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 KIAA1324 0 genome.wustl.edu 37 1 109734025 109734025 + Nonsense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 109734025 109734025 G T SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known nonsense c.1477 p.E493* 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 81 0 0 87 39 30.9524 VPS13D 0 genome.wustl.edu 37 1 12333123 12333123 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 12333123 12333123 G T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.2167 p.D723Y 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 90 0 0 44 10 18.5185 SF3B4 0 genome.wustl.edu 37 1 149898433 149898433 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 149898433 149898433 C T SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known missense c.541 p.D181N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 94 0 0 36 72 66.6667 FLG 0 genome.wustl.edu 37 1 152281867 152281867 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 152281867 152281867 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5495 p.S1832L 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 685 0 0 197 428 68.48 SPEN 0 genome.wustl.edu 37 1 16260458 16260458 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 16260458 16260458 C A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.7723 p.P2575T 0.059 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 247 0 0 145 33 18.5393 HMCN1 0 genome.wustl.edu 37 1 186043953 186043953 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 186043953 186043953 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.8220 p.T2740 0.426 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 57 0 0 21 29 58 HMCN1 0 genome.wustl.edu 37 1 186099668 186099668 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 186099668 186099668 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13069 p.S4357A 0.994 smart_Ig_sub,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 84 0 0 65 6 8.4507 C4BPA 0 genome.wustl.edu 37 1 207287578 207287578 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 207287578 207287578 G T SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known missense c.276 p.Q92H 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 94 0 0 43 43 50 ECE1 0 genome.wustl.edu 37 1 21573722 21573722 + Silent SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 21573722 21573722 G C SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known silent c.1155 p.T385 0.001 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 94 0 0 57 8 12.3077 USH2A 0 genome.wustl.edu 37 1 216270471 216270471 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 216270471 216270471 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4712 p.A1571E 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 43 0 0 20 14 41.1765 H3F3A 0 genome.wustl.edu 37 1 226253371 226253371 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 226253371 226253371 C A SNP H3F3A ENST00000366813 human ensembl 74_37 +1 known missense c.143 p.A48E 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC ENSG00000163041 40 0 0 13 25 65.7895 PRSS38 0 genome.wustl.edu 37 1 228033682 228033682 + Nonsense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 228033682 228033682 G T SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known nonsense c.754 p.E252* 0.783 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 77 0 0 62 6 8.82353 PEX10 0 genome.wustl.edu 37 1 2338237 2338237 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 2338237 2338237 C T SNP PEX10 ENST00000288774 human ensembl 74_37 -1 known missense c.758 p.G253E 0.004 pfam_Pex_N pfam_Pex_N,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX10 HGNC ENSG00000157911 18 0 0 15 3 16.6667 NUDC 0 genome.wustl.edu 37 1 27272100 27272100 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 27272100 27272100 G A SNP NUDC ENST00000321265 human ensembl 74_37 +1 known silent c.867 p.K289 1.000 superfamily_HSP20-like_chaperone pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDC HGNC ENSG00000090273 148 0 0 84 37 30.5785 GPR3 0 genome.wustl.edu 37 1 27720842 27720842 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 27720842 27720842 C T SNP GPR3 ENST00000374024 human ensembl 74_37 +1 known silent c.540 p.G180 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR3 HGNC ENSG00000181773 166 0 0 107 8 6.95652 KIAA0319L 0 genome.wustl.edu 37 1 35906616 35906616 + RNA SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 35906616 35906616 G A SNP KIAA0319L ENST00000485551 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA0319L HGNC ENSG00000142687 86 0 0 39 18 31.5789 ZNF684 0 genome.wustl.edu 37 1 41013022 41013022 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 41013022 41013022 C T SNP ZNF684 ENST00000372699 human ensembl 74_37 +1 known missense c.1027 p.L343F 0.197 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 ZNF684 HGNC ENSG00000117010 79 0 0 56 9 13.8462 SYDE2 0 genome.wustl.edu 37 1 85648868 85648868 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 1 85648868 85648868 G A SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known missense c.1457 p.A486V 0.001 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 96 0 0 22 38 63.3333 SORCS3 0 genome.wustl.edu 37 10 106849594 106849594 + Nonsense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 106849594 106849594 G T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known nonsense c.1090 p.G364* 0.996 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 35 0 0 25 5 16.6667 SORCS3 0 genome.wustl.edu 37 10 106907538 106907538 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 106907538 106907538 T G SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1466 p.I489S 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 53 0 0 21 6 22.2222 PNLIPRP1 0 genome.wustl.edu 37 10 118357380 118357380 + Missense_Mutation SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 118357380 118357380 A T SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known missense c.615 p.E205D 0.996 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 84 0 0 40 7 14.8936 ATE1 0 genome.wustl.edu 37 10 123600613 123600613 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 123600613 123600613 C T SNP ATE1 ENST00000224652 human ensembl 74_37 -1 known missense c.1141 p.V381I 1.000 pfam_Arg-tRNA-P_Trfase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_errors ATE1 HGNC ENSG00000107669 37 0 0 26 4 13.3333 MKI67 0 genome.wustl.edu 37 10 129913464 129913464 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 129913464 129913464 G T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.1208 p.A403D 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 100 0 0 68 4 5.55556 LRRC37A6P 0 genome.wustl.edu 37 10 27537061 27537061 + RNA SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 27537061 27537061 C T SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC37A6P HGNC ENSG00000230445 175 0 0 152 28 15.5556 PTPN20B 0 genome.wustl.edu 37 10 48739393 48739393 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 48739393 48739393 T C SNP PTPN20B ENST00000374233 human ensembl 74_37 -1 known missense c.1192 p.T398A 0.982 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN20B HGNC ENSG00000183675 57 0 0 36 11 23.4043 CALML5 0 genome.wustl.edu 37 10 5540985 5540985 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 5540985 5540985 G T SNP CALML5 ENST00000380332 human ensembl 74_37 -1 known missense c.417 p.F139L 0.457 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML5 HGNC ENSG00000178372 18 0 0 12 8 40 PCDH15 0 genome.wustl.edu 37 10 55721598 55721598 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 55721598 55721598 G C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2923 p.P975A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 61 0 0 52 10 16.129 CTNNA3 0 genome.wustl.edu 37 10 67829243 67829243 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 67829243 67829243 T G SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.1982 p.K661T 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 64 0 0 54 10 15.625 CDH23 0 genome.wustl.edu 37 10 73405660 73405660 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 73405660 73405660 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.1348 p.V450I 0.930 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 45 0 0 47 9 16.0714 KBTBD3 0 genome.wustl.edu 37 11 105929644 105929644 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 105929644 105929644 C T SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known missense c.181 p.E61K 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 31 0 0 30 6 16.6667 MUC2 0 genome.wustl.edu 37 11 1093047 1093047 + Silent SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 1093047 1093047 T C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.4866 p.T1622 0.026 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 19 0 0 17 4 19.0476 MUC2 0 genome.wustl.edu 37 11 1093349 1093349 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 1093349 1093349 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.5168 p.P1723L 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 19 0 0 35 4 10.2564 CLDN25 0 genome.wustl.edu 37 11 113650613 113650613 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 113650613 113650613 G T SNP CLDN25 ENST00000453129 human ensembl 74_37 +1 known missense c.96 p.Q32H 0.987 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN25 HGNC ENSG00000228607 149 0 0 108 37 25.5172 MUC5B 0 genome.wustl.edu 37 11 1264247 1264247 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 1264247 1264247 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.6146 p.A2049V 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC ENSG00000117983 320 0 0 193 45 18.9076 MRGPRX1 0 genome.wustl.edu 37 11 18955509 18955509 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 18955509 18955509 C T SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known missense c.823 p.V275M 0.989 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 100 0 0 43 31 41.8919 NAV2 0 genome.wustl.edu 37 11 19955484 19955484 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 19955484 19955484 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.1763 p.P588L 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 134 0 0 80 15 15.7895 DCDC1 0 genome.wustl.edu 37 11 31128443 31128443 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 31128443 31128443 G T SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.1652 p.S551Y 0.063 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 53 0 0 41 9 18 OR8J1 0 genome.wustl.edu 37 11 56127940 56127940 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 56127940 56127940 A C SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.218 p.N73T 0.084 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 98 0 0 53 46 46.4646 GLYATL1 0 genome.wustl.edu 37 11 58723084 58723084 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 58723084 58723084 G A SNP GLYATL1 ENST00000300079 human ensembl 74_37 +1 known missense c.586 p.E196K 0.000 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 56 0 0 20 24 54.5455 MAP4K2 0 genome.wustl.edu 37 11 64564001 64564001 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 64564001 64564001 G C SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.1597 p.L533V 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 109 0 0 49 16 24.6154 DCHS1 0 genome.wustl.edu 37 11 6648254 6648254 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 6648254 6648254 T C SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.6016 p.T2006A 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 82 0 0 50 11 18.0328 LRP5 0 genome.wustl.edu 37 11 68201141 68201141 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 68201141 68201141 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3835 p.R1279C 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 231 0 0 146 38 20.6522 RBMXL2 0 genome.wustl.edu 37 11 7111053 7111053 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 7111053 7111053 G A SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.702 p.S234 0.988 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 37 0 0 36 9 20 GDPD5 0 genome.wustl.edu 37 11 75188719 75188719 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 75188719 75188719 C A SNP GDPD5 ENST00000336898 human ensembl 74_37 -1 known missense c.62 p.G21V 1.000 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC ENSG00000158555 36 0 0 14 21 60 RSF1 0 genome.wustl.edu 37 11 77531754 77531754 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 77531754 77531754 T C SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.7 p.T3A 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 8 0 0 6 6 50 TAF1D 0 genome.wustl.edu 37 11 93471662 93471662 + Missense_Mutation SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 11 93471662 93471662 A T SNP TAF1D ENST00000323981 human ensembl 74_37 -1 known missense c.72 p.D24E 0.339 NULL NULL - no_errors TAF1D HGNC ENSG00000166012 33 0 0 13 8 38.0952 ETV6 0 genome.wustl.edu 37 12 12006418 12006418 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 12 12006418 12006418 T C SNP ETV6 ENST00000396373 human ensembl 74_37 +1 known missense c.386 p.L129P 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV6 HGNC ENSG00000139083 90 0 0 55 15 21.4286 KMT2D 0 genome.wustl.edu 37 12 49431844 49431844 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 12 49431844 49431844 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.9295 p.R3099C 0.993 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 36 0 0 21 9 30 A2ML1 0 genome.wustl.edu 37 12 8975820 8975820 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 12 8975820 8975820 C T SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known silent c.105 p.S35 0.801 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 94 0 0 61 19 23.75 LOC101930452 0 genome.wustl.edu 37 12 9548853 9548853 + RNA SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 12 9548853 9548853 A T SNP LOC101930452 ENST00000567749 human ensembl 74_37 +1 known rna NULL NULL 0.251 - - - no_errors RP13-735L24.1 Clone_based_vega_gene ENSG00000260423 11 0 0 6 7 53.8462 ZIC2 0 genome.wustl.edu 37 13 100635006 100635006 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 100635006 100635006 G A SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known missense c.688 p.A230T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 85 0 0 61 25 29.0698 ZMYM2 0 genome.wustl.edu 37 13 20632802 20632802 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 20632802 20632802 A G SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.2581 p.T861A 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 167 0 0 138 42 23.3333 RNF6 0 genome.wustl.edu 37 13 26789264 26789264 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 26789264 26789264 C T SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.755 p.R252H 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 131 0 0 81 39 32.5 RXFP2 0 genome.wustl.edu 37 13 32367089 32367089 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 32367089 32367089 T A SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.1650 p.F550L 0.758 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 51 0 0 29 9 23.6842 STARD13 0 genome.wustl.edu 37 13 33741695 33741695 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 33741695 33741695 T G SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.234 p.L78F 0.919 pfam_SAM_2,superfamily_SAM/pointed pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 66 0 0 46 20 30.303 ALG5 0 genome.wustl.edu 37 13 37539797 37539797 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 37539797 37539797 C G SNP ALG5 ENST00000239891 human ensembl 74_37 -1 known missense c.688 p.G230R 1.000 NULL pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 76 0 0 59 38 39.1753 VWA8 0 genome.wustl.edu 37 13 42149950 42149950 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 42149950 42149950 C G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.5296 p.D1766H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 43 0 0 81 8 8.98876 DIAPH3 0 genome.wustl.edu 37 13 60348383 60348383 + Splice_Site SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 60348383 60348383 C A SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known splice_site c.3260-1 e27-1 1.000 - - - no_errors DIAPH3 HGNC ENSG00000139734 35 0 0 34 12 26.087 PCDH20 0 genome.wustl.edu 37 13 61985618 61985618 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 61985618 61985618 T A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2614 p.I872F 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 38 0 0 29 15 34.0909 SLITRK1 0 genome.wustl.edu 37 13 84454217 84454217 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 84454217 84454217 G T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1426 p.L476I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 70 0 0 57 11 16.1765 GPC5 0 genome.wustl.edu 37 13 92346004 92346004 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 13 92346004 92346004 C T SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.889 p.R297W 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 94 0 0 109 22 16.7939 POTEM 0 genome.wustl.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 14 20010235 20010235 A G SNP POTEM ENST00000547848 human ensembl 74_37 -1 known missense c.923 p.V308A 0.879 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 22 0 0 49 3 5.76923 TOX4 0 genome.wustl.edu 37 14 21960818 21960818 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 14 21960818 21960818 C T SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known missense c.1043 p.S348L 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 148 0 0 122 33 21.2903 MDGA2 0 genome.wustl.edu 37 14 47342743 47342743 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 14 47342743 47342743 G T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2645 p.A882D 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 106 0 0 46 21 31.3433 SOS2 0 genome.wustl.edu 37 14 50597407 50597407 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 14 50597407 50597407 C T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.3149 p.G1050D 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 82 0 0 34 17 33.3333 MED6 0 genome.wustl.edu 37 14 71064347 71064347 + Nonsense_Mutation SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 14 71064347 71064347 A T SNP MED6 ENST00000256379 human ensembl 74_37 -1 known nonsense c.170 p.L57* 1.000 pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln - no_errors MED6 HGNC ENSG00000133997 58 0 0 29 7 19.4444 GABRA5 0 genome.wustl.edu 37 15 27185160 27185160 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 27185160 27185160 C T SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known silent c.813 p.T271 0.014 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 52 0 0 28 7 20 GOLGA8O 0 genome.wustl.edu 37 15 32738738 32738738 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 32738738 32738738 C G SNP GOLGA8O ENST00000509311 human ensembl 74_37 -1 novel missense c.1305 p.E435D 0.037 NULL NULL - no_errors GOLGA8O HGNC ENSG00000206127 31 0 0 17 5 22.7273 ZNF770 0 genome.wustl.edu 37 15 35275208 35275208 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 35275208 35275208 G A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.428 p.P143L 0.011 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 84 0 0 50 12 19.3548 PLCB2 0 genome.wustl.edu 37 15 40594697 40594697 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 40594697 40594697 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known silent c.345 p.F115 0.961 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 44 0 0 22 7 24.1379 CATSPER2P1 0 genome.wustl.edu 37 15 44036293 44036293 + RNA SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 44036293 44036293 C G SNP CATSPER2P1 ENST00000429276 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 14 0 0 6 3 33.3333 GALK2 0 genome.wustl.edu 37 15 49448026 49448026 + RNA SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 49448026 49448026 G T SNP GALK2 ENST00000559040 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GALK2 HGNC ENSG00000156958 17 0 0 7 3 30 PYGO1 0 genome.wustl.edu 37 15 55841186 55841186 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 55841186 55841186 A G SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known silent c.57 p.D19 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 56 0 0 36 13 26.5306 CILP 0 genome.wustl.edu 37 15 65490372 65490372 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 65490372 65490372 C T SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.2252 p.R751Q 1.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 243 0 0 107 37 25.6944 ACSBG1 0 genome.wustl.edu 37 15 78466820 78466820 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 78466820 78466820 G A SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known silent c.1749 p.I583 0.342 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 76 0 0 39 21 35 TELO2 0 genome.wustl.edu 37 16 1550474 1550474 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 16 1550474 1550474 C T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.1129 p.R377W 0.122 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 40 0 0 18 7 28 ACSM2A 0 genome.wustl.edu 37 16 20487000 20487000 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 16 20487000 20487000 G A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1003 p.V335I 0.015 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 227 0 0 148 12 7.5 SETD1A 0 genome.wustl.edu 37 16 30970468 30970468 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 16 30970468 30970468 C T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.207 p.S69 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 187 0 0 108 32 22.8571 OR1F1 0 genome.wustl.edu 37 16 3254894 3254894 + Silent SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 16 3254894 3254894 T G SNP OR1F1 ENST00000304646 human ensembl 74_37 +1 known silent c.648 p.A216 0.158 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 OR1F1 HGNC ENSG00000168124 149 0 0 69 22 24.1758 CDH8 0 genome.wustl.edu 37 16 61747882 61747882 + RNA SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 16 61747882 61747882 G A SNP CDH8 ENST00000583483 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors CDH8 HGNC ENSG00000150394 51 0 0 33 15 31.25 KCTD19 0 genome.wustl.edu 37 16 67329237 67329237 + Silent SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 16 67329237 67329237 C G SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known silent c.1320 p.G440 0.977 superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 48 0 0 20 4 16.6667 ADAD2 0 genome.wustl.edu 37 16 84224934 84224934 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 16 84224934 84224934 G A SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.98 p.R33Q 0.000 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 41 0 0 17 8 32 MNT 0 genome.wustl.edu 37 17 2298252 2298252 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 2298252 2298252 C A SNP MNT ENST00000174618 human ensembl 74_37 -1 known missense c.570 p.Q190H 0.995 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 18 0 0 12 7 36.8421 NOS2 0 genome.wustl.edu 37 17 26096028 26096028 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 26096028 26096028 C T SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.2009 p.R670H 1.000 pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 20 0 0 17 5 22.7273 FOXN1 0 genome.wustl.edu 37 17 26862160 26862160 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 26862160 26862160 A G SNP FOXN1 ENST00000226247 human ensembl 74_37 +1 known missense c.1571 p.D524G 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 64 0 0 35 12 25.5319 SUPT6H 0 genome.wustl.edu 37 17 27013704 27013704 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 27013704 27013704 G A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.2597 p.R866H 1.000 smart_YqgF/RNaseH-like_dom,pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 108 0 0 95 16 14.4144 KRT27 0 genome.wustl.edu 37 17 38937500 38937500 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 38937500 38937500 T A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.467 p.N156I 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 18 0 0 8 6 42.8571 MPP3 0 genome.wustl.edu 37 17 41907404 41907404 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 41907404 41907404 C T SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known silent c.294 p.P98 0.995 pfam_L27_C,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 59 0 0 39 8 17.0213 GFAP 0 genome.wustl.edu 37 17 42992741 42992741 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 42992741 42992741 G A SNP GFAP ENST00000253408 human ensembl 74_37 -1 known silent c.114 p.S38 0.037 NULL pfam_IF - no_errors GFAP HGNC ENSG00000131095 33 0 0 27 8 22.8571 CACNA1G 0 genome.wustl.edu 37 17 48680463 48680463 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 48680463 48680463 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.4072 p.V1358I 0.214 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 136 0 0 100 22 18.0328 CA10 0 genome.wustl.edu 37 17 50008434 50008434 + Silent SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 50008434 50008434 C A SNP CA10 ENST00000340813 human ensembl 74_37 -1 known silent c.213 p.R71 0.998 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 168 0 0 108 29 21.1679 APOH 0 genome.wustl.edu 37 17 64216736 64216736 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 64216736 64216736 C T SNP APOH ENST00000205948 human ensembl 74_37 -1 known missense c.540 p.M180I 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 98 0 0 55 21 27.6316 TBC1D16 0 genome.wustl.edu 37 17 77924239 77924239 + Nonsense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 77924239 77924239 G A SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known nonsense c.1228 p.Q410* 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 26 0 0 28 12 30 SLC26A11 0 genome.wustl.edu 37 17 78195370 78195370 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 78195370 78195370 C T SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known missense c.11 p.S4L 0.001 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 29 0 0 18 5 21.7391 TCEB3B 0 genome.wustl.edu 37 18 44560303 44560303 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 18 44560303 44560303 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1333 p.G445S 0.003 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 110 0 0 90 19 17.4312 ZCCHC2 0 genome.wustl.edu 37 18 60243811 60243811 + Nonstop_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 18 60243811 60243811 G T SNP ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known nonstop c.3536 p.*1179L 1.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 28 0 0 6 7 53.8462 PHLPP1 0 genome.wustl.edu 37 18 60639826 60639826 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 18 60639826 60639826 A G SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.3640 p.N1214D 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 54 0 0 33 2 5.71429 TYMS 0 genome.wustl.edu 37 18 673140 673140 + RNA SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 18 673140 673140 A G SNP TYMS ENST00000581920 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TYMS HGNC ENSG00000176890 14 0 0 17 2 10.5263 LRRC30 0 genome.wustl.edu 37 18 7231239 7231239 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 18 7231239 7231239 C T SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known missense c.103 p.L35F 0.995 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 115 0 0 97 70 41.9162 RGS9BP 0 genome.wustl.edu 37 19 33167228 33167228 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 33167228 33167228 A C SNP RGS9BP ENST00000334176 human ensembl 74_37 +1 known missense c.59 p.Y20S 1.000 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 80 0 0 59 43 42.1569 ZNF30 0 genome.wustl.edu 37 19 35434618 35434618 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 35434618 35434618 C G SNP ZNF30 ENST00000303586 human ensembl 74_37 +1 known missense c.751 p.H251D 0.836 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 ZNF30 HGNC ENSG00000168661 27 0 0 35 4 10.2564 ZNF829 0 genome.wustl.edu 37 19 37399305 37399305 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 37399305 37399305 G A SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known silent c.396 p.C132 0.995 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 113 0 0 111 14 11.2 ZNF569 0 genome.wustl.edu 37 19 37904953 37904953 + Nonsense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 37904953 37904953 T A SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known nonsense c.607 p.R203* 0.012 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 ZNF569 HGNC ENSG00000196437 58 0 0 75 8 9.63855 ZNF229 0 genome.wustl.edu 37 19 44933411 44933411 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 44933411 44933411 A C SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known missense c.1545 p.H515Q 0.000 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 ZNF229 HGNC ENSG00000167383 136 0 0 79 29 26.8519 AP2A1 0 genome.wustl.edu 37 19 50308972 50308972 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 50308972 50308972 G C SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.2523 p.K841N 1.000 superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 24 0 0 10 7 41.1765 AP2A1 0 genome.wustl.edu 37 19 50309020 50309020 + Nonsense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 50309020 50309020 G A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known nonsense c.2571 p.W857* 1.000 pfam_Clathrin_a-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 33 0 0 18 7 28 SIGLEC11 0 genome.wustl.edu 37 19 50464021 50464021 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 50464021 50464021 C A SNP SIGLEC11 ENST00000447370 human ensembl 74_37 -1 known missense c.248 p.G83V 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC11 HGNC ENSG00000161640 131 0 0 96 10 9.43396 SPIB 0 genome.wustl.edu 37 19 50926931 50926931 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 50926931 50926931 G T SNP SPIB ENST00000595883 human ensembl 74_37 +1 known missense c.409 p.D137Y 0.954 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIB HGNC ENSG00000269404 42 0 0 25 4 13.7931 KLK12 0 genome.wustl.edu 37 19 51532580 51532580 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 51532580 51532580 C T SNP KLK12 ENST00000319590 human ensembl 74_37 -1 known missense c.725 p.R242Q 0.001 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK12 HGNC ENSG00000186474 153 0 0 72 29 28.7129 ZSCAN1 0 genome.wustl.edu 37 19 58565264 58565264 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 58565264 58565264 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.1072 p.R358W 0.003 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 61 0 0 74 11 12.9412 MYO1F 0 genome.wustl.edu 37 19 8609309 8609309 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 8609309 8609309 C T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1396 p.A466T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 55 0 0 18 15 45.4545 MUC16 0 genome.wustl.edu 37 19 9046692 9046692 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 19 9046692 9046692 G C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34939 p.P11647A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 183 0 0 80 13 13.9785 RGPD4 0 genome.wustl.edu 37 2 108489135 108489135 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 108489135 108489135 G T SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.4675 p.A1559S 1.000 NULL 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 139 0 0 76 31 28.972 LRP2 0 genome.wustl.edu 37 2 170042037 170042037 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 170042037 170042037 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9821 p.S3274N 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 46 0 0 30 11 26.8293 RAD51AP2 0 genome.wustl.edu 37 2 17698511 17698511 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 17698511 17698511 T A SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known missense c.1172 p.K391I 0.023 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 39 0 0 30 10 25 VSNL1 0 genome.wustl.edu 37 2 17830854 17830854 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 17830854 17830854 G A SNP VSNL1 ENST00000295156 human ensembl 74_37 +1 known missense c.340 p.G114S 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors VSNL1 HGNC ENSG00000163032 104 0 0 63 48 43.2432 TTN 0 genome.wustl.edu 37 2 179455023 179455023 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 179455023 179455023 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.53725 p.E17909Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 103 0 0 39 16 29.0909 TTN 0 genome.wustl.edu 37 2 179614932 179614932 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 179614932 179614932 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.12195 p.Q4065H 0.316 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 58 0 0 45 14 23.7288 SESTD1 0 genome.wustl.edu 37 2 180047901 180047901 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 180047901 180047901 G A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.70 p.R24W 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 30 0 0 15 7 31.8182 ZC3H15 0 genome.wustl.edu 37 2 187359984 187359984 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 187359984 187359984 A C SNP ZC3H15 ENST00000337859 human ensembl 74_37 +1 known missense c.100 p.K34Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 17 0 0 14 4 22.2222 AOX1 0 genome.wustl.edu 37 2 201501705 201501705 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 201501705 201501705 G A SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known silent c.2418 p.A806 0.006 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,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 74 0 0 41 10 19.6078 WDR35 0 genome.wustl.edu 37 2 20178532 20178532 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 20178532 20178532 A G SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.416 p.V139A 1.000 smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 147 0 0 146 31 17.5141 WDR35 0 genome.wustl.edu 37 2 20178576 20178576 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 20178576 20178576 A G SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known silent c.372 p.N124 1.000 smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 102 0 0 97 26 21.1382 WDR35 0 genome.wustl.edu 37 2 20178631 20178631 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 20178631 20178631 A G SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.317 p.I106T 1.000 smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 65 0 0 52 14 21.2121 MAP2 0 genome.wustl.edu 37 2 210557575 210557575 + Silent SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 210557575 210557575 G C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.681 p.G227 0.998 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 92 0 0 59 29 32.9545 BARD1 0 genome.wustl.edu 37 2 215593615 215593615 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 215593615 215593615 G A SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known missense c.2119 p.P707S 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 49 0 0 31 14 31.1111 FN1 0 genome.wustl.edu 37 2 216259415 216259415 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 216259415 216259415 G T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.3632 p.T1211N 0.904 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 114 0 0 50 25 33.3333 MARCH4 0 genome.wustl.edu 37 2 217142568 217142568 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 217142568 217142568 G A SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known missense c.692 p.T231M 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 73 0 0 37 10 21.2766 IGFBP5 0 genome.wustl.edu 37 2 217542953 217542953 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 217542953 217542953 C T SNP IGFBP5 ENST00000233813 human ensembl 74_37 -1 known missense c.569 p.G190D 1.000 superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5 - no_errors IGFBP5 HGNC ENSG00000115461 90 0 0 37 17 31.4815 CXCR2P1 0 genome.wustl.edu 37 2 218925609 218925609 + RNA SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 218925609 218925609 G A SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.961 - - - no_errors CXCR2P1 HGNC ENSG00000229754 31 0 0 17 4 19.0476 SCG2 0 genome.wustl.edu 37 2 224462279 224462279 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 224462279 224462279 C T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known silent c.1722 p.P574 0.422 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 62 0 0 39 15 27.7778 INPP5D 0 genome.wustl.edu 37 2 234112803 234112803 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 234112803 234112803 A G SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.2971 p.T991A 0.001 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 18 0 0 16 6 27.2727 PUS10 0 genome.wustl.edu 37 2 61238963 61238963 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 61238963 61238963 A G SNP PUS10 ENST00000316752 human ensembl 74_37 -1 known silent c.63 p.C21 1.000 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 32 0 0 16 6 27.2727 ENSG00000273398 0 genome.wustl.edu 37 2 68415709 68415709 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 68415709 68415709 G T SNP ENSG00000273398 ENST00000406334 human ensembl 74_37 -1 known missense c.127 p.P43T 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RP11-474G23.1 Clone_based_vega_gene ENSG00000273398 79 0 0 48 11 18.6441 SNRNP27 0 genome.wustl.edu 37 2 70122244 70122244 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 70122244 70122244 C T SNP SNRNP27 ENST00000244227 human ensembl 74_37 +1 known missense c.53 p.S18F 1.000 pfam_DUF1777 pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 227 0 0 169 25 12.8866 FAM209A 0 genome.wustl.edu 37 20 55100090 55100090 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 20 55100090 55100090 C G SNP FAM209A ENST00000371328 human ensembl 74_37 +1 known missense c.226 p.Q76E 0.093 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 119 0 0 138 28 16.8675 ZBP1 0 genome.wustl.edu 37 20 56188170 56188170 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 20 56188170 56188170 G A SNP ZBP1 ENST00000541799 human ensembl 74_37 -1 known missense c.719 p.P240L 0.000 NULL pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 27 0 0 38 5 11.6279 GNAS 0 genome.wustl.edu 37 20 57466874 57466874 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 20 57466874 57466874 G A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known silent c.93 p.Q31 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 35 0 0 47 7 12.963 FERMT1 0 genome.wustl.edu 37 20 6060153 6060153 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 20 6060153 6060153 G C SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.1790 p.T597S 1.000 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 69 0 0 63 9 12.5 DIDO1 0 genome.wustl.edu 37 20 61512061 61512061 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 20 61512061 61512061 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.5247 p.P1749 0.090 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 160 0 0 161 33 17.0103 PCMTD2 0 genome.wustl.edu 37 20 62904872 62904872 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 20 62904872 62904872 G A SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known silent c.1005 p.V335 0.997 NULL pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 182 1 0.546448 159 31 16.3158 LIPI 0 genome.wustl.edu 37 21 15579146 15579146 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 21 15579146 15579146 G A SNP LIPI ENST00000344577 human ensembl 74_37 -1 known silent c.99 p.C33 0.006 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 24 0 0 6 8 57.1429 ITSN1 0 genome.wustl.edu 37 21 35166671 35166671 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 21 35166671 35166671 A G SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known silent c.1851 p.Q617 0.987 superfamily_P-loop_NTPase pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 54 0 0 41 8 16.3265 HLCS 0 genome.wustl.edu 37 21 38128931 38128931 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 21 38128931 38128931 C G SNP HLCS ENST00000336648 human ensembl 74_37 -1 known missense c.1921 p.V641L 0.364 tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 160 0 0 105 22 17.3228 BCR 0 genome.wustl.edu 37 22 23630318 23630318 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 22 23630318 23630318 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.2561 p.R854H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 102 0 0 44 15 25.4237 ELFN2 0 genome.wustl.edu 37 22 37769709 37769709 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 22 37769709 37769709 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known silent c.1866 p.A622 0.878 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 31 0 0 17 10 37.037 TRIOBP 0 genome.wustl.edu 37 22 38130551 38130551 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 22 38130551 38130551 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.4208 p.P1403L 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 14 0 0 8 3 27.2727 SHANK3 0 genome.wustl.edu 37 22 51159690 51159690 + Silent SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 22 51159690 51159690 T C SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.3477 p.F1159 0.989 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 22 0 0 8 4 33.3333 NXPE3 0 genome.wustl.edu 37 3 101520287 101520287 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 101520287 101520287 C T SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.302 p.T101I 0.998 pfam_NXPH/NXPE,superfamily_Ig_E-set pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 117 1 0.847458 96 19 16.5217 PDIA5 0 genome.wustl.edu 37 3 122808024 122808024 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 122808024 122808024 C T SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.52 p.P18S 0.998 NULL pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 85 0 0 64 14 17.9487 ROPN1 0 genome.wustl.edu 37 3 123695732 123695732 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 123695732 123695732 C T SNP ROPN1 ENST00000184183 human ensembl 74_37 -1 known silent c.213 p.L71 0.986 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1 HGNC ENSG00000065371 84 0 0 49 16 24.6154 FBLN2 0 genome.wustl.edu 37 3 13672213 13672213 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 13672213 13672213 G A SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.2983 p.E995K 0.972 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 22 0 0 14 6 30 ARHGEF26 0 genome.wustl.edu 37 3 153840211 153840211 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 153840211 153840211 C T SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known silent c.430 p.L144 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 39 0 0 35 4 10.2564 MME 0 genome.wustl.edu 37 3 154866382 154866382 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 154866382 154866382 A C SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.1541 p.N514T 0.991 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 54 0 0 43 10 18.8679 SMC4 0 genome.wustl.edu 37 3 160151539 160151539 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 160151539 160151539 A C SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.3809 p.N1270T 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 36 0 0 36 11 23.4043 MUC4 0 genome.wustl.edu 37 3 195511142 195511142 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 195511142 195511142 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.7309 p.N2437D 0.271 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 9 0 0 13 7 35 TGFBR2 0 genome.wustl.edu 37 3 30713756 30713756 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 30713756 30713756 C T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1156 p.L386F 1.000 pirsf_Transform_growth_fac-b_typ-2,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 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 216 0 0 147 39 20.9677 C3orf14 0 genome.wustl.edu 37 3 62317026 62317026 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 62317026 62317026 A G SNP C3orf14 ENST00000232519 human ensembl 74_37 +1 known silent c.204 p.L68 0.000 NULL NULL - no_errors C3orf14 HGNC ENSG00000114405 70 0 0 77 10 11.4943 CADPS 0 genome.wustl.edu 37 3 62459960 62459960 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 62459960 62459960 G T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.3365 p.T1122N 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 114 0 0 103 17 14.1667 ROBO2 0 genome.wustl.edu 37 3 77623795 77623795 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 77623795 77623795 T G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.2117 p.V706G 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 50 0 0 43 14 24.5614 EPHA6 0 genome.wustl.edu 37 3 97198188 97198188 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 97198188 97198188 A C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2054 p.N685T 0.839 NULL 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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 26 0 0 36 7 16.2791 OR5K1 0 genome.wustl.edu 37 3 98188869 98188869 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 98188869 98188869 T A SNP OR5K1 ENST00000332650 human ensembl 74_37 +1 known missense c.449 p.I150K 0.788 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 OR5K1 HGNC ENSG00000232382 142 0 0 117 28 19.3103 OR5K2 0 genome.wustl.edu 37 3 98217288 98217288 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 3 98217288 98217288 T A SNP OR5K2 ENST00000427338 human ensembl 74_37 +1 known missense c.764 p.I255N 0.026 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K2 HGNC ENSG00000231861 55 0 0 28 5 15.1515 NDST3 0 genome.wustl.edu 37 4 119154234 119154234 + Missense_Mutation SNP A A C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 4 119154234 119154234 A C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1887 p.K629N 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 107 0 0 75 22 22.6804 TENM3 0 genome.wustl.edu 37 4 183609479 183609479 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 4 183609479 183609479 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.2196 p.G732 0.491 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 58 0 0 32 10 23.8095 HTT 0 genome.wustl.edu 37 4 3210535 3210535 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 4 3210535 3210535 G T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.6188 p.R2063L 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 62 0 0 26 11 29.7297 GNPDA2 0 genome.wustl.edu 37 4 44709717 44709717 + RNA SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 4 44709717 44709717 A G SNP GNPDA2 ENST00000511187 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors GNPDA2 HGNC ENSG00000163281 9 0 0 9 5 35.7143 IL8 0 genome.wustl.edu 37 4 74606394 74606394 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 4 74606394 74606394 G T SNP IL8 ENST00000307407 human ensembl 74_37 +1 known missense c.19 p.V7L 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors IL8 HGNC ENSG00000169429 252 0 0 125 34 21.3836 ADH5 0 genome.wustl.edu 37 4 99997596 99997596 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 4 99997596 99997596 G A SNP ADH5 ENST00000296412 human ensembl 74_37 -1 known silent c.672 p.I224 1.000 pfam_ADH_C,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 68 0 0 33 12 26.6667 SLC6A19 0 genome.wustl.edu 37 5 1212459 1212459 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 1212459 1212459 T G SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.523 p.F175V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_orphan pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 175 0 0 68 53 43.8017 FBN2 0 genome.wustl.edu 37 5 127681251 127681251 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 127681251 127681251 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.3015 p.L1005 1.000 pirsf_FBN,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 128 0 0 60 27 31.0345 IK 0 genome.wustl.edu 37 5 140033632 140033632 + Nonsense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 140033632 140033632 C T SNP IK ENST00000417647 human ensembl 74_37 +1 known nonsense c.514 p.Q172* 1.000 pfam_RED_N pfam_RED_N,pfam_RED_C - no_errors IK HGNC ENSG00000113141 35 0 0 19 7 26.9231 PCDHB4 0 genome.wustl.edu 37 5 140501697 140501697 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 140501697 140501697 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.117 p.E39 0.005 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 68 0 0 46 19 29.2308 PCDHGC3 0 genome.wustl.edu 37 5 140856557 140856557 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 140856557 140856557 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.874 p.R292W 0.909 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 164 0 0 86 24 21.8182 DOCK2 0 genome.wustl.edu 37 5 169101311 169101311 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 169101311 169101311 A G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.332 p.K111R 0.998 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 99 0 0 49 15 23.4375 KCNMB1 0 genome.wustl.edu 37 5 169810667 169810667 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 169810667 169810667 C T SNP KCNMB1 ENST00000521859 human ensembl 74_37 -1 known missense c.322 p.D108N 0.000 NULL pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB1 HGNC ENSG00000145936 62 0 0 29 8 21.6216 MSX2 0 genome.wustl.edu 37 5 174156283 174156283 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 174156283 174156283 C T SNP MSX2 ENST00000239243 human ensembl 74_37 +1 known silent c.501 p.L167 0.980 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX2 HGNC ENSG00000120149 87 0 0 38 13 25.4902 PDE8B 0 genome.wustl.edu 37 5 76704759 76704759 + Silent SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 76704759 76704759 C A SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known silent c.1407 p.V469 0.590 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 133 0 0 68 17 20 SEMA5A 0 genome.wustl.edu 37 5 9063138 9063138 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 9063138 9063138 C G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2379 p.W793C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 57 0 0 44 9 16.9811 GRIK2 0 genome.wustl.edu 37 6 102483269 102483269 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 102483269 102483269 G T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.2139 p.R713S 0.996 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 157 0 0 86 24 21.8182 KIAA1919 0 genome.wustl.edu 37 6 111587791 111587791 + Silent SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 111587791 111587791 T A SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known silent c.1026 p.S342 0.988 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 144 0 0 79 26 24.7619 EYA4 0 genome.wustl.edu 37 6 133777756 133777756 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 133777756 133777756 G A SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.340 p.D114N 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 219 0 0 113 41 26.6234 AKAP12 0 genome.wustl.edu 37 6 151674697 151674697 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 151674697 151674697 C G SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.5171 p.T1724S 0.433 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 55 0 0 28 6 17.6471 ABT1 0 genome.wustl.edu 37 6 26598840 26598840 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 26598840 26598840 C T SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known silent c.786 p.S262 0.001 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 48 0 0 25 8 24.2424 VARS 0 genome.wustl.edu 37 6 31759732 31759732 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 31759732 31759732 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.888 p.M296I 1.000 tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 24 0 0 16 2 11.1111 SLC44A4 0 genome.wustl.edu 37 6 31842332 31842332 + RNA SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 31842332 31842332 C G SNP SLC44A4 ENST00000465707 human ensembl 74_37 -1 known rna NULL NULL 0.288 - - - no_errors SLC44A4 HGNC ENSG00000204385 78 0 0 37 8 17.7778 CNPY3 0 genome.wustl.edu 37 6 42897330 42897330 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 42897330 42897330 G A SNP CNPY3 ENST00000372836 human ensembl 74_37 +1 known missense c.22 p.A8T 0.057 NULL pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 8 0 0 13 4 23.5294 DST 0 genome.wustl.edu 37 6 56471811 56471811 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 56471811 56471811 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.7516 p.P2506S 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 65 0 0 26 21 44.6809 DST 0 genome.wustl.edu 37 6 56492889 56492889 + Missense_Mutation SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 56492889 56492889 A T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.4447 p.W1483R 0.999 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 60 0 0 37 9 19.5652 CNR1 0 genome.wustl.edu 37 6 88854325 88854325 + Silent SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 88854325 88854325 G T SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.669 p.A223 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 58 0 0 19 35 64.8148 BACH2 0 genome.wustl.edu 37 6 90660506 90660506 + Missense_Mutation SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 90660506 90660506 T C SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.1319 p.Q440R 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 103 0 0 49 11 18.3333 COQ3 0 genome.wustl.edu 37 6 99842017 99842017 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 6 99842017 99842017 C A SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.39 p.W13C 0.000 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 92 0 0 50 14 21.875 DOCK4 0 genome.wustl.edu 37 7 111509706 111509706 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 111509706 111509706 A G SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.2033 p.L678P 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 32 0 0 16 7 30.4348 MKLN1 0 genome.wustl.edu 37 7 131128366 131128366 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 131128366 131128366 C G SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known missense c.1300 p.Q434E 1.000 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 72 0 0 36 8 18.1818 SSPO 0 genome.wustl.edu 37 7 149489542 149489542 + RNA SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 149489542 149489542 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.894 - - - no_errors SSPO HGNC ENSG00000197558 47 0 0 17 6 26.087 INTS1 0 genome.wustl.edu 37 7 1538054 1538054 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 1538054 1538054 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.1803 p.A601 0.084 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 44 0 0 48 3 5.88235 HNRNPA2B1 0 genome.wustl.edu 37 7 26233297 26233297 + Missense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 26233297 26233297 T A SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known missense c.775 p.S259C 1.000 NULL pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 82 0 0 50 15 23.0769 BBS9 0 genome.wustl.edu 37 7 33384196 33384196 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 33384196 33384196 G C SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.1279 p.A427P 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 73 0 0 71 7 8.97436 NPSR1 0 genome.wustl.edu 37 7 34888196 34888196 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 34888196 34888196 C A SNP NPSR1 ENST00000381539 human ensembl 74_37 +1 known missense c.946 p.Q316K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 204 0 0 130 38 22.619 OGDH 0 genome.wustl.edu 37 7 44721435 44721435 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 44721435 44721435 C T SNP OGDH ENST00000222673 human ensembl 74_37 +1 known silent c.1323 p.V441 0.868 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 120 0 0 92 40 30.303 TBRG4 0 genome.wustl.edu 37 7 45140909 45140909 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 45140909 45140909 C T SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known missense c.1742 p.R581H 1.000 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors TBRG4 HGNC ENSG00000136270 112 0 0 130 11 7.80142 WIPI2 0 genome.wustl.edu 37 7 5256764 5256764 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 5256764 5256764 G A SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known silent c.522 p.A174 0.065 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 63 0 0 54 12 18.1818 CYP51A1 0 genome.wustl.edu 37 7 91761090 91761090 + Nonsense_Mutation SNP T T A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 7 91761090 91761090 T A SNP CYP51A1 ENST00000003100 human ensembl 74_37 -1 known nonsense c.289 p.K97* 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,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 20 0 0 12 6 33.3333 ANGPT1 0 genome.wustl.edu 37 8 108306164 108306164 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 108306164 108306164 C A SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.1038 p.M346I 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 45 0 0 44 39 46.988 SLC35G5 0 genome.wustl.edu 37 8 11189026 11189026 + Silent SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 11189026 11189026 T C SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known silent c.411 p.S137 0.968 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 284 0 0 190 59 23.6948 CSMD3 0 genome.wustl.edu 37 8 114111188 114111188 + Missense_Mutation SNP T T G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 114111188 114111188 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.714 p.E238D 1.000 NULL 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 40 0 0 55 10 15.3846 FAM49B 0 genome.wustl.edu 37 8 130854416 130854416 + Missense_Mutation SNP G G T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 130854416 130854416 G T SNP FAM49B ENST00000401979 human ensembl 74_37 -1 known missense c.947 p.S316Y 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 23 0 0 23 2 8 GPR20 0 genome.wustl.edu 37 8 142367549 142367549 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 142367549 142367549 G A SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known missense c.475 p.R159C 0.155 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 38 0 0 48 7 12.7273 CYP11B2 0 genome.wustl.edu 37 8 143994279 143994279 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 143994279 143994279 A G SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.1144 p.L382 0.061 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 44 0 0 67 8 10.6667 EPPK1 0 genome.wustl.edu 37 8 144940957 144940957 + Silent SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 144940957 144940957 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.6465 p.A2155 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 275 0 0 232 86 27.044 MYOM2 0 genome.wustl.edu 37 8 2088737 2088737 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 2088737 2088737 A G SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.3892 p.K1298E 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 92 0 0 39 13 25 PHYHIP 0 genome.wustl.edu 37 8 22081773 22081773 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 22081773 22081773 G A SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known missense c.424 p.R142C 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 80 0 0 34 9 20.9302 FBXO16 0 genome.wustl.edu 37 8 28314318 28314318 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 28314318 28314318 G C SNP FBXO16 ENST00000521548 human ensembl 74_37 -1 known missense c.472 p.Q158E 0.997 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO16 HGNC ENSG00000214050 100 0 0 52 21 28.7671 RGS20 0 genome.wustl.edu 37 8 54792024 54792024 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 54792024 54792024 G A SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known silent c.372 p.P124 0.001 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 46 0 0 33 7 17.5 RDH10 0 genome.wustl.edu 37 8 74233246 74233246 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 74233246 74233246 G C SNP RDH10 ENST00000240285 human ensembl 74_37 +1 known missense c.704 p.G235A 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH10 HGNC ENSG00000121039 90 0 0 106 13 10.9244 ZFHX4 0 genome.wustl.edu 37 8 77768366 77768366 + Missense_Mutation SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 77768366 77768366 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9209 p.A3070D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 221 0 0 300 30 9.09091 WWP1 0 genome.wustl.edu 37 8 87455005 87455005 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 87455005 87455005 A G SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.1996 p.M666V 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 WWP1 HGNC ENSG00000123124 40 0 0 68 13 16.0494 WWP1 0 genome.wustl.edu 37 8 87464854 87464854 + Silent SNP T T C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 87464854 87464854 T C SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known silent c.2340 p.F780 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 WWP1 HGNC ENSG00000123124 64 0 0 82 8 8.88889 CNGB3 0 genome.wustl.edu 37 8 87738794 87738794 + Missense_Mutation SNP C C G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 87738794 87738794 C G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.303 p.Q101H 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 193 0 0 285 20 6.55738 CNBD1 0 genome.wustl.edu 37 8 88365873 88365873 + Nonsense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 88365873 88365873 C T SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known nonsense c.1162 p.Q388* 0.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 37 0 0 51 15 22.7273 NDUFAF6 0 genome.wustl.edu 37 8 96053846 96053846 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 8 96053846 96053846 G A SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known missense c.469 p.D157N 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 61 0 0 76 19 20 CYLC2 0 genome.wustl.edu 37 9 105767266 105767266 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 105767266 105767266 G A SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.353 p.G118D 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 45 0 0 29 12 29.2683 FRRS1L 0 genome.wustl.edu 37 9 111909347 111909347 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 111909347 111909347 G A SNP FRRS1L ENST00000561981 human ensembl 74_37 -1 known missense c.599 p.S200F 1.000 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain - no_errors FRRS1L HGNC ENSG00000260230 138 0 0 139 10 6.71141 ASTN2 0 genome.wustl.edu 37 9 119770444 119770444 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 119770444 119770444 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.1518 p.T506 0.982 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 57 0 0 27 22 44.898 PTRH1 0 genome.wustl.edu 37 9 130478445 130478445 + RNA SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 130478445 130478445 G A SNP PTRH1 ENST00000429848 human ensembl 74_37 -1 putative rna NULL NULL 0.144 - - - no_errors PTRH1 HGNC ENSG00000187024 168 0 0 72 45 38.4615 SETX 0 genome.wustl.edu 37 9 135156925 135156925 + Missense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 135156925 135156925 G C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.6583 p.L2195V 0.927 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 95 0 0 42 17 28.8136 LINGO2 0 genome.wustl.edu 37 9 27949741 27949741 + Missense_Mutation SNP C C T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 27949741 27949741 C T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.929 p.R310H 0.993 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 104 0 0 49 28 36.3636 NPR2 0 genome.wustl.edu 37 9 35808791 35808791 + Missense_Mutation SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 35808791 35808791 G A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.2927 p.R976H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase 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_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 117 0 0 40 18 31.0345 SPATA31C1 0 genome.wustl.edu 37 9 90536009 90536009 + RNA SNP C C A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 90536009 90536009 C A SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31C1 HGNC ENSG00000230246 361 0 0 220 54 19.708 IARS 0 genome.wustl.edu 37 9 95040490 95040490 + Missense_Mutation SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 9 95040490 95040490 A G SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.824 p.I275T 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 149 0 0 110 28 20.2899 ARHGAP6 0 genome.wustl.edu 37 X 11162141 11162141 + Nonsense_Mutation SNP G G C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c X 11162141 11162141 G C SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known nonsense c.2135 p.S712* 0.148 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 223 0 0 105 64 37.8698 GABRA3 0 genome.wustl.edu 37 X 151514087 151514087 + Silent SNP G G A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c X 151514087 151514087 G A SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known silent c.228 p.D76 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 49 0 0 14 16 53.3333 MAGEH1 0 genome.wustl.edu 37 X 55478927 55478927 + Silent SNP A A G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c X 55478927 55478927 A G SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known silent c.120 p.V40 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 16 0 0 14 6 30 XIST 0 genome.wustl.edu 37 X 73045171 73045171 + RNA SNP A A T TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c X 73045171 73045171 A T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 33 0 0 26 7 21.2121 NPM3 0 genome.wustl.edu 37 10 103541277 103541278 + RNA INS - - C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 10 103541277 103541278 - C INS NPM3 ENST00000474993 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors NPM3 HGNC ENSG00000107833 19 0 0 6 2 25 CEP290 0 genome.wustl.edu 37 12 88487681 88487681 + Frame_Shift_Del DEL T T - TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 12 88487681 88487681 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.3181 p.I1061fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 17 0 0 28 2 6.66667 AKAP13 0 genome.wustl.edu 37 15 86118466 86118467 + Frame_Shift_Ins INS - - CT TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 15 86118466 86118467 - CT INS AKAP13 ENST00000361243 human ensembl 74_37 +1 known frame_shift_ins c.767_768 p.E258fs 0.995:0.986 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 123 0 0 64 18 21.9512 SRRM2 0 genome.wustl.edu 37 16 2809786 2809787 + RNA INS - - C TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 16 2809786 2809787 - C INS SRRM2 ENST00000575870 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors SRRM2 HGNC ENSG00000167978 17 0 0 2 3 60 TP53 0 genome.wustl.edu 37 17 7579470 7579471 + Frame_Shift_Ins INS - - G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 17 7579470 7579471 - G INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.217_216 p.V72fs 0.000:0.001 NULL 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 285 0 0 123 99 44.5946 AFF3 0 genome.wustl.edu 37 2 100217913 100217914 + Frame_Shift_Ins INS - - G TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 100217913 100217914 - G INS AFF3 ENST00000356421 human ensembl 74_37 -1 known frame_shift_ins c.1430_1429 p.H477fs 1.000:0.997 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 28 0 0 14 6 30 KYNU 0 genome.wustl.edu 37 2 143798210 143798211 + Frame_Shift_Ins INS - - A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 143798210 143798211 - A INS KYNU ENST00000264170 human ensembl 74_37 +1 known frame_shift_ins c.1255_1256 p.R421fs 1.000:1.000 superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 31 0 0 23 7 23.3333 TTN-AS1 0 genome.wustl.edu 37 2 179392051 179392052 + RNA INS - - A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 2 179392051 179392052 - A INS TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 22 0 0 11 4 26.6667 CKMT2 0 genome.wustl.edu 37 5 80553677 80553678 + Splice_Site INS - - AA TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 80553677 80553678 - AA INS CKMT2 ENST00000254035 human ensembl 74_37 +1 known splice_site_ins c.879+2_879+1 e6+2 1.000:0.948 - - - no_errors CKMT2 HGNC ENSG00000131730 39 0 0 16 4 20 GPR98 0 genome.wustl.edu 37 5 90281206 90281208 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c 5 90281206 90281208 GAG - DEL GPR98 ENST00000405460 human ensembl 74_37 +1 known in_frame_del c.18019_18021 p.E6007in_frame_del 1.000:1.000:0.985 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 29 0 0 5 7 58.3333 MT-ND5 0 genome.wustl.edu 37 MT 12417 12418 + Frame_Shift_Ins INS - - A TCGA-HU-A4HD-01A-11D-A25D-08 TCGA-HU-A4HD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8304b367-d009-4a3f-ac16-2e203bafc9fd 4d53618f-7d90-47bf-ac32-ff6714f4a60c MT 12417 12418 - A INS MT-ND5 ENST00000361567 human ensembl 74_37 +1 known frame_shift_ins c.81_82 p.N29fs NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 107 0 0 120 125 51.0204