Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA13 0 genome.wustl.edu 37 7 48287988 48287988 + Silent SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 48287988 48287988 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.1812 p.S604 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 36 0 0.00 26 9 25.71 ABCG2 0 genome.wustl.edu 37 4 89015789 89015789 + Frame_Shift_Del DEL A A - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 89015789 89015789 A - DEL ABCG2 ENST00000237612 human ensembl 74_37 -1 known frame_shift_del c.1760 p.L587fs 0.991 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 tier1 48 0 0.00 29 2 6.45 ABHD6 0 genome.wustl.edu 37 3 58242358 58242358 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 58242358 58242358 G A SNP ABHD6 ENST00000295962 human ensembl 74_37 +1 known silent c.45 p.T15 0.004 NULL pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD6 HGNC ENSG00000163686 tier1 - - 83 0 0.00 21 16 43.24 ABT1 0 genome.wustl.edu 37 6 26598649 26598649 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 26598649 26598649 G A SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known missense c.595 p.D199N 0.766 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 41 0 0.00 24 2 7.69 ACOT11 0 genome.wustl.edu 37 1 55059688 55059688 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 55059688 55059688 C T SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known silent c.447 p.F149 0.991 NULL pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 tier1 - - 22 0 0.00 11 7 38.89 ACSL3 0 genome.wustl.edu 37 2 223773522 223773522 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 223773522 223773522 C T SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known missense c.32 p.T11I 0.981 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 tier1 - - 61 0 0.00 21 8 27.59 ACTA2 0 genome.wustl.edu 37 10 90708587 90708587 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 90708587 90708587 G T SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.101 p.P34Q 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 55 0 0.00 32 2 5.88 ADAM21P1 0 genome.wustl.edu 37 14 70713884 70713884 + RNA SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 70713884 70713884 T G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.132 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 - - 44 0 0.00 17 7 29.17 ADAMTS7 0 genome.wustl.edu 37 15 79056071 79056071 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 79056071 79056071 G A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.4710 p.C1570 0.871 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 tier1 - - 136 0 0.00 80 6 6.98 ADARB2 0 genome.wustl.edu 37 10 1405730 1405730 + Frame_Shift_Del DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 1405730 1405730 C - DEL ADARB2 ENST00000381312 human ensembl 74_37 -1 known frame_shift_del c.570 p.Q191fs 0.918 pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 15 0 0.00 4 2 33.33 AEBP1 0 genome.wustl.edu 37 7 44151566 44151566 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 44151566 44151566 C A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.1954 p.R652S 0.913 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 40 0 0.00 20 2 9.09 AFF1 0 genome.wustl.edu 37 4 88056848 88056848 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 88056848 88056848 C G SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.3652 p.P1218A 0.996 NULL pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 62 0 0.00 30 4 11.43 AGBL1 0 genome.wustl.edu 37 15 87099468 87099468 + Silent SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 87099468 87099468 G T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.2871 p.L957 0.018 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 34 0 0.00 31 9 22.50 AGRN 0 genome.wustl.edu 37 1 981395 981395 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 981395 981395 G A SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.2732 p.R911Q 0.350 smart_FacI_MAC,smart_Fol_N,smart_EG-like_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 tier1 - - 59 0 0.00 33 8 19.51 AHDC1 0 genome.wustl.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 27875353 27875355 AGG - DEL AHDC1 ENST00000247087 human ensembl 74_37 -1 known in_frame_del c.3274_3272 p.S1091in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 30 0 0.00 10 3 23.08 AKAP9 0 genome.wustl.edu 37 7 91625013 91625013 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 91625013 91625013 C G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.865 p.L289V 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 31 0 0.00 13 12 48.00 AKAP9 0 genome.wustl.edu 37 7 91641760 91641760 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 91641760 91641760 G C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.3372 p.Q1124H 0.997 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 36 0 0.00 30 7 18.92 AKAP9 0 genome.wustl.edu 37 7 91708688 91708688 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 91708688 91708688 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.7277 p.N2426S 0.998 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 25 0 0.00 20 5 20.00 ALDH1A1 0 genome.wustl.edu 37 9 75531955 75531955 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 75531955 75531955 C T SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known missense c.916 p.A306T 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 tier1 - - 51 0 0.00 22 8 26.67 ALDH1L2 0 genome.wustl.edu 37 12 105440749 105440749 + Splice_Site SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 105440749 105440749 T G SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known splice_site c.1687-2 e14-2 1.000 - - - no_errors ALDH1L2 HGNC ENSG00000136010 tier1 - - 92 0 0.00 14 11 44.00 ANK2 0 genome.wustl.edu 37 4 114209582 114209582 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 114209582 114209582 A G SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.2217 p.G739 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 49 0 0.00 13 14 51.85 ANK2 0 genome.wustl.edu 37 4 114279811 114279811 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 114279811 114279811 C A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.10037 p.S3346Y 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 26 0 0.00 21 5 19.23 ANKRD12 0 genome.wustl.edu 37 18 9257391 9257391 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 18 9257391 9257391 G A SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.4126 p.A1376T 0.574 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 25 0 0.00 17 2 10.53 ANKRD30A 0 genome.wustl.edu 37 10 37490164 37490164 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 37490164 37490164 G A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2612 p.S871N 0.093 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 74 0 0.00 52 4 7.14 AP3M1 0 genome.wustl.edu 37 10 75898113 75898113 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 75898113 75898113 T A SNP AP3M1 ENST00000355264 human ensembl 74_37 -1 known missense c.25 p.N9Y 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M1 HGNC ENSG00000185009 tier1 - - 31 0 0.00 17 3 15.00 APOH 0 genome.wustl.edu 37 17 64216829 64216829 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 64216829 64216829 C T SNP APOH ENST00000205948 human ensembl 74_37 -1 known silent c.447 p.T149 0.001 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 tier1 - - 24 0 0.00 18 8 30.77 AQP1 0 genome.wustl.edu 37 7 30951715 30951715 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 30951715 30951715 C T SNP AQP1 ENST00000434909 human ensembl 74_37 +1 known missense c.371 p.A124V 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_1,tigrfam_MIP - no_errors AQP1 HGNC ENSG00000240583 24 0 0.00 20 2 9.09 ARC 0 genome.wustl.edu 37 8 143694914 143694914 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 143694914 143694914 G T SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.719 p.S240Y 1.000 NULL prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 tier1 - - 58 0 0.00 32 7 17.95 ARFGEF2 0 genome.wustl.edu 37 20 47605928 47605928 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 47605928 47605928 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known silent c.2640 p.P880 0.002 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 25 0 0.00 19 2 9.52 ARHGAP31 0 genome.wustl.edu 37 3 119133256 119133256 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 119133256 119133256 G T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.2480 p.S827I 0.528 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 33 0 0.00 16 7 30.43 ARHGAP42 0 genome.wustl.edu 37 11 100641136 100641136 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 100641136 100641136 G T SNP ARHGAP42 ENST00000298815 human ensembl 74_37 +1 known missense c.217 p.G73C 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ENSG00000165895 tier1 - - 45 0 0.00 21 3 12.50 ARRDC2 0 genome.wustl.edu 37 19 18119552 18119552 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 18119552 18119552 C T SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known missense c.307 p.R103C 0.989 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 tier1 - - 29 0 0.00 8 8 50.00 ARSF 0 genome.wustl.edu 37 X 2990157 2990157 + Silent SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 2990157 2990157 A C SNP ARSF ENST00000359361 human ensembl 74_37 +1 known silent c.102 p.L34 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 tier1 - - 27 0 0.00 5 6 54.55 ASTN1 0 genome.wustl.edu 37 1 177001973 177001973 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 177001973 177001973 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.484 p.A162T 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 27 0 0.00 13 3 18.75 ATM 0 genome.wustl.edu 37 11 108150277 108150277 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 108150277 108150277 T C SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.3344 p.L1115P 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 22 0 0.00 20 2 9.09 ATP13A1 0 genome.wustl.edu 37 19 19757091 19757091 + Silent SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 19757091 19757091 G C SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known silent c.3171 p.T1057 0.923 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 tier1 - - 58 0 0.00 22 6 21.43 ATP2A1 0 genome.wustl.edu 37 16 28909674 28909674 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 28909674 28909674 C T SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.1666 p.R556W 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 75 0 0.00 42 4 8.70 ATP6V0A2 0 genome.wustl.edu 37 12 124229215 124229215 + Silent SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 124229215 124229215 C G SNP ATP6V0A2 ENST00000330342 human ensembl 74_37 +1 known silent c.1398 p.L466 0.999 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A2 HGNC ENSG00000185344 35 0 0.00 13 2 13.33 ATP8B3 0 genome.wustl.edu 37 19 1802537 1802537 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 1802537 1802537 C T SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.1012 p.G338S 0.998 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 tier1 - - 75 0 0.00 16 3 15.79 ATR 0 genome.wustl.edu 37 3 142226817 142226817 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 142226817 142226817 T C SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.4987 p.T1663A 1.000 pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 38 0 0.00 27 9 25.00 AVL9 0 genome.wustl.edu 37 7 32584374 32584374 + Nonsense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 32584374 32584374 C T SNP AVL9 ENST00000404479 human ensembl 74_37 +1 known nonsense c.283 p.R95* 1.000 pfam_ABL9/DENND6_dom,pfam_DUF2347 pfam_ABL9/DENND6_dom,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 tier1 - - 43 0 0.00 22 6 21.43 AZI2 0 genome.wustl.edu 37 3 28378343 28378343 + Nonsense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 28378343 28378343 C T SNP AZI2 ENST00000479665 human ensembl 74_37 -1 known nonsense c.473 p.W158* 1.000 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 tier1 - - 50 0 0.00 24 8 25.00 B4GALT1 0 genome.wustl.edu 37 9 33113814 33113814 + Frame_Shift_Del DEL A A - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 33113814 33113814 A - DEL B4GALT1 ENST00000379731 human ensembl 74_37 -1 known frame_shift_del c.1022 p.I341fs 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT1 HGNC ENSG00000086062 tier1 50 0 0.00 12 2 14.29 BARHL2 0 genome.wustl.edu 37 1 91182393 91182393 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 91182393 91182393 C T SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known silent c.360 p.P120 0.906 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 26 0 0.00 9 3 25.00 BBS7 0 genome.wustl.edu 37 4 122766832 122766832 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 122766832 122766832 G T SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.1057 p.Q353K 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 44 0 0.00 23 4 14.81 BBS9 0 genome.wustl.edu 37 7 33195308 33195308 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 33195308 33195308 G T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.322 p.V108F 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 38 0 0.00 37 2 5.13 BCAS1 0 genome.wustl.edu 37 20 52645408 52645408 + Silent SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 52645408 52645408 T C SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known silent c.246 p.K82 0.696 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 42 0 0.00 24 2 7.69 BCR 0 genome.wustl.edu 37 22 23658094 23658094 + RNA SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 23658094 23658094 T C SNP BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 rs142419707 - 40 0 0.00 21 4 16.00 BDP1 0 genome.wustl.edu 37 5 70782418 70782418 + Nonsense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 70782418 70782418 G T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known nonsense c.1177 p.E393* 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 60 0 0.00 31 2 6.06 BHLHE22 0 genome.wustl.edu 37 8 65494189 65494189 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 65494189 65494189 C G SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.842 p.S281C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 tier1 - - 18 0 0.00 7 4 36.36 BNIP2 0 genome.wustl.edu 37 15 59970119 59970119 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 59970119 59970119 T A SNP BNIP2 ENST00000267859 human ensembl 74_37 -1 known missense c.826 p.S276C 1.000 pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIP2 HGNC ENSG00000140299 tier1 - - 72 0 0.00 20 6 23.08 BPIFA4P 0 genome.wustl.edu 37 20 31787243 31787243 + RNA SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 31787243 31787243 C T SNP BPIFA4P ENST00000375465 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA4P HGNC ENSG00000183566 tier1 - - 48 0 0.00 28 12 30.00 BRCA1 0 genome.wustl.edu 37 17 41244511 41244511 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 41244511 41244511 C G SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.3037 p.E1013Q 0.000 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 tier1 - - 51 0 0.00 34 6 15.00 BRCA2 0 genome.wustl.edu 37 13 32906424 32906424 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 32906424 32906424 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.809 p.S270L 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 41 0 0.00 23 3 11.54 BRDT 0 genome.wustl.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 92447228 92447230 AGC - DEL BRDT ENST00000362005 human ensembl 74_37 +1 known in_frame_del c.1918_1920 p.S643in_frame_del 0.989:0.998:1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 tier1 29 0 0.00 17 2 10.53 BRPF3 0 genome.wustl.edu 37 6 36196795 36196795 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 36196795 36196795 G A SNP BRPF3 ENST00000534400 human ensembl 74_37 +1 putative missense c.3298 p.A1100T 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 52 0 0.00 24 3 11.11 BSND 0 genome.wustl.edu 37 1 55464886 55464886 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 55464886 55464886 C T SNP BSND ENST00000371265 human ensembl 74_37 +1 known silent c.27 p.I9 0.998 NULL NULL - no_errors BSND HGNC ENSG00000162399 tier1 - - 35 0 0.00 21 6 22.22 C16orf46 0 genome.wustl.edu 37 16 81097407 81097407 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 81097407 81097407 G A SNP C16orf46 ENST00000299578 human ensembl 74_37 -1 known missense c.154 p.L52F 0.008 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 70 0 0.00 28 2 6.67 C17orf76-AS1 0 genome.wustl.edu 37 17 16344523 16344524 + RNA INS - - A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 16344523 16344524 - A INS C17orf76-AS1 ENST00000460249 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 49 0 0.00 27 5 15.62 C1QL4 0 genome.wustl.edu 37 12 49726977 49726977 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 49726977 49726977 A G SNP C1QL4 ENST00000334221 human ensembl 74_37 -1 known missense c.577 p.Y193H 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 tier1 - - 36 0 0.00 22 11 33.33 C1orf162 0 genome.wustl.edu 37 1 112020764 112020764 + RNA SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 112020764 112020764 G T SNP C1orf162 ENST00000464591 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors C1orf162 HGNC ENSG00000143110 tier1 - - 35 0 0.00 19 4 17.39 C4orf22 0 genome.wustl.edu 37 4 81284011 81284011 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 81284011 81284011 C T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.215 p.A72V 1.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 66 0 0.00 19 2 9.52 C7orf63 0 genome.wustl.edu 37 7 89912265 89912265 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 89912265 89912265 G C SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known missense c.1432 p.A478P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 tier1 - - 93 0 0.00 57 6 9.52 CA14 0 genome.wustl.edu 37 1 150235229 150235229 + Nonsense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 150235229 150235229 T G SNP CA14 ENST00000369111 human ensembl 74_37 +1 known nonsense c.522 p.Y174* 1.000 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 CA14 HGNC ENSG00000118298 31 0 0.00 19 2 9.52 CACNA1C 0 genome.wustl.edu 37 12 2778165 2778165 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 2778165 2778165 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.4690 p.A1564S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 39 0 0.00 19 2 9.52 CALML3 0 genome.wustl.edu 37 10 5567315 5567315 + Silent SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 5567315 5567315 C A SNP CALML3 ENST00000315238 human ensembl 74_37 +1 known silent c.267 p.A89 0.997 pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML3 HGNC ENSG00000178363 tier1 - - 37 0 0.00 11 4 26.67 CAPN8 0 genome.wustl.edu 37 1 223853341 223853341 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 223853341 223853341 G A SNP CAPN8 ENST00000366872 human ensembl 74_37 -1 known missense c.8 p.A3V 0.138 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 38 0 0.00 27 3 10.00 CARD11 0 genome.wustl.edu 37 7 2976751 2976751 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 2976751 2976751 T G SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.1261 p.M421L 0.995 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 42 0 0.00 17 3 15.00 CASC5 0 genome.wustl.edu 37 15 40914281 40914281 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 40914281 40914281 A G SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.1897 p.S633G 0.394 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 37 0 0.00 15 3 16.67 CASP8 0 genome.wustl.edu 37 2 202131421 202131421 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 202131421 202131421 G A SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.389 p.R130K 0.040 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 44 0 0.00 31 2 5.88 CCAR2 0 genome.wustl.edu 37 8 22473234 22473234 + Nonsense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 22473234 22473234 C T SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known nonsense c.1417 p.Q473* 0.999 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 tier1 - - 31 0 0.00 7 10 58.82 CCDC157 0 genome.wustl.edu 37 22 30768244 30768244 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 30768244 30768244 C G SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known missense c.1304 p.A435G 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 tier1 - - 56 0 0.00 26 6 18.18 CCDC159 0 genome.wustl.edu 37 19 11459651 11459651 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 11459651 11459651 C T SNP CCDC159 ENST00000590636 human ensembl 74_37 +1 known missense c.31 p.R11W 0.332 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 tier1 - - 47 0 0.00 20 3 13.04 CCDC30 0 genome.wustl.edu 37 1 43004883 43004883 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 43004883 43004883 A G SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.157 p.N53D 0.999 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 tier1 - - 89 0 0.00 49 4 7.55 CCDC38 0 genome.wustl.edu 37 12 96266178 96266178 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 96266178 96266178 C T SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.1339 p.D447N 0.999 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 tier1 - - 65 0 0.00 33 6 15.38 CCDC88A 0 genome.wustl.edu 37 2 55616015 55616015 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 55616015 55616015 T G SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.172 p.K58Q 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 68 0 0.00 34 5 12.82 CCDC88C 0 genome.wustl.edu 37 14 91787488 91787490 + In_Frame_Del DEL CTT CTT - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 91787488 91787490 CTT - DEL CCDC88C ENST00000389857 human ensembl 74_37 -1 known in_frame_del c.1503_1501 p.K501in_frame_del 1.000:1.000:1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 tier1 33 0 0.00 10 2 16.67 CD244 0 genome.wustl.edu 37 1 160811200 160811200 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 160811200 160811200 C T SNP CD244 ENST00000368033 human ensembl 74_37 -1 known missense c.470 p.C157Y 0.980 pfscan_Ig-like_dom pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom - no_errors CD244 HGNC ENSG00000122223 tier1 - - 41 0 0.00 22 4 15.38 CDH7 0 genome.wustl.edu 37 18 63530073 63530073 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 18 63530073 63530073 A G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1784 p.N595S 0.984 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 22 0 0.00 6 4 40.00 CDK13 0 genome.wustl.edu 37 7 40127865 40127865 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 40127865 40127865 A C SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.3170 p.N1057T 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 51 0 0.00 21 3 12.50 CDKN2A 0 genome.wustl.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 21971111 21971111 G A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 27 0 0.00 3 2 40.00 CDKN2AIP 0 genome.wustl.edu 37 4 184367434 184367434 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 184367434 184367434 G C SNP CDKN2AIP ENST00000504169 human ensembl 74_37 +1 known missense c.597 p.Q199H 0.958 NULL pfam_DUF3469,pfscan_dsRNA-bd_dom - no_errors CDKN2AIP HGNC ENSG00000168564 tier1 - - 49 0 0.00 21 8 27.59 CENPT 0 genome.wustl.edu 37 16 67866141 67866141 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 67866141 67866141 G A SNP CENPT ENST00000219172 human ensembl 74_37 -1 known silent c.279 p.I93 0.989 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 34 0 0.00 26 3 10.34 CEP290 0 genome.wustl.edu 37 12 88519038 88519038 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 88519038 88519038 G C SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.1174 p.L392V 0.992 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 80 0 0.00 51 12 19.05 CERK 0 genome.wustl.edu 37 22 47108185 47108185 + Silent SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 47108185 47108185 T G SNP CERK ENST00000216264 human ensembl 74_37 -1 known silent c.385 p.R129 0.263 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 tier1 - - 75 0 0.00 42 13 23.64 CFLAR 0 genome.wustl.edu 37 2 201997801 201997801 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 201997801 201997801 T A SNP CFLAR ENST00000309955 human ensembl 74_37 +1 known missense c.331 p.S111T 0.360 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_ICE_p20 - no_errors CFLAR HGNC ENSG00000003402 tier1 - - 72 0 0.00 52 4 7.14 CHD8 0 genome.wustl.edu 37 14 21867861 21867861 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 21867861 21867861 C G SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.4821 p.E1607D 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 tier1 - - 36 0 0.00 16 5 23.81 CHST1 0 genome.wustl.edu 37 11 45671517 45671517 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 45671517 45671517 G T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.957 p.F319L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 52 0 0.00 23 5 17.86 CLCA2 0 genome.wustl.edu 37 1 86905910 86905910 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 86905910 86905910 A G SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.1283 p.N428S 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 tier1 - - 40 0 0.00 23 5 17.86 CLEC1B 0 genome.wustl.edu 37 12 10151696 10151696 + Nonsense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 10151696 10151696 G A SNP CLEC1B ENST00000298527 human ensembl 74_37 -1 known nonsense c.4 p.Q2* 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1B HGNC ENSG00000165682 38 0 0.00 19 2 9.52 CLEC9A 0 genome.wustl.edu 37 12 10194069 10194069 + RNA SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 10194069 10194069 C G SNP CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.571 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 - - 39 0 0.00 20 6 23.08 CLVS1 0 genome.wustl.edu 37 8 62212688 62212688 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 62212688 62212688 G A SNP CLVS1 ENST00000325897 human ensembl 74_37 +1 known missense c.302 p.R101H 1.000 superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 tier1 - - 38 0 0.00 25 4 13.79 CMPK2 0 genome.wustl.edu 37 2 7005185 7005185 + Frame_Shift_Del DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 7005185 7005185 C - DEL CMPK2 ENST00000458098 human ensembl 74_37 -1 known frame_shift_del c.643 p.D215fs 0.000 pirsf_UMP-CMP_kinase_mit superfamily_P-loop_NTPase,pirsf_UMP-CMP_kinase_mit - no_errors CMPK2 HGNC ENSG00000134326 tier1 26 0 0.00 8 2 20.00 CMYA5 0 genome.wustl.edu 37 5 79084824 79084824 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 79084824 79084824 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.11586 p.L3862 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 46 0 0.00 4 3 42.86 CNTN2 0 genome.wustl.edu 37 1 205035662 205035662 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 205035662 205035662 C T SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.1910 p.P637L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 tier1 - - 40 0 0.00 11 13 54.17 COL10A1 0 genome.wustl.edu 37 6 116442377 116442377 + Frame_Shift_Del DEL G G - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 116442377 116442377 G - DEL COL10A1 ENST00000243222 human ensembl 74_37 -1 known frame_shift_del c.902 p.P301fs 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 tier1 24 0 0.00 4 2 33.33 COL11A1 0 genome.wustl.edu 37 1 103544425 103544425 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 103544425 103544425 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.277 p.G93R 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 62 0 0.00 42 5 10.64 COL27A1 0 genome.wustl.edu 37 9 117064372 117064372 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 117064372 117064372 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.4856 p.G1619E 0.982 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 tier1 - - 65 0 0.00 29 5 14.71 COLEC12 0 genome.wustl.edu 37 18 334900 334900 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 18 334900 334900 A T SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.1658 p.V553D 0.692 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 60 0 0.00 41 3 6.82 CORO6 0 genome.wustl.edu 37 17 27948355 27948355 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 27948355 27948355 G A SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known missense c.85 p.R29C 1.000 pfam_DUF1899 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 26 0 0.00 15 2 11.76 CPS1 0 genome.wustl.edu 37 2 211471635 211471635 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 211471635 211471635 G A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.2180 p.R727Q 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 30 0 0.00 13 7 35.00 CRP 0 genome.wustl.edu 37 1 159683718 159683718 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 159683718 159683718 T C SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.272 p.Y91C 0.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 tier1 - - 43 0 0.00 25 4 13.79 CRTAM 0 genome.wustl.edu 37 11 122733129 122733129 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 122733129 122733129 C A SNP CRTAM ENST00000533709 human ensembl 74_37 +1 known missense c.13 p.L5M 0.001 NULL NULL - no_errors CRTAM HGNC ENSG00000109943 tier1 - - 28 0 0.00 18 6 25.00 CSF2RB 0 genome.wustl.edu 37 22 37334439 37334439 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 37334439 37334439 G C SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.2607 p.Q869H 0.000 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 94 0 0.00 48 3 5.88 CSPG4 0 genome.wustl.edu 37 15 75968663 75968663 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 75968663 75968663 G T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.6197 p.T2066N 0.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 38 0 0.00 16 2 11.11 CSTF3 0 genome.wustl.edu 37 11 33129939 33129939 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 33129939 33129939 A T SNP CSTF3 ENST00000323959 human ensembl 74_37 -1 known missense c.251 p.V84D 1.000 smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 tier1 - - 90 0 0.00 40 15 27.27 CYFIP1 0 genome.wustl.edu 37 15 22999460 22999460 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 22999460 22999460 G A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.3332 p.G1111E 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 31 0 0.00 13 6 31.58 CYFIP1 0 genome.wustl.edu 37 15 22998467 22998467 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 22998467 22998467 G A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known silent c.3159 p.K1053 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 43 0 0.00 27 3 10.00 CYP11B1 0 genome.wustl.edu 37 8 143961103 143961103 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 143961103 143961103 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.127 p.R43W 0.228 pfam_Cyt_P450,prints_Cyt_P450_mitochondrial 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_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 31 0 0.00 14 3 17.65 CYP2G1P 0 genome.wustl.edu 37 19 41398059 41398059 + Splice_Site SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 41398059 41398059 T A SNP CYP2G1P ENST00000252909 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.984 - - - no_errors CYP2G1P HGNC ENSG00000130612 9 0 0.00 7 2 22.22 CYP4F22 0 genome.wustl.edu 37 19 15640544 15640544 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 15640544 15640544 C A SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.247 p.Q83K 0.043 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 tier1 - - 73 0 0.00 37 14 26.92 DAB2IP 0 genome.wustl.edu 37 9 124536636 124536637 + Frame_Shift_Ins INS - - C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 124536636 124536637 - C INS DAB2IP ENST00000408936 human ensembl 74_37 +1 known frame_shift_ins c.3065_3066 p.H1025fs 1.000:0.988 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 35 0 0.00 24 3 11.11 DAGLA 0 genome.wustl.edu 37 11 61503792 61503792 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 61503792 61503792 G T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.1341 p.M447I 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 44 0 0.00 19 2 9.52 DBH 0 genome.wustl.edu 37 9 136521726 136521726 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 136521726 136521726 G A SNP DBH ENST00000393056 human ensembl 74_37 +1 known missense c.1516 p.A506T 0.006 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 35 0 0.00 40 3 6.98 DCBLD2 0 genome.wustl.edu 37 3 98520488 98520488 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 98520488 98520488 T C SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.1676 p.K559R 1.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 tier1 - - 50 0 0.00 25 4 13.79 DCLK1 0 genome.wustl.edu 37 13 36410265 36410265 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 36410265 36410265 T G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1134 p.E378D 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 52 0 0.00 12 10 45.45 DCLRE1C 0 genome.wustl.edu 37 10 14951146 14951146 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 14951146 14951146 G A SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.1340 p.T447I 0.011 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 40 0 0.00 17 3 15.00 DERA 0 genome.wustl.edu 37 12 16111249 16111249 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 16111249 16111249 C G SNP DERA ENST00000428559 human ensembl 74_37 +1 known missense c.257 p.A86G 0.918 pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC - no_errors DERA HGNC ENSG00000023697 tier1 - - 60 0 0.00 35 14 28.57 DHRS4-AS1 0 genome.wustl.edu 37 14 24422949 24422949 + RNA SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 24422949 24422949 C G SNP DHRS4-AS1 ENST00000553454 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DHRS4-AS1 HGNC ENSG00000215256 tier1 - - 51 0 0.00 44 4 8.33 DICER1 0 genome.wustl.edu 37 14 95569780 95569780 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 95569780 95569780 A C SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.3953 p.L1318R 1.000 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 38 0 0.00 23 3 11.54 DIXDC1 0 genome.wustl.edu 37 11 111853111 111853111 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 111853111 111853111 G A SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known missense c.815 p.G272E 0.021 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 tier1 - - 71 0 0.00 40 7 14.89 DNAH10 0 genome.wustl.edu 37 12 124413856 124413856 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 124413856 124413856 A T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.11987 p.N3996I 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 29 0 0.00 6 5 45.45 DNAH10 0 genome.wustl.edu 37 12 124337784 124337784 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 124337784 124337784 A C SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.5969 p.K1990T 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 64 0 0.00 37 3 7.50 DNAH2 0 genome.wustl.edu 37 17 7690293 7690293 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 7690293 7690293 T C SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.6545 p.M2182T 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 29 0 0.00 12 7 36.84 DNAH3 0 genome.wustl.edu 37 16 20952734 20952734 + Silent SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 20952734 20952734 G T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.11643 p.I3881 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 40 0 0.00 34 4 10.53 DNAH3 0 genome.wustl.edu 37 16 21145766 21145766 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 21145766 21145766 A T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.896 p.I299N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 25 0 0.00 16 3 15.79 DNAH8 0 genome.wustl.edu 37 6 38917247 38917247 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 38917247 38917247 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.11498 p.G3833V 0.958 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 54 0 0.00 36 9 19.57 DNAJC17 0 genome.wustl.edu 37 15 41068808 41068808 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 41068808 41068808 G C SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.313 p.R105G 0.988 NULL pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 tier1 - - 27 0 0.00 14 4 22.22 DOCK2 0 genome.wustl.edu 37 5 169267766 169267766 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 169267766 169267766 C A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2709 p.F903L 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 54 0 0.00 31 6 16.22 DOCK2 0 genome.wustl.edu 37 5 169506006 169506006 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 169506006 169506006 G C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5022 p.K1674N 0.201 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 46 0 0.00 23 5 17.86 DOCK6 0 genome.wustl.edu 37 19 11333578 11333578 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 11333578 11333578 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.3073 p.A1025T 0.999 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 24 0 0.00 23 4 14.81 DOPEY1 0 genome.wustl.edu 37 6 83855342 83855342 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 83855342 83855342 G T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.5641 p.V1881F 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 52 0 0.00 19 2 9.52 DPP4 0 genome.wustl.edu 37 2 162868348 162868348 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 162868348 162868348 C G SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.1787 p.R596T 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 98 0 0.00 33 3 8.33 DPP4 0 genome.wustl.edu 37 2 162873287 162873287 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 162873287 162873287 T A SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.1558 p.N520Y 0.728 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 60 0 0.00 39 3 7.14 DSC2 0 genome.wustl.edu 37 18 28662987 28662987 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 18 28662987 28662987 T G SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.982 p.M328L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 tier1 - - 49 0 0.00 40 8 16.67 DSCAM 0 genome.wustl.edu 37 21 41684007 41684007 + Splice_Site DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 21 41684007 41684007 C - DEL DSCAM ENST00000400454 human ensembl 74_37 -1 known splice_site_del c.2062+1 e9+1 1.000 - - - no_errors DSCAM HGNC ENSG00000171587 tier1 46 0 0.00 11 2 15.38 DSCAML1 0 genome.wustl.edu 37 11 117391983 117391983 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 117391983 117391983 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.1255 p.E419K 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 46 0 0.00 29 4 12.12 DSCR8 0 genome.wustl.edu 37 21 39494412 39494412 + RNA SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 21 39494412 39494412 C A SNP DSCR8 ENST00000465532 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DSCR8 HGNC ENSG00000198054 tier1 - - 49 0 0.00 17 7 29.17 DST 0 genome.wustl.edu 37 6 56358968 56358968 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 56358968 56358968 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.20141 p.A6714V 1.000 pfam_Spectrin_repeat,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 tier1 - - 41 0 0.00 19 3 13.64 DYNC1I1 0 genome.wustl.edu 37 7 95616416 95616416 + Silent SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 95616416 95616416 T C SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known silent c.843 p.D281 1.000 superfamily_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 tier1 - - 60 0 0.00 25 6 19.35 EED 0 genome.wustl.edu 37 11 85961397 85961397 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 85961397 85961397 C G SNP EED ENST00000263360 human ensembl 74_37 +1 known missense c.174 p.N58K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 tier1 - - 62 0 0.00 25 9 26.47 EFCAB10 0 genome.wustl.edu 37 7 105210019 105210019 + Splice_Site SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 105210019 105210019 C T SNP EFCAB10 ENST00000480514 human ensembl 74_37 -1 known splice_site c.107-1 e2-1 1.000 - - - no_errors EFCAB10 HGNC ENSG00000185055 tier1 - - 47 0 0.00 21 11 34.38 EFCAB5 0 genome.wustl.edu 37 17 28418937 28418937 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 28418937 28418937 G T SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.3986 p.R1329L 0.997 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 47 0 0.00 36 2 5.26 EHBP1L1 0 genome.wustl.edu 37 11 65346828 65346828 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 65346828 65346828 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.179 p.P60L 0.999 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 23 0 0.00 14 3 17.65 EHHADH 0 genome.wustl.edu 37 3 184922287 184922287 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 184922287 184922287 C A SNP EHHADH ENST00000231887 human ensembl 74_37 -1 known missense c.827 p.R276M 0.716 NULL pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 34 0 0.00 21 3 12.50 EIF3L 0 genome.wustl.edu 37 22 38251609 38251609 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 38251609 38251609 C T SNP EIF3L ENST00000412331 human ensembl 74_37 +1 known missense c.331 p.P111S 1.000 NULL pfam_eIF3l - no_errors EIF3L HGNC ENSG00000100129 tier1 - - 27 0 0.00 12 3 20.00 EIF4G3 0 genome.wustl.edu 37 1 21307562 21307562 + Frame_Shift_Del DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 21307562 21307562 C - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.210 p.P71fs 0.649 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 tier1 42 0 0.00 27 2 6.90 EIF5B 0 genome.wustl.edu 37 2 99984963 99984963 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 99984963 99984963 A T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.1296 p.E432D 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 32 0 0.00 15 2 11.76 ENPP4 0 genome.wustl.edu 37 6 46107441 46107441 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 46107441 46107441 C T SNP ENPP4 ENST00000321037 human ensembl 74_37 +1 known silent c.121 p.L41 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 46 0 0.00 16 2 11.11 ENPP6 0 genome.wustl.edu 37 4 185012359 185012359 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 185012359 185012359 C T SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known missense c.1294 p.A432T 0.462 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 33 0 0.00 13 2 13.33 ENSG00000205653 0 genome.wustl.edu 37 6 203769 203769 + RNA SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 203769 203769 A G SNP ENSG00000205653 ENST00000381078 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP3-416J7.5 Clone_based_vega_gene ENSG00000205653 tier1 - - 40 0 0.00 16 3 15.79 ENSG00000214305 0 genome.wustl.edu 37 11 107650471 107650471 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 107650471 107650471 C T SNP ENSG00000214305 ENST00000398067 human ensembl 74_37 +1 novel missense c.229 p.P77S 0.000 NULL NULL - no_errors AP001024.1 Clone_based_ensembl_gene ENSG00000214305 tier1 - - 22 0 0.00 11 3 21.43 ENSG00000237850 0 genome.wustl.edu 37 15 28599774 28599774 + RNA SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 28599774 28599774 C T SNP ENSG00000237850 ENST00000568624 human ensembl 74_37 -1 known rna NULL NULL 0.916 - - - no_errors RP11-483E23.2 Clone_based_vega_gene ENSG00000237850 tier1 - - 58 0 0.00 19 3 13.64 ENSG00000254154 0 genome.wustl.edu 37 1 177898865 177898865 + RNA SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 177898865 177898865 G A SNP ENSG00000254154 ENST00000354921 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-798P15.3 Clone_based_vega_gene ENSG00000254154 tier1 - - 60 0 0.00 27 5 15.62 ENSG00000258938 0 genome.wustl.edu 37 14 36295691 36295691 + RNA SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 36295691 36295691 C A SNP ENSG00000258938 ENST00000555918 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors RP11-317N8.5 Clone_based_vega_gene ENSG00000258938 tier1 - - 78 0 0.00 28 13 31.71 ENSG00000266999 0 genome.wustl.edu 37 17 34236062 34236062 + RNA SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 34236062 34236062 G A SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 tier1 - - 28 0 0.00 16 3 15.79 ENSG00000272234 0 genome.wustl.edu 37 5 42806831 42806831 + RNA SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 42806831 42806831 G C SNP ENSG00000272234 ENST00000606056 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2325A15.5 Clone_based_vega_gene ENSG00000272234 tier1 - - 11 0 0.00 4 4 50.00 ENSG00000272578 0 genome.wustl.edu 37 22 24034484 24034484 + RNA SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 24034484 24034484 G T SNP ENSG00000272578 ENST00000417194 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AP000347.2 Clone_based_vega_gene ENSG00000272578 tier1 - - 42 0 0.00 40 4 9.09 EPDR1 0 genome.wustl.edu 37 7 37960276 37960276 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 37960276 37960276 A G SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known missense c.95 p.Q32R 0.086 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 tier1 - - 76 0 0.00 55 7 11.29 EPHB1 0 genome.wustl.edu 37 3 134977896 134977896 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 134977896 134977896 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.2889 p.K963 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 43 0 0.00 16 4 20.00 FAM13B 0 genome.wustl.edu 37 5 137295438 137295438 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 137295438 137295438 C G SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.1308 p.K436N 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 tier1 - - 40 0 0.00 11 4 26.67 FAM178A 0 genome.wustl.edu 37 10 102676648 102676648 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 102676648 102676648 G A SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.506 p.R169Q 0.028 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 tier1 - - 27 0 0.00 11 3 21.43 FAM182B 0 genome.wustl.edu 37 20 25840388 25840388 + RNA SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 25840388 25840388 C T SNP FAM182B ENST00000584356 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 20 0 0.00 13 4 22.22 FAM208B 0 genome.wustl.edu 37 10 5804539 5804539 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 5804539 5804539 C G SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.7219 p.L2407V 1.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 tier1 - - 80 0 0.00 46 5 9.80 FAM228A 0 genome.wustl.edu 37 2 24402031 24402031 + Frame_Shift_Del DEL G G - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 24402031 24402031 G - DEL FAM228A ENST00000456591 human ensembl 74_37 +1 known frame_shift_del c.214 p.E72fs 1.000 NULL NULL - no_errors FAM228A HGNC ENSG00000186453 tier1 104 0 0.00 42 6 12.50 FAM230C 0 genome.wustl.edu 37 22 21663812 21663812 + RNA SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 21663812 21663812 A T SNP FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 - - 95 0 0.00 56 9 13.85 FAM57B 0 genome.wustl.edu 37 16 30036934 30036934 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 30036934 30036934 C T SNP FAM57B ENST00000564806 human ensembl 74_37 -1 novel missense c.503 p.R168H 0.000 pfscan_TLC-dom pfam_TLC-dom,pfscan_TLC-dom - no_errors FAM57B HGNC ENSG00000149926 tier1 - - 41 0 0.00 10 12 54.55 FARP1 0 genome.wustl.edu 37 13 99092956 99092956 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 99092956 99092956 G A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2755 p.E919K 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 30 0 0.00 17 6 26.09 FBXL13 0 genome.wustl.edu 37 7 102667940 102667940 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 102667940 102667940 G A SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.283 p.R95W 0.063 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 64 0 0.00 40 3 6.98 FBXL5 0 genome.wustl.edu 37 4 15638248 15638248 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 15638248 15638248 A G SNP FBXL5 ENST00000341285 human ensembl 74_37 -1 known missense c.635 p.V212A 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,pfam_Leu-rich_rpt,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL5 HGNC ENSG00000118564 tier1 - - 40 0 0.00 13 6 31.58 FBXO3 0 genome.wustl.edu 37 11 33777435 33777435 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 33777435 33777435 C T SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known missense c.560 p.R187K 1.000 smart_SMI1/KNR4_like_dom pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 tier1 - - 20 0 0.00 30 7 18.92 FBXO4 0 genome.wustl.edu 37 5 41927260 41927260 + Frame_Shift_Del DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 41927260 41927260 C - DEL FBXO4 ENST00000281623 human ensembl 74_37 +1 known frame_shift_del c.335 p.S112fs 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO4 HGNC ENSG00000151876 tier1 44 0 0.00 18 10 35.71 FCHSD2 0 genome.wustl.edu 37 11 72613670 72613670 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 72613670 72613670 T C SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known missense c.842 p.Y281C 1.000 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 tier1 - - 20 0 0.00 15 4 21.05 FCRL5 0 genome.wustl.edu 37 1 157514250 157514250 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 157514250 157514250 A G SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.646 p.S216P 0.004 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 33 0 0.00 29 6 17.14 FDFT1 0 genome.wustl.edu 37 8 11689141 11689141 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 11689141 11689141 C T SNP FDFT1 ENST00000220584 human ensembl 74_37 +1 known missense c.994 p.P332S 0.999 superfamily_Terpenoid_synth,tigrfam_Squal_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth - no_errors FDFT1 HGNC ENSG00000079459 43 0 0.00 31 2 6.06 FGF14 0 genome.wustl.edu 37 13 102379085 102379085 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 102379085 102379085 A T SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known missense c.499 p.Y167N 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 tier1 - - 45 0 0.00 31 3 8.82 FHAD1 0 genome.wustl.edu 37 1 15639618 15639618 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 15639618 15639618 G C SNP FHAD1 ENST00000375999 human ensembl 74_37 +1 known missense c.1105 p.E369Q 0.829 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 17 0 0.00 13 3 18.75 FLJ37453 0 genome.wustl.edu 37 1 16162412 16162413 + RNA INS - - GC TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 16162412 16162413 - GC INS FLJ37453 ENST00000317122 human ensembl 74_37 -1 known rna NULL NULL 0.091:0.173 - - - no_errors RP11-169K16.9 Clone_based_vega_gene ENSG00000179743 tier1 8 0 0.00 3 8 72.73 FLNC 0 genome.wustl.edu 37 7 128470943 128470943 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 128470943 128470943 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.252 p.R84 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 36 0 0.00 9 9 50.00 FLNC 0 genome.wustl.edu 37 7 128490861 128490861 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 128490861 128490861 G C SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.5403 p.E1801D 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 18 0 0.00 14 5 26.32 FLNC 0 genome.wustl.edu 37 7 128498574 128498574 + Silent SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 128498574 128498574 T C SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.8175 p.P2725 0.976 smart_Filamin pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 44 0 0.00 23 2 8.00 FOXB2 0 genome.wustl.edu 37 9 79634684 79634684 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 79634684 79634684 C T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.114 p.D38 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 tier1 - - 45 0 0.00 21 7 25.00 FOXO3 0 genome.wustl.edu 37 6 108984758 108984758 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 108984758 108984758 G C SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.722 p.G241A 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 45 0 0.00 23 5 17.86 FOXP1 0 genome.wustl.edu 37 3 71179678 71179678 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 71179678 71179678 C T SNP FOXP1 ENST00000491238 human ensembl 74_37 -1 putative missense c.157 p.A53T 0.994 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 52 0 0.00 26 3 10.34 FRA10AC1 0 genome.wustl.edu 37 10 95451832 95451832 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 95451832 95451832 C G SNP FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known missense c.399 p.K133N 1.000 pfam_Folate-sensitive_fs_Fra10Ac1 pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 40 0 0.00 21 2 8.70 FRAS1 0 genome.wustl.edu 37 4 79340102 79340102 + Splice_Site SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 79340102 79340102 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known splice_site c.4426-1 e33-1 1.000 - - - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 55 0 0.00 27 4 12.90 FRY 0 genome.wustl.edu 37 13 32798406 32798406 + Silent SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 32798406 32798406 G C SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.4800 p.L1600 0.998 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 39 0 0.00 15 2 11.76 FRZB 0 genome.wustl.edu 37 2 183699658 183699658 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 183699658 183699658 C T SNP FRZB ENST00000295113 human ensembl 74_37 -1 known missense c.896 p.S299N 1.000 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 tier1 - - 35 0 0.00 8 3 27.27 FST 0 genome.wustl.edu 37 5 52779494 52779494 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 52779494 52779494 A G SNP FST ENST00000256759 human ensembl 74_37 +1 known silent c.438 p.L146 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FST HGNC ENSG00000134363 35 0 0.00 17 2 10.53 FSTL1 0 genome.wustl.edu 37 3 120123704 120123704 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 120123704 120123704 G C SNP FSTL1 ENST00000295633 human ensembl 74_37 -1 known missense c.577 p.L193V 1.000 pfscan_EF_hand_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom - no_errors FSTL1 HGNC ENSG00000163430 tier1 - - 68 0 0.00 33 8 19.51 FXR2 0 genome.wustl.edu 37 17 7496858 7496858 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 7496858 7496858 C G SNP FXR2 ENST00000250113 human ensembl 74_37 -1 known missense c.1193 p.G398A 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 42 0 0.00 19 2 9.52 GAD1 0 genome.wustl.edu 37 2 171705836 171705836 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 171705836 171705836 G A SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.1160 p.R387H 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 tier1 - - 40 0 0.00 20 6 22.22 GAPDHS 0 genome.wustl.edu 37 19 36027767 36027767 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 36027767 36027767 A G SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known silent c.120 p.P40 0.000 NULL pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 tier1 - - 63 0 0.00 44 6 12.00 GAS2L2 0 genome.wustl.edu 37 17 34072683 34072683 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 34072683 34072683 G A SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known silent c.1833 p.N611 0.958 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 tier1 - - 34 0 0.00 20 5 20.00 GATSL3 0 genome.wustl.edu 37 22 30681878 30681878 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 30681878 30681878 C T SNP GATSL3 ENST00000407689 human ensembl 74_37 -1 known silent c.864 p.L288 1.000 NULL NULL - no_errors GATSL3 HGNC ENSG00000239282 58 0 0.00 30 2 6.25 GBA 0 genome.wustl.edu 37 1 155208054 155208054 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 155208054 155208054 A T SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.632 p.V211D 0.083 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 tier1 - - 80 0 0.00 45 4 8.16 GC 0 genome.wustl.edu 37 4 72607566 72607566 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 72607566 72607566 C A SNP GC ENST00000513476 human ensembl 74_37 -1 putative missense c.1417 p.G473W 0.000 superfamily_Serum_albumin-like pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 46 0 0.00 17 2 10.53 GFM1 0 genome.wustl.edu 37 3 158409146 158409146 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 158409146 158409146 G C SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known missense c.2146 p.E716Q 1.000 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 tier1 - - 23 0 0.00 12 5 29.41 GFPT1 0 genome.wustl.edu 37 2 69565629 69565629 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 69565629 69565629 G C SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.1272 p.D424E 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 tier1 - - 51 0 0.00 37 6 13.95 GGA1 0 genome.wustl.edu 37 22 38014499 38014499 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 38014499 38014499 C T SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known silent c.249 p.D83 0.216 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 tier1 - - 22 0 0.00 25 4 13.79 GJE1 0 genome.wustl.edu 37 6 142456038 142456038 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 142456038 142456038 A G SNP GJE1 ENST00000450456 human ensembl 74_37 +1 known silent c.597 p.L199 1.000 NULL pfam_Connexin_CCC,pfam_Connexin_N - no_errors GJE1 HGNC ENSG00000203733 tier1 - - 57 0 0.00 25 8 24.24 GMEB2 0 genome.wustl.edu 37 20 62250681 62250681 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 62250681 62250681 C G SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known missense c.70 p.D24H 0.757 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 tier1 - - 33 0 0.00 17 7 29.17 GNAS 0 genome.wustl.edu 37 20 57428467 57428467 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 57428467 57428467 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.147 p.M49I 1.000 NULL 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 27 0 0.00 19 3 13.64 GNAT2 0 genome.wustl.edu 37 1 110152713 110152713 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 110152713 110152713 G A SNP GNAT2 ENST00000351050 human ensembl 74_37 -1 known silent c.252 p.I84 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC ENSG00000134183 tier1 - - 36 0 0.00 10 4 28.57 GPR98 0 genome.wustl.edu 37 5 89989976 89989976 + Nonsense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 89989976 89989976 C A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known nonsense c.7403 p.S2468* 0.711 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 66 0 0.00 17 7 29.17 GRB7 0 genome.wustl.edu 37 17 37898911 37898911 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 37898911 37898911 T A SNP GRB7 ENST00000445327 human ensembl 74_37 +1 known missense c.317 p.I106N 1.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 tier1 - - 32 0 0.00 24 6 20.00 GRB7 0 genome.wustl.edu 37 17 37898928 37898928 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 37898928 37898928 A C SNP GRB7 ENST00000445327 human ensembl 74_37 +1 known missense c.334 p.S112R 0.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 tier1 - - 30 0 0.00 24 5 17.24 GRID1 0 genome.wustl.edu 37 10 87482894 87482894 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 87482894 87482894 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.1863 p.G621 0.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 19 0 0.00 2 2 50.00 GRIK4 0 genome.wustl.edu 37 11 120837934 120837934 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 120837934 120837934 C A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.2297 p.A766D 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 49 0 0.00 36 11 23.40 GRIN2A 0 genome.wustl.edu 37 16 9858292 9858292 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 9858292 9858292 C T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.3109 p.A1037T 0.948 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 30 0 0.00 26 2 7.14 GRIP2 0 genome.wustl.edu 37 3 14559283 14559283 + RNA SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 14559283 14559283 G C SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 tier1 - - 91 0 0.00 43 17 28.33 GSDMC 0 genome.wustl.edu 37 8 130789698 130789698 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 130789698 130789698 G A SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.136 p.R46C 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 rs140640562 - 45 0 0.00 22 3 12.00 GTF2I 0 genome.wustl.edu 37 7 74120764 74120764 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 74120764 74120764 G T SNP GTF2I ENST00000324896 human ensembl 74_37 +1 known missense c.685 p.G229C 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 tier1 - - 82 0 0.00 64 4 5.88 HEATR5B 0 genome.wustl.edu 37 2 37306470 37306470 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 37306470 37306470 T G SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.131 p.D44A 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 43 0 0.00 22 4 15.38 HEBP2 0 genome.wustl.edu 37 6 138727227 138727227 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 138727227 138727227 C T SNP HEBP2 ENST00000607197 human ensembl 74_37 +1 known missense c.358 p.P120S 0.999 pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom - no_errors HEBP2 HGNC ENSG00000051620 62 0 0.00 30 2 6.25 HECTD1 0 genome.wustl.edu 37 14 31614117 31614117 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 31614117 31614117 C G SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.2527 p.D843H 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 46 0 0.00 26 2 7.14 HELLS 0 genome.wustl.edu 37 10 96352185 96352185 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 96352185 96352185 G A SNP HELLS ENST00000371332 human ensembl 74_37 +1 known missense c.2023 p.D675N 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 tier1 - - 37 0 0.00 11 5 31.25 HFE2 0 genome.wustl.edu 37 1 145416492 145416493 + Frame_Shift_Del DEL CT CT - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 145416492 145416493 CT - DEL HFE2 ENST00000336751 human ensembl 74_37 +1 known frame_shift_del c.837_838 p.Y280fs 0.996:1.000 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 tier1 53 0 0.00 29 6 17.14 HHLA3 0 genome.wustl.edu 37 1 70820576 70820576 + RNA SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 70820576 70820576 C T SNP HHLA3 ENST00000486110 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors HHLA3 HGNC ENSG00000197568 tier1 - - 46 0 0.00 11 5 31.25 HIVEP1 0 genome.wustl.edu 37 6 12125918 12125918 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 12125918 12125918 G C SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.5890 p.A1964P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 50 0 0.00 25 3 10.71 HLA-F-AS1 0 genome.wustl.edu 37 6 29706476 29706476 + RNA SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 29706476 29706476 C T SNP HLA-F-AS1 ENST00000399247 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors HLA-F-AS1 HGNC ENSG00000214922 15 0 0.00 16 2 11.11 HMCN1 0 genome.wustl.edu 37 1 186039872 186039872 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 186039872 186039872 T A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.8122 p.W2708R 1.000 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 tier1 - - 39 0 0.00 11 3 21.43 HMGN5 0 genome.wustl.edu 37 X 80370665 80370665 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 80370665 80370665 T C SNP HMGN5 ENST00000358130 human ensembl 74_37 -1 known missense c.332 p.K111R 0.025 NULL pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC ENSG00000198157 19 0 0.00 37 2 5.13 HNRNPK 0 genome.wustl.edu 37 9 86593149 86593149 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 86593149 86593149 C T SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known missense c.19 p.E7K 1.000 pfam_ROK_N pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 tier1 - - 114 0 0.00 32 10 23.81 HPS3 0 genome.wustl.edu 37 3 148857972 148857972 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 148857972 148857972 G A SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known silent c.399 p.S133 0.000 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 27 0 0.00 27 3 10.00 HSPG2 0 genome.wustl.edu 37 1 22222429 22222429 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 22222429 22222429 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.230 p.G77A 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 55 0 0.00 35 5 12.50 IDE 0 genome.wustl.edu 37 10 94223528 94223528 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 94223528 94223528 G A SNP IDE ENST00000265986 human ensembl 74_37 -1 known silent c.2721 p.Y907 0.993 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 55 0 0.00 20 2 9.09 IFIT5 0 genome.wustl.edu 37 10 91177056 91177056 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 91177056 91177056 G A SNP IFIT5 ENST00000371795 human ensembl 74_37 +1 known missense c.100 p.V34I 0.373 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT5 HGNC ENSG00000152778 37 0 0.00 15 2 11.76 IFT20 0 genome.wustl.edu 37 17 26656251 26656251 + Nonsense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 26656251 26656251 G C SNP IFT20 ENST00000357896 human ensembl 74_37 -1 known nonsense c.383 p.S128* 1.000 NULL NULL - no_errors IFT20 HGNC ENSG00000109083 tier1 - - 48 0 0.00 20 6 23.08 IGDCC4 0 genome.wustl.edu 37 15 65676433 65676433 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 65676433 65676433 G A SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.3667 p.P1223S 0.810 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 121 0 0.00 56 6 9.68 IL1RAP 0 genome.wustl.edu 37 3 190373709 190373709 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 190373709 190373709 G C SNP IL1RAP ENST00000443369 human ensembl 74_37 +1 known missense c.1377 p.Q459H 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 tier1 - - 66 0 0.00 21 5 19.23 IRAK2 0 genome.wustl.edu 37 3 10261453 10261453 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 10261453 10261453 C T SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known silent c.993 p.I331 0.977 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 tier1 - - 40 0 0.00 38 8 17.39 ITIH5 0 genome.wustl.edu 37 10 7601805 7601806 + Frame_Shift_Ins INS - - T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 7601805 7601806 0 T INS ITIH5 ENST00000397146 human ensembl 74_37 -1 known frame_shift_ins c.2039_2038 p.R680fs 0.020:0.020 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 29 0 0.00 3 3 50.00 KCNJ13 0 genome.wustl.edu 37 2 233633414 233633414 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 233633414 233633414 T A SNP KCNJ13 ENST00000233826 human ensembl 74_37 -1 known missense c.570 p.Q190H 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_KCNJ13,prints_K_chnl_inward-rec_Kir - no_errors KCNJ13 HGNC ENSG00000115474 tier1 - - 27 0 0.00 20 7 25.93 KCNK13 0 genome.wustl.edu 37 14 90651010 90651010 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 90651010 90651010 G T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.890 p.G297V 0.012 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 31 0 0.00 18 2 10.00 KDELR2 0 genome.wustl.edu 37 7 6522212 6522212 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 6522212 6522212 A C SNP KDELR2 ENST00000382267 human ensembl 74_37 -1 known missense c.100 p.C34G 0.144 NULL NULL - no_errors KDELR2 HGNC ENSG00000136240 tier1 - - 48 0 0.00 28 10 26.32 KDM4D 0 genome.wustl.edu 37 11 94730972 94730972 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 94730972 94730972 G C SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known missense c.436 p.D146H 0.932 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 37 0 0.00 26 2 7.14 KIAA0319 0 genome.wustl.edu 37 6 24564486 24564486 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 24564486 24564486 A T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.2375 p.V792D 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 26 0 0.00 26 3 10.34 KIAA0368 0 genome.wustl.edu 37 9 114132855 114132855 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 114132855 114132855 G C SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.5368 p.Q1790E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 tier1 - - 73 0 0.00 38 6 13.64 KIAA0586 0 genome.wustl.edu 37 14 58896142 58896142 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 58896142 58896142 G A SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known silent c.216 p.V72 0.041 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 50 0 0.00 29 3 9.38 KIAA1024L 0 genome.wustl.edu 37 5 129096098 129096098 + Silent SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 129096098 129096098 C A SNP KIAA1024L ENST00000564719 human ensembl 74_37 +1 known silent c.193 p.R65 0.000 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024L HGNC ENSG00000186367 24 0 0.00 17 3 15.00 KIAA1211L 0 genome.wustl.edu 37 2 99454593 99454593 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 99454593 99454593 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.228 p.E76 1.000 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 tier1 - - 38 0 0.00 31 5 13.89 KIAA1324L 0 genome.wustl.edu 37 7 86556147 86556147 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 86556147 86556147 T C SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.1175 p.K392R 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 70 0 0.00 51 9 15.00 KIAA1737 0 genome.wustl.edu 37 14 77572081 77572081 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 77572081 77572081 C T SNP KIAA1737 ENST00000361786 human ensembl 74_37 +1 known silent c.30 p.S10 1.000 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 tier1 - - 27 0 0.00 21 4 16.00 KIAA2026 0 genome.wustl.edu 37 9 5968554 5968554 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 5968554 5968554 G C SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.1677 p.I559M 0.986 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 31 0 0.00 9 2 18.18 KIAA2026 0 genome.wustl.edu 37 9 5968562 5968562 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 5968562 5968562 G A SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.1669 p.H557Y 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 29 0 0.00 8 2 20.00 KIF19 0 genome.wustl.edu 37 17 72339240 72339240 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 72339240 72339240 C A SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.397 p.R133S 0.723 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 45 0 0.00 25 2 7.41 KIF4B 0 genome.wustl.edu 37 5 154395889 154395889 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 154395889 154395889 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.2470 p.E824K 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 47 0 0.00 20 3 13.04 KIRREL3 0 genome.wustl.edu 37 11 126343242 126343242 + Nonsense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 126343242 126343242 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known nonsense c.553 p.R185* 0.930 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 tier1 - - 128 0 0.00 69 11 13.75 KLHL12 0 genome.wustl.edu 37 1 202887395 202887395 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 202887395 202887395 A G SNP KLHL12 ENST00000435533 human ensembl 74_37 -1 known silent c.585 p.F195 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL12 HGNC ENSG00000117153 tier1 - - 23 0 0.00 13 5 27.78 KLK11 0 genome.wustl.edu 37 19 51530735 51530735 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 51530735 51530735 C T SNP KLK11 ENST00000594768 human ensembl 74_37 -1 known silent c.39 p.S13 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK11 HGNC ENSG00000167757 tier1 rs201833226 - 84 0 0.00 48 23 32.39 KLRK1 0 genome.wustl.edu 37 12 10525766 10525766 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 10525766 10525766 T C SNP KLRK1 ENST00000240618 human ensembl 74_37 -1 known missense c.598 p.I200V 0.257 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 tier1 - - 34 0 0.00 10 5 33.33 KPNA3 0 genome.wustl.edu 37 13 50280504 50280504 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 50280504 50280504 G A SNP KPNA3 ENST00000261667 human ensembl 74_37 -1 known missense c.1037 p.A346V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 51 0 0.00 31 3 8.82 KPRP 0 genome.wustl.edu 37 1 152733635 152733635 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 152733635 152733635 A G SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.1571 p.D524G 0.978 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 26 0 0.00 26 8 23.53 KRT3 0 genome.wustl.edu 37 12 53188100 53188100 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 53188100 53188100 G C SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.661 p.Q221E 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 tier1 - - 39 0 0.00 18 12 40.00 KSR1 0 genome.wustl.edu 37 17 25909803 25909803 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 25909803 25909803 G A SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.652 p.A218T 0.688 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 tier1 - - 87 0 0.00 27 5 15.62 L3MBTL1 0 genome.wustl.edu 37 20 42163487 42163487 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 42163487 42163487 G T SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.1664 p.S555I 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 tier1 - - 38 0 0.00 24 5 17.24 LAMA2 0 genome.wustl.edu 37 6 129807652 129807652 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 129807652 129807652 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.7783 p.L2595 0.983 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 40 0 0.00 14 4 22.22 LAMTOR4 0 genome.wustl.edu 37 7 99746558 99746558 + RNA SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 99746558 99746558 C G SNP LAMTOR4 ENST00000460732 human ensembl 74_37 +1 known rna NULL NULL 0.060 - - - no_errors LAMTOR4 HGNC ENSG00000188186 tier1 - - 92 0 0.00 60 5 7.69 LARP4B 0 genome.wustl.edu 37 10 860788 860788 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 860788 860788 T A SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.1823 p.D608V 0.982 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 28 0 0.00 17 2 10.53 LATS2 0 genome.wustl.edu 37 13 21562178 21562178 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 21562178 21562178 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.1741 p.R581C 0.922 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 tier1 - - 110 0 0.00 42 18 30.00 LINGO4 0 genome.wustl.edu 37 1 151775030 151775030 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 151775030 151775030 G T SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known missense c.151 p.L51M 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 tier1 - - 36 0 0.00 19 4 16.67 LIPT2 0 genome.wustl.edu 37 11 74203330 74203330 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 74203330 74203330 G C SNP LIPT2 ENST00000310109 human ensembl 74_37 -1 known missense c.546 p.I182M 0.408 tigrfam_Octanoyltransferase pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase - no_errors LIPT2 HGNC ENSG00000175536 tier1 - - 59 0 0.00 46 5 9.80 LOC100131825 0 genome.wustl.edu 37 1 159166979 159166980 + RNA INS - - TA TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 159166979 159166980 - TA INS LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 15 0 0.00 5 2 28.57 LOC101928102 0 genome.wustl.edu 37 9 44870044 44870044 + Silent SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 44870044 44870044 T A SNP LOC101928102 ENST00000448436 human ensembl 74_37 +1 putative silent c.180 p.P60 0.026 NULL NULL - no_errors RP11-160N1.10 Clone_based_vega_gene ENSG00000204814 tier1 - - 331 0 0.00 206 22 9.65 LOC101929540 0 genome.wustl.edu 37 1 700532 700532 + RNA SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 700532 700532 T A SNP LOC101929540 ENST00000428504 human ensembl 74_37 -1 known rna NULL NULL 0.239 - - - no_errors RP11-206L10.2 Clone_based_vega_gene ENSG00000228327 8 0 0.00 6 3 33.33 LOC389332 0 genome.wustl.edu 37 5 135528018 135528018 + RNA SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 135528018 135528018 C G SNP LOC389332 ENST00000607574 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors AC009014.3 Clone_based_vega_gene ENSG00000271824 tier1 - - 64 0 0.00 27 16 37.21 LOXHD1 0 genome.wustl.edu 37 18 44221958 44221958 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 18 44221958 44221958 C T SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.287 p.R96Q 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 37 0 0.00 11 8 42.11 LPHN3 0 genome.wustl.edu 37 4 62599069 62599069 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 62599069 62599069 A G SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1196 p.D399G 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 28 0 0.00 18 2 10.00 LRP12 0 genome.wustl.edu 37 8 105502495 105502495 + RNA SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 105502495 105502495 G T SNP LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 43 0 0.00 26 5 16.13 LRP4 0 genome.wustl.edu 37 11 46884284 46884284 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 46884284 46884284 T G SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.5258 p.K1753T 1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 95 0 0.00 39 3 7.14 LRRC3 0 genome.wustl.edu 37 21 45877116 45877116 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 21 45877116 45877116 A G SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known missense c.589 p.S197G 0.985 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 tier1 - - 29 0 0.00 13 3 18.75 LRRC32 0 genome.wustl.edu 37 11 76372422 76372422 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 76372422 76372422 T C SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.215 p.Y72C 0.988 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 65 0 0.00 49 4 7.55 LRRC37A3 0 genome.wustl.edu 37 17 62855703 62855703 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 62855703 62855703 T A SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.4561 p.T1521S 0.994 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 158 0 0.00 87 7 7.45 LRRC41 0 genome.wustl.edu 37 1 46746102 46746102 + Silent SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 46746102 46746102 G C SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known silent c.1887 p.P629 0.995 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 tier1 - - 32 0 0.00 20 7 25.93 LRRC43 0 genome.wustl.edu 37 12 122685870 122685870 + Frame_Shift_Del DEL A A - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 122685870 122685870 A - DEL LRRC43 ENST00000339777 human ensembl 74_37 +1 known frame_shift_del c.1837 p.E615fs 0.722 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 tier1 33 0 0.00 18 3 14.29 LRRC66 0 genome.wustl.edu 37 4 52861992 52861992 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 52861992 52861992 G T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1196 p.P399H 0.991 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 tier1 - - 40 0 0.00 22 3 12.00 LRRK1 0 genome.wustl.edu 37 15 101561287 101561287 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 101561287 101561287 A T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.1639 p.S547C 0.829 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 31 0 0.00 23 4 14.81 MALAT1 0 genome.wustl.edu 37 11 65266920 65266920 + RNA SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 65266920 65266920 T A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 96 0 0.00 39 17 30.36 MALAT1 0 genome.wustl.edu 37 11 65270548 65270548 + RNA SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 65270548 65270548 G C SNP MALAT1 ENST00000508832 human ensembl 74_37 +1 known rna NULL NULL 0.862 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 60 0 0.00 25 6 19.35 MALAT1 0 genome.wustl.edu 37 11 65271577 65271577 + RNA SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 65271577 65271577 G T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.160 - - - no_errors MALAT1 HGNC ENSG00000251562 41 0 0.00 27 3 10.00 MAMDC4 0 genome.wustl.edu 37 9 139751128 139751128 + RNA SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 139751128 139751128 G T SNP MAMDC4 ENST00000485732 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MAMDC4 HGNC ENSG00000177943 tier1 - - 54 0 0.00 37 4 9.76 MAMLD1 0 genome.wustl.edu 37 X 149639632 149639632 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 149639632 149639632 T C SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.1712 p.L571P 0.980 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 22 0 0.00 29 4 12.12 MAN2B1 0 genome.wustl.edu 37 19 12760814 12760814 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 12760814 12760814 T A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.2180 p.K727M 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 50 0 0.00 27 4 12.90 MAP3K10 0 genome.wustl.edu 37 19 40698370 40698370 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 40698370 40698370 G T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.432 p.Q144H 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 tier1 - - 98 0 0.00 68 4 5.56 MAPRE3 0 genome.wustl.edu 37 2 27246243 27246243 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 27246243 27246243 T G SNP MAPRE3 ENST00000233121 human ensembl 74_37 +1 known missense c.165 p.C55W 0.189 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 28 0 0.00 16 2 11.11 MARCH2 0 genome.wustl.edu 37 19 8503352 8503352 + Silent SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 8503352 8503352 G T SNP MARCH2 ENST00000215555 human ensembl 74_37 +1 known silent c.663 p.A221 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH2 HGNC ENSG00000099785 tier1 - - 62 0 0.00 25 4 13.79 MAST1 0 genome.wustl.edu 37 19 12981985 12981985 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 12981985 12981985 A G SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.3262 p.S1088G 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 66 0 0.00 31 3 8.82 MAT2A 0 genome.wustl.edu 37 2 85770071 85770071 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 85770071 85770071 C T SNP MAT2A ENST00000306434 human ensembl 74_37 +1 known silent c.999 p.F333 1.000 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC ENSG00000168906 tier1 - - 33 0 0.00 13 6 31.58 MATN1 0 genome.wustl.edu 37 1 31188993 31188993 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 31188993 31188993 G A SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.970 p.R324C 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 30 0 0.00 16 3 15.79 MBD6 0 genome.wustl.edu 37 12 57921732 57921732 + Frame_Shift_Del DEL G G - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 57921732 57921732 G - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2338 p.G782fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 60 0 0.00 23 3 11.54 MCF2 0 genome.wustl.edu 37 X 138678710 138678710 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 138678710 138678710 T C SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.2710 p.K904E 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 - - 45 0 0.00 19 13 40.62 MCF2L 0 genome.wustl.edu 37 13 113701016 113701016 + RNA SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 113701016 113701016 C G SNP MCF2L ENST00000480321 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MCF2L HGNC ENSG00000126217 tier1 - - 21 0 0.00 17 3 15.00 MDH1 0 genome.wustl.edu 37 2 63832427 63832427 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 63832427 63832427 G A SNP MDH1 ENST00000539945 human ensembl 74_37 +1 known missense c.743 p.R248H 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC ENSG00000014641 12 0 0.00 5 2 28.57 MED12L 0 genome.wustl.edu 37 3 150873950 150873950 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 150873950 150873950 T C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.559 p.W187R 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 33 0 0.00 10 3 23.08 MED15 0 genome.wustl.edu 37 22 20909317 20909317 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 20909317 20909317 C T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known silent c.333 p.G111 0.860 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 rs145581029 - 82 0 0.00 27 26 48.15 MEOX1 0 genome.wustl.edu 37 17 41738715 41738715 + Nonsense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 41738715 41738715 G C SNP MEOX1 ENST00000318579 human ensembl 74_37 -1 known nonsense c.188 p.S63* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX1 HGNC ENSG00000005102 tier1 - - 77 0 0.00 55 7 11.29 MET 0 genome.wustl.edu 37 7 116435832 116435832 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 116435832 116435832 T A SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.3976 p.C1326S 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 52 0 0.00 31 9 22.50 METTL21EP 0 genome.wustl.edu 37 13 103544807 103544807 + RNA SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 103544807 103544807 C T SNP METTL21EP ENST00000605100 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors METTL21EP HGNC ENSG00000250878 16 0 0.00 8 3 27.27 MFSD11 0 genome.wustl.edu 37 17 74750243 74750243 + RNA SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 74750243 74750243 G A SNP MFSD11 ENST00000585958 human ensembl 74_37 +1 known rna NULL NULL 0.123 - - - no_errors MFSD11 HGNC ENSG00000092931 tier1 - - 78 0 0.00 56 4 6.67 MGA 0 genome.wustl.edu 37 15 42003273 42003273 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 42003273 42003273 A T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.2810 p.K937M 0.966 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 52 0 0.00 26 9 25.71 MICAL2 0 genome.wustl.edu 37 11 12278449 12278449 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 12278449 12278449 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.3073 p.E1025K 0.999 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 31 0 0.00 9 2 18.18 MICALCL 0 genome.wustl.edu 37 11 12315652 12315652 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 12315652 12315652 A T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.674 p.K225I 0.014 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 tier1 - - 32 0 0.00 12 7 36.84 MLLT3 0 genome.wustl.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 20414280 20414280 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.564 p.S188 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 36 0 0.00 12 2 14.29 MLXIP 0 genome.wustl.edu 37 12 122623385 122623385 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 122623385 122623385 C T SNP MLXIP ENST00000319080 human ensembl 74_37 +1 known missense c.2408 p.A803V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 tier1 - - 30 0 0.00 18 3 14.29 MPPE1 0 genome.wustl.edu 37 18 11885058 11885058 + RNA SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 18 11885058 11885058 T C SNP MPPE1 ENST00000592755 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MPPE1 HGNC ENSG00000154889 tier1 - - 55 0 0.00 47 15 24.19 MROH8 0 genome.wustl.edu 37 20 35788510 35788510 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 35788510 35788510 C T SNP MROH8 ENST00000400441 human ensembl 74_37 -1 known missense c.718 p.A240T 0.001 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 tier1 - - 52 0 0.00 27 4 12.90 MRPL15 0 genome.wustl.edu 37 8 55049207 55049207 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 55049207 55049207 G A SNP MRPL15 ENST00000260102 human ensembl 74_37 +1 known missense c.245 p.G82E 1.000 pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 tier1 - - 61 0 0.00 21 14 40.00 MS4A15 0 genome.wustl.edu 37 11 60538930 60538930 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 60538930 60538930 G C SNP MS4A15 ENST00000429322 human ensembl 74_37 +1 known missense c.391 p.G131R 0.002 NULL NULL - no_errors MS4A15 HGNC ENSG00000166961 tier1 - - 40 0 0.00 16 4 20.00 MSRB3 0 genome.wustl.edu 37 12 65702437 65702437 + Splice_Site SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 65702437 65702437 T C SNP MSRB3 ENST00000308259 human ensembl 74_37 +1 known splice_site c.76+2 e1+2 1.000 - - - no_errors MSRB3 HGNC ENSG00000174099 30 0 0.00 22 2 8.33 MT-RNR2 0 genome.wustl.edu 37 MT 3156 3156 + RNA SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f MT 3156 3156 A T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 58 0 0.00 14 2 11.76 MT-TG 0 genome.wustl.edu 37 MT 10046 10046 + RNA SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f MT 10046 10046 T C SNP MT-TG ENST00000387429 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TG HGNC ENSG00000210164 tier1 - - 22 0 0.00 5 2 28.57 MTHFD2L 0 genome.wustl.edu 37 4 75041020 75041020 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 75041020 75041020 A G SNP MTHFD2L ENST00000395759 human ensembl 74_37 +1 known silent c.351 p.L117 0.998 pfam_THF_DH/CycHdrlase_cat_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 tier1 - - 63 0 0.00 24 5 17.24 MTSS1L 0 genome.wustl.edu 37 16 70714902 70714902 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 70714902 70714902 G C SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known missense c.96 p.F32L 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 tier1 - - 96 0 0.00 31 6 16.22 MUC17 0 genome.wustl.edu 37 7 100683000 100683000 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 100683000 100683000 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8303 p.A2768V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 75 0 0.00 35 20 36.36 MUC4 0 genome.wustl.edu 37 3 195508300 195508300 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 195508300 195508300 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10151 p.S3384L 0.002 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 tier1 rs201335957 - 105 0 0.00 44 27 38.03 MUC4 0 genome.wustl.edu 37 3 195516523 195516523 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 195516523 195516523 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.1928 p.P643Q 0.000 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 44 0 0.00 35 2 5.41 MUC5B 0 genome.wustl.edu 37 11 1272862 1272862 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 1272862 1272862 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.14761 p.V4921M 0.000 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 44 0 0.00 12 2 14.29 MUSK 0 genome.wustl.edu 37 9 113563101 113563101 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 113563101 113563101 G A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.2443 p.V815M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 31 0 0.00 13 2 12.50 MYBL2 0 genome.wustl.edu 37 20 42311443 42311443 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 42311443 42311443 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.196 p.D66N 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 tier1 - - 61 0 0.00 44 12 21.43 MYH1 0 genome.wustl.edu 37 17 10405218 10405218 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 10405218 10405218 G T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3122 p.S1041Y 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 45 0 0.00 10 10 50.00 MYO3B 0 genome.wustl.edu 37 2 171262126 171262126 + Nonsense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 171262126 171262126 C T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known nonsense c.2530 p.Q844* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 - - 60 0 0.00 30 3 9.09 MYO5C 0 genome.wustl.edu 37 15 52553245 52553245 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 52553245 52553245 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.1127 p.R376H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 43 0 0.00 24 2 7.69 MYO9A 0 genome.wustl.edu 37 15 72193556 72193556 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 72193556 72193556 C T SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known silent c.3126 p.L1042 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 tier1 - - 36 0 0.00 17 3 15.00 NAGLU 0 genome.wustl.edu 37 17 40695907 40695907 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 40695907 40695907 C T SNP NAGLU ENST00000225927 human ensembl 74_37 +1 known missense c.1883 p.A628V 0.000 pfam_NAGLU_tim-barrel pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 tier1 - - 42 0 0.00 33 5 13.16 NANS 0 genome.wustl.edu 37 9 100840540 100840540 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 100840540 100840540 G A SNP NANS ENST00000210444 human ensembl 74_37 +1 known missense c.514 p.V172M 1.000 pfam_Neu5Ac_N pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 tier1 - - 49 0 0.00 20 16 44.44 NAV1 0 genome.wustl.edu 37 1 201780815 201780815 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 201780815 201780815 G T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.4882 p.D1628Y 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 - - 42 0 0.00 14 6 30.00 NCAM1 0 genome.wustl.edu 37 11 113102449 113102449 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 113102449 113102449 G C SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known missense c.1142 p.G381A 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 37 0 0.00 24 3 11.11 NCOA3 0 genome.wustl.edu 37 20 46281290 46281290 + Nonsense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 46281290 46281290 A T SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known nonsense c.4087 p.K1363* 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 tier1 - - 43 0 0.00 25 12 32.43 NCR2 0 genome.wustl.edu 37 6 41309806 41309806 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 41309806 41309806 C T SNP NCR2 ENST00000373089 human ensembl 74_37 +1 known missense c.563 p.A188V 0.019 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NCR2 HGNC ENSG00000096264 36 0 0.00 13 3 18.75 NDUFC2 0 genome.wustl.edu 37 11 77784146 77784147 + Frame_Shift_Ins INS - - A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 77784146 77784147 - A INS NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_ins c.208_207 p.A69fs 0.050:0.809 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 tier1 39 0 0.00 24 3 11.11 NEK11 0 genome.wustl.edu 37 3 130893611 130893611 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 130893611 130893611 C T SNP NEK11 ENST00000511262 human ensembl 74_37 +1 known missense c.1400 p.A467V 0.002 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 tier1 - - 22 0 0.00 14 7 33.33 NID1 0 genome.wustl.edu 37 1 236195817 236195817 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 236195817 236195817 C A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1421 p.S474I 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 30 0 0.00 11 2 15.38 NLRC4 0 genome.wustl.edu 37 2 32477679 32477679 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 32477679 32477679 G T SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.71 p.T24K 0.001 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 tier1 - - 56 0 0.00 8 9 52.94 NLRP14 0 genome.wustl.edu 37 11 7067930 7067930 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 7067930 7067930 G T SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.1990 p.D664Y 0.953 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 63 0 0.00 17 2 10.53 NOP16 0 genome.wustl.edu 37 5 175813854 175813854 + Silent SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 175813854 175813854 G T SNP NOP16 ENST00000389158 human ensembl 74_37 -1 known silent c.273 p.P91 0.997 pfam_Ribosome_biogenesis_Nop16 pfam_Ribosome_biogenesis_Nop16 - no_errors NOP16 HGNC ENSG00000048162 tier1 - - 46 0 0.00 32 4 11.11 NOP56 0 genome.wustl.edu 37 20 2638861 2638861 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 2638861 2638861 G T SNP NOP56 ENST00000329276 human ensembl 74_37 +1 known missense c.1706 p.S569I 0.977 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 48 0 0.00 16 3 15.79 NR5A2 0 genome.wustl.edu 37 1 200017357 200017357 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 200017357 200017357 G C SNP NR5A2 ENST00000367362 human ensembl 74_37 +1 known missense c.521 p.R174T 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 38 0 0.00 24 2 7.69 NRXN2 0 genome.wustl.edu 37 11 64402742 64402742 + Splice_Site SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 64402742 64402742 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known splice_site c.3585+1 e17+1 1.000 - - - no_errors NRXN2 HGNC ENSG00000110076 tier1 - - 40 0 0.00 22 4 15.38 NTHL1 0 genome.wustl.edu 37 16 2094744 2094744 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 2094744 2094744 C A SNP NTHL1 ENST00000219066 human ensembl 74_37 -1 known missense c.436 p.V146L 1.000 pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 tier1 - - 105 0 0.00 88 10 10.20 NTSR1 0 genome.wustl.edu 37 20 61341150 61341150 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 61341150 61341150 C T SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known silent c.591 p.A197 0.855 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 tier1 - - 42 0 0.00 38 7 15.56 NUP160 0 genome.wustl.edu 37 11 47861421 47861421 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 47861421 47861421 A T SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.722 p.L241H 1.000 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 tier1 - - 33 0 0.00 36 4 10.00 NYAP2 0 genome.wustl.edu 37 2 226447094 226447094 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 226447094 226447094 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.961 p.D321N 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 13 0 0.00 10 4 28.57 OIT3 0 genome.wustl.edu 37 10 74684281 74684281 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 74684281 74684281 C T SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known missense c.1246 p.L416F 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 35 0 0.00 26 2 7.14 OMP 0 genome.wustl.edu 37 11 76814112 76814112 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 76814112 76814112 G A SNP OMP ENST00000529803 human ensembl 74_37 +1 known missense c.227 p.G76D 1.000 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 tier1 - - 44 0 0.00 26 12 31.58 OR1B1 0 genome.wustl.edu 37 9 125391809 125391809 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 125391809 125391809 C T SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.6 p.M2I 0.752 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 14 0 0.00 15 3 16.67 OR1N1 0 genome.wustl.edu 37 9 125289266 125289266 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 125289266 125289266 G C SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known missense c.307 p.L103V 0.000 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 OR1N1 HGNC ENSG00000171505 35 0 0.00 23 2 8.00 OR4A47 0 genome.wustl.edu 37 11 48511187 48511187 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 48511187 48511187 C T SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known silent c.843 p.N281 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 tier1 - - 63 0 0.00 22 7 24.14 OR51G1 0 genome.wustl.edu 37 11 4945468 4945468 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 4945468 4945468 G A SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known silent c.102 p.C34 0.550 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 tier1 - - 49 0 0.00 9 9 50.00 OR52J3 0 genome.wustl.edu 37 11 5068158 5068158 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 5068158 5068158 G A SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known missense c.403 p.A135T 0.095 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52J3 HGNC ENSG00000205495 tier1 - - 30 0 0.00 15 3 16.67 OR5I1 0 genome.wustl.edu 37 11 55703203 55703203 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 55703203 55703203 A G SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.674 p.L225P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 30 0 0.00 14 3 17.65 OR6B1 0 genome.wustl.edu 37 7 143701170 143701170 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 143701170 143701170 G T SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known missense c.81 p.M27I 0.002 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 tier1 - - 73 0 0.00 42 4 8.70 OSBPL1A 0 genome.wustl.edu 37 18 21746571 21746571 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 18 21746571 21746571 G T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.2631 p.D877E 0.998 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 tier1 - - 45 0 0.00 34 5 12.82 OSGIN1 0 genome.wustl.edu 37 16 83999150 83999150 + Silent SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 83999150 83999150 G T SNP OSGIN1 ENST00000361711 human ensembl 74_37 +1 known silent c.972 p.L324 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC ENSG00000140961 21 0 0.00 15 2 11.76 OXA1L 0 genome.wustl.edu 37 14 23240489 23240489 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 23240489 23240489 C T SNP OXA1L ENST00000285848 human ensembl 74_37 +1 known missense c.1295 p.A432V 1.000 NULL pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C - no_errors OXA1L HGNC ENSG00000155463 tier1 - - 50 0 0.00 34 4 10.53 PABPC5 0 genome.wustl.edu 37 X 90691007 90691007 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 90691007 90691007 C G SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.431 p.S144C 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 tier1 - - 31 0 0.00 8 12 60.00 PAFAH1B1 0 genome.wustl.edu 37 17 2579890 2579890 + Frame_Shift_Del DEL T T - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 2579890 2579890 T - DEL PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known frame_shift_del c.992 p.M332fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 tier1 39 0 0.00 11 2 15.38 PAK6 0 genome.wustl.edu 37 15 40558592 40558592 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 40558592 40558592 C T SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.754 p.R252W 0.944 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 tier1 - - 58 0 0.00 21 5 19.23 PAK7 0 genome.wustl.edu 37 20 9561234 9561234 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 9561234 9561234 G T SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.548 p.S183Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 57 0 0.00 24 2 7.69 PAPSS2 0 genome.wustl.edu 37 10 89474760 89474760 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 89474760 89474760 A C SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known missense c.658 p.I220L 0.000 superfamily_PUA-like_domain pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 51 0 0.00 41 3 6.82 PAX6 0 genome.wustl.edu 37 11 31815069 31815069 + Nonsense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 31815069 31815069 G A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known nonsense c.991 p.R331* 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 22 0 0.00 21 2 8.70 PCDH20 0 genome.wustl.edu 37 13 61987310 61987310 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 61987310 61987310 T A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.922 p.I308F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 15 0 0.00 9 3 25.00 PCDH20 0 genome.wustl.edu 37 13 61987586 61987586 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 61987586 61987586 C T SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.646 p.V216M 0.108 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 18 0 0.00 15 2 11.76 PCDH9 0 genome.wustl.edu 37 13 67801399 67801399 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 67801399 67801399 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.1174 p.D392N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 33 0 0.00 13 2 13.33 PCDHA12 0 genome.wustl.edu 37 5 140255825 140255825 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 140255825 140255825 A C SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.768 p.Q256H 0.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 40 0 0.00 17 4 19.05 PCDHB2 0 genome.wustl.edu 37 5 140475221 140475221 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 140475221 140475221 T C SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.847 p.F283L 0.713 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 PCDHB2 HGNC ENSG00000112852 28 0 0.00 10 2 16.67 PCDHB3 0 genome.wustl.edu 37 5 140482266 140482266 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 140482266 140482266 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.2033 p.P678L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 136 0 0.00 64 9 12.33 PCDHB8 0 genome.wustl.edu 37 5 140559207 140559207 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 140559207 140559207 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1592 p.R531Q 0.014 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 tier1 - - 450 0 0.00 196 50 20.33 PCDHGB7 0 genome.wustl.edu 37 5 140798870 140798870 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 140798870 140798870 G T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.1444 p.G482W 0.034 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 PCDHGB7 HGNC ENSG00000254122 34 0 0.00 21 2 8.70 PCNX 0 genome.wustl.edu 37 14 71522254 71522254 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 71522254 71522254 G T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.4611 p.L1537F 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 36 0 0.00 43 4 8.51 PDGFRB 0 genome.wustl.edu 37 5 149499606 149499606 + Frame_Shift_Del DEL G G - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 149499606 149499606 G - DEL PDGFRB ENST00000261799 human ensembl 74_37 -1 known frame_shift_del c.2667 p.F889fs 0.947 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 tier1 31 0 0.00 7 2 22.22 PDSS2 0 genome.wustl.edu 37 6 107595332 107595332 + Silent SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 107595332 107595332 T C SNP PDSS2 ENST00000369037 human ensembl 74_37 -1 known silent c.531 p.P177 0.988 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 54 0 0.00 25 3 10.71 PEG3 0 genome.wustl.edu 37 19 57327528 57327528 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 57327528 57327528 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2282 p.K761T 0.000 NULL pfam_Znf_C2H2,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 PEG3 HGNC ENSG00000198300 tier1 - - 45 0 0.00 19 10 34.48 PHF17 0 genome.wustl.edu 37 4 129783293 129783293 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 129783293 129783293 T G SNP PHF17 ENST00000226319 human ensembl 74_37 +1 known missense c.1416 p.D472E 0.981 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 tier1 - - 37 0 0.00 15 3 16.67 PHYHIPL 0 genome.wustl.edu 37 10 60994184 60994184 + Nonsense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 60994184 60994184 C G SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known nonsense c.227 p.S76* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 tier1 - - 36 0 0.00 27 8 22.86 PIEZO1 0 genome.wustl.edu 37 16 88787614 88787614 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 88787614 88787614 C T SNP PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel silent c.5628 p.R1876 0.190 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 34 0 0.00 27 2 6.90 PIGQ 0 genome.wustl.edu 37 16 631226 631226 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 631226 631226 C T SNP PIGQ ENST00000443147 human ensembl 74_37 +1 known missense c.1601 p.T534I 0.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 tier1 - - 43 0 0.00 17 6 26.09 PIK3C2A 0 genome.wustl.edu 37 11 17144279 17144279 + Frame_Shift_Del DEL T T - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 17144279 17144279 T - DEL PIK3C2A ENST00000265970 human ensembl 74_37 -1 known frame_shift_del c.2481 p.G828fs 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 tier1 54 0 0.00 30 3 9.09 PIK3R4 0 genome.wustl.edu 37 3 130409453 130409453 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 130409453 130409453 G A SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known silent c.3144 p.L1048 0.962 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 tier1 - - 25 0 0.00 11 12 52.17 PIP 0 genome.wustl.edu 37 7 142836654 142836654 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 142836654 142836654 A T SNP PIP ENST00000291009 human ensembl 74_37 +1 known missense c.360 p.L120F 0.000 pfam_SV_autoAg,pirsf_SV_autoAg pfam_SV_autoAg,pirsf_SV_autoAg - no_errors PIP HGNC ENSG00000159763 tier1 - - 45 0 0.00 16 3 15.79 PIWIL1 0 genome.wustl.edu 37 12 130833904 130833904 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 130833904 130833904 C T SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known silent c.855 p.N285 0.218 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 tier1 - - 66 0 0.00 27 7 20.59 PIWIL3 0 genome.wustl.edu 37 22 25151828 25151828 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 25151828 25151828 C G SNP PIWIL3 ENST00000332271 human ensembl 74_37 -1 known missense c.615 p.K205N 0.787 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 tier1 - - 43 0 0.00 32 8 20.00 PKD1L3 0 genome.wustl.edu 37 16 72020240 72020240 + RNA SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 72020240 72020240 G A SNP PKD1L3 ENST00000335106 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PKD1L3 HGNC ENSG00000187008 46 0 0.00 18 3 14.29 PKD2 0 genome.wustl.edu 37 4 88967995 88967995 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 88967995 88967995 G T SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known missense c.1521 p.W507C 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 88 0 0.00 32 2 5.88 PKHD1 0 genome.wustl.edu 37 6 51503655 51503655 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 51503655 51503655 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.11498 p.S3833F 0.853 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 52 0 0.00 25 3 10.71 PLA2G4F 0 genome.wustl.edu 37 15 42434796 42434796 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 42434796 42434796 C A SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.2265 p.E755D 0.008 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 tier1 - - 74 0 0.00 23 3 11.54 PLA2R1 0 genome.wustl.edu 37 2 160798256 160798256 + Splice_Site DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 160798256 160798256 C - DEL PLA2R1 ENST00000460710 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 0.000 - - - no_errors PLA2R1 HGNC ENSG00000153246 tier1 26 0 0.00 11 3 21.43 PLCG2 0 genome.wustl.edu 37 16 81819602 81819602 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 81819602 81819602 C G SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.8 p.T3S 0.700 pirsf_PLC-gamma,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 tier1 - - 38 0 0.00 17 4 19.05 PLSCR4 0 genome.wustl.edu 37 3 145924348 145924348 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 145924348 145924348 C T SNP PLSCR4 ENST00000354952 human ensembl 74_37 -1 known missense c.319 p.A107T 0.025 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC ENSG00000114698 tier1 - - 42 0 0.00 15 11 42.31 PLXDC1 0 genome.wustl.edu 37 17 37234173 37234173 + Frame_Shift_Del DEL G G - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 37234173 37234173 G - DEL PLXDC1 ENST00000315392 human ensembl 74_37 -1 known frame_shift_del c.1179 p.T394fs 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 tier1 25 0 0.00 10 9 47.37 PLXNB3 0 genome.wustl.edu 37 X 153037063 153037063 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 153037063 153037063 C A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.2539 p.P847T 0.940 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 tier1 - - 9 0 0.00 7 5 41.67 PMS2 0 genome.wustl.edu 37 7 6035236 6035236 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 6035236 6035236 G C SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.832 p.H278D 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 tier1 - - 34 0 0.00 10 7 41.18 POLE 0 genome.wustl.edu 37 12 133233814 133233814 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 133233814 133233814 G C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.3490 p.P1164A 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 49 0 0.00 18 6 25.00 POLE2 0 genome.wustl.edu 37 14 50133089 50133089 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 50133089 50133089 C T SNP POLE2 ENST00000216367 human ensembl 74_37 -1 known missense c.535 p.G179R 0.875 pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC ENSG00000100479 tier1 - - 34 0 0.00 33 4 10.81 POLR1B 0 genome.wustl.edu 37 2 113332935 113332935 + Silent SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 113332935 113332935 A C SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known silent c.3151 p.R1051 0.962 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 tier1 - - 40 0 0.00 34 6 15.00 PPM1H 0 genome.wustl.edu 37 12 63328397 63328397 + Frame_Shift_Del DEL G G - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 63328397 63328397 G 0 DEL PPM1H ENST00000228705 human ensembl 74_37 -1 known frame_shift_del c.120 p.Y41fs 0.999 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 16 0 0.00 4 4 50.00 PPP1R26 0 genome.wustl.edu 37 9 138378543 138378543 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 138378543 138378543 G A SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.2187 p.T729 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 13 0 0.00 5 3 37.50 PPP6R2 0 genome.wustl.edu 37 22 50845231 50845231 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 50845231 50845231 C T SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.341 p.P114L 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 32 0 0.00 11 3 21.43 PPWD1 0 genome.wustl.edu 37 5 64875276 64875276 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 64875276 64875276 G C SNP PPWD1 ENST00000261308 human ensembl 74_37 +1 known missense c.1186 p.E396Q 1.000 superfamily_WD40_repeat_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 54 0 0.00 27 3 10.00 PRB3 0 genome.wustl.edu 37 12 11420839 11420839 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 11420839 11420839 G C SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.344 p.P115R 0.001 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 88 0 0.00 40 13 24.53 PRKCH 0 genome.wustl.edu 37 14 61915966 61915966 + Nonsense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 61915966 61915966 C G SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known nonsense c.698 p.S233* 0.830 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 35 0 0.00 22 2 8.33 PRKCQ 0 genome.wustl.edu 37 10 6472851 6472851 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 6472851 6472851 C T SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1886 p.R629H 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 47 0 0.00 32 2 5.71 PRKCQ 0 genome.wustl.edu 37 10 6527138 6527138 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 6527138 6527138 A C SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.994 p.C332G 0.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 67 0 0.00 28 3 9.68 PRKD2 0 genome.wustl.edu 37 19 47200420 47200420 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 47200420 47200420 G A SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known silent c.1311 p.Y437 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 15 0 0.00 6 3 33.33 PRPF38A 0 genome.wustl.edu 37 1 52874343 52874343 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 52874343 52874343 G C SNP PRPF38A ENST00000257181 human ensembl 74_37 +1 known missense c.393 p.K131N 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 tier1 - - 43 0 0.00 30 4 11.76 PRPF39 0 genome.wustl.edu 37 14 45581661 45581661 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 45581661 45581661 G T SNP PRPF39 ENST00000355765 human ensembl 74_37 +1 known missense c.1713 p.Q571H 1.000 NULL smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 tier1 - - 64 0 0.00 59 4 6.35 PRPF8 0 genome.wustl.edu 37 17 1564934 1564934 + Silent SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 1564934 1564934 G C SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known silent c.4173 p.L1391 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 20 0 0.00 8 3 27.27 PRRT2 0 genome.wustl.edu 37 16 29825222 29825222 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 29825222 29825222 G A SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.847 p.V283I 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 tier1 - - 38 0 0.00 11 4 25.00 PRSS36 0 genome.wustl.edu 37 16 31151676 31151676 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 31151676 31151676 C T SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.2228 p.G743D 0.981 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 tier1 - - 43 0 0.00 17 11 39.29 PRUNE2 0 genome.wustl.edu 37 9 79322773 79322773 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 79322773 79322773 C G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.3340 p.E1114Q 0.002 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 21 0 0.00 14 3 17.65 PSD2 0 genome.wustl.edu 37 5 139219750 139219750 + Frame_Shift_Del DEL T T - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 139219750 139219750 T - DEL PSD2 ENST00000274710 human ensembl 74_37 +1 known frame_shift_del c.2107 p.F703fs 0.961 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 tier1 33 0 0.00 7 2 22.22 PSEN1 0 genome.wustl.edu 37 14 73673101 73673101 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 73673101 73673101 G C SNP PSEN1 ENST00000324501 human ensembl 74_37 +1 known missense c.876 p.M292I 1.000 pfam_Peptidase_A22A,smart_Preselin/SPP pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 tier1 - - 50 0 0.00 27 7 20.59 PSG5 0 genome.wustl.edu 37 19 43683274 43683274 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 43683274 43683274 A G SNP PSG5 ENST00000599812 human ensembl 74_37 -1 novel silent c.466 p.L156 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 tier1 - - 118 0 0.00 56 33 37.08 PSTPIP1 0 genome.wustl.edu 37 15 77323585 77323585 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 77323585 77323585 A G SNP PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known missense c.902 p.N301S 1.000 NULL pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 - - 28 0 0.00 8 3 27.27 PTCHD2 0 genome.wustl.edu 37 1 11577655 11577655 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 11577655 11577655 A G SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.1885 p.T629A 0.234 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 29 0 0.00 20 2 9.09 PTPRZ1 0 genome.wustl.edu 37 7 121650873 121650873 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 121650873 121650873 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.1773 p.P591 0.001 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 30 0 0.00 16 4 20.00 PVRL2 0 genome.wustl.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 45381749 45381751 GAG - DEL PVRL2 ENST00000252485 human ensembl 74_37 +1 known in_frame_del c.1312_1314 p.E441in_frame_del 0.686:0.659:0.301 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 tier1 18 0 0.00 11 2 15.38 PWP1 0 genome.wustl.edu 37 12 108102887 108102887 + Splice_Site SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 108102887 108102887 G T SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known splice_site c.1169-1 e13-1 1.000 - - - no_errors PWP1 HGNC ENSG00000136045 tier1 - - 31 0 0.00 24 3 11.11 RALYL 0 genome.wustl.edu 37 8 85441593 85441593 + Nonsense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 85441593 85441593 A T SNP RALYL ENST00000521268 human ensembl 74_37 +1 known nonsense c.37 p.K13* 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 tier1 - - 70 0 0.00 47 5 9.62 RANBP17 0 genome.wustl.edu 37 5 170640676 170640676 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 170640676 170640676 G A SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.2273 p.R758Q 0.915 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 58 0 0.00 22 3 12.00 RASAL2 0 genome.wustl.edu 37 1 178411903 178411903 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 178411903 178411903 C A SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.1021 p.L341I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 tier1 - - 55 0 0.00 46 4 8.00 RBM25 0 genome.wustl.edu 37 14 73577780 73577780 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 73577780 73577780 G T SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.1934 p.G645V 1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 tier1 - - 25 0 0.00 18 4 18.18 RBM26 0 genome.wustl.edu 37 13 79940817 79940817 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 79940817 79940817 G A SNP RBM26 ENST00000438724 human ensembl 74_37 -1 known silent c.1086 p.P362 0.988 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 tier1 - - 71 0 0.00 26 7 20.59 RBM6 0 genome.wustl.edu 37 3 50005402 50005402 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 50005402 50005402 G T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.544 p.D182Y 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 tier1 - - 49 0 0.00 15 3 16.67 RBMXL2 0 genome.wustl.edu 37 11 7110456 7110456 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 7110456 7110456 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.105 p.V35 0.007 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 67 0 0.00 24 14 36.84 RFC4 0 genome.wustl.edu 37 3 186508161 186508161 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 186508161 186508161 G A SNP RFC4 ENST00000296273 human ensembl 74_37 -1 known missense c.836 p.A279V 0.259 pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC4 HGNC ENSG00000163918 tier1 - - 32 0 0.00 16 3 15.79 RIBC1 0 genome.wustl.edu 37 X 53457932 53457932 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 53457932 53457932 G A SNP RIBC1 ENST00000375327 human ensembl 74_37 +1 known missense c.1136 p.R379H 1.000 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 tier1 - - 34 0 0.00 28 4 12.50 RIC3 0 genome.wustl.edu 37 11 8161539 8161539 + Frame_Shift_Del DEL A A - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 8161539 8161539 A 0 DEL RIC3 ENST00000309737 human ensembl 74_37 -1 known frame_shift_del c.326 p.L109fs 1.000 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 69 0 0.00 26 3 10.34 RIOK2 0 genome.wustl.edu 37 5 96514853 96514853 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 96514853 96514853 C G SNP RIOK2 ENST00000283109 human ensembl 74_37 -1 known missense c.111 p.L37F 0.895 pfam_RIO2_kinase_winged_hlx_N pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase - no_errors RIOK2 HGNC ENSG00000058729 tier1 - - 42 0 0.00 7 6 46.15 RNF169 0 genome.wustl.edu 37 11 74547540 74547540 + Nonsense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 74547540 74547540 T A SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known nonsense c.1892 p.L631* 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 tier1 - - 26 0 0.00 14 8 36.36 RNF17 0 genome.wustl.edu 37 13 25453387 25453387 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 25453387 25453387 G A SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known silent c.4836 p.P1612 0.004 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 34 0 0.00 12 11 47.83 RNF40 0 genome.wustl.edu 37 16 30777483 30777483 + Splice_Site SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 30777483 30777483 G C SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known splice_site c.994-1 e8-1 1.000 - - - no_errors RNF40 HGNC ENSG00000103549 34 0 0.00 20 2 9.09 RPN2 0 genome.wustl.edu 37 20 35865066 35865066 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 35865066 35865066 A G SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.1837 p.T613A 1.000 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 tier1 - - 38 0 0.00 25 3 10.71 RYR3 0 genome.wustl.edu 37 15 34064293 34064293 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 34064293 34064293 C A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8989 p.L2997M 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 40 0 0.00 31 2 6.06 SACS 0 genome.wustl.edu 37 13 23904549 23904549 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 23904549 23904549 T C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.13466 p.D4489G 1.000 pfam_HEPN,smart_HEPN,pfscan_HEPN pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 43 0 0.00 9 6 37.50 SAMD15 0 genome.wustl.edu 37 14 77845169 77845169 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 77845169 77845169 G C SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.1408 p.E470Q 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 36 0 0.00 23 2 8.00 SATB2 0 genome.wustl.edu 37 2 200136975 200136975 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 200136975 200136975 C G SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.2161 p.D721H 0.778 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 46 0 0.00 23 2 8.00 SCAF1 0 genome.wustl.edu 37 19 50154128 50154128 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 50154128 50154128 C G SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.482 p.S161C 1.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 13 0 0.00 3 4 57.14 SCAPER 0 genome.wustl.edu 37 15 76696914 76696914 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 76696914 76696914 C G SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.3418 p.A1140P 0.161 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 - - 35 0 0.00 15 4 21.05 SCN10A 0 genome.wustl.edu 37 3 38738990 38738990 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 38738990 38738990 G T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.5721 p.D1907E 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 50 0 0.00 19 5 20.83 SCN2B 0 genome.wustl.edu 37 11 118037675 118037675 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 118037675 118037675 C G SNP SCN2B ENST00000278947 human ensembl 74_37 -1 known missense c.575 p.S192T 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 43 0 0.00 14 3 17.65 SCUBE3 0 genome.wustl.edu 37 6 35216419 35216419 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 35216419 35216419 G A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known silent c.2967 p.L989 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 tier1 - - 35 0 0.00 15 3 16.67 SDC4 0 genome.wustl.edu 37 20 43955992 43955992 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 43955992 43955992 T G SNP SDC4 ENST00000372733 human ensembl 74_37 -1 known missense c.509 p.Y170S 1.000 pfam_Syndecan/Neurexin_dom,smart_Neurexin-like pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC4 HGNC ENSG00000124145 tier1 - - 25 0 0.00 25 9 26.47 SDK1 0 genome.wustl.edu 37 7 4152946 4152946 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 4152946 4152946 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3460 p.V1154I 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 72 0 0.00 41 4 8.89 SEC16B 0 genome.wustl.edu 37 1 177905447 177905447 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 177905447 177905447 T A SNP SEC16B ENST00000308284 human ensembl 74_37 -1 known missense c.2557 p.I853F 0.002 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 tier1 - - 57 0 0.00 46 7 13.21 SEC22B 0 genome.wustl.edu 37 1 145112376 145112376 + RNA SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 145112376 145112376 C G SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 - - 85 0 0.00 63 5 7.35 SEMA5B 0 genome.wustl.edu 37 3 122680064 122680064 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 122680064 122680064 G T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.209 p.P70H 0.000 NULL 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 SEMA5B HGNC ENSG00000082684 tier1 - - 40 0 0.00 33 6 15.38 SEPT7 0 genome.wustl.edu 37 7 35872451 35872452 + Frame_Shift_Ins INS - - A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 35872451 35872452 - A INS SEPT7 ENST00000399034 human ensembl 74_37 +1 known frame_shift_ins c.113_114 p.N39fs 1.000:1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin7 - no_errors SEPT7 HGNC ENSG00000122545 tier1 38 0 0.00 37 2 5.13 SERPINA10 0 genome.wustl.edu 37 14 94752565 94752565 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 94752565 94752565 C A SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known missense c.1023 p.K341N 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 26 0 0.00 27 2 6.90 SF3B3 0 genome.wustl.edu 37 16 70599151 70599151 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 70599151 70599151 G C SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.2647 p.E883Q 1.000 pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 tier1 - - 54 0 0.00 21 3 12.50 SGCZ 0 genome.wustl.edu 37 8 13947970 13947970 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 13947970 13947970 G T SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known missense c.921 p.N307K 0.999 NULL pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 tier1 - - 40 0 0.00 20 3 13.04 SH3D19 0 genome.wustl.edu 37 4 152086755 152086755 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 152086755 152086755 G T SNP SH3D19 ENST00000304527 human ensembl 74_37 -1 known missense c.788 p.A263D 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 tier1 - - 162 0 0.00 74 4 5.13 SHROOM2 0 genome.wustl.edu 37 X 9905366 9905367 + Frame_Shift_Ins INS - - T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 9905366 9905367 - T INS SHROOM2 ENST00000380913 human ensembl 74_37 +1 known frame_shift_ins c.3780_3781 p.C1260fs 1.000:1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 21 0 0.00 13 5 27.78 SLC12A6 0 genome.wustl.edu 37 15 34546616 34546616 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 34546616 34546616 C T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.1024 p.V342I 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 tier1 - - 54 0 0.00 20 6 23.08 SLC16A2 0 genome.wustl.edu 37 X 73641366 73641366 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 73641366 73641366 G T SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.116 p.G39V 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 tier1 - - 13 0 0.00 4 4 50.00 SLC1A5 0 genome.wustl.edu 37 19 47278775 47278775 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 47278775 47278775 C T SNP SLC1A5 ENST00000542575 human ensembl 74_37 -1 known missense c.1618 p.V540I 0.981 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 tier1 - - 48 0 0.00 36 4 10.00 SLC22A5 0 genome.wustl.edu 37 5 131721070 131721071 + Frame_Shift_Del DEL GT GT - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 131721070 131721071 GT - DEL SLC22A5 ENST00000435065 human ensembl 74_37 +1 known frame_shift_del c.775_776 p.C260fs 0.995:0.980 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A5 HGNC ENSG00000197375 tier1 81 0 0.00 39 10 20.41 SLC25A25 0 genome.wustl.edu 37 9 130866068 130866068 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 130866068 130866068 G A SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known missense c.733 p.V245I 0.998 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 34 0 0.00 16 4 20.00 SLC2A1 0 genome.wustl.edu 37 1 43394677 43394677 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 43394677 43394677 G A SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known missense c.1000 p.R334W 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 tier1 - - 23 0 0.00 9 6 40.00 SLC39A12 0 genome.wustl.edu 37 10 18282149 18282149 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 18282149 18282149 C A SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.1462 p.H488N 0.998 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 51 0 0.00 19 3 13.64 SLC9C1 0 genome.wustl.edu 37 3 111996674 111996674 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 111996674 111996674 T A SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.352 p.N118Y 0.954 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 - - 40 0 0.00 34 6 15.00 SMC6 0 genome.wustl.edu 37 2 17898069 17898069 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 17898069 17898069 G T SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.1363 p.Q455K 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 tier1 - - 94 0 0.00 40 4 8.89 SMG1 0 genome.wustl.edu 37 16 18856783 18856783 + Nonsense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 18856783 18856783 T A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known nonsense c.6187 p.K2063* 1.000 superfamily_Kinase-like_dom,superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 - - 68 0 0.00 40 5 11.11 SMG8 0 genome.wustl.edu 37 17 57290842 57290842 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 57290842 57290842 C T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known silent c.2658 p.D886 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 tier1 - - 34 0 0.00 21 11 34.38 SMIM15 0 genome.wustl.edu 37 5 60455836 60455836 + Nonsense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 60455836 60455836 G A SNP SMIM15 ENST00000339020 human ensembl 74_37 -1 known nonsense c.163 p.Q55* 1.000 NULL NULL - no_errors SMIM15 HGNC ENSG00000188725 tier1 - - 55 0 0.00 21 4 16.00 SMYD5 0 genome.wustl.edu 37 2 73448309 73448309 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 73448309 73448309 C T SNP SMYD5 ENST00000389501 human ensembl 74_37 +1 known missense c.484 p.P162S 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 tier1 - - 29 0 0.00 11 3 21.43 SNHG14 0 genome.wustl.edu 37 15 25415799 25415799 + RNA SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 25415799 25415799 C T SNP SNHG14 ENST00000553149 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 43 0 0.00 19 4 17.39 SNTG1 0 genome.wustl.edu 37 8 51617190 51617190 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 51617190 51617190 T C SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.1069 p.C357R 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 29 0 0.00 15 6 28.57 SOX10 0 genome.wustl.edu 37 22 38374120 38374120 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 38374120 38374120 G C SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known missense c.451 p.R151G 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 tier1 - - 23 0 0.00 14 4 22.22 SPATA6 0 genome.wustl.edu 37 1 48821377 48821377 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 48821377 48821377 A G SNP SPATA6 ENST00000371847 human ensembl 74_37 -1 known silent c.1159 p.L387 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 36 0 0.00 31 2 6.06 SPATS2L 0 genome.wustl.edu 37 2 201342432 201342432 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 201342432 201342432 C T SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.1445 p.S482L 0.326 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 35 0 0.00 32 3 8.57 SPDYA 0 genome.wustl.edu 37 2 29045256 29045256 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 29045256 29045256 G T SNP SPDYA ENST00000334056 human ensembl 74_37 +1 known missense c.360 p.R120S 1.000 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC ENSG00000163806 tier1 - - 94 0 0.00 59 4 6.35 SPTBN5 0 genome.wustl.edu 37 15 42169048 42169048 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 42169048 42169048 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.3810 p.H1270 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 44 0 0.00 18 3 14.29 SRCIN1 0 genome.wustl.edu 37 17 36719671 36719671 + Missense_Mutation SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 36719671 36719671 T A SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.628 p.I210F 1.000 pfam_AIP3_C pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 tier1 - - 48 0 0.00 18 4 18.18 SRMS 0 genome.wustl.edu 37 20 62178745 62178745 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 62178745 62178745 G A SNP SRMS ENST00000217188 human ensembl 74_37 -1 known silent c.72 p.G24 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 41 0 0.00 15 8 29.63 SRP54 0 genome.wustl.edu 37 14 35465940 35465940 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 35465940 35465940 A C SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.25 p.K9Q 1.000 pfam_Signal_recog_particl_SRP54_hlx,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 52 0 0.00 33 2 5.71 STAG3L4 0 genome.wustl.edu 37 7 66767611 66767611 + RNA DEL T T - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 66767611 66767611 T - DEL STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors STAG3L4 HGNC ENSG00000106610 tier1 86 0 0.00 45 6 11.76 STK39 0 genome.wustl.edu 37 2 168810763 168810763 + RNA SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 168810763 168810763 C T SNP STK39 ENST00000487143 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors STK39 HGNC ENSG00000198648 tier1 - - 62 0 0.00 38 4 9.52 STOX1 0 genome.wustl.edu 37 10 70646130 70646130 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 70646130 70646130 G C SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.2578 p.A860P 0.001 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 tier1 - - 25 0 0.00 16 5 23.81 SUSD4 0 genome.wustl.edu 37 1 223438154 223438154 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 223438154 223438154 A T SNP SUSD4 ENST00000343846 human ensembl 74_37 -1 known missense c.542 p.L181Q 1.000 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 SUSD4 HGNC ENSG00000143502 tier1 - - 26 0 0.00 9 6 40.00 SWI5 0 genome.wustl.edu 37 9 131046829 131046829 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 131046829 131046829 A T SNP SWI5 ENST00000320188 human ensembl 74_37 +1 known missense c.467 p.E156V 0.593 pfam_DNA-repair_Swi5 pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 tier1 - - 33 0 0.00 7 6 46.15 SYCP2 0 genome.wustl.edu 37 20 58443550 58443550 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 20 58443550 58443550 C T SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.3906 p.M1302I 0.006 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 53 0 0.00 48 3 5.88 SYNE1 0 genome.wustl.edu 37 6 152590290 152590290 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 152590290 152590290 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.18705 p.K6235N 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 50 0 0.00 28 3 9.68 SYNE1 0 genome.wustl.edu 37 6 152658135 152658135 + Silent SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 152658135 152658135 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.12369 p.V4123 0.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 37 0 0.00 25 2 7.41 SYNE1 0 genome.wustl.edu 37 6 152804261 152804261 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 152804261 152804261 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.1309 p.E437K 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 58 0 0.00 32 2 5.88 TAOK1 0 genome.wustl.edu 37 17 27794201 27794201 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 27794201 27794201 G A SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known silent c.171 p.K57 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 24 0 0.00 11 2 15.38 TAOK1 0 genome.wustl.edu 37 17 27822704 27822704 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 27822704 27822704 G A SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known missense c.958 p.A320T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 37 0 0.00 30 2 6.25 TARS 0 genome.wustl.edu 37 5 33445442 33445442 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 33445442 33445442 G A SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.70 p.E24K 0.183 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 tier1 - - 48 0 0.00 26 21 44.68 TAS2R7 0 genome.wustl.edu 37 12 10954817 10954817 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 10954817 10954817 A T SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known missense c.353 p.L118H 0.598 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 tier1 - - 39 0 0.00 15 5 25.00 TCF7L2 0 genome.wustl.edu 37 10 114849212 114849212 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 114849212 114849212 C T SNP TCF7L2 ENST00000355717 human ensembl 74_37 +1 known silent c.537 p.P179 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 tier1 - - 28 0 0.00 18 6 25.00 TECPR2 0 genome.wustl.edu 37 14 102916092 102916092 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 102916092 102916092 G C SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.3202 p.A1068P 1.000 superfamily_RCC1/BLIP-II pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 31 0 0.00 23 2 8.00 TENM2 0 genome.wustl.edu 37 5 167626888 167626888 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 167626888 167626888 A G SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.3182 p.E1061G 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 45 0 0.00 16 2 11.11 TENM3 0 genome.wustl.edu 37 4 183601454 183601454 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 183601454 183601454 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.1591 p.G531R 1.000 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 tier1 - - 62 0 0.00 37 6 13.95 TET1 0 genome.wustl.edu 37 10 70405161 70405161 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 70405161 70405161 T C SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.2675 p.V892A 0.978 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 48 0 0.00 16 5 23.81 THAP5 0 genome.wustl.edu 37 7 108206359 108206359 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 108206359 108206359 G T SNP THAP5 ENST00000415914 human ensembl 74_37 -1 known missense c.188 p.P63H 1.000 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 tier1 - - 46 0 0.00 33 4 10.81 THNSL1 0 genome.wustl.edu 37 10 25312532 25312532 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 25312532 25312532 G T SNP THNSL1 ENST00000376356 human ensembl 74_37 +1 known missense c.380 p.S127I 1.000 pfam_Shikimate_kinase/TSH1,superfamily_P-loop_NTPase pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like - no_errors THNSL1 HGNC ENSG00000185875 35 0 0.00 21 2 8.70 THRAP3 0 genome.wustl.edu 37 1 36769568 36769568 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 36769568 36769568 G T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.2818 p.G940W 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 72 0 0.00 35 2 5.26 THTPA 0 genome.wustl.edu 37 14 24026198 24026198 + Nonsense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 24026198 24026198 G T SNP THTPA ENST00000288014 human ensembl 74_37 +1 known nonsense c.232 p.E78* 0.017 pfam_CYTH-like_domain,superfamily_CYTH-like_domain,pirsf_ThTPase pfam_CYTH-like_domain,superfamily_CYTH-like_domain,pirsf_ThTPase - no_errors THTPA HGNC ENSG00000259431 tier1 - - 56 0 0.00 31 4 11.43 TM9SF2 0 genome.wustl.edu 37 13 100190111 100190111 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 13 100190111 100190111 C T SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.710 p.P237L 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 tier1 - - 46 0 0.00 24 6 20.00 TMEM132E 0 genome.wustl.edu 37 17 32963118 32963118 + Silent SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 32963118 32963118 G C SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known silent c.1800 p.V600 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 tier1 - - 51 0 0.00 35 6 14.63 TMEM135 0 genome.wustl.edu 37 11 86782653 86782653 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 86782653 86782653 A C SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known missense c.358 p.S120R 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 tier1 - - 110 0 0.00 43 7 14.00 TMEM147 0 genome.wustl.edu 37 19 36038043 36038043 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 36038043 36038043 C A SNP TMEM147 ENST00000222284 human ensembl 74_37 +1 known missense c.452 p.A151D 1.000 pfam_DUF2053_membrane pfam_DUF2053_membrane - no_errors TMEM147 HGNC ENSG00000105677 tier1 - - 41 0 0.00 16 5 23.81 TMEM2 0 genome.wustl.edu 37 9 74360015 74360015 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 74360015 74360015 G C SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.953 p.A318G 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 28 0 0.00 25 3 10.71 TMEM8A 0 genome.wustl.edu 37 16 427383 427383 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 427383 427383 A T SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.502 p.L168M 0.432 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 tier1 - - 47 0 0.00 22 5 18.52 TMPRSS11A 0 genome.wustl.edu 37 4 68780427 68780427 + Frame_Shift_Del DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 68780427 68780427 C - DEL TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known frame_shift_del c.983 p.R328fs 0.991 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 tier1 61 0 0.00 19 2 9.52 TNFRSF4 0 genome.wustl.edu 37 1 1147484 1147484 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 1147484 1147484 C A SNP TNFRSF4 ENST00000379236 human ensembl 74_37 -1 known missense c.472 p.A158S 0.040 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_4 - no_errors TNFRSF4 HGNC ENSG00000186827 tier1 - - 109 0 0.00 91 12 11.65 TNFSF15 0 genome.wustl.edu 37 9 117553227 117553227 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 117553227 117553227 A G SNP TNFSF15 ENST00000374044 human ensembl 74_37 -1 known silent c.30 p.S10 0.000 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 tier1 - - 19 0 0.00 12 6 33.33 TNIP3 0 genome.wustl.edu 37 4 122085277 122085277 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 122085277 122085277 C T SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.4 p.A2T 0.040 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 32 0 0.00 17 2 10.53 TNK2 0 genome.wustl.edu 37 3 195594983 195594983 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 195594983 195594983 C A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.2375 p.C792F 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 27 0 0.00 15 2 11.76 TNKS1BP1 0 genome.wustl.edu 37 11 57088071 57088071 + Silent SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 57088071 57088071 A T SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known silent c.210 p.G70 0.909 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 107 0 0.00 47 4 7.69 TNKS2 0 genome.wustl.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 93601945 93601946 0 A INS TNKS2 ENST00000371627 human ensembl 74_37 +1 known frame_shift_ins c.1856_1857 p.N622fs 1.000:0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 47 0 0.00 31 2 6.06 TOP2A 0 genome.wustl.edu 37 17 38567942 38567942 + Silent SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 38567942 38567942 T C SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known silent c.918 p.K306 1.000 pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 47 0 0.00 31 2 6.06 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 40 0 0.00 12 10 45.45 TP73 0 genome.wustl.edu 37 1 3639996 3639996 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 3639996 3639996 G C SNP TP73 ENST00000378295 human ensembl 74_37 +1 known missense c.695 p.G232A 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 tier1 - - 42 0 0.00 38 7 15.56 TRAPPC12 0 genome.wustl.edu 37 2 3483161 3483161 + Nonsense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 3483161 3483161 C T SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known nonsense c.2137 p.Q713* 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 tier1 - - 17 0 0.00 6 3 33.33 TRAPPC13 0 genome.wustl.edu 37 5 64946640 64946640 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 64946640 64946640 G C SNP TRAPPC13 ENST00000545191 human ensembl 74_37 +1 known missense c.432 p.L144F 1.000 pfam_DUF974 pfam_DUF974 - no_errors TRAPPC13 HGNC ENSG00000113597 tier1 - - 28 0 0.00 15 4 21.05 TRIM49 0 genome.wustl.edu 37 11 89537599 89537599 + Silent SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 89537599 89537599 G C SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known silent c.39 p.L13 0.004 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 - - 173 0 0.00 96 22 18.64 TRIOBP 0 genome.wustl.edu 37 22 38130719 38130719 + Nonsense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 22 38130719 38130719 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known nonsense c.4376 p.W1459* 0.127 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 55 0 0.00 19 9 32.14 TRMT10B 0 genome.wustl.edu 37 9 37768143 37768143 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 37768143 37768143 G T SNP TRMT10B ENST00000297994 human ensembl 74_37 +1 known missense c.491 p.W164L 1.000 pfam_tRNA_m1G_MeTrfase pfam_tRNA_m1G_MeTrfase - no_errors TRMT10B HGNC ENSG00000165275 tier1 - - 49 0 0.00 17 3 15.00 TRPA1 0 genome.wustl.edu 37 8 72942163 72942163 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 72942163 72942163 A T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2910 p.H970Q 0.997 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 58 0 0.00 28 14 33.33 TRRAP 0 genome.wustl.edu 37 7 98515105 98515105 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 98515105 98515105 C G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2425 p.L809V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 43 0 0.00 22 5 18.52 TSC2 0 genome.wustl.edu 37 16 2130299 2130299 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 2130299 2130299 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.3531 p.V1177 0.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 - - 66 0 0.00 48 15 23.81 TSC22D2 0 genome.wustl.edu 37 3 150128711 150128711 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 3 150128711 150128711 C T SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known missense c.1574 p.S525F 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 tier1 rs139411630 - 41 0 0.00 20 5 20.00 TSHR 0 genome.wustl.edu 37 14 81610476 81610476 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 81610476 81610476 C A SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.2074 p.L692I 1.000 prints_Gphrmn_rcpt_fam pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 74 0 0.00 35 2 5.41 TSPAN1 0 genome.wustl.edu 37 1 46650025 46650025 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 46650025 46650025 G C SNP TSPAN1 ENST00000372003 human ensembl 74_37 +1 known missense c.220 p.G74R 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN1 HGNC ENSG00000117472 tier1 - - 50 0 0.00 23 7 23.33 TSPAN31 0 genome.wustl.edu 37 12 58139586 58139586 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 58139586 58139586 C T SNP TSPAN31 ENST00000257910 human ensembl 74_37 +1 known missense c.122 p.S41F 1.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,prints_Tetraspanin - no_errors TSPAN31 HGNC ENSG00000135452 39 0 0.00 12 2 14.29 TTC16 0 genome.wustl.edu 37 9 130485567 130485567 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 130485567 130485567 G A SNP TTC16 ENST00000373289 human ensembl 74_37 +1 known missense c.827 p.R276H 0.985 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 tier1 - - 27 0 0.00 13 7 35.00 TTC23L 0 genome.wustl.edu 37 5 34864642 34864642 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 5 34864642 34864642 A G SNP TTC23L ENST00000505624 human ensembl 74_37 +1 known missense c.637 p.N213D 1.000 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 tier1 - - 51 0 0.00 30 4 11.76 TTC40 0 genome.wustl.edu 37 10 134686228 134686228 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 134686228 134686228 G A SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.4463 p.S1488L 0.002 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 42 0 0.00 17 3 15.00 TTK 0 genome.wustl.edu 37 6 80721267 80721267 + Splice_Site SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 80721267 80721267 T A SNP TTK ENST00000369798 human ensembl 74_37 +1 known splice_site c.728+2 e5+2 1.000 - - - no_errors TTK HGNC ENSG00000112742 tier1 - - 34 0 0.00 14 5 26.32 TTN 0 genome.wustl.edu 37 2 179443557 179443557 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 179443557 179443557 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60496 p.P20166T 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 50 0 0.00 13 6 31.58 TTN 0 genome.wustl.edu 37 2 179631200 179631200 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 179631200 179631200 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9611 p.R3204Q 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 58 0 0.00 18 8 30.77 TUFM 0 genome.wustl.edu 37 16 28857357 28857357 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 28857357 28857357 G A SNP TUFM ENST00000313511 human ensembl 74_37 -1 known silent c.123 p.L41 0.002 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 tier1 - - 79 0 0.00 49 7 12.50 UBA1 0 genome.wustl.edu 37 X 47058627 47058627 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 47058627 47058627 G A SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known missense c.196 p.A66T 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 tier1 - - 28 0 0.00 10 12 54.55 UBR1 0 genome.wustl.edu 37 15 43307940 43307940 + Missense_Mutation SNP T T G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 43307940 43307940 T G SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.3155 p.Y1052S 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 tier1 - - 37 0 0.00 14 10 41.67 UMODL1 0 genome.wustl.edu 37 21 43531564 43531564 + Silent SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 21 43531564 43531564 C G SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.2232 p.T744 0.000 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 46 0 0.00 19 6 24.00 UNC5C 0 genome.wustl.edu 37 4 96140250 96140250 + Missense_Mutation SNP C C A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 4 96140250 96140250 C A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1515 p.M505I 0.992 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 - - 45 0 0.00 17 4 19.05 USH1G 0 genome.wustl.edu 37 17 72915838 72915838 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 72915838 72915838 C T SNP USH1G ENST00000319642 human ensembl 74_37 -1 known missense c.1093 p.D365N 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 tier1 - - 26 0 0.00 16 4 20.00 USP32P1 0 genome.wustl.edu 37 17 16699483 16699483 + RNA SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 16699483 16699483 T A SNP USP32P1 ENST00000393005 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors USP32P1 HGNC ENSG00000188933 tier1 - - 66 0 0.00 12 5 29.41 USP50 0 genome.wustl.edu 37 15 50793017 50793017 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 50793017 50793017 C T SNP USP50 ENST00000532404 human ensembl 74_37 -1 known silent c.954 p.L318 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP50 HGNC ENSG00000170236 tier1 - - 27 0 0.00 11 3 21.43 USP54 0 genome.wustl.edu 37 10 75305350 75305350 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 75305350 75305350 G A SNP USP54 ENST00000339859 human ensembl 74_37 -1 known silent c.321 p.F107 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 58 0 0.00 29 3 9.38 VASH1 0 genome.wustl.edu 37 14 77236284 77236284 + RNA SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 77236284 77236284 G A SNP VASH1 ENST00000556038 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors VASH1 HGNC ENSG00000071246 tier1 - - 58 0 0.00 24 10 29.41 VEZF1 0 genome.wustl.edu 37 17 56060674 56060674 + Silent SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 56060674 56060674 A C SNP VEZF1 ENST00000581208 human ensembl 74_37 -1 known silent c.114 p.P38 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 tier1 - - 59 0 0.00 29 7 19.44 VPS13A 0 genome.wustl.edu 37 9 79890564 79890564 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 79890564 79890564 C T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.2663 p.P888L 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 54 0 0.00 21 10 32.26 VPS13A 0 genome.wustl.edu 37 9 79917908 79917908 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 79917908 79917908 G T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.3890 p.R1297L 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 90 0 0.00 34 13 27.08 VPS28 0 genome.wustl.edu 37 8 145650186 145650186 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 145650186 145650186 G A SNP VPS28 ENST00000377348 human ensembl 74_37 -1 known missense c.317 p.A106V 0.998 pfam_VPS28,pirsf_VPS28 pfam_VPS28,pirsf_VPS28 - no_errors VPS28 HGNC ENSG00000160948 tier1 - - 50 0 0.00 16 4 20.00 VPS35 0 genome.wustl.edu 37 16 46717491 46717491 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 46717491 46717491 C G SNP VPS35 ENST00000299138 human ensembl 74_37 -1 known missense c.31 p.E11Q 1.000 NULL pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 49 0 0.00 35 3 7.89 VPS37C 0 genome.wustl.edu 37 11 60899821 60899821 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 11 60899821 60899821 C T SNP VPS37C ENST00000301765 human ensembl 74_37 -1 known missense c.539 p.R180H 0.026 NULL pfam_Mod_r - no_errors VPS37C HGNC ENSG00000167987 tier1 - - 28 0 0.00 16 5 23.81 VSX2 0 genome.wustl.edu 37 14 74726342 74726342 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 74726342 74726342 G C SNP VSX2 ENST00000261980 human ensembl 74_37 +1 known missense c.617 p.R206P 0.999 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors VSX2 HGNC ENSG00000119614 tier1 - - 59 0 0.00 31 11 26.19 WBSCR17 0 genome.wustl.edu 37 7 71036303 71036303 + Silent SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 71036303 71036303 C G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.996 p.V332 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 85 0 0.00 33 2 5.71 WDR20 0 genome.wustl.edu 37 14 102676056 102676056 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 102676056 102676056 A T SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known missense c.1642 p.M548L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 10 0 0.00 4 2 33.33 WDR91 0 genome.wustl.edu 37 7 134891942 134891942 + Missense_Mutation SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 7 134891942 134891942 A G SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known missense c.524 p.I175T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 47 0 0.00 19 2 9.52 WFIKKN2 0 genome.wustl.edu 37 17 48917666 48917666 + Missense_Mutation SNP A A T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 48917666 48917666 A T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.1017 p.E339D 0.993 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 tier1 - - 45 0 0.00 40 8 16.67 WIPF2 0 genome.wustl.edu 37 17 38434657 38434657 + RNA SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 38434657 38434657 G T SNP WIPF2 ENST00000494757 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WIPF2 HGNC ENSG00000171475 tier1 - - 34 0 0.00 19 5 20.83 XPO7 0 genome.wustl.edu 37 8 21832255 21832255 + Frame_Shift_Del DEL C C - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 21832255 21832255 C 0 DEL XPO7 ENST00000434536 human ensembl 74_37 +1 known frame_shift_del c.594 p.F199fs 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 65 0 0.00 18 3 14.29 XPO7 0 genome.wustl.edu 37 8 21832259 21832259 + Missense_Mutation SNP A A C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 21832259 21832259 A C SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.598 p.T200P 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 65 0 0.00 17 3 15.00 XPO7 0 genome.wustl.edu 37 8 21832262 21832262 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 21832262 21832262 C G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.601 p.L201V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 65 0 0.00 18 3 14.29 XPOT 0 genome.wustl.edu 37 12 64811879 64811879 + Nonsense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 64811879 64811879 C G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known nonsense c.254 p.S85* 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 24 0 0.00 7 2 22.22 ZCCHC11 0 genome.wustl.edu 37 1 52991558 52991558 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 52991558 52991558 G A SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.395 p.P132L 0.934 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 - - 87 0 0.00 43 9 17.31 ZDBF2 0 genome.wustl.edu 37 2 207174791 207174791 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 2 207174791 207174791 G T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.5539 p.V1847L 1.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 39 0 0.00 28 2 6.67 ZFHX4 0 genome.wustl.edu 37 8 77616662 77616662 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 77616662 77616662 G C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.339 p.E113D 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 tier1 - - 40 0 0.00 16 4 20.00 ZFHX4 0 genome.wustl.edu 37 8 77765554 77765554 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 8 77765554 77765554 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.6397 p.R2133W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 tier1 - - 35 0 0.00 24 5 17.24 ZFYVE9 0 genome.wustl.edu 37 1 52805903 52805903 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 52805903 52805903 G A SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known silent c.3939 p.E1313 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 - - 50 0 0.00 36 4 10.00 ZIM2 0 genome.wustl.edu 37 19 57293467 57293467 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 57293467 57293467 C G SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.500 p.G167A 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 tier1 - - 30 0 0.00 12 5 29.41 ZKSCAN4 0 genome.wustl.edu 37 6 28213173 28213173 + Silent SNP A A G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 6 28213173 28213173 A G SNP ZKSCAN4 ENST00000377294 human ensembl 74_37 -1 known silent c.1359 p.I453 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 tier1 - - 59 0 0.00 39 4 9.30 ZNF207 0 genome.wustl.edu 37 17 30696738 30696738 + Missense_Mutation SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 17 30696738 30696738 G C SNP ZNF207 ENST00000394670 human ensembl 74_37 +1 known missense c.1445 p.G482A 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 tier1 - - 18 0 0.00 17 8 32.00 ZNF219 0 genome.wustl.edu 37 14 21558826 21558826 + Frame_Shift_Del DEL G G - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 14 21558826 21558826 G - DEL ZNF219 ENST00000360947 human ensembl 74_37 -1 known frame_shift_del c.2038 p.Q680fs 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt - no_errors ZNF219 HGNC ENSG00000165804 tier1 25 0 0.00 11 2 15.38 ZNF384 0 genome.wustl.edu 37 12 6777029 6777029 + Frame_Shift_Del DEL G G - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 12 6777029 6777029 G - DEL ZNF384 ENST00000361959 human ensembl 74_37 -1 known frame_shift_del c.1585 p.Q529fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 tier1 52 0 0.00 33 5 13.16 ZNF460 0 genome.wustl.edu 37 19 57802868 57802868 + Missense_Mutation SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 57802868 57802868 G A SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.959 p.S320N 0.003 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 ZNF460 HGNC ENSG00000197714 tier1 - - 40 0 0.00 19 13 40.62 ZNF461 0 genome.wustl.edu 37 19 37128584 37128585 + RNA INS - - A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 37128584 37128585 - A INS ZNF461 ENST00000589442 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.035 - - - no_errors ZNF461 HGNC ENSG00000197808 tier1 28 0 0.00 28 3 9.68 ZNF469 0 genome.wustl.edu 37 16 88500503 88500503 + Missense_Mutation SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 16 88500503 88500503 G T SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.6541 p.A2181S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 110 0 0.00 52 5 8.77 ZNF483 0 genome.wustl.edu 37 9 114305075 114305075 + Silent SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 9 114305075 114305075 G T SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known silent c.1860 p.T620 0.009 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 64 0 0.00 38 2 5.00 ZNF485 0 genome.wustl.edu 37 10 44112087 44112087 + Nonsense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 10 44112087 44112087 C G SNP ZNF485 ENST00000361807 human ensembl 74_37 +1 known nonsense c.596 p.S199* 0.552 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 ZNF485 HGNC ENSG00000198298 44 0 0.00 29 2 6.45 ZNF491 0 genome.wustl.edu 37 19 11915443 11915443 + RNA SNP G G C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 11915443 11915443 G C SNP ZNF491 ENST00000492230 human ensembl 74_37 +1 known rna NULL NULL 0.909 - - - no_errors ZNF491 HGNC ENSG00000177599 tier1 - - 83 0 0.00 48 4 7.69 ZNF702P 0 genome.wustl.edu 37 19 53473854 53473854 + RNA SNP T T A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 53473854 53473854 T A SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF702P HGNC ENSG00000242779 tier1 - - 71 0 0.00 31 13 29.55 ZNF710 0 genome.wustl.edu 37 15 90611143 90611143 + Silent SNP G G A TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 15 90611143 90611143 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known silent c.774 p.T258 0.091 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 80 0 0.00 45 9 16.67 ZNF749 0 genome.wustl.edu 37 19 57955138 57955138 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 57955138 57955138 C G SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known missense c.622 p.Q208E 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 ZNF749 HGNC ENSG00000186230 tier1 - - 28 0 0.00 18 4 18.18 ZNF772 0 genome.wustl.edu 37 19 57987094 57987094 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 57987094 57987094 C G SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.133 p.D45H 0.999 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 ZNF772 HGNC ENSG00000197128 99 0 0.00 53 4 7.02 ZNF81 0 genome.wustl.edu 37 X 47775831 47775831 + Missense_Mutation SNP C C G TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f X 47775831 47775831 C G SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.1786 p.H596D 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ENSG00000197779 tier1 - - 30 0 0.00 7 11 61.11 ZNF98 0 genome.wustl.edu 37 19 22574641 22574641 + Missense_Mutation SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 19 22574641 22574641 C T SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.1396 p.E466K 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 tier1 - - 60 0 0.00 24 4 14.29 ZYG11A 0 genome.wustl.edu 37 1 53323273 53323273 + Missense_Mutation SNP T T C TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2174ecb1-09fd-4f64-ad02-328e19aff1d8 e9e4d67d-bc41-464a-9021-ff58fe4f406f 1 53323273 53323273 T C SNP ZYG11A ENST00000371528 human ensembl 74_37 +1 known missense c.860 p.V287A 0.042 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 tier1 - - 33 0 0.00 21 4 16.00