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 ABCC6 0 genome.wustl.edu 37 16 16281042 16281042 + Silent SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 16 16281042 16281042 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.1806 p.V602 0.012 superfamily_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 tier1 - - 14 0 0.00 13 6 31.58 ABCC8 0 genome.wustl.edu 37 11 17498242 17498242 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 17498242 17498242 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.82 p.V28M 1.000 prints_Sulphorea_rcpt pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 20 0 0.00 18 13 41.94 ABCD3 0 genome.wustl.edu 37 1 94982785 94982785 + RNA DEL A A - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 94982785 94982785 A - DEL ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 tier1 18 0 0.00 16 2 11.11 ADAMTS16 0 genome.wustl.edu 37 5 5239960 5239960 + Silent SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 5239960 5239960 T G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.2445 p.T815 0.032 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 - - 92 0 0.00 122 20 14.08 ALG10 0 genome.wustl.edu 37 12 34179624 34179624 + Missense_Mutation SNP T T A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 12 34179624 34179624 T A SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known missense c.1196 p.F399Y 0.993 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 tier1 - - 123 0 0.00 151 17 10.12 ALK 0 genome.wustl.edu 37 2 29416760 29416760 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 29416760 29416760 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.4193 p.P1398L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 32 0 0.00 34 15 30.61 ALKBH8 0 genome.wustl.edu 37 11 107403037 107403037 + Silent SNP A A G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 107403037 107403037 A G SNP ALKBH8 ENST00000417449 human ensembl 74_37 -1 known silent c.876 p.L292 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 tier1 - - 19 0 0.00 14 17 54.84 ALPK3 0 genome.wustl.edu 37 15 85370762 85370762 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 15 85370762 85370762 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.836 p.P279L 0.998 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 60 0 0.00 5 39 88.64 ALS2CR11 0 genome.wustl.edu 37 2 202446915 202446915 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 202446915 202446915 C T SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known missense c.542 p.R181Q 0.811 superfamily_C2_dom superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 rs199640900 - 69 0 0.00 97 19 16.38 ASPM 0 genome.wustl.edu 37 1 197072531 197072531 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 197072531 197072531 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.5850 p.A1950 0.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 161 0 0.00 146 61 29.47 BBX 0 genome.wustl.edu 37 3 107491966 107491966 + Silent SNP A A G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 3 107491966 107491966 A G SNP BBX ENST00000325805 human ensembl 74_37 +1 known silent c.1398 p.K466 0.904 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 tier1 - - 52 0 0.00 73 19 20.65 BCAR1 0 genome.wustl.edu 37 16 75276972 75276972 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 16 75276972 75276972 G A SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.167 p.A56V 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 tier1 - - 36 0 0.00 4 21 84.00 BCORL1 0 genome.wustl.edu 37 X 129156940 129156940 + Missense_Mutation SNP C C G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd X 129156940 129156940 C G SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.3676 p.R1226G 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 - - 42 0 0.00 12 60 83.33 BFSP1 0 genome.wustl.edu 37 20 17475019 17475019 + Silent SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 20 17475019 17475019 G A SNP BFSP1 ENST00000377873 human ensembl 74_37 -1 known silent c.1698 p.D566 0.000 NULL pfam_IF,superfamily_Prefoldin - no_errors BFSP1 HGNC ENSG00000125864 tier1 - - 95 0 0.00 102 60 37.04 BIRC6 0 genome.wustl.edu 37 2 32774408 32774408 + Missense_Mutation SNP G G C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 32774408 32774408 G C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.13004 p.S4335T 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 - - 40 0 0.00 81 6 6.90 BMP1 0 genome.wustl.edu 37 8 22056653 22056653 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 8 22056653 22056653 C T SNP BMP1 ENST00000397816 human ensembl 74_37 +1 known silent c.2226 p.H742 0.000 pirsf_BMP_1/tolloid-like pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 tier1 - - 56 0 0.00 34 31 46.97 C4orf22 0 genome.wustl.edu 37 4 81791253 81791254 + Frame_Shift_Ins INS - - A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 4 81791253 81791254 - A INS C4orf22 ENST00000508675 human ensembl 74_37 +1 known frame_shift_ins c.491_492 p.R167fs 0.870:0.769 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 tier1 101 0 0.00 115 20 14.81 CACNA2D3 0 genome.wustl.edu 37 3 55038837 55038837 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 3 55038837 55038837 G A SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2738 p.S913N 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 - - 33 0 0.00 28 20 41.67 CCDC15 0 genome.wustl.edu 37 11 124857419 124857419 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 124857419 124857419 G A SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.1297 p.V433I 0.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 tier1 - - 53 0 0.00 71 10 12.35 CCT8L2 0 genome.wustl.edu 37 22 17071787 17071787 + Frame_Shift_Del DEL T T - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 22 17071787 17071787 T - DEL CCT8L2 ENST00000359963 human ensembl 74_37 -1 known frame_shift_del c.1654 p.I552fs 0.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 73 0 0.00 59 16 21.33 CD33 0 genome.wustl.edu 37 19 51742771 51742771 + Splice_Site SNP A A C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 51742771 51742771 A C SNP CD33 ENST00000262262 human ensembl 74_37 +1 known splice_site c.925-2 e7-2 0.008 - - - no_errors CD33 HGNC ENSG00000105383 tier1 - - 17 0 0.00 18 16 47.06 CDK5RAP3 0 genome.wustl.edu 37 17 46053334 46053334 + Silent SNP A A G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 17 46053334 46053334 A G SNP CDK5RAP3 ENST00000338399 human ensembl 74_37 +1 known silent c.753 p.E251 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 32 0 0.00 33 6 15.00 CELSR3 0 genome.wustl.edu 37 3 48688881 48688881 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 3 48688881 48688881 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.6097 p.G2033R 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 - - 39 0 0.00 25 7 21.88 CHRNA1 0 genome.wustl.edu 37 2 175618961 175618961 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 175618961 175618961 C T SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known missense c.601 p.V201M 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 tier1 rs137852799 - 43 0 0.00 33 10 22.73 CLEC12B 0 genome.wustl.edu 37 12 10168246 10168246 + Silent SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 12 10168246 10168246 G A SNP CLEC12B ENST00000338896 human ensembl 74_37 +1 known silent c.600 p.S200 0.573 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Ly49,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12B HGNC ENSG00000256660 tier1 - - 136 0 0.00 33 97 74.62 CMSS1 0 genome.wustl.edu 37 3 99897180 99897180 + Missense_Mutation SNP T T C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 3 99897180 99897180 T C SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known missense c.788 p.M263T 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors CMSS1 HGNC ENSG00000184220 tier1 - - 46 0 0.00 57 12 17.39 CSAG1 0 genome.wustl.edu 37 X 151904507 151904507 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd X 151904507 151904507 C T SNP CSAG1 ENST00000370287 human ensembl 74_37 +1 known missense c.5 p.S2L 0.002 NULL NULL - no_errors CSAG1 HGNC ENSG00000198930 tier1 - - 34 0 0.00 11 55 83.33 CSMD3 0 genome.wustl.edu 37 8 113662428 113662428 + Missense_Mutation SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 8 113662428 113662428 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.3155 p.K1052T 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 103 0 0.00 118 21 15.11 CTSO 0 genome.wustl.edu 37 4 156849542 156849542 + Missense_Mutation SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 4 156849542 156849542 T G SNP CTSO ENST00000433477 human ensembl 74_37 -1 known missense c.877 p.S293R 0.007 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 tier1 - - 74 0 0.00 83 27 24.55 CYP7B1 0 genome.wustl.edu 37 8 65517264 65517264 + Missense_Mutation SNP T T C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 8 65517264 65517264 T C SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.1208 p.D403G 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 tier1 - - 51 0 0.00 41 20 32.79 DDX11 0 genome.wustl.edu 37 12 31256772 31256772 + Missense_Mutation SNP G G C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 12 31256772 31256772 G C SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.2718 p.M906I 0.005 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 tier1 - - 71 0 0.00 43 19 30.65 DIDO1 0 genome.wustl.edu 37 20 61513315 61513315 + Silent SNP G G C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 20 61513315 61513315 G C SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.3993 p.S1331 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 109 0 0.00 132 16 10.81 DNAJC11 0 genome.wustl.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 6727803 6727804 TC - DEL DNAJC11 ENST00000377577 human ensembl 74_37 -1 known frame_shift_del c.344_343 p.E115fs 1.000:1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 tier1 44 0 0.00 32 4 11.11 DOCK2 0 genome.wustl.edu 37 5 169507257 169507257 + Missense_Mutation SNP T T C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 169507257 169507257 T C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5257 p.F1753L 0.997 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 51 0 0.00 28 17 37.78 DOPEY2 0 genome.wustl.edu 37 21 37586821 37586821 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 21 37586821 37586821 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.1096 p.V366I 0.992 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 31 0 0.00 26 19 42.22 DPYD 0 genome.wustl.edu 37 1 97981479 97981479 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 97981479 97981479 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1543 p.V515I 0.585 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 53 0 0.00 49 3 5.77 ENSG00000229283 0 genome.wustl.edu 37 1 111866561 111866561 + RNA SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 111866561 111866561 T G SNP ENSG00000229283 ENST00000426321 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP5-1125M8.2 Clone_based_vega_gene ENSG00000229283 tier1 - - 23 0 0.00 18 9 33.33 ENSG00000240453 0 genome.wustl.edu 37 1 745524 745524 + RNA SNP A A G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 745524 745524 A G SNP ENSG00000240453 ENST00000435300 human ensembl 74_37 -1 known rna NULL NULL 0.845 - - - no_errors RP11-206L10.10 Clone_based_vega_gene ENSG00000240453 tier1 - - 44 0 0.00 24 14 36.84 ENSG00000262823 0 genome.wustl.edu 37 17 4389637 4389637 + RNA SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 17 4389637 4389637 G A SNP ENSG00000262823 ENST00000576086 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP13-580F15.2 Clone_based_vega_gene ENSG00000262823 tier1 - - 36 0 0.00 25 8 24.24 ENSG00000268568 0 genome.wustl.edu 37 19 57184234 57184234 + RNA SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 57184234 57184234 G A SNP ENSG00000268568 ENST00000602145 human ensembl 74_37 -1 known rna NULL NULL 0.964 - - - no_errors AC007228.9 Clone_based_vega_gene ENSG00000268568 tier1 - - 27 0 0.00 33 8 19.05 FAT3 0 genome.wustl.edu 37 11 92532650 92532650 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 92532650 92532650 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.6471 p.T2157 0.776 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 26 0 0.00 35 4 10.26 FBN2 0 genome.wustl.edu 37 5 127712532 127712532 + Missense_Mutation SNP T T C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 127712532 127712532 T C SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.1864 p.T622A 0.997 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_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 - - 98 0 0.00 76 25 24.75 FOSL2 0 genome.wustl.edu 37 2 28635263 28635263 + Missense_Mutation SNP G G T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 28635263 28635263 G T SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.929 p.S310I 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 tier1 - - 25 0 0.00 27 11 28.95 FOSL2 0 genome.wustl.edu 37 2 28635264 28635264 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 28635264 28635264 C T SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known silent c.930 p.S310 0.913 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 tier1 rs141121352 - 25 0 0.00 27 11 28.95 GCKR 0 genome.wustl.edu 37 2 27729380 27729380 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 27729380 27729380 G A SNP GCKR ENST00000264717 human ensembl 74_37 +1 known missense c.902 p.R301Q 0.801 NULL NULL - no_errors GCKR HGNC ENSG00000084734 tier1 - - 42 0 0.00 60 27 31.03 GHSR 0 genome.wustl.edu 37 3 172166087 172166087 + Silent SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 3 172166087 172166087 G A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known silent c.117 p.P39 0.991 prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 tier1 - - 32 0 0.00 18 11 37.93 GOLGA6L2 0 genome.wustl.edu 37 15 23692244 23692244 + Splice_Site SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 15 23692244 23692244 C T SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known splice_site c.84+1 e1+1 0.058 - - - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 - - 9 0 0.00 8 8 50.00 GRM1 0 genome.wustl.edu 37 6 146720677 146720677 + Silent SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 6 146720677 146720677 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.2502 p.K834 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 48 0 0.00 76 6 7.32 GRM5 0 genome.wustl.edu 37 11 88300345 88300345 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 88300345 88300345 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2506 p.A836T 1.000 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 69 0 0.00 82 15 15.15 GTF3C4 0 genome.wustl.edu 37 9 135553705 135553705 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 9 135553705 135553705 C T SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known silent c.699 p.L233 0.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 tier1 - - 72 0 0.00 54 21 28.00 GUCY1A3 0 genome.wustl.edu 37 4 156617926 156617926 + RNA SNP T T A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 4 156617926 156617926 T A SNP GUCY1A3 ENST00000515602 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 10 0 0.00 13 8 38.10 GUCY1A3 0 genome.wustl.edu 37 4 156632170 156632170 + Missense_Mutation SNP A A C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 4 156632170 156632170 A C SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.853 p.T285P 1.000 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 48 0 0.00 51 7 12.07 GYS1 0 genome.wustl.edu 37 19 49486005 49486005 + Missense_Mutation SNP G G C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 49486005 49486005 G C SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known missense c.913 p.Q305E 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 tier1 - - 102 0 0.00 102 9 8.11 HIST1H2BN 0 genome.wustl.edu 37 6 27806583 27806583 + Silent SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 6 27806583 27806583 G A SNP HIST1H2BN ENST00000396980 human ensembl 74_37 +1 known silent c.144 p.Q48 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BN HGNC ENSG00000233822 tier1 - - 218 0 0.00 223 45 16.79 HRNR 0 genome.wustl.edu 37 1 152191104 152191104 + Missense_Mutation SNP A A T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 152191104 152191104 A T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.3001 p.S1001T 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 203 0 0.00 92 176 65.67 HUWE1 0 genome.wustl.edu 37 X 53571559 53571559 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd X 53571559 53571559 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.11213 p.R3738H 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 18 0 0.00 23 7 23.33 IGF2R 0 genome.wustl.edu 37 6 160430155 160430155 + Frame_Shift_Del DEL G G - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 6 160430155 160430155 G - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.403 p.T137fs 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 56 0 0.00 57 31 35.23 IGSF3 0 genome.wustl.edu 37 1 117156621 117156621 + Nonsense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 117156621 117156621 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known nonsense c.598 p.R200* 0.999 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 67 0 0.00 36 20 35.71 INPP5J 0 genome.wustl.edu 37 22 31524242 31524242 + Frame_Shift_Del DEL C C - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 22 31524242 31524242 C - DEL INPP5J ENST00000331075 human ensembl 74_37 +1 known frame_shift_del c.1942 p.Q648fs 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 tier1 9 0 0.00 4 2 33.33 INTS4 0 genome.wustl.edu 37 11 77639469 77639469 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 77639469 77639469 C T SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known silent c.1290 p.Q430 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 tier1 - - 37 0 0.00 40 16 28.57 ITPRIPL1 0 genome.wustl.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 96992793 96992795 GAG - DEL ITPRIPL1 ENST00000361124 human ensembl 74_37 +1 known in_frame_del c.448_450 p.E153in_frame_del 0.991:0.987:0.325 NULL NULL - no_errors ITPRIPL1 HGNC ENSG00000198885 tier1 49 0 0.00 55 5 8.33 KAL1 0 genome.wustl.edu 37 X 8507759 8507759 + Missense_Mutation SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd X 8507759 8507759 T G SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.1395 p.E465D 0.155 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 tier1 - - 61 0 0.00 76 11 12.64 KCNS1 0 genome.wustl.edu 37 20 43723568 43723571 + Frame_Shift_Del DEL CTGT CTGT - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 20 43723568 43723571 CTGT - DEL KCNS1 ENST00000306117 human ensembl 74_37 -1 known frame_shift_del c.1524_1521 p.Q508fs 0.004:0.004:0.010:0.010 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 tier1 129 0 0.00 225 31 12.11 KCTD16 0 genome.wustl.edu 37 5 143587084 143587084 + Silent SNP A A T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 143587084 143587084 A T SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known silent c.807 p.S269 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 - - 89 0 0.00 57 19 25.00 KIAA1217 0 genome.wustl.edu 37 10 24784015 24784016 + RNA DEL AA AA - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 10 24784015 24784016 AA - DEL KIAA1217 ENST00000460373 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.003 - - - no_errors KIAA1217 HGNC ENSG00000120549 tier1 15 0 0.00 15 9 37.50 KIAA1217 0 genome.wustl.edu 37 10 24832448 24832448 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 10 24832448 24832448 G A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.4249 p.D1417N 0.856 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 rs200657746 - 50 0 0.00 44 12 21.05 KLHL1 0 genome.wustl.edu 37 13 70293609 70293609 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 13 70293609 70293609 C T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1907 p.R636K 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 62 0 0.00 48 19 28.36 MFAP5 0 genome.wustl.edu 37 12 8800788 8800788 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 12 8800788 8800788 G A SNP MFAP5 ENST00000359478 human ensembl 74_37 -1 known missense c.421 p.R141C 1.000 NULL pfam_MAGP - no_errors MFAP5 HGNC ENSG00000197614 tier1 rs142380998 - 25 0 0.00 29 5 14.71 MMP16 0 genome.wustl.edu 37 8 89053875 89053875 + Silent SNP T T A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 8 89053875 89053875 T A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known silent c.1638 p.P546 0.994 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 71 0 0.00 43 15 25.86 MTMR12 0 genome.wustl.edu 37 5 32229953 32229953 + Nonsense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 32229953 32229953 C T SNP MTMR12 ENST00000382142 human ensembl 74_37 -1 known nonsense c.2175 p.W725* 1.000 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 tier1 - - 73 0 0.00 81 14 14.58 MUC16 0 genome.wustl.edu 37 19 9065920 9065920 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 9065920 9065920 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.21526 p.H7176Y 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 96 0 0.00 72 21 22.58 MUC16 0 genome.wustl.edu 37 19 9088845 9088845 + Silent SNP A A C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 9088845 9088845 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.2970 p.T990 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 173 0 0.00 165 11 6.25 MUC17 0 genome.wustl.edu 37 7 100683252 100683252 + Missense_Mutation SNP C C A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 7 100683252 100683252 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8555 p.T2852K 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 307 0 0.00 869 73 7.75 MUC4 0 genome.wustl.edu 37 3 195513468 195513468 + Missense_Mutation SNP G G C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 3 195513468 195513468 G C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.4983 p.H1661Q 0.005 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 8 0 0.00 8 4 33.33 NT5C1A 0 genome.wustl.edu 37 1 40137639 40137639 + Silent SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 40137639 40137639 G A SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known silent c.72 p.A24 0.057 NULL pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 tier1 - - 65 0 0.00 71 7 8.97 NUAK2 0 genome.wustl.edu 37 1 205277709 205277709 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 205277709 205277709 C T SNP NUAK2 ENST00000367157 human ensembl 74_37 -1 known silent c.504 p.Q168 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK2 HGNC ENSG00000163545 tier1 - - 34 0 0.00 35 16 31.37 NUPL1 0 genome.wustl.edu 37 13 25899186 25899186 + Silent SNP T T C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 13 25899186 25899186 T C SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known silent c.1011 p.H337 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 tier1 - - 108 0 0.00 147 15 9.26 NXPE4 0 genome.wustl.edu 37 11 114453130 114453130 + Missense_Mutation SNP T T C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 114453130 114453130 T C SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.710 p.D237G 0.894 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 tier1 - - 89 0 0.00 135 28 17.18 OR2L2 0 genome.wustl.edu 37 1 248201846 248201846 + Missense_Mutation SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 248201846 248201846 T G SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.277 p.F93V 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 tier1 - - 118 0 0.00 173 23 11.73 OR4A15 0 genome.wustl.edu 37 11 55135537 55135537 + Silent SNP T T C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 55135537 55135537 T C SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known silent c.178 p.L60 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 tier1 - - 72 0 0.00 68 6 8.11 OR4F5 0 genome.wustl.edu 37 1 69495 69495 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 69495 69495 C T SNP OR4F5 ENST00000335137 human ensembl 74_37 +1 known silent c.405 p.V135 0.214 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 OR4F5 HGNC ENSG00000186092 tier1 - - 113 0 0.00 23 45 66.18 OR5D18 0 genome.wustl.edu 37 11 55587684 55587684 + Silent SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 11 55587684 55587684 T G SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known silent c.579 p.T193 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 tier1 - - 113 0 0.00 61 22 26.51 OR7C1 0 genome.wustl.edu 37 19 14910638 14910638 + Frame_Shift_Del DEL A A - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 14910638 14910638 A - DEL OR7C1 ENST00000248073 human ensembl 74_37 -1 known frame_shift_del c.311 p.F104fs 0.017 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 tier1 42 0 0.00 58 5 7.94 PAXIP1-AS2 0 genome.wustl.edu 37 7 154739606 154739606 + Splice_Site SNP A A T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 7 154739606 154739606 A T SNP PAXIP1-AS2 ENST00000449486 human ensembl 74_37 +1 known splice_site c.318-2 e4-2 0.000 - - - no_errors PAXIP1-AS2 HGNC ENSG00000214106 tier1 - - 83 0 0.00 134 30 18.29 PHKB 0 genome.wustl.edu 37 16 47694626 47694626 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 16 47694626 47694626 C T SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.2092 p.R698W 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 tier1 - - 68 0 0.00 59 44 42.72 PHTF1 0 genome.wustl.edu 37 1 114252968 114252968 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 114252968 114252968 G A SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known missense c.1177 p.R393W 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 tier1 rs201449052 - 43 0 0.00 136 19 12.26 PPRC1 0 genome.wustl.edu 37 10 103900281 103900281 + Missense_Mutation SNP C C A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 10 103900281 103900281 C A SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.2016 p.D672E 0.985 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 39 0 0.00 25 3 10.71 PRAM1 0 genome.wustl.edu 37 19 8555579 8555579 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 8555579 8555579 C T SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.1805 p.R602H 0.164 superfamily_SH3_domain superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 tier1 - - 16 0 0.00 7 4 36.36 PRLR 0 genome.wustl.edu 37 5 35072697 35072697 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 35072697 35072697 C T SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.523 p.E175K 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 122 0 0.00 142 57 28.64 PTPRT 0 genome.wustl.edu 37 20 40790029 40790029 + Missense_Mutation SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 20 40790029 40790029 T G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2702 p.K901T 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 65 0 0.00 97 13 11.82 RAP1GAP 0 genome.wustl.edu 37 1 21978087 21978088 + RNA DEL AC AC - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 21978087 21978088 AC - DEL RAP1GAP ENST00000374757 human ensembl 74_37 -1 known rna NULL NULL 0.013:0.018 - - - no_errors RAP1GAP HGNC ENSG00000076864 tier1 16 0 0.00 3 2 40.00 RGPD4 0 genome.wustl.edu 37 2 108488521 108488521 + Missense_Mutation SNP A A T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 108488521 108488521 A T SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.4061 p.E1354V 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 344 0 0.00 358 55 13.32 SALL2 0 genome.wustl.edu 37 14 21992210 21992210 + Missense_Mutation SNP C C A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 14 21992210 21992210 C A SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known missense c.1652 p.S551I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 tier1 - - 66 0 0.00 49 43 46.74 SEMA6A 0 genome.wustl.edu 37 5 115822473 115822473 + Missense_Mutation SNP G G T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 115822473 115822473 G T SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.934 p.L312M 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 86 0 0.00 91 21 18.75 SIPA1L2 0 genome.wustl.edu 37 1 232650417 232650417 + Missense_Mutation SNP T T A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 232650417 232650417 T A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.669 p.K223N 0.322 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 119 0 0.00 172 11 6.01 SLCO5A1 0 genome.wustl.edu 37 8 70617453 70617453 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 8 70617453 70617453 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.1435 p.V479I 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 tier1 rs141622109 - 64 0 0.00 93 16 14.68 SMG6 0 genome.wustl.edu 37 17 1972183 1972183 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 17 1972183 1972183 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.3724 p.E1242K 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 rs144810784 - 41 0 0.00 40 13 24.53 SNORD3B-2 0 genome.wustl.edu 37 17 18967183 18967183 + RNA SNP C C G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 17 18967183 18967183 C G SNP SNORD3B-2 ENST00000571722 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 HGNC ENSG00000262074 tier1 - - 89 0 0.00 93 24 20.51 SYNE1 0 genome.wustl.edu 37 6 152782822 152782822 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 6 152782822 152782822 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.2304 p.K768 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 - - 99 0 0.00 100 23 18.55 T 0 genome.wustl.edu 37 6 166571969 166571969 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 6 166571969 166571969 G A SNP T ENST00000296946 human ensembl 74_37 -1 known missense c.1142 p.A381V 0.001 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 tier1 - - 54 0 0.00 23 16 41.03 TAAR2 0 genome.wustl.edu 37 6 132938884 132938884 + Missense_Mutation SNP T T A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 6 132938884 132938884 T A SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known missense c.461 p.K154I 0.995 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_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 tier1 - - 45 0 0.00 51 17 24.64 TARBP1 0 genome.wustl.edu 37 1 234586194 234586194 + Missense_Mutation SNP A A C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 234586194 234586194 A C SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.1841 p.V614G 0.021 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 tier1 - - 54 0 0.00 127 8 5.93 TDRD5 0 genome.wustl.edu 37 1 179604922 179604922 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 179604922 179604922 G A SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known missense c.1420 p.G474R 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 55 0 0.00 72 4 5.26 TDRD7 0 genome.wustl.edu 37 9 100249516 100249516 + Missense_Mutation SNP A A G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 9 100249516 100249516 A G SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.2978 p.D993G 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 tier1 - - 91 0 0.00 68 28 29.17 THG1L 0 genome.wustl.edu 37 5 157158516 157158516 + Missense_Mutation SNP A A G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 157158516 157158516 A G SNP THG1L ENST00000231198 human ensembl 74_37 +1 known missense c.68 p.Y23C 0.022 NULL pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1 - no_errors THG1L HGNC ENSG00000113272 tier1 - - 69 0 0.00 79 20 20.20 TIMELESS 0 genome.wustl.edu 37 12 56811524 56811524 + Missense_Mutation SNP C C G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 12 56811524 56811524 C G SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.3603 p.Q1201H 0.979 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 68 0 0.00 87 7 7.45 TMEM165 0 genome.wustl.edu 37 4 56291580 56291581 + Frame_Shift_Ins INS - - T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 4 56291580 56291581 - T INS TMEM165 ENST00000381334 human ensembl 74_37 +1 known frame_shift_ins c.936_937 p.S313fs 0.998:1.000 NULL pfam_UPF0016 - no_errors TMEM165 HGNC ENSG00000134851 tier1 94 0 0.00 112 30 21.13 TMEM257 0 genome.wustl.edu 37 X 144909274 144909274 + Missense_Mutation SNP A A T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd X 144909274 144909274 A T SNP TMEM257 ENST00000408967 human ensembl 74_37 +1 known missense c.79 p.I27F 0.001 NULL NULL - no_errors TMEM257 HGNC ENSG00000221870 tier1 - - 26 0 0.00 3 37 92.50 TNXB 0 genome.wustl.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC AC - TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 6 32063513 32063514 AC - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.2117_2116 p.V706fs 0.972:0.989 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 31 0 0.00 20 2 9.09 TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 29 0 0.00 4 30 88.24 TPM3 0 genome.wustl.edu 37 1 154144579 154144579 + Missense_Mutation SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 154144579 154144579 G A SNP TPM3 ENST00000368533 human ensembl 74_37 -1 known missense c.457 p.R153C 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,superfamily_HR1_rho-bd,prints_Tropomyosin - no_errors TPM3 HGNC ENSG00000143549 tier1 rs142738030 - 108 0 0.00 154 31 16.67 TRANK1 0 genome.wustl.edu 37 3 36874506 36874506 + Missense_Mutation SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 3 36874506 36874506 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.6436 p.G2146R 0.003 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 10 0 0.00 6 7 53.85 TRHDE 0 genome.wustl.edu 37 12 73050744 73050744 + Missense_Mutation SNP A A C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 12 73050744 73050744 A C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2887 p.S963R 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 92 0 0.00 112 24 17.65 TTBK1 0 genome.wustl.edu 37 6 43227001 43227001 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 6 43227001 43227001 C T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.1242 p.I414 0.543 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 tier1 - - 47 0 0.00 29 16 35.56 TTN 0 genome.wustl.edu 37 2 179434234 179434234 + Missense_Mutation SNP A A C TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 2 179434234 179434234 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.68921 p.V22974G 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 38 0 0.00 27 13 32.50 TXNIP 0 genome.wustl.edu 37 1 145440490 145440491 + In_Frame_Ins INS - - GCT TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 1 145440490 145440491 - GCT INS TXNIP ENST00000369317 human ensembl 74_37 +1 known in_frame_ins c.796_797 p.268in_frame_insC 1.000:1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 tier1 79 0 0.00 129 39 23.21 URAD 0 genome.wustl.edu 37 13 28562670 28562670 + Silent SNP C C T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 13 28562670 28562670 C T SNP URAD ENST00000332715 human ensembl 74_37 -1 known silent c.105 p.Q35 1.000 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 - no_errors URAD HGNC ENSG00000183463 tier1 - - 58 0 0.00 68 9 11.69 VCAN 0 genome.wustl.edu 37 5 82841381 82841381 + Silent SNP G G A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 5 82841381 82841381 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.9291 p.P3097 0.224 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom 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 - - 243 0 0.00 117 59 33.52 VEGFC 0 genome.wustl.edu 37 4 177608466 177608466 + Missense_Mutation SNP C C A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 4 177608466 177608466 C A SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.1020 p.Q340H 1.000 pfam_CXCXC_repeat pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 tier1 - - 155 0 0.00 127 9 6.62 ZNF441 0 genome.wustl.edu 37 19 11892467 11892467 + Missense_Mutation SNP A A G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 11892467 11892467 A G SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1828 p.T610A 1.000 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 ZNF441 HGNC ENSG00000197044 tier1 - - 48 0 0.00 29 23 44.23 ZNF493 0 genome.wustl.edu 37 19 21607472 21607472 + Missense_Mutation SNP A A T TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 21607472 21607472 A T SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.1627 p.T543S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 tier1 - - 50 0 0.00 64 11 14.47 ZNF501 0 genome.wustl.edu 37 3 44776214 44776214 + Missense_Mutation SNP A A G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 3 44776214 44776214 A G SNP ZNF501 ENST00000396048 human ensembl 74_37 +1 known missense c.301 p.T101A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 tier1 - - 84 0 0.00 48 27 36.00 ZNF583 0 genome.wustl.edu 37 19 56934790 56934790 + Missense_Mutation SNP T T G TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 19 56934790 56934790 T G SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known missense c.763 p.L255V 0.005 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 tier1 - - 49 0 0.00 55 13 19.12 ZNF664 0 genome.wustl.edu 37 12 124496779 124496779 + Missense_Mutation SNP C C A TCGA-VQ-AA6A-01A-11D-A410-08 TCGA-VQ-AA6A-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b0f13d1-7bef-41e4-a401-af2c5bed9ed2 9c09b720-e5da-4fcb-872b-430c0ea3abcd 12 124496779 124496779 C A SNP ZNF664 ENST00000337815 human ensembl 74_37 +1 known missense c.88 p.P30T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF664 HGNC ENSG00000179195 tier1 - - 76 0 0.00 75 41 35.34