.A2682V 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 31 0 0.00 33 12 26.67 DNAJB6 0 genome.wustl.edu 37 7 157151249 157151249 + RNA SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 157151249 157151249 C T SNP DNAJB6 ENST00000486083 human ensembl 74_37 +1 known rna NULL NULL 0.150 - - - no_errors DNAJB6 HGNC ENSG00000105993 tier1 - - 55 0 0.00 38 4 9.52 DOCK1 0 genome.wustl.edu 37 10 129207590 129207590 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 129207590 129207590 C T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known silent c.4215 p.F1405 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 62 0 0.00 59 5 7.81 DUSP10 0 genome.wustl.edu 37 1 221875662 221875662 + RNA DEL A A - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 221875662 221875662 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 32 0 0.00 20 3 13.04 EEFSEC 0 genome.wustl.edu 37 3 128060137 128060137 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 128060137 128060137 G T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.848 p.G283V 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 tier1 - - 52 0 0.00 60 4 6.25 EIF4G1 0 genome.wustl.edu 37 3 184041274 184041274 + Nonsense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 184041274 184041274 G T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known nonsense c.2188 p.E730* 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 26 0 0.00 33 2 5.71 ELFN2 0 genome.wustl.edu 37 22 37771876 37771877 + RNA INS - - CCT TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 22 37771876 37771877 - CCT INS ELFN2 ENST00000414347 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.043 - - - no_errors ELFN2 HGNC ENSG00000166897 tier1 15 0 0.00 10 3 23.08 ELMO1 0 genome.wustl.edu 37 7 37354505 37354505 + Silent SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 37354505 37354505 T C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known silent c.141 p.E47 0.142 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 41 0 0.00 52 5 8.77 EMP1 0 genome.wustl.edu 37 12 13364426 13364427 + RNA INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 13364426 13364427 - A INS EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EMP1 HGNC ENSG00000134531 tier1 44 0 0.00 52 6 10.34 ENSG00000145965 0 genome.wustl.edu 37 6 3983532 3983533 + Frame_Shift_Ins INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 3983532 3983533 - A INS ENSG00000145965 ENST00000356722 human ensembl 74_37 +1 known frame_shift_ins c.131_132 p.M46fs 0.036:0.050 NULL NULL - no_errors C6ORF50 Uniprot_gn ENSG00000145965 tier1 33 0 0.00 25 11 30.56 ENSG00000181495 0 genome.wustl.edu 37 5 32789565 32789565 + Silent SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 32789565 32789565 T C SNP ENSG00000181495 ENST00000326958 human ensembl 74_37 +1 novel silent c.58 p.L20 0.000 NULL NULL - no_errors AC026703.1 Clone_based_ensembl_gene ENSG00000181495 tier1 - - 42 0 0.00 35 11 23.91 ENSG00000188850 0 genome.wustl.edu 37 5 43348816 43348817 + RNA INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 43348816 43348817 - A INS ENSG00000188850 ENST00000511991 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors RP11-159F24.2 Clone_based_vega_gene ENSG00000188850 tier1 17 0 0.00 22 4 15.38 ENSG00000188850 0 genome.wustl.edu 37 5 43348817 43348817 + RNA DEL A A - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 43348817 43348817 A - DEL ENSG00000188850 ENST00000511991 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-159F24.2 Clone_based_vega_gene ENSG00000188850 tier1 17 0 0.00 23 4 14.81 ENSG00000214043 0 genome.wustl.edu 37 12 126947300 126947300 + RNA SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 126947300 126947300 C T SNP ENSG00000214043 ENST00000397346 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-944M2.3 Clone_based_vega_gene ENSG00000214043 tier1 - - 70 0 0.00 60 4 6.25 ENSG00000215983 0 genome.wustl.edu 37 15 59508891 59508894 + RNA DEL ACAC ACAC - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 15 59508891 59508894 ACAC - DEL ENSG00000215983 ENST00000401164 human ensembl 74_37 +1 novel rna NULL NULL 0.012:0.013:0.017:0.004 - - - no_errors AC092756.1 Clone_based_ensembl_gene ENSG00000215983 tier1 8 0 0.00 1 3 75.00 ENSG00000223759 0 genome.wustl.edu 37 1 149673265 149673265 + RNA SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 149673265 149673265 C G SNP ENSG00000223759 ENST00000443602 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-353N4.4 Clone_based_vega_gene ENSG00000223759 tier1 - - 19 0 0.00 14 5 26.32 ENSG00000242628 0 genome.wustl.edu 37 2 24443832 24443832 + Splice_Site SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 24443832 24443832 G T SNP ENSG00000242628 ENST00000430105 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.980 - - - no_errors AC009228.1 Clone_based_vega_gene ENSG00000242628 tier1 - - 34 0 0.00 17 8 32.00 ENSG00000257743 0 genome.wustl.edu 37 7 141883081 141883081 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 141883081 141883081 G A SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.3832 p.G1278S 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 71 0 0.00 52 10 16.13 ENSG00000260411 0 genome.wustl.edu 37 16 5289852 5289854 + RNA DEL TCC TCC - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 16 5289852 5289854 TCC 0 DEL ENSG00000260411 ENST00000569895 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002:0.003 - - - no_errors RP11-420N3.2 Clone_based_vega_gene ENSG00000260411 27 0 0.00 20 6 23.08 ENSG00000261863 0 genome.wustl.edu 37 17 4513974 4513975 + RNA INS - - AAAG TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 4513974 4513975 - AAAG INS ENSG00000261863 ENST00000573270 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.005 - - - no_errors RP11-141J13.5 Clone_based_vega_gene ENSG00000261863 tier1 13 0 0.00 6 7 53.85 ENSG00000272710 0 genome.wustl.edu 37 3 75589344 75589344 + RNA SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 75589344 75589344 T G SNP ENSG00000272710 ENST00000608389 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors CTD-2026G6.3 Clone_based_vega_gene ENSG00000272710 tier1 - - 15 0 0.00 6 10 62.50 ENSG00000273471 0 genome.wustl.edu 37 2 111144211 111144211 + RNA SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 111144211 111144211 G A SNP ENSG00000273471 ENST00000488671 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP13-1039J1.4 Clone_based_vega_gene ENSG00000273471 24 0 0.00 26 3 10.34 ENSG00000273471 0 genome.wustl.edu 37 2 111144214 111144214 + RNA SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 111144214 111144214 G A SNP ENSG00000273471 ENST00000488671 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP13-1039J1.4 Clone_based_vega_gene ENSG00000273471 26 0 0.00 26 3 10.34 EPHA5 0 genome.wustl.edu 37 4 66467875 66467875 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 66467875 66467875 A C SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.394 p.F132V 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 60 0 0.00 31 28 47.46 EYS 0 genome.wustl.edu 37 6 66094313 66094313 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 66094313 66094313 T G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1265 p.E422A 1.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 33 0 0.00 20 13 39.39 FAM107B 0 genome.wustl.edu 37 10 14572365 14572365 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 14572365 14572365 C T SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known missense c.619 p.D207N 1.000 pfam_DUF1151 pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 tier1 - - 33 0 0.00 33 11 25.00 FAM230C 0 genome.wustl.edu 37 22 21663211 21663212 + RNA INS - - ATTA TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 22 21663211 21663212 - ATTA INS FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 38 0 0.00 15 4 21.05 FAM63A 0 genome.wustl.edu 37 1 150975149 150975149 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 150975149 150975149 T C SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known missense c.89 p.Q30R 0.005 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 tier1 - - 49 0 0.00 65 4 5.80 FANCD2 0 genome.wustl.edu 37 3 10108990 10108990 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 10108990 10108990 A C SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.2483 p.K828T 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 tier1 - - 33 0 0.00 12 7 36.84 FANCD2 0 genome.wustl.edu 37 3 10108913 10108913 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 10108913 10108913 G T SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.2406 p.Q802H 0.852 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 27 0 0.00 16 3 15.79 FATE1 0 genome.wustl.edu 37 X 150885855 150885855 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 150885855 150885855 C A SNP FATE1 ENST00000370350 human ensembl 74_37 +1 known missense c.218 p.T73N 0.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 tier1 - - 45 0 0.00 49 4 7.55 FBLIM1 0 genome.wustl.edu 37 1 16101328 16101328 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 16101328 16101328 G A SNP FBLIM1 ENST00000441801 human ensembl 74_37 +1 known silent c.927 p.G309 0.001 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 tier1 - - 38 0 0.00 34 4 10.53 FBN2 0 genome.wustl.edu 37 5 127614390 127614390 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 127614390 127614390 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7282 p.P2428S 1.000 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 38 0 0.00 25 12 32.43 FGF1 0 genome.wustl.edu 37 5 141974991 141974991 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 141974991 141974991 G A SNP FGF1 ENST00000337706 human ensembl 74_37 -1 known missense c.332 p.T111I 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF1 HGNC ENSG00000113578 tier1 - - 59 0 0.00 36 13 26.53 FLG2 0 genome.wustl.edu 37 1 152329098 152329098 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 152329098 152329098 G T SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.1164 p.S388R 0.085 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 79 0 0.00 70 4 5.41 FLRT2 0 genome.wustl.edu 37 14 86092223 86092223 + RNA SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 14 86092223 86092223 T C SNP FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 38 0 0.00 14 10 41.67 FLT4 0 genome.wustl.edu 37 5 180058729 180058729 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 180058729 180058729 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.108 p.E36 0.993 smart_Ig_sub,pfscan_Ig-like_dom,prints_VEGFR3_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 143 0 0.00 111 15 11.81 FOLH1B 0 genome.wustl.edu 37 11 89378298 89378298 + RNA SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 89378298 89378298 T A SNP FOLH1B ENST00000531315 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 112 0 0.00 68 37 35.24 FREM2 0 genome.wustl.edu 37 13 39264447 39264447 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 13 39264447 39264447 C A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.2966 p.P989H 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 40 0 0.00 44 4 8.33 FSIP2 0 genome.wustl.edu 37 2 186673392 186673392 + Silent SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 186673392 186673392 A G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.19626 p.K6542 0.918 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 71 0 0.00 42 11 20.75 GAMT 0 genome.wustl.edu 37 19 1398833 1398833 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 1398833 1398833 G T SNP GAMT ENST00000447102 human ensembl 74_37 -1 known missense c.652 p.L218I 0.000 NULL NULL - no_errors GAMT HGNC ENSG00000130005 tier1 - - 55 0 0.00 52 4 7.14 GAPDHS 0 genome.wustl.edu 37 19 36033272 36033272 + Silent SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 36033272 36033272 G T SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known silent c.501 p.V167 0.761 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,tigrfam_Glyceraldehyde-3-P_DH_1 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 tier1 - - 39 0 0.00 38 4 9.52 GDA 0 genome.wustl.edu 37 9 74842874 74842874 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 74842874 74842874 G A SNP GDA ENST00000238018 human ensembl 74_37 +1 known missense c.838 p.G280S 1.000 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 tier1 - - 25 0 0.00 19 5 20.83 GLP2R 0 genome.wustl.edu 37 17 9745841 9745841 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 9745841 9745841 T G SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.412 p.L138V 0.099 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 tier1 - - 33 0 0.00 29 9 23.68 GMEB1 0 genome.wustl.edu 37 1 29041385 29041386 + RNA INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 29041385 29041386 - A INS GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.437:0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 tier1 32 0 0.00 35 7 16.67 GOLGA2 0 genome.wustl.edu 37 9 131030440 131030440 + Splice_Site SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 131030440 131030440 C G SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known splice_site c.313-1 e4-1 0.996 - - - no_errors GOLGA2 HGNC ENSG00000167110 tier1 - - 41 0 0.00 33 8 19.51 GPR133 0 genome.wustl.edu 37 12 131488770 131488770 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 131488770 131488770 C T SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1184 p.S395F 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 tier1 - - 58 0 0.00 42 22 34.38 GPR144 0 genome.wustl.edu 37 9 127213444 127213444 + Frame_Shift_Del DEL G G - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 127213444 127213444 G - DEL GPR144 ENST00000334810 human ensembl 74_37 +1 known frame_shift_del c.22 p.E9fs 0.000 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 tier1 43 0 0.00 31 2 6.06 GPRC5A 0 genome.wustl.edu 37 12 13061392 13061392 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 13061392 13061392 T C SNP GPRC5A ENST00000014914 human ensembl 74_37 +1 known missense c.209 p.L70P 0.995 pfam_GPCR_3_C pfam_GPCR_3_C - no_errors GPRC5A HGNC ENSG00000013588 tier1 - - 56 0 0.00 48 4 7.69 GRIK3 0 genome.wustl.edu 37 1 37356630 37356630 + Silent SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 37356630 37356630 T G SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.183 p.R61 0.998 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 GRIK3 HGNC ENSG00000163873 tier1 - - 78 0 0.00 46 26 36.11 GSN 0 genome.wustl.edu 37 9 124093675 124093675 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 124093675 124093675 T C SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.2128 p.W710R 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 42 0 0.00 48 4 7.69 GTF2IRD1 0 genome.wustl.edu 37 7 73971992 73971992 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 73971992 73971992 C T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.2092 p.R698W 0.865 superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 41 0 0.00 53 3 5.36 GUCY1B2 0 genome.wustl.edu 37 13 51568781 51568781 + RNA SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 13 51568781 51568781 C T SNP GUCY1B2 ENST00000493639 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GUCY1B2 HGNC ENSG00000123201 tier1 - - 25 0 0.00 16 4 20.00 GYS1 0 genome.wustl.edu 37 19 49490517 49490517 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 49490517 49490517 C T SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known silent c.426 p.P142 0.892 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 tier1 - - 76 0 0.00 34 28 45.16 HAUS3 0 genome.wustl.edu 37 4 2240640 2240640 + Missense_Mutation SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 2240640 2240640 A G SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known missense c.1040 p.L347S 0.989 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 64 0 0.00 49 4 7.55 HERC4 0 genome.wustl.edu 37 10 69804297 69804297 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 69804297 69804297 G T SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.250 p.Q84K 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 68 0 0.00 63 5 7.35 HIST1H1D 0 genome.wustl.edu 37 6 26234761 26234761 + Missense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 26234761 26234761 C G SNP HIST1H1D ENST00000244534 human ensembl 74_37 -1 known missense c.401 p.G134A 0.011 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1D HGNC ENSG00000124575 tier1 - - 51 0 0.00 39 4 9.30 HMCN1 0 genome.wustl.edu 37 1 186007987 186007987 + Missense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 186007987 186007987 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.5878 p.L1960V 0.899 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 53 0 0.00 41 4 8.89 HTATSF1 0 genome.wustl.edu 37 X 135591328 135591330 + In_Frame_Del DEL CTT CTT - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 135591328 135591330 CTT - DEL HTATSF1 ENST00000218364 human ensembl 74_37 +1 known in_frame_del c.913_915 p.L306in_frame_del 1.000:1.000:0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 tier1 30 0 0.00 29 16 35.56 HTR1E 0 genome.wustl.edu 37 6 87725772 87725772 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 87725772 87725772 G T SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.720 p.Q240H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 27 0 0.00 22 3 12.00 IAH1 0 genome.wustl.edu 37 2 9618381 9618381 + Splice_Site SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 9618381 9618381 A G SNP IAH1 ENST00000492223 human ensembl 74_37 +1 known splice_site c.82-2 e2-2 0.979 - - - no_errors IAH1 HGNC ENSG00000134330 74 0 0.00 72 4 5.26 ING1 0 genome.wustl.edu 37 13 111372025 111372025 + Nonsense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 13 111372025 111372025 C T SNP ING1 ENST00000375774 human ensembl 74_37 +1 known nonsense c.1015 p.R339* 0.949 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 tier1 - - 23 0 0.00 10 9 47.37 INPP5B 0 genome.wustl.edu 37 1 38355337 38355337 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 38355337 38355337 G A SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known missense c.929 p.S310L 0.472 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 tier1 - - 46 0 0.00 47 4 7.84 IQCA1 0 genome.wustl.edu 37 2 237246938 237246938 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 237246938 237246938 G A SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.2044 p.R682W 0.001 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 tier1 - - 73 0 0.00 60 4 6.25 ITCH 0 genome.wustl.edu 37 20 33000369 33000369 + Missense_Mutation SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 20 33000369 33000369 G C SNP ITCH ENST00000262650 human ensembl 74_37 +1 known missense c.261 p.Q87H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors ITCH HGNC ENSG00000078747 tier1 - - 56 0 0.00 57 18 24.00 KCNF1 0 genome.wustl.edu 37 2 11053168 11053168 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 11053168 11053168 G A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.616 p.E206K 1.000 prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 tier1 - - 61 0 0.00 32 6 15.79 KCNT2 0 genome.wustl.edu 37 1 196250003 196250003 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 196250003 196250003 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2897 p.L966R 0.977 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 61 0 0.00 44 12 21.43 KIAA1244 0 genome.wustl.edu 37 6 138599613 138599613 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 138599613 138599613 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.2154 p.D718 0.000 superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 36 0 0.00 33 4 10.81 KIAA2026 0 genome.wustl.edu 37 9 5922828 5922828 + Silent SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 5922828 5922828 G T SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel silent c.3168 p.T1056 0.639 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 - - 61 0 0.00 46 4 8.00 KIF9 0 genome.wustl.edu 37 3 47284565 47284565 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 47284565 47284565 G A SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.1685 p.P562L 0.879 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 tier1 rs201012739 - 51 0 0.00 33 23 41.07 KLHL15 0 genome.wustl.edu 37 X 24006110 24006110 + Missense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 24006110 24006110 C G SNP KLHL15 ENST00000328046 human ensembl 74_37 -1 known missense c.1743 p.K581N 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 tier1 - - 30 0 0.00 16 23 58.97 KLHL26 0 genome.wustl.edu 37 19 18779956 18779956 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 18779956 18779956 G A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known silent c.1749 p.T583 0.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 tier1 - - 112 0 0.00 74 25 25.25 KMO 0 genome.wustl.edu 37 1 241714280 241714280 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 241714280 241714280 G A SNP KMO ENST00000366559 human ensembl 74_37 +1 known missense c.248 p.R83K 1.000 pfam_mOase_FAD-bd pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 tier1 - - 84 0 0.00 55 4 6.78 KRT27 0 genome.wustl.edu 37 17 38936058 38936058 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 38936058 38936058 G A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.740 p.A247V 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 39 0 0.00 31 2 6.06 KRT6B 0 genome.wustl.edu 37 12 52845660 52845660 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 52845660 52845660 T C SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.203 p.K68R 0.999 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 tier1 - - 119 0 0.00 110 11 9.09 KRTAP26-1 0 genome.wustl.edu 37 21 31692195 31692195 + Silent SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 21 31692195 31692195 T C SNP KRTAP26-1 ENST00000360542 human ensembl 74_37 -1 known silent c.159 p.T53 0.206 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 tier1 - - 44 0 0.00 39 21 35.00 LAMA2 0 genome.wustl.edu 37 6 129635907 129635907 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 129635907 129635907 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.3519 p.T1173 0.103 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 rs141150540 - 45 0 0.00 47 4 7.84 LDLR 0 genome.wustl.edu 37 19 11231050 11231050 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 11231050 11231050 G A SNP LDLR ENST00000558518 human ensembl 74_37 +1 known silent c.1992 p.V664 0.012 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 tier1 - - 49 0 0.00 41 11 21.15 LIPM 0 genome.wustl.edu 37 10 90579988 90579988 + Splice_Site SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 90579988 90579988 G T SNP LIPM ENST00000404743 human ensembl 74_37 +1 known splice_site c.1003-1 e9-1 1.000 - - - no_errors LIPM HGNC ENSG00000173239 tier1 - - 27 0 0.00 22 3 12.00 LPCAT1 0 genome.wustl.edu 37 5 1470999 1470999 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 1470999 1470999 G A SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.1220 p.A407V 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 101 0 0.00 72 4 5.26 LRP1B 0 genome.wustl.edu 37 2 141607790 141607790 + Missense_Mutation SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 141607790 141607790 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4820 p.D1607V 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 66 0 0.00 59 15 20.00 LRRC14 0 genome.wustl.edu 37 8 145746623 145746623 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 145746623 145746623 C T SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.1243 p.R415W 0.005 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 51 0 0.00 57 3 5.00 LRRC53 0 genome.wustl.edu 37 1 74940984 74940984 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 74940984 74940984 G T SNP LRRC53 ENST00000294635 human ensembl 74_37 -1 novel missense c.1415 p.T472K 0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 tier1 - - 40 0 0.00 37 5 11.90 MAGEB3 0 genome.wustl.edu 37 X 30254368 30254368 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 30254368 30254368 C T SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known silent c.327 p.D109 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 tier1 - - 19 0 0.00 11 21 65.62 MAGOH 0 genome.wustl.edu 37 1 53692677 53692677 + RNA SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 53692677 53692677 C A SNP MAGOH ENST00000495868 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MAGOH HGNC ENSG00000162385 tier1 - - 119 0 0.00 65 45 40.91 MBD5 0 genome.wustl.edu 37 2 149241395 149241395 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 149241395 149241395 G T SNP MBD5 ENST00000404807 human ensembl 74_37 +1 novel missense c.3235 p.A1079S 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 tier1 - - 68 0 0.00 32 11 25.58 MBNL1 0 genome.wustl.edu 37 3 152132832 152132832 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 152132832 152132832 A C SNP MBNL1 ENST00000282486 human ensembl 74_37 +1 known missense c.277 p.M93L 1.000 NULL smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 tier1 - - 76 0 0.00 59 25 29.41 MCPH1 0 genome.wustl.edu 37 8 6357421 6357421 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 6357421 6357421 G A SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.2185 p.E729K 1.000 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 tier1 - - 82 0 0.00 65 23 26.14 MEA1 0 genome.wustl.edu 37 6 42980731 42980731 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 42980731 42980731 C T SNP MEA1 ENST00000244711 human ensembl 74_37 -1 known silent c.339 p.E113 1.000 pfam_MEA1 pfam_MEA1 - no_errors MEA1 HGNC ENSG00000124733 tier1 - - 55 0 0.00 42 7 14.29 MED16 0 genome.wustl.edu 37 19 885801 885801 + Missense_Mutation SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 885801 885801 A G SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.848 p.L283P 1.000 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 tier1 - - 58 0 0.00 40 5 11.11 MFSD9 0 genome.wustl.edu 37 2 103335284 103335284 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 103335284 103335284 C T SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known silent c.1020 p.G340 0.993 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 26 0 0.00 26 2 7.14 MIR622 0 genome.wustl.edu 37 13 90883441 90883441 + RNA SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 13 90883441 90883441 A C SNP MIR622 ENST00000385123 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors MIR622 HGNC ENSG00000207858 tier1 - - 39 0 0.00 23 8 25.81 MPHOSPH9 0 genome.wustl.edu 37 12 123648514 123648514 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 123648514 123648514 C T SNP MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known missense c.2435 p.R812H 0.270 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 tier1 - - 30 0 0.00 34 4 10.53 MRGPRX3 0 genome.wustl.edu 37 11 18158959 18158959 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 18158959 18158959 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known silent c.210 p.A70 0.022 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 35 0 0.00 14 27 65.85 MROH2B 0 genome.wustl.edu 37 5 41042283 41042283 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 41042283 41042283 T G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.1864 p.T622P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 71 0 0.00 49 77 61.11 MST1R 0 genome.wustl.edu 37 3 49935600 49935600 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 49935600 49935600 G A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known silent c.1764 p.T588 0.330 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 14 0 0.00 3 3 50.00 MSTO1 0 genome.wustl.edu 37 1 155584306 155584306 + RNA SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 155584306 155584306 G A SNP MSTO1 ENST00000483734 human ensembl 74_37 +1 known rna NULL NULL 0.075 - - - no_errors MSTO1 HGNC ENSG00000125459 tier1 - - 23 0 0.00 15 5 25.00 MTMR7 0 genome.wustl.edu 37 8 17159669 17159669 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 17159669 17159669 C T SNP MTMR7 ENST00000180173 human ensembl 74_37 -1 known silent c.1614 p.L538 0.006 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 tier1 - - 36 0 0.00 66 4 5.71 MUC16 0 genome.wustl.edu 37 19 9026312 9026312 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 9026312 9026312 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.36674 p.A12225D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 99 0 0.00 54 4 6.90 MUC17 0 genome.wustl.edu 37 7 100686089 100686089 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 100686089 100686089 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.11392 p.L3798I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 38 0 0.00 70 5 6.67 MUC19 0 genome.wustl.edu 37 12 40922066 40922066 + RNA SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 40922066 40922066 T G SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 69 0 0.00 44 21 32.31 MUC2 0 genome.wustl.edu 37 11 1090371 1090371 + Missense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 1090371 1090371 C G SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.3667 p.P1223A 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 30 0 0.00 44 3 6.38 MYBPC3 0 genome.wustl.edu 37 11 47364637 47364637 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 47364637 47364637 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.1286 p.A429V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 71 0 0.00 26 33 55.93 MYO18B 0 genome.wustl.edu 37 22 26243569 26243569 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 22 26243569 26243569 T C SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.3725 p.V1242A 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 45 0 0.00 30 4 11.76 NCEH1 0 genome.wustl.edu 37 3 172428853 172428853 + Silent SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 172428853 172428853 C A SNP NCEH1 ENST00000538775 human ensembl 74_37 -1 known silent c.18 p.G6 0.864 NULL pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 tier1 - - 41 0 0.00 59 23 28.05 NDST3 0 genome.wustl.edu 37 4 119026181 119026181 + Silent SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 119026181 119026181 T C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known silent c.990 p.L330 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 89 0 0.00 71 4 5.33 NIN 0 genome.wustl.edu 37 14 51190336 51190336 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 14 51190336 51190336 C A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.6247 p.A2083S 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 59 0 0.00 53 4 7.02 NKRF 0 genome.wustl.edu 37 X 118724446 118724446 + Silent SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 118724446 118724446 T C SNP NKRF ENST00000542113 human ensembl 74_37 -1 known silent c.987 p.P329 0.824 NULL pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 tier1 - - 27 0 0.00 41 7 14.58 NOA1 0 genome.wustl.edu 37 4 57834638 57834638 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 57834638 57834638 G T SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.1559 p.P520Q 1.000 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 82 0 0.00 67 4 5.63 NPFFR2 0 genome.wustl.edu 37 4 72994561 72994561 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 72994561 72994561 T G SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.559 p.L187V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 tier1 - - 49 0 0.00 18 6 25.00 NPPA-AS1 0 genome.wustl.edu 37 1 11907582 11907582 + RNA SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 11907582 11907582 C A SNP NPPA-AS1 ENST00000446542 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NPPA-AS1 HGNC ENSG00000242349 tier1 - - 42 0 0.00 39 4 9.30 NPR1 0 genome.wustl.edu 37 1 153665880 153665880 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 153665880 153665880 C T SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.3176 p.T1059I 0.994 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 tier1 - - 24 0 0.00 20 4 16.67 OLFM1 0 genome.wustl.edu 37 9 137979262 137979262 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 137979262 137979262 C A SNP OLFM1 ENST00000371796 human ensembl 74_37 +1 putative missense c.43 p.Q15K 0.004 NULL pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 56 0 0.00 33 10 23.26 OLFM1 0 genome.wustl.edu 37 9 138011965 138011965 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 138011965 138011965 G A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.1399 p.G467S 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 46 0 0.00 18 14 43.75 OR10G8 0 genome.wustl.edu 37 11 123900543 123900543 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 123900543 123900543 T C SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.214 p.S72P 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 tier1 - - 131 0 0.00 58 34 36.96 OR14K1 0 genome.wustl.edu 37 1 247902410 247902410 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 247902410 247902410 A C SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.494 p.N165T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 tier1 - - 43 0 0.00 16 13 44.83 OR1L3 0 genome.wustl.edu 37 9 125437661 125437661 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 125437661 125437661 T G SNP OR1L3 ENST00000304820 human ensembl 74_37 +1 known missense c.253 p.F85V 0.065 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 OR1L3 HGNC ENSG00000171481 tier1 - - 43 0 0.00 25 14 35.90 OR4F15 0 genome.wustl.edu 37 15 102359250 102359250 + Nonsense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 15 102359250 102359250 C G SNP OR4F15 ENST00000332238 human ensembl 74_37 +1 known nonsense c.861 p.Y287* 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 tier1 - - 69 0 0.00 54 12 18.18 OR52B2 0 genome.wustl.edu 37 11 6191058 6191058 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 6191058 6191058 G A SNP OR52B2 ENST00000530810 human ensembl 74_37 -1 known missense c.499 p.R167W 0.998 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 OR52B2 HGNC ENSG00000255307 34 0 0.00 32 2 5.88 OR5H15 0 genome.wustl.edu 37 3 97887982 97887982 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 97887982 97887982 T G SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known missense c.439 p.L147V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 tier1 - - 61 0 0.00 32 11 25.58 OTOGL 0 genome.wustl.edu 37 12 80729902 80729902 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 80729902 80729902 C T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.4555 p.P1519S 1.000 smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 56 0 0.00 66 8 10.81 PAX3 0 genome.wustl.edu 37 2 223066140 223066140 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 223066140 223066140 G T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.1442 p.P481Q 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 tier1 - - 44 0 0.00 36 4 10.00 PCDH17 0 genome.wustl.edu 37 13 58208430 58208430 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 13 58208430 58208430 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1750 p.V584M 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 21 0 0.00 30 3 9.09 PCDH18 0 genome.wustl.edu 37 4 138451482 138451482 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 138451482 138451482 T G SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1761 p.E587D 0.862 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 24 0 0.00 10 5 33.33 PCDH9 0 genome.wustl.edu 37 13 67802465 67802465 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 13 67802465 67802465 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.108 p.E36D 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 81 0 0.00 47 25 34.72 PCDHA12 0 genome.wustl.edu 37 5 140255345 140255345 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 140255345 140255345 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.288 p.C96 0.070 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 152 0 0.00 110 25 18.52 PCDHA8 0 genome.wustl.edu 37 5 140221171 140221171 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 140221171 140221171 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.265 p.R89W 0.752 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 114 0 0.00 104 20 16.13 PCDHB16 0 genome.wustl.edu 37 5 140562569 140562569 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 140562569 140562569 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.435 p.N145 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 tier1 - - 33 0 0.00 10 8 44.44 PCYT1B 0 genome.wustl.edu 37 X 24665159 24665159 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 24665159 24665159 G A SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.64 p.P22S 1.000 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 28 0 0.00 51 4 7.27 PDIA3 0 genome.wustl.edu 37 15 44063384 44063386 + In_Frame_Del DEL AAG AAG - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 15 44063384 44063386 AAG - DEL PDIA3 ENST00000300289 human ensembl 74_37 +1 known in_frame_del c.1486_1488 p.K499in_frame_del 1.000:1.000:1.000 tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 tier1 41 0 0.00 21 2 8.70 PHC2 0 genome.wustl.edu 37 1 33794743 33794743 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 33794743 33794743 G A SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.2153 p.T718I 0.978 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 48 0 0.00 17 3 15.00 PHF12 0 genome.wustl.edu 37 17 27233339 27233339 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 27233339 27233339 C T SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known silent c.2877 p.Q959 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 tier1 - - 38 0 0.00 59 5 7.81 PHKA1 0 genome.wustl.edu 37 X 71933721 71933721 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 71933721 71933721 C T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.8 p.S3N 1.000 superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 tier1 - - 34 0 0.00 36 5 12.20 PIGO 0 genome.wustl.edu 37 9 35091859 35091859 + Silent SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 35091859 35091859 C A SNP PIGO ENST00000341666 human ensembl 74_37 -1 known silent c.2025 p.A675 0.001 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 49 0 0.00 35 2 5.41 PIWIL2 0 genome.wustl.edu 37 8 22168808 22168808 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 22168808 22168808 G T SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.1984 p.A662S 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 51 0 0.00 63 4 5.97 PLBD2 0 genome.wustl.edu 37 12 113806984 113806984 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 113806984 113806984 C T SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known silent c.354 p.A118 0.603 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 tier1 - - 51 0 0.00 20 28 58.33 PLEKHG5 0 genome.wustl.edu 37 1 6527943 6527943 + Missense_Mutation SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 6527943 6527943 G C SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.3190 p.L1064V 0.990 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 37 0 0.00 14 12 46.15 PLXNA1 0 genome.wustl.edu 37 3 126724929 126724929 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 126724929 126724929 G T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.1905 p.Q635H 1.000 NULL 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 PLXNA1 HGNC ENSG00000114554 tier1 - - 44 0 0.00 58 5 7.94 POMGNT2 0 genome.wustl.edu 37 3 43121490 43121490 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 43121490 43121490 G A SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known silent c.1434 p.V478 0.000 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 13 0 0.00 10 8 44.44 PPFIA2 0 genome.wustl.edu 37 12 81671098 81671098 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 81671098 81671098 T C SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3308 p.K1103R 1.000 superfamily_SAM/pointed pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 61 0 0.00 37 9 19.57 PPM1J 0 genome.wustl.edu 37 1 113253406 113253406 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 113253406 113253406 G A SNP PPM1J ENST00000309276 human ensembl 74_37 -1 known missense c.1178 p.S393F 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1J HGNC ENSG00000155367 tier1 - - 49 0 0.00 56 4 6.67 PPP1R17 0 genome.wustl.edu 37 7 31732111 31732111 + Missense_Mutation SNP A A T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 31732111 31732111 A T SNP PPP1R17 ENST00000342032 human ensembl 74_37 +1 known missense c.56 p.K19M 0.973 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 tier1 - - 68 0 0.00 86 19 18.10 PRAMEF11 0 genome.wustl.edu 37 1 12885133 12885133 + Silent SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 12885133 12885133 T C SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known silent c.978 p.Q326 0.020 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 - - 202 0 0.00 136 47 25.68 PRCD 0 genome.wustl.edu 37 17 74540722 74540723 + RNA DEL TC TC - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 74540722 74540723 TC - DEL PRCD ENST00000397633 human ensembl 74_37 +1 known rna NULL NULL 0.976:0.591 - - - no_errors PRCD HGNC ENSG00000214140 tier1 48 0 0.00 34 12 26.09 PRDM14 0 genome.wustl.edu 37 8 70980758 70980758 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 70980758 70980758 G T SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known missense c.710 p.S237Y 0.519 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 tier1 - - 40 0 0.00 33 11 25.00 PRF1 0 genome.wustl.edu 37 10 72358049 72358049 + Frame_Shift_Del DEL C C - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 72358049 72358049 C - DEL PRF1 ENST00000373209 human ensembl 74_37 -1 known frame_shift_del c.1428 p.L478fs 0.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 tier1 29 0 0.00 31 2 6.06 PRKDC 0 genome.wustl.edu 37 8 48751732 48751733 + Frame_Shift_Ins INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 48751732 48751733 - A INS PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_ins c.7527_7526 p.L2509fs 0.988:0.996 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 66 0 0.00 52 18 25.71 PRRC2A 0 genome.wustl.edu 37 6 31601702 31601702 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 31601702 31601702 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.4655 p.G1552E 0.977 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 rs144821309 - 71 0 0.00 64 6 8.57 PTMA 0 genome.wustl.edu 37 2 232577616 232577616 + RNA SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 232577616 232577616 A G SNP PTMA ENST00000466801 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTMA HGNC ENSG00000187514 tier1 - - 39 0 0.00 37 5 10.87 PTPRF 0 genome.wustl.edu 37 1 44071948 44071948 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 44071948 44071948 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.3521 p.R1174Q 0.889 NULL 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 - - 103 0 0.00 74 5 6.33 PXDN 0 genome.wustl.edu 37 2 1658253 1658253 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 1658253 1658253 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1865 p.P622L 0.996 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 50 0 0.00 24 14 36.84 PXDNL 0 genome.wustl.edu 37 8 52320734 52320734 + Missense_Mutation SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 52320734 52320734 G C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.3450 p.I1150M 0.978 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 46 0 0.00 22 21 48.84 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827753 + Frame_Shift_Del DEL A A - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 125827753 125827753 A - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717 p.K576fs 0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 35 0 0.00 27 6 18.18 RASGRP4 0 genome.wustl.edu 37 19 38901801 38901801 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 38901801 38901801 G A SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known silent c.1806 p.P602 0.613 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 tier1 - - 45 0 0.00 54 12 18.18 RBAK 0 genome.wustl.edu 37 7 5103739 5103739 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 5103739 5103739 G A SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.652 p.A218T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 tier1 - - 23 0 0.00 16 10 38.46 RELL1 0 genome.wustl.edu 37 4 37640083 37640083 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 37640083 37640083 C T SNP RELL1 ENST00000314117 human ensembl 74_37 -1 known silent c.429 p.L143 0.013 NULL pfam_TNF_rcpt_RELT - no_errors RELL1 HGNC ENSG00000181826 52 0 0.00 48 3 5.88 RFX6 0 genome.wustl.edu 37 6 117246753 117246753 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 117246753 117246753 C A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.1816 p.Q606K 0.996 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 29 0 0.00 36 4 10.00 RIMS1 0 genome.wustl.edu 37 6 73108708 73108708 + Missense_Mutation SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 73108708 73108708 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4772 p.K1591R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 52 0 0.00 58 9 13.43 RN7SL860P 0 genome.wustl.edu 37 19 22784508 22784509 + RNA INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 22784508 22784509 - A INS RN7SL860P ENST00000473738 human ensembl 74_37 +1 known rna NULL NULL 0.037:0.037 - - - no_errors RN7SL860P HGNC ENSG00000240713 tier1 21 0 0.00 13 3 18.75 RNF168 0 genome.wustl.edu 37 3 196199341 196199341 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 196199341 196199341 G A SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known silent c.1065 p.C355 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 tier1 - - 45 0 0.00 64 4 5.88 RPS6KA6 0 genome.wustl.edu 37 X 83362682 83362682 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 83362682 83362682 G A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1060 p.P354S 1.000 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 tier1 - - 73 0 0.00 45 70 60.87 RUFY2 0 genome.wustl.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 70156583 70156583 T - DEL RUFY2 ENST00000388768 human ensembl 74_37 -1 known frame_shift_del c.457 p.M153fs 0.996 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 tier1 27 0 0.00 30 4 11.76 RYR3 0 genome.wustl.edu 37 15 33927904 33927904 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 15 33927904 33927904 T C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.3265 p.F1089L 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 45 0 0.00 20 5 20.00 SEC31B 0 genome.wustl.edu 37 10 102250010 102250010 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 102250010 102250010 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2720 p.T907I 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 31 0 0.00 31 2 6.06 SFRP4 0 genome.wustl.edu 37 7 37956032 37956032 + Silent SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 37956032 37956032 G T SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known silent c.108 p.P36 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 tier1 - - 43 0 0.00 50 5 9.09 SH3RF3 0 genome.wustl.edu 37 2 110065908 110065908 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 110065908 110065908 A C SNP SH3RF3 ENST00000309415 human ensembl 74_37 +1 known missense c.2111 p.N704T 0.073 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING - no_errors SH3RF3 HGNC ENSG00000172985 tier1 - - 72 0 0.00 46 34 42.50 SI 0 genome.wustl.edu 37 3 164758861 164758862 + Frame_Shift_Ins INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 164758861 164758862 - A INS SI ENST00000264382 human ensembl 74_37 -1 known frame_shift_ins c.2026_2025 p.G675fs 1.000:1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 27 0 0.00 23 5 17.86 SLAIN2 0 genome.wustl.edu 37 4 48422217 48422217 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 48422217 48422217 G A SNP SLAIN2 ENST00000264313 human ensembl 74_37 +1 known missense c.1436 p.S479N 1.000 NULL NULL - no_errors SLAIN2 HGNC ENSG00000109171 tier1 - - 94 0 0.00 82 6 6.82 SLC16A9 0 genome.wustl.edu 37 10 61444055 61444055 + RNA SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 61444055 61444055 G A SNP SLC16A9 ENST00000490066 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SLC16A9 HGNC ENSG00000165449 tier1 - - 66 0 0.00 34 15 30.61 SLC25A6 0 genome.wustl.edu 37 X 1508156 1508156 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 1508156 1508156 G A SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known silent c.576 p.F192 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 tier1 - - 78 0 0.00 39 37 48.68 SLC27A6 0 genome.wustl.edu 37 5 128324368 128324368 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 128324368 128324368 C T SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.761 p.T254I 0.856 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 84 0 0.00 64 4 5.88 SLC4A10 0 genome.wustl.edu 37 2 162757512 162757512 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 162757512 162757512 G T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.1433 p.R478L 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,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 44 0 0.00 28 3 9.68 SLC6A5 0 genome.wustl.edu 37 11 20652269 20652269 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 20652269 20652269 C A SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.1532 p.A511D 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 tier1 - - 45 0 0.00 46 4 8.00 SLIT2 0 genome.wustl.edu 37 4 20544250 20544250 + Splice_Site SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 20544250 20544250 G T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known splice_site c.2276+1 e21+1 1.000 - - - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 45 0 0.00 25 16 39.02 SMC5 0 genome.wustl.edu 37 9 72962954 72962954 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 72962954 72962954 G A SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known silent c.2889 p.E963 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 tier1 - - 65 0 0.00 37 15 28.85 SMCHD1 0 genome.wustl.edu 37 18 2728706 2728706 + RNA SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 18 2728706 2728706 C T SNP SMCHD1 ENST00000609587 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 10 0 0.00 11 7 38.89 SNORD116-8 0 genome.wustl.edu 37 15 25315620 25315620 + RNA SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 15 25315620 25315620 G A SNP SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors SNORD116-8 HGNC ENSG00000207093 tier1 - - 146 0 0.00 82 17 17.17 SNRNP40 0 genome.wustl.edu 37 1 31766005 31766006 + RNA INS - - A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 31766005 31766006 - A INS SNRNP40 ENST00000463988 human ensembl 74_37 -1 known rna NULL NULL 0.441:0.422 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 21 0 0.00 18 4 18.18 SNX19 0 genome.wustl.edu 37 11 130785517 130785517 + Silent SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 130785517 130785517 G T SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known silent c.318 p.I106 1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc 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 - - 58 0 0.00 36 4 10.00 SORCS3 0 genome.wustl.edu 37 10 106982918 106982918 + Nonsense_Mutation SNP A A T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 106982918 106982918 A T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known nonsense c.2779 p.R927* 1.000 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 57 0 0.00 34 2 5.56 SORL1 0 genome.wustl.edu 37 11 121476267 121476267 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 121476267 121476267 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.4935 p.R1645 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 55 0 0.00 22 24 52.17 SOX3 0 genome.wustl.edu 37 X 139587001 139587001 + Silent SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 139587001 139587001 T A SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known silent c.225 p.A75 1.000 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 tier1 - - 25 0 0.00 9 21 70.00 SPTA1 0 genome.wustl.edu 37 1 158631199 158631199 + Missense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 158631199 158631199 C G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2465 p.G822A 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 64 0 0.00 69 12 14.81 SPTA1 0 genome.wustl.edu 37 1 158645985 158645985 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 158645985 158645985 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1058 p.E353G 0.371 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 48 0 0.00 40 26 39.39 SPTAN1 0 genome.wustl.edu 37 9 131371514 131371514 + Missense_Mutation SNP A A T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 131371514 131371514 A T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.4709 p.K1570I 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 55 0 0.00 47 4 7.84 SSMEM1 0 genome.wustl.edu 37 7 129847882 129847882 + Nonsense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 129847882 129847882 G A SNP SSMEM1 ENST00000297819 human ensembl 74_37 +1 known nonsense c.132 p.W44* 1.000 NULL NULL - no_errors SSMEM1 HGNC ENSG00000165120 tier1 - - 47 0 0.00 31 4 11.43 SULF1 0 genome.wustl.edu 37 8 70517099 70517099 + Missense_Mutation SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 70517099 70517099 A G SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1309 p.K437E 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 49 0 0.00 34 12 26.09 SVIL 0 genome.wustl.edu 37 10 29782145 29782145 + Silent SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 29782145 29782145 G T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.4017 p.P1339 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 56 0 0.00 43 4 8.51 SYNDIG1 0 genome.wustl.edu 37 20 24524097 24524097 + Missense_Mutation SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 20 24524097 24524097 A G SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.364 p.T122A 0.993 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 tier1 - - 49 0 0.00 37 4 9.52 SYNE1 0 genome.wustl.edu 37 6 152702457 152702457 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 152702457 152702457 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.8693 p.S2898N 0.783 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 25 0 0.00 21 9 30.00 SYT1 0 genome.wustl.edu 37 12 79611436 79611436 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 79611436 79611436 A C SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known missense c.137 p.K46T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 tier1 - - 56 0 0.00 15 15 50.00 SYT9 0 genome.wustl.edu 37 11 7335091 7335091 + Silent SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 7335091 7335091 A G SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known silent c.963 p.Q321 0.993 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 tier1 - - 62 0 0.00 34 49 59.04 SYTL1 0 genome.wustl.edu 37 1 27677651 27677651 + RNA SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 27677651 27677651 C T SNP SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 tier1 - - 67 0 0.00 59 15 20.27 TAS2R10 0 genome.wustl.edu 37 12 10978034 10978034 + Silent SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 10978034 10978034 G A SNP TAS2R10 ENST00000240619 human ensembl 74_37 -1 known silent c.835 p.L279 0.992 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 tier1 - - 53 0 0.00 31 22 41.51 TBRG4 0 genome.wustl.edu 37 7 45139959 45139959 + Missense_Mutation SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 45139959 45139959 T A SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known missense c.1861 p.M621L 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors TBRG4 HGNC ENSG00000136270 tier1 - - 71 0 0.00 56 13 18.84 TCAM1P 0 genome.wustl.edu 37 17 61936711 61936711 + RNA SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 61936711 61936711 G A SNP TCAM1P ENST00000466125 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors TCAM1P HGNC ENSG00000240280 tier1 - - 50 0 0.00 39 4 9.30 TCEB1 0 genome.wustl.edu 37 8 74858940 74858940 + Silent SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 74858940 74858940 G C SNP TCEB1 ENST00000520242 human ensembl 74_37 -1 known silent c.264 p.T88 0.482 superfamily_BTB/POZ_fold,smart_Skp1_comp pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp - no_errors TCEB1 HGNC ENSG00000154582 tier1 - - 46 0 0.00 27 4 12.90 TCEB3B 0 genome.wustl.edu 37 18 44560412 44560412 + Silent SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 18 44560412 44560412 T A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.1224 p.G408 0.001 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 84 0 0.00 62 4 6.06 TET2 0 genome.wustl.edu 37 4 106157180 106157180 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 4 106157180 106157180 T G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.2081 p.L694R 0.981 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 64 0 0.00 36 13 26.53 TG 0 genome.wustl.edu 37 8 133931746 133931746 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 133931746 133931746 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4504 p.A1502T 0.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 44 0 0.00 37 13 26.00 TG 0 genome.wustl.edu 37 8 134030169 134030169 + Frame_Shift_Del DEL C C - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 134030169 134030169 C - DEL TG ENST00000220616 human ensembl 74_37 +1 known frame_shift_del c.6709 p.L2238fs 0.954 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 49 0 0.00 60 6 9.09 TGFBR1 0 genome.wustl.edu 37 9 101908876 101908876 + Missense_Mutation SNP C C G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 101908876 101908876 C G SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known missense c.1240 p.R414G 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,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 tier1 - - 57 0 0.00 33 6 15.38 TICRR 0 genome.wustl.edu 37 15 90125917 90125917 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 15 90125917 90125917 T G SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.655 p.L219V 0.005 NULL NULL - no_errors TICRR HGNC ENSG00000140534 tier1 - - 36 0 0.00 19 9 31.03 TIMM50 0 genome.wustl.edu 37 19 39979266 39979266 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 39979266 39979266 G T SNP TIMM50 ENST00000314349 human ensembl 74_37 +1 known missense c.1250 p.R417L 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 15 0 0.00 25 4 13.79 TLR4 0 genome.wustl.edu 37 9 120476670 120476670 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 120476670 120476670 A C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.2264 p.Q755P 1.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 54 0 0.00 30 11 26.83 TMPRSS6 0 genome.wustl.edu 37 22 37480411 37480411 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 22 37480411 37480411 A C SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.1120 p.F374V 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom,pfscan_CUB_dom pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 tier1 - - 39 0 0.00 17 5 22.73 TNRC6A 0 genome.wustl.edu 37 16 24788428 24788428 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 16 24788428 24788428 C A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.338 p.P113Q 0.109 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 65 0 0.00 76 4 5.00 TP53 0 genome.wustl.edu 37 17 7579350 7579350 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 7579350 7579350 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.337 p.F113V 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 113 0 0.00 42 59 58.42 TRHDE 0 genome.wustl.edu 37 12 73012730 73012730 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 73012730 73012730 A C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2246 p.K749T 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 35 0 0.00 41 4 8.89 TSC22D1 0 genome.wustl.edu 37 13 45149652 45149652 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 13 45149652 45149652 C T SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known missense c.559 p.G187R 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 tier1 - - 73 0 0.00 49 21 30.00 TSPAN7 0 genome.wustl.edu 37 X 38525478 38525478 + Missense_Mutation SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 38525478 38525478 T A SNP TSPAN7 ENST00000422612 human ensembl 74_37 +1 known missense c.263 p.L88H 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 tier1 - - 59 0 0.00 71 4 5.33 TSPAN7 0 genome.wustl.edu 37 X 38525479 38525479 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 38525479 38525479 C T SNP TSPAN7 ENST00000422612 human ensembl 74_37 +1 known silent c.264 p.L88 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 tier1 - - 58 0 0.00 68 4 5.56 TTN 0 genome.wustl.edu 37 2 179469607 179469607 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 179469607 179469607 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46505 p.R15502K 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 - - 62 0 0.00 54 25 31.65 TTN-AS1 0 genome.wustl.edu 37 2 179484844 179484844 + RNA SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 2 179484844 179484844 A C SNP TTN-AS1 ENST00000456053 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 41 0 0.00 17 5 22.73 UBTF 0 genome.wustl.edu 37 17 42290223 42290223 + Silent SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 42290223 42290223 G T SNP UBTF ENST00000302904 human ensembl 74_37 -1 known silent c.624 p.T208 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 tier1 - - 52 0 0.00 30 4 11.76 ULK2 0 genome.wustl.edu 37 17 19680971 19680971 + Missense_Mutation SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 17 19680971 19680971 T A SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.2975 p.Y992F 1.000 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 57 0 0.00 38 3 7.32 UMOD 0 genome.wustl.edu 37 16 20360416 20360416 + Nonsense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 16 20360416 20360416 G T SNP UMOD ENST00000424589 human ensembl 74_37 -1 known nonsense c.306 p.C102* 0.917 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 tier1 - - 50 0 0.00 47 13 21.67 USH2A 0 genome.wustl.edu 37 1 215963479 215963479 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 1 215963479 215963479 C A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.10104 p.Q3368H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 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 54 0 0.00 57 3 5.00 VAC14 0 genome.wustl.edu 37 16 70796857 70796857 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 16 70796857 70796857 G T SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known missense c.1232 p.T411K 0.910 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 42 0 0.00 51 3 5.56 VCAN 0 genome.wustl.edu 37 5 82808152 82808152 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 5 82808152 82808152 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.979 p.R327C 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 60 0 0.00 26 9 25.71 VCX3B 0 genome.wustl.edu 37 X 8434032 8434032 + Splice_Site SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 8434032 8434032 G A SNP VCX3B ENST00000440654 human ensembl 74_37 +1 known splice_site c.348+1 e2+1 0.007 - - - no_errors VCX3B HGNC ENSG00000205642 tier1 - - 46 0 0.00 24 19 44.19 WASH3P 0 genome.wustl.edu 37 15 102506815 102506816 + RNA DEL CC CC - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 15 102506815 102506816 CC - DEL WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 14 0 0.00 6 4 40.00 WHSC1L1 0 genome.wustl.edu 37 8 38135883 38135883 + Nonsense_Mutation SNP T T A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 8 38135883 38135883 T A SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known nonsense c.3808 p.R1270* 1.000 smart_Post-SET_dom,pfscan_Post-SET_dom pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 - - 63 0 0.00 63 9 12.33 WISP2 0 genome.wustl.edu 37 20 43356469 43356469 + RNA SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 20 43356469 43356469 T C SNP WISP2 ENST00000471629 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors WISP2 HGNC ENSG00000064205 tier1 - - 57 0 0.00 76 4 5.00 WWP2 0 genome.wustl.edu 37 16 69967973 69967973 + Missense_Mutation SNP T T C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 16 69967973 69967973 T C SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.1783 p.S595P 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 tier1 - - 70 0 0.00 53 4 7.02 XIST 0 genome.wustl.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 X 73047124 73047125 AC - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 11 0 0.00 11 4 26.67 XPNPEP3 0 genome.wustl.edu 37 22 41277988 41277988 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 22 41277988 41277988 C A SNP XPNPEP3 ENST00000357137 human ensembl 74_37 +1 known missense c.396 p.S132R 1.000 pfam_Aminopep_P_N pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 tier1 - - 49 0 0.00 47 4 7.84 ZBBX 0 genome.wustl.edu 37 3 167023731 167023731 + Silent SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 3 167023731 167023731 A G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.1425 p.T475 0.003 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 57 0 0.00 39 17 30.36 ZBTB12 0 genome.wustl.edu 37 6 31868782 31868782 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 6 31868782 31868782 C T SNP ZBTB12 ENST00000375527 human ensembl 74_37 -1 known missense c.301 p.V101I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 68 0 0.00 45 3 6.25 ZBTB43 0 genome.wustl.edu 37 9 129595861 129595863 + In_Frame_Del DEL AAG AAG - TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 9 129595861 129595863 AAG - DEL ZBTB43 ENST00000373457 human ensembl 74_37 +1 known in_frame_del c.1073_1075 p.E360in_frame_del 1.000:1.000:1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 tier1 19 0 0.00 20 4 16.67 ZFAND4 0 genome.wustl.edu 37 10 46113654 46113654 + Missense_Mutation SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 10 46113654 46113654 T G SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.1982 p.K661T 1.000 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 tier1 - - 49 0 0.00 37 81 68.64 ZFC3H1 0 genome.wustl.edu 37 12 72004484 72004484 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 12 72004484 72004484 C T SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known silent c.5823 p.L1941 1.000 smart_HAT pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 tier1 - - 26 0 0.00 19 4 17.39 ZFP28 0 genome.wustl.edu 37 19 57066422 57066422 + Silent SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 57066422 57066422 T G SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known silent c.2268 p.P756 0.751 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 ZFP28 HGNC ENSG00000196867 tier1 - - 62 0 0.00 61 10 14.08 ZGPAT 0 genome.wustl.edu 37 20 62364648 62364648 + Missense_Mutation SNP G G T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 20 62364648 62364648 G T SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known missense c.662 p.G221V 1.000 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 60 0 0.00 67 4 5.63 ZNF212 0 genome.wustl.edu 37 7 148950858 148950858 + Missense_Mutation SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 148950858 148950858 C A SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.840 p.S280R 0.002 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 tier1 - - 48 0 0.00 31 6 16.22 ZNF408 0 genome.wustl.edu 37 11 46726045 46726045 + Silent SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 11 46726045 46726045 C T SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known silent c.795 p.C265 0.015 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 36 0 0.00 59 4 6.35 ZNF425 0 genome.wustl.edu 37 7 148801692 148801692 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 148801692 148801692 C T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.1271 p.R424H 0.048 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 - - 57 0 0.00 45 18 28.57 ZNF469 0 genome.wustl.edu 37 16 88500218 88500218 + Missense_Mutation SNP G G A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 16 88500218 88500218 G A SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.6256 p.A2086T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 17 0 0.00 17 4 19.05 ZNF493 0 genome.wustl.edu 37 19 21606380 21606380 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 21606380 21606380 A C SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.535 p.T179P 0.068 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 tier1 - - 47 0 0.00 30 12 27.91 ZNF558 0 genome.wustl.edu 37 19 8932677 8932677 + Splice_Site SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 8932677 8932677 A G SNP ZNF558 ENST00000301475 human ensembl 74_37 -1 known splice_site c.120+2 e2+2 0.721 - - - no_errors ZNF558 HGNC ENSG00000167785 75 0 0.00 65 4 5.80 ZNF598 0 genome.wustl.edu 37 16 2052579 2052579 + Missense_Mutation SNP C C T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 16 2052579 2052579 C T SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.620 p.R207H 1.000 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 tier1 - - 24 0 0.00 31 10 23.81 ZNF628 0 genome.wustl.edu 37 19 55994931 55994931 + Missense_Mutation SNP G G C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 55994931 55994931 G C SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.2371 p.G791R 0.023 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 tier1 - - 51 0 0.00 44 4 8.33 ZNF716 0 genome.wustl.edu 37 7 57529385 57529385 + Missense_Mutation SNP A A C TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 57529385 57529385 A C SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.1218 p.K406N 0.995 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 ZNF716 HGNC ENSG00000182111 tier1 - - 40 0 0.00 47 9 16.07 ZNF729 0 genome.wustl.edu 37 19 22497392 22497392 + Silent SNP T T G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 22497392 22497392 T G SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.1173 p.L391 0.002 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 ZNF729 HGNC ENSG00000196350 tier1 - - 78 0 0.00 48 5 9.43 ZNF804B 0 genome.wustl.edu 37 7 88963087 88963087 + Missense_Mutation SNP A A T TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 7 88963087 88963087 A T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.791 p.K264M 0.009 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 23 0 0.00 14 41 74.55 ZNF99 0 genome.wustl.edu 37 19 22952779 22952779 + Silent SNP A A G TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e114d53-ee14-4bbe-a0f6-2ede2813fadf 871ea69a-5531-48fd-9f16-1918dd96a9e5 19 22952779 22952779 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.6 p.S2 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 - no_errors ZNF99 HGNC ENSG00000213973 tier1 - - 74 0 0.00 47 11 18.97