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 ACSS3 0 genome.wustl.edu 37 12 81627164 81627164 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 81627164 81627164 G A SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 40 0 0.00 87 16 15.53 ADCY7 0 genome.wustl.edu 37 16 50334726 50334726 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 16 50334726 50334726 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.1177 p.D393N 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 tier1 - - 23 0 0.00 36 14 28.00 AGBL3 0 genome.wustl.edu 37 7 134719125 134719125 + Missense_Mutation SNP C C G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 7 134719125 134719125 C G SNP AGBL3 ENST00000458078 human ensembl 74_37 +1 known missense c.705 p.D235E 0.996 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 tier1 - - 14 0 0.00 20 7 25.93 AMY1B 0 genome.wustl.edu 37 1 104234015 104234015 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 104234015 104234015 C T SNP AMY1B ENST00000330330 human ensembl 74_37 -1 known silent c.1002 p.R334 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1B HGNC ENSG00000174876 tier1 - - 77 0 0.00 131 16 10.88 ANXA7 0 genome.wustl.edu 37 10 75135833 75135834 + RNA INS - - A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 10 75135833 75135834 - A INS ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.032:0.003 - - - no_errors ANXA7 HGNC ENSG00000138279 tier1 22 0 0.00 34 6 15.00 APOB 0 genome.wustl.edu 37 2 21231903 21231903 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 21231903 21231903 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.7837 p.Q2613K 0.987 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 32 0 0.00 59 6 9.23 ARID1B 0 genome.wustl.edu 37 6 157527315 157527315 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 157527315 157527315 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known silent c.5160 p.L1720 0.020 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 - - 23 0 0.00 30 7 18.92 ARPP21 0 genome.wustl.edu 37 3 35763159 35763159 + Missense_Mutation SNP T T G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 35763159 35763159 T G SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.956 p.L319R 0.989 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 11 0 0.00 11 10 47.62 ASTN1 0 genome.wustl.edu 37 1 176926901 176926901 + Silent SNP C C A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 176926901 176926901 C A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.1824 p.P608 0.111 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 11 0 0.00 29 12 29.27 ATF7IP 0 genome.wustl.edu 37 12 14650645 14650645 + Missense_Mutation SNP C C G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 14650645 14650645 C G SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.3451 p.L1151V 0.983 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 tier1 - - 9 0 0.00 22 7 24.14 ATP11B 0 genome.wustl.edu 37 3 182586882 182586883 + Frame_Shift_Ins INS - - T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 182586882 182586883 - T INS ATP11B ENST00000323116 human ensembl 74_37 +1 known frame_shift_ins c.1705_1706 p.L570fs 0.899:0.993 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 ATP11B HGNC ENSG00000058063 tier1 59 0 0.00 144 20 12.20 ATP9A 0 genome.wustl.edu 37 20 50221436 50221436 + Missense_Mutation SNP C C A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 20 50221436 50221436 C A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.2927 p.W976L 1.000 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 ATP9A HGNC ENSG00000054793 tier1 - - 18 0 0.00 31 9 22.50 BAGE5 0 genome.wustl.edu 37 GL000237.1 2485 2485 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e GL000237.1 2485 2485 C T SNP BAGE5 ENST00000602027 human ensembl 74_37 -1 known missense c.3 p.M1I NULL pfam_BAGE pfam_BAGE - no_errors BAGE5 HGNC ENSG00000268590 tier1 - - 22 0 0.00 48 13 21.31 BICD2 0 genome.wustl.edu 37 9 95481107 95481107 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 9 95481107 95481107 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.1820 p.P607L 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 tier1 - - 12 0 0.00 8 10 55.56 C11orf73 0 genome.wustl.edu 37 11 86056753 86056753 + RNA SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 11 86056753 86056753 A G SNP C11orf73 ENST00000531485 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C11orf73 HGNC ENSG00000149196 tier1 - - 24 0 0.00 22 21 48.84 C17orf78 0 genome.wustl.edu 37 17 35736300 35736300 + Missense_Mutation SNP G G C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 17 35736300 35736300 G C SNP C17orf78 ENST00000300618 human ensembl 74_37 +1 known missense c.371 p.G124A 0.115 NULL NULL - no_errors C17orf78 HGNC ENSG00000167230 tier1 - - 14 0 0.00 29 12 29.27 C6orf58 0 genome.wustl.edu 37 6 127911258 127911258 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 127911258 127911258 C T SNP C6orf58 ENST00000329722 human ensembl 74_37 +1 known missense c.701 p.A234V 0.156 pfam_DUF781 pfam_DUF781 - no_errors C6orf58 HGNC ENSG00000184530 tier1 - - 34 0 0.00 74 10 11.90 C8orf34 0 genome.wustl.edu 37 8 69243280 69243280 + Missense_Mutation SNP G G C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 8 69243280 69243280 G C SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.33 p.E11D 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 11 0 0.00 14 5 26.32 CCDC30 0 genome.wustl.edu 37 1 43111845 43111845 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 43111845 43111845 G T SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.1930 p.G644C 0.743 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 tier1 - - 46 0 0.00 69 4 5.48 CCER1 0 genome.wustl.edu 37 12 91347661 91347661 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 91347661 91347661 C T SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known missense c.859 p.E287K 0.011 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 tier1 - - 16 0 0.00 23 14 37.84 CCHCR1 0 genome.wustl.edu 37 6 31122453 31122453 + Missense_Mutation SNP C C G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 31122453 31122453 C G SNP CCHCR1 ENST00000396268 human ensembl 74_37 -1 known missense c.621 p.Q207H 1.000 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 tier1 - - 8 0 0.00 15 8 34.78 CCSER2 0 genome.wustl.edu 37 10 86273532 86273532 + Missense_Mutation SNP C C G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 10 86273532 86273532 C G SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known missense c.2653 p.P885A 0.018 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 tier1 - - 19 0 0.00 34 13 27.66 CCT2 0 genome.wustl.edu 37 12 69986782 69986782 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 69986782 69986782 C T SNP CCT2 ENST00000299300 human ensembl 74_37 +1 known silent c.777 p.D259 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 tier1 - - 43 0 0.00 68 32 32.00 CLASP2 0 genome.wustl.edu 37 3 33686848 33686848 + RNA SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 33686848 33686848 C T SNP CLASP2 ENST00000476433 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 24 0 0.00 31 19 38.00 CLCA2 0 genome.wustl.edu 37 1 86900239 86900239 + Missense_Mutation SNP A A C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 86900239 86900239 A C SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.783 p.E261D 1.000 pfam_Cl_channel_Ca,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 - - 23 0 0.00 38 19 33.33 CLDN9 0 genome.wustl.edu 37 16 3063367 3063367 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 16 3063367 3063367 G A SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known missense c.4 p.A2T 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 tier1 - - 12 0 0.00 15 11 42.31 CMTM8 0 genome.wustl.edu 37 3 32409471 32409471 + Silent SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 32409471 32409471 G T SNP CMTM8 ENST00000307526 human ensembl 74_37 +1 known silent c.429 p.A143 0.006 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors CMTM8 HGNC ENSG00000170293 tier1 - - 11 0 0.00 6 8 57.14 CNTNAP3 0 genome.wustl.edu 37 9 39073896 39073899 + Frame_Shift_Del DEL TTCT TTCT - TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 TTCT TTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 9 39073896 39073899 TTCT - DEL CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known frame_shift_del c.3858_3855 p.E1286fs 0.987:0.983:0.986:0.966 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 8 0 0.00 16 12 42.86 COBLL1 0 genome.wustl.edu 37 2 165548881 165548881 + Missense_Mutation SNP C C G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 165548881 165548881 C G SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.3465 p.Q1155H 0.976 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 - - 23 0 0.00 54 9 14.29 COL15A1 0 genome.wustl.edu 37 9 101818559 101818559 + Silent SNP A A C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 9 101818559 101818559 A C SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known silent c.3210 p.T1070 0.000 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 tier1 - - 17 0 0.00 12 20 62.50 COL6A1 0 genome.wustl.edu 37 21 47423346 47423346 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 21 47423346 47423346 G A SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.2506 p.G836S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 13 0 0.00 8 23 74.19 CSMD3 0 genome.wustl.edu 37 8 113314147 113314147 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 8 113314147 113314147 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8315 p.G2772E 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 18 0 0.00 59 12 16.90 DCAF12L1 0 genome.wustl.edu 37 X 125685222 125685222 + Missense_Mutation SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e X 125685222 125685222 T C SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.1370 p.N457S 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 21 0 0.00 30 35 53.85 DDX3X 0 genome.wustl.edu 37 X 41207100 41207100 + RNA DEL T T - TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e X 41207100 41207100 T - DEL DDX3X ENST00000478993 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DDX3X HGNC ENSG00000215301 tier1 14 0 0.00 21 4 16.00 DHX32 0 genome.wustl.edu 37 10 127548228 127548228 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 10 127548228 127548228 C T SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.793 p.E265K 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 tier1 - - 38 0 0.00 66 7 9.59 DHX35 0 genome.wustl.edu 37 20 37650518 37650518 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 20 37650518 37650518 C T SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.1533 p.I511 0.805 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 tier1 - - 29 0 0.00 41 8 16.33 DNAH8 0 genome.wustl.edu 37 6 38854597 38854597 + Nonsense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 38854597 38854597 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known nonsense c.7639 p.E2547* 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 - - 12 0 0.00 39 13 25.00 DNM1P47 0 genome.wustl.edu 37 15 102312241 102312241 + RNA DEL A A - TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 15 102312241 102312241 A - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 8 0 0.00 4 8 66.67 DRD2 0 genome.wustl.edu 37 11 113295305 113295305 + Silent SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 11 113295305 113295305 G A SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known silent c.69 p.N23 0.209 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 tier1 rs200831689 - 18 0 0.00 33 6 15.38 DYSF 0 genome.wustl.edu 37 2 71906280 71906280 + Missense_Mutation SNP A A C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 71906280 71906280 A C SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.5954 p.E1985A 0.960 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 29 0 0.00 58 8 12.12 EN1 0 genome.wustl.edu 37 2 119600737 119600737 + Missense_Mutation SNP T T G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 119600737 119600737 T G SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.956 p.K319T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 tier1 - - 10 0 0.00 22 14 38.89 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117491 117491 + Missense_Mutation SNP G G C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e GL000205.1 117491 117491 G C SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.122 p.G41A NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 tier1 - - 9 0 0.00 25 5 16.67 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117561 117561 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e GL000205.1 117561 117561 C T SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known silent c.192 p.S64 NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 tier1 - - 10 0 0.00 19 7 26.92 ENSG00000221018 0 genome.wustl.edu 37 8 39613675 39613675 + RNA SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 8 39613675 39613675 A G SNP ENSG00000221018 ENST00000408091 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors AC136365.1 Clone_based_ensembl_gene ENSG00000221018 tier1 - - 36 0 0.00 98 13 11.71 ENSG00000221474 0 genome.wustl.edu 37 3 122000727 122000728 + RNA INS - - TG TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 122000727 122000728 - TG INS ENSG00000221474 ENST00000408547 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC068754.1 Clone_based_ensembl_gene ENSG00000221474 tier1 11 0 0.00 27 2 6.90 ENSG00000231242 0 genome.wustl.edu 37 9 69083127 69083127 + RNA SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 9 69083127 69083127 A G SNP ENSG00000231242 ENST00000412376 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-87H9.3 Clone_based_vega_gene ENSG00000231242 tier1 - - 54 0 0.00 68 10 12.82 ENSG00000232220 0 genome.wustl.edu 37 19 54379103 54379104 + RNA INS - - A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 54379103 54379104 - A INS ENSG00000232220 ENST00000413496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 tier1 10 0 0.00 27 8 22.86 ENSG00000234978 0 genome.wustl.edu 37 1 142803240 142803240 + RNA SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 142803240 142803240 G A SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 rs76010818 - 37 0 0.00 74 9 10.84 ENSG00000239969 0 genome.wustl.edu 37 7 102021027 102021027 + RNA SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 7 102021027 102021027 T C SNP ENSG00000239969 ENST00000484974 human ensembl 74_37 +1 known rna NULL NULL 0.052 - - - no_errors RP11-163E9.2 Clone_based_vega_gene ENSG00000239969 tier1 - - 27 0 0.00 32 5 13.51 ENSG00000256341 0 genome.wustl.edu 37 11 63886079 63886079 + RNA SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 11 63886079 63886079 C T SNP ENSG00000256341 ENST00000543817 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-21A7A.3 Clone_based_vega_gene ENSG00000256341 tier1 - - 73 0 0.00 239 15 5.84 ENSG00000264877 0 genome.wustl.edu 37 9 137740955 137740955 + RNA SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 9 137740955 137740955 A G SNP ENSG00000264877 ENST00000581079 human ensembl 74_37 -1 novel rna NULL NULL 0.061 - - - no_errors AL603650.2 Clone_based_ensembl_gene ENSG00000264877 tier1 - - 8 0 0.00 9 7 43.75 ENSG00000264877 0 genome.wustl.edu 37 9 137740961 137740961 + RNA SNP A A C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 9 137740961 137740961 A C SNP ENSG00000264877 ENST00000581079 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL603650.2 Clone_based_ensembl_gene ENSG00000264877 tier1 - - 8 0 0.00 7 7 46.67 ENSG00000272053 0 genome.wustl.edu 37 6 25042287 25042287 + RNA DEL A A - TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 25042287 25042287 A - DEL ENSG00000272053 ENST00000606385 human ensembl 74_37 -1 known rna NULL NULL 0.045 - - - no_errors RP11-367G6.3 Clone_based_vega_gene ENSG00000272053 tier1 9 0 0.00 19 7 26.92 ENSG00000273253 0 genome.wustl.edu 37 22 50637604 50637604 + RNA SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 22 50637604 50637604 C T SNP ENSG00000273253 ENST00000608025 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-402G11.26 Clone_based_vega_gene ENSG00000273253 tier1 rs202137436 - 49 0 0.00 67 27 28.72 FAM208A 0 genome.wustl.edu 37 3 56681036 56681036 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 56681036 56681036 G A SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.1729 p.P577S 0.927 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 tier1 - - 59 0 0.00 56 44 44.00 FAM227B 0 genome.wustl.edu 37 15 49867238 49867238 + Silent SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 15 49867238 49867238 G A SNP FAM227B ENST00000299338 human ensembl 74_37 -1 known silent c.615 p.S205 0.910 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 tier1 - - 54 0 0.00 90 12 11.76 FAM71B 0 genome.wustl.edu 37 5 156592876 156592876 + Missense_Mutation SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 5 156592876 156592876 A G SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.304 p.W102R 0.000 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 tier1 - - 11 0 0.00 13 11 45.83 FCRL2 0 genome.wustl.edu 37 1 157740416 157740416 + Silent SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 157740416 157740416 T C SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known silent c.93 p.G31 0.936 smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 11 0 0.00 25 9 26.47 FLT3LG 0 genome.wustl.edu 37 19 49979702 49979702 + Nonsense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 49979702 49979702 G A SNP FLT3LG ENST00000594009 human ensembl 74_37 +1 known nonsense c.221 p.W74* 0.951 pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core - no_errors FLT3LG HGNC ENSG00000090554 tier1 - - 31 0 0.00 24 16 40.00 FRG1 0 genome.wustl.edu 37 4 190878599 190878599 + Missense_Mutation SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 4 190878599 190878599 A G SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.479 p.N160S 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 tier1 - - 85 0 0.00 176 15 7.85 FRG1B 0 genome.wustl.edu 37 20 29614264 29614264 + Splice_Site SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 20 29614264 29614264 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.997 - - - no_errors FRG1B HGNC ENSG00000149531 tier1 - - 53 0 0.00 105 13 11.02 GABRA1 0 genome.wustl.edu 37 5 161317917 161317917 + Silent SNP T T G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 5 161317917 161317917 T G SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.717 p.V239 0.989 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 21 0 0.00 29 22 43.14 GALNT14 0 genome.wustl.edu 37 2 31147091 31147091 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 31147091 31147091 C T SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.1274 p.R425Q 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 tier1 - - 27 0 0.00 68 9 11.54 GCC2 0 genome.wustl.edu 37 2 109086172 109086172 + Silent SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 109086172 109086172 A G SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known silent c.387 p.K129 0.991 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 46 0 0.00 58 30 34.09 GPR98 0 genome.wustl.edu 37 5 90144561 90144561 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 5 90144561 90144561 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.17127 p.F5709 1.000 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 - - 34 0 0.00 60 8 11.76 GRIA3 0 genome.wustl.edu 37 X 122318472 122318472 + Nonsense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e X 122318472 122318472 G T SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known nonsense c.85 p.G29* 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA3 HGNC ENSG00000125675 tier1 - - 52 0 0.00 89 92 50.83 HNRNPR 0 genome.wustl.edu 37 1 23636874 23636875 + RNA INS - - T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 23636874 23636875 - T INS HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 0.973:0.936 - - - no_errors HNRNPR HGNC ENSG00000125944 tier1 19 0 0.00 55 6 9.84 HSP90AB1 0 genome.wustl.edu 37 6 44221086 44221086 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 44221086 44221086 G A SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.2036 p.R679H 1.000 pfam_Hsp90_fam,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 tier1 rs199811663 - 30 0 0.00 42 9 17.65 KDM6B 0 genome.wustl.edu 37 17 7749410 7749410 + Missense_Mutation SNP G G C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 17 7749410 7749410 G C SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.251 p.R84T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 tier1 - - 10 0 0.00 24 13 35.14 KLHL32 0 genome.wustl.edu 37 6 97578788 97578788 + Silent SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 97578788 97578788 T C SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known silent c.1569 p.T523 0.996 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 tier1 - - 30 0 0.00 69 18 20.69 KLHL38 0 genome.wustl.edu 37 8 124658211 124658211 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 8 124658211 124658211 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known missense c.1514 p.A505V 0.999 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 KLHL38 HGNC ENSG00000175946 tier1 - - 26 0 0.00 55 15 21.43 LETMD1 0 genome.wustl.edu 37 12 51442890 51442890 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 51442890 51442890 G T SNP LETMD1 ENST00000262055 human ensembl 74_37 +1 known missense c.196 p.A66S 0.379 NULL pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 tier1 - - 43 0 0.00 65 4 5.80 LINC00116 0 genome.wustl.edu 37 2 110970017 110970017 + RNA SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 110970017 110970017 C T SNP LINC00116 ENST00000414416 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00116 HGNC ENSG00000175701 tier1 - - 22 0 0.00 27 13 32.50 LINC00242 0 genome.wustl.edu 37 6 170190213 170190213 + RNA SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 170190213 170190213 G A SNP LINC00242 ENST00000437615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00242 HGNC ENSG00000229214 tier1 - - 33 0 0.00 66 7 9.59 LINC00461 0 genome.wustl.edu 37 5 87968912 87968913 + RNA INS - - A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 5 87968912 87968913 - A INS LINC00461 ENST00000505030 human ensembl 74_37 -1 known rna NULL NULL 0.773:0.805 - - - no_errors LINC00461 HGNC ENSG00000245526 tier1 12 0 0.00 22 3 12.00 LINC00661 0 genome.wustl.edu 37 19 16136522 16136523 + RNA INS - - CA TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 16136522 16136523 - CA INS LINC00661 ENST00000549354 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.013 - - - no_errors LINC00661 HGNC ENSG00000205396 tier1 18 0 0.00 45 11 19.64 LOC101927345 0 genome.wustl.edu 37 1 143398949 143398949 + RNA SNP A A T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 143398949 143398949 A T SNP LOC101927345 ENST00000458155 human ensembl 74_37 +1 known rna NULL NULL 0.181 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 28 0 0.00 43 7 14.00 LOC101929232 0 genome.wustl.edu 37 15 29083887 29083887 + RNA DEL A A - TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 15 29083887 29083887 A - DEL LOC101929232 ENST00000563144 human ensembl 74_37 +1 putative rna NULL NULL 0.999 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier1 91 0 0.00 145 34 18.99 LOC730102 0 genome.wustl.edu 37 1 178000792 178000792 + RNA SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 178000792 178000792 G A SNP LOC730102 ENST00000476232 human ensembl 74_37 -1 known rna NULL NULL 0.665 - - - no_errors RP11-568K15.1 Clone_based_vega_gene ENSG00000242193 tier1 - - 37 0 0.00 70 25 26.32 LRFN5 0 genome.wustl.edu 37 14 42356936 42356936 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 14 42356936 42356936 G T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1108 p.V370L 0.995 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 31 0 0.00 35 52 59.77 LRRK1 0 genome.wustl.edu 37 15 101591974 101591974 + Silent SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 15 101591974 101591974 G T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.3498 p.P1166 0.000 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 - - 27 0 0.00 28 16 36.36 MAGEB4 0 genome.wustl.edu 37 X 30261127 30261127 + Missense_Mutation SNP T T G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e X 30261127 30261127 T G SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.875 p.V292G 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 tier1 - - 12 0 0.00 24 9 27.27 MAGEC1 0 genome.wustl.edu 37 X 140994796 140994796 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e X 140994796 140994796 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1606 p.L536F 0.505 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 16 0 0.00 35 40 53.33 MAP2 0 genome.wustl.edu 37 2 210594936 210594936 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 210594936 210594936 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.5299 p.H1767Y 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 12 0 0.00 26 9 25.71 MC4R 0 genome.wustl.edu 37 18 58038634 58038634 + Missense_Mutation SNP T T A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 18 58038634 58038634 T A SNP MC4R ENST00000299766 human ensembl 74_37 -1 known missense c.949 p.I317F 1.000 prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 tier1 - - 14 0 0.00 19 22 53.66 MCOLN3 0 genome.wustl.edu 37 1 85499887 85499887 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 85499887 85499887 G T SNP MCOLN3 ENST00000370589 human ensembl 74_37 -1 known missense c.444 p.N148K 0.991 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 tier1 - - 32 0 0.00 63 14 18.18 MLX 0 genome.wustl.edu 37 17 40720545 40720545 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 17 40720545 40720545 G T SNP MLX ENST00000246912 human ensembl 74_37 +1 known missense c.299 p.G100V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLX HGNC ENSG00000108788 tier1 - - 29 0 0.00 55 21 27.63 MRPL38 0 genome.wustl.edu 37 17 73895597 73895597 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 17 73895597 73895597 C T SNP MRPL38 ENST00000309352 human ensembl 74_37 -1 known missense c.869 p.C290Y 1.000 superfamily_PtdEtn-bd_prot_PEBP pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors MRPL38 HGNC ENSG00000204316 tier1 - - 26 0 0.00 25 13 34.21 MUC16 0 genome.wustl.edu 37 19 9050193 9050193 + Missense_Mutation SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 9050193 9050193 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.31438 p.K10480E 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 18 0 0.00 35 8 18.60 MUC16 0 genome.wustl.edu 37 19 9065422 9065423 + Frame_Shift_Ins INS - - A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 9065422 9065423 - A INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.22024_22023 p.T7341fs 0.000:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 26 0 0.00 41 28 40.58 MUC4 0 genome.wustl.edu 37 3 195513906 195513906 + Silent SNP T T G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 195513906 195513906 T G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.4545 p.T1515 0.001 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 rs200485723 - 15 0 0.00 18 6 25.00 MZT2B 0 genome.wustl.edu 37 2 130948069 130948069 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 130948069 130948069 G T SNP MZT2B ENST00000281871 human ensembl 74_37 +1 known missense c.347 p.G116V 0.322 NULL NULL - no_errors MZT2B HGNC ENSG00000152082 tier1 - - 37 0 0.00 59 8 11.94 NAF1 0 genome.wustl.edu 37 4 164061390 164061390 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 4 164061390 164061390 G T SNP NAF1 ENST00000274054 human ensembl 74_37 -1 known missense c.863 p.T288K 1.000 pfam_H/ACA_rnp_Gar1/Naf1 pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel - no_errors NAF1 HGNC ENSG00000145414 tier1 - - 38 0 0.00 68 5 6.85 NBEA 0 genome.wustl.edu 37 13 35926358 35926358 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 13 35926358 35926358 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6077 p.S2026I 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 27 0 0.00 19 3 13.64 NLRC5 0 genome.wustl.edu 37 16 57074572 57074572 + Missense_Mutation SNP C C A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 16 57074572 57074572 C A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.2881 p.L961I 0.010 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 - - 14 0 0.00 31 6 16.22 OR11H1 0 genome.wustl.edu 37 22 16449141 16449141 + Missense_Mutation SNP T T A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 22 16449141 16449141 T A SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known missense c.664 p.I222F 0.122 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 tier1 - - 23 0 0.00 45 12 21.05 OR51L1 0 genome.wustl.edu 37 11 5020730 5020730 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 11 5020730 5020730 G A SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known missense c.518 p.G173D 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51L1 HGNC ENSG00000176798 tier1 - - 10 0 0.00 20 11 35.48 OR7E14P 0 genome.wustl.edu 37 11 17073832 17073832 + RNA SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 11 17073832 17073832 G A SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors OR7E14P HGNC ENSG00000184669 tier1 - - 26 0 0.00 54 9 14.29 OR7E14P 0 genome.wustl.edu 37 11 17073884 17073884 + RNA SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 11 17073884 17073884 G A SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors OR7E14P HGNC ENSG00000184669 tier1 - - 40 0 0.00 55 9 14.06 PARP12 0 genome.wustl.edu 37 7 139746766 139746766 + Nonsense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 7 139746766 139746766 G A SNP PARP12 ENST00000263549 human ensembl 74_37 -1 known nonsense c.904 p.Q302* 1.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 tier1 - - 41 0 0.00 65 4 5.80 PARP3 0 genome.wustl.edu 37 3 51976714 51976714 + Silent SNP G G C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 51976714 51976714 G C SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known silent c.9 p.L3 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 tier1 - - 15 0 0.00 15 8 34.78 PCDH9 0 genome.wustl.edu 37 13 67802560 67802560 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 13 67802560 67802560 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.13 p.D5N 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 33 0 0.00 41 17 29.31 PDK3 0 genome.wustl.edu 37 X 24517162 24517162 + RNA DEL T T - TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e X 24517162 24517162 T - DEL PDK3 ENST00000493226 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors PDK3 HGNC ENSG00000067992 tier1 21 0 0.00 35 4 10.26 PIN1P1 0 genome.wustl.edu 37 1 70385205 70385205 + RNA SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 70385205 70385205 C T SNP PIN1P1 ENST00000412108 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors PIN1P1 HGNC ENSG00000229359 tier1 - - 29 0 0.00 61 13 17.57 PITX2 0 genome.wustl.edu 37 4 111539588 111539588 + Missense_Mutation SNP G G C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 4 111539588 111539588 G C SNP PITX2 ENST00000306732 human ensembl 74_37 -1 known missense c.668 p.S223C 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 tier1 - - 21 0 0.00 25 27 51.92 PNISR 0 genome.wustl.edu 37 6 99860264 99860264 + RNA SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 99860264 99860264 T C SNP PNISR ENST00000466057 human ensembl 74_37 -1 known rna NULL NULL 0.983 - - - no_errors PNISR HGNC ENSG00000132424 tier1 - - 30 0 0.00 59 16 21.33 POLB 0 genome.wustl.edu 37 8 42214742 42214742 + Splice_Site SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 8 42214742 42214742 G T SNP POLB ENST00000265421 human ensembl 74_37 +1 known splice_site c.477+1 e8+1 1.000 - - - no_errors POLB HGNC ENSG00000070501 tier1 - - 47 0 0.00 76 4 5.00 PRICKLE1 0 genome.wustl.edu 37 12 42860064 42860064 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 42860064 42860064 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.707 p.R236H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 tier1 - - 24 0 0.00 42 18 30.00 PRKAB2 0 genome.wustl.edu 37 1 146633344 146633344 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 146633344 146633344 G A SNP PRKAB2 ENST00000254101 human ensembl 74_37 -1 known missense c.688 p.L230F 1.000 pfam_AMP_prot_kin_bsu_interact-dom pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB2 HGNC ENSG00000131791 tier1 - - 60 0 0.00 75 53 41.41 PRKAR2B 0 genome.wustl.edu 37 7 106797765 106797765 + Frame_Shift_Del DEL T T - TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 7 106797765 106797765 T - DEL PRKAR2B ENST00000265717 human ensembl 74_37 +1 known frame_shift_del c.1119 p.L374fs 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 tier1 19 0 0.00 52 12 18.75 PRR3 0 genome.wustl.edu 37 6 30530332 30530332 + RNA SNP C C A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 30530332 30530332 C A SNP PRR3 ENST00000481741 human ensembl 74_37 +1 known rna NULL NULL 0.156 - - - no_errors PRR3 HGNC ENSG00000204576 tier1 - - 15 0 0.00 25 13 34.21 PTPN9 0 genome.wustl.edu 37 15 75763081 75763081 + Missense_Mutation SNP A A T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 15 75763081 75763081 A T SNP PTPN9 ENST00000306726 human ensembl 74_37 -1 known missense c.1299 p.N433K 0.995 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 tier1 - - 45 0 0.00 70 13 15.66 RGPD1 0 genome.wustl.edu 37 2 87201286 87201286 + Missense_Mutation SNP A A C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 87201286 87201286 A C SNP RGPD1 ENST00000398193 human ensembl 74_37 +1 known missense c.1364 p.K455T 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR_1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD1 HGNC ENSG00000187627 tier1 - - 35 0 0.00 78 9 10.34 SCARNA9 0 genome.wustl.edu 37 11 93454832 93454835 + RNA DEL GTGT GTGT - TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 11 93454832 93454835 GTGT - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.008:0.006:0.000 - - - no_errors SCARNA9 HGNC ENSG00000254911 tier1 17 0 0.00 26 4 13.33 SEC24B 0 genome.wustl.edu 37 4 110384393 110384393 + Missense_Mutation SNP A A T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 4 110384393 110384393 A T SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.470 p.N157I 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 tier1 - - 13 0 0.00 11 12 52.17 SEMA3C 0 genome.wustl.edu 37 7 80427447 80427447 + Silent SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 7 80427447 80427447 A G SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known silent c.1146 p.I382 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 tier1 - - 35 0 0.00 56 46 45.10 SHANK1 0 genome.wustl.edu 37 19 51189602 51189602 + Silent SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 51189602 51189602 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.2493 p.D831 0.998 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 17 0 0.00 22 10 31.25 SLC22A1 0 genome.wustl.edu 37 6 160577066 160577066 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 160577066 160577066 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known missense c.1558 p.A520T 0.001 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 tier1 - - 25 0 0.00 47 21 30.88 SLC38A8 0 genome.wustl.edu 37 16 84070482 84070482 + Silent SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 16 84070482 84070482 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known silent c.213 p.S71 0.532 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 tier1 rs149748570 - 38 0 0.00 49 19 27.94 SLC44A1 0 genome.wustl.edu 37 9 108147756 108147756 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 9 108147756 108147756 C T SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known silent c.1923 p.V641 0.135 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 tier1 rs151307942 - 18 0 0.00 25 36 59.02 SLITRK3 0 genome.wustl.edu 37 3 164906571 164906571 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 3 164906571 164906571 C T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.2048 p.R683Q 0.961 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 9 0 0.00 25 22 46.81 SNED1 0 genome.wustl.edu 37 2 242003535 242003535 + Nonsense_Mutation SNP C C A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 242003535 242003535 C A SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known nonsense c.2592 p.C864* 0.910 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 16 0 0.00 34 16 32.00 SRSF11 0 genome.wustl.edu 37 1 70716908 70716908 + RNA SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 70716908 70716908 A G SNP SRSF11 ENST00000461935 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF11 HGNC ENSG00000116754 tier1 - - 16 0 0.00 37 15 28.85 STOML2 0 genome.wustl.edu 37 9 35101143 35101143 + Missense_Mutation SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 9 35101143 35101143 T C SNP STOML2 ENST00000356493 human ensembl 74_37 -1 known missense c.713 p.N238S 1.000 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 tier1 - - 20 0 0.00 14 6 30.00 TADA1 0 genome.wustl.edu 37 1 166825867 166825867 + RNA SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 166825867 166825867 A G SNP TADA1 ENST00000467021 human ensembl 74_37 -1 known rna NULL NULL 0.144 - - - no_errors TADA1 HGNC ENSG00000152382 tier1 - - 30 0 0.00 46 24 34.29 TAS2R50 0 genome.wustl.edu 37 12 11138694 11138694 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 11138694 11138694 G A SNP TAS2R50 ENST00000506868 human ensembl 74_37 -1 known missense c.766 p.R256W 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 tier1 - - 24 0 0.00 44 10 18.52 TBX4 0 genome.wustl.edu 37 17 59560599 59560599 + Missense_Mutation SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 17 59560599 59560599 C T SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known missense c.1363 p.R455W 0.998 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 tier1 - - 14 0 0.00 10 10 50.00 TERT 0 genome.wustl.edu 37 5 1272327 1272327 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 5 1272327 1272327 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.2355 p.P785 0.000 pfam_RVT,pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 19 0 0.00 54 22 28.95 TMEM182 0 genome.wustl.edu 37 2 103378750 103378750 + Missense_Mutation SNP T T G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 103378750 103378750 T G SNP TMEM182 ENST00000412401 human ensembl 74_37 +1 known missense c.74 p.F25C 1.000 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 tier1 - - 19 0 0.00 35 31 46.97 TNFSF12 0 genome.wustl.edu 37 17 7456910 7456910 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 17 7456910 7456910 G T SNP TNFSF12 ENST00000322272 human ensembl 74_37 +1 known missense c.380 p.G127V 0.000 NULL NULL - no_errors TNFSF12 HGNC ENSG00000239697 tier1 - - 35 0 0.00 65 4 5.80 TRPC4 0 genome.wustl.edu 37 13 38211399 38211399 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 13 38211399 38211399 G T SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.2590 p.Q864K 0.848 NULL pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 35 0 0.00 28 21 42.86 TRPM4 0 genome.wustl.edu 37 19 49693513 49693513 + Missense_Mutation SNP A A T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 49693513 49693513 A T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.2068 p.I690F 0.162 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 18 0 0.00 37 7 15.91 TTN 0 genome.wustl.edu 37 2 179456788 179456788 + Missense_Mutation SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 179456788 179456788 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.52139 p.L17380P 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 17 0 0.00 58 15 20.55 TTN 0 genome.wustl.edu 37 2 179482140 179482140 + Missense_Mutation SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 179482140 179482140 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39968 p.I13323T 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 9 0 0.00 27 8 22.86 UBE2D3 0 genome.wustl.edu 37 4 103747741 103747741 + RNA SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 4 103747741 103747741 G T SNP UBE2D3 ENST00000513098 human ensembl 74_37 -1 known rna NULL NULL 0.905 - - - no_errors UBE2D3 HGNC ENSG00000109332 tier1 - - 9 0 0.00 16 4 20.00 UBE3D 0 genome.wustl.edu 37 6 83732251 83732251 + Missense_Mutation SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 83732251 83732251 T C SNP UBE3D ENST00000369747 human ensembl 74_37 -1 known missense c.767 p.Q256R 0.997 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 tier1 - - 23 0 0.00 50 21 29.58 USP24 0 genome.wustl.edu 37 1 55595244 55595244 + Silent SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 55595244 55595244 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known silent c.3061 p.L1021 0.996 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 38 0 0.00 46 8 14.81 VAPA 0 genome.wustl.edu 37 18 9931846 9931846 + Missense_Mutation SNP G G T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 18 9931846 9931846 G T SNP VAPA ENST00000340541 human ensembl 74_37 +1 known missense c.119 p.R40L 1.000 pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPA HGNC ENSG00000101558 tier1 - - 26 0 0.00 44 33 42.86 VPS52 0 genome.wustl.edu 37 6 33218515 33218515 + RNA SNP C C A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 6 33218515 33218515 C A SNP VPS52 ENST00000478934 human ensembl 74_37 -1 known rna NULL NULL 0.045 - - - no_errors VPS52 HGNC ENSG00000223501 tier1 - - 11 0 0.00 22 16 42.11 VPS9D1 0 genome.wustl.edu 37 16 89777128 89777128 + Missense_Mutation SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 16 89777128 89777128 T C SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.1124 p.D375G 0.965 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 tier1 - - 42 0 0.00 57 22 27.85 VWF 0 genome.wustl.edu 37 12 6128145 6128145 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 6128145 6128145 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.4439 p.P1480L 0.432 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 17 0 0.00 40 23 36.51 XIRP2 0 genome.wustl.edu 37 2 168107984 168107984 + Missense_Mutation SNP A A C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 2 168107984 168107984 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10082 p.N3361T 0.010 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 11 0 0.00 32 6 15.79 ZBTB46 0 genome.wustl.edu 37 20 62421604 62421604 + Silent SNP C C T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 20 62421604 62421604 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.507 p.P169 0.137 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 tier1 - - 8 0 0.00 14 5 26.32 ZFC3H1 0 genome.wustl.edu 37 12 72024395 72024395 + Missense_Mutation SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 72024395 72024395 T C SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.3709 p.I1237V 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 tier1 - - 32 0 0.00 59 27 31.40 ZMYND12 0 genome.wustl.edu 37 1 42921632 42921632 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 1 42921632 42921632 G A SNP ZMYND12 ENST00000372565 human ensembl 74_37 -1 known missense c.37 p.R13C 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND12 HGNC ENSG00000066185 tier1 - - 12 0 0.00 22 10 31.25 ZNF160 0 genome.wustl.edu 37 19 53571447 53571448 + Frame_Shift_Ins INS - - A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 53571447 53571448 - A INS ZNF160 ENST00000418871 human ensembl 74_37 -1 known frame_shift_ins c.2340_2339 p.M780fs 0.000:0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 tier1 39 0 0.00 65 17 20.73 ZNF268 0 genome.wustl.edu 37 12 133780251 133780251 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 12 133780251 133780251 G A SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.1979 p.G660E 0.775 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF268 HGNC ENSG00000090612 tier1 - - 19 0 0.00 42 9 17.65 ZNF460 0 genome.wustl.edu 37 19 57802649 57802649 + Missense_Mutation SNP A A T TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 57802649 57802649 A T SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.740 p.N247I 0.952 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 - - 18 0 0.00 20 18 47.37 ZNF587 0 genome.wustl.edu 37 19 58371221 58371221 + Missense_Mutation SNP A A G TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 19 58371221 58371221 A G SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known missense c.1441 p.I481V 0.000 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 ZNF587 HGNC ENSG00000198466 tier1 - - 28 0 0.00 49 36 42.35 ZNF70 0 genome.wustl.edu 37 22 24086011 24086011 + Missense_Mutation SNP C C A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 22 24086011 24086011 C A SNP ZNF70 ENST00000341976 human ensembl 74_37 -1 known missense c.1317 p.K439N 0.902 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 tier1 - - 20 0 0.00 25 9 26.47 ZWILCH 0 genome.wustl.edu 37 15 66821208 66821208 + Missense_Mutation SNP G G A TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 442b99f1-cb13-4dfa-a95a-43b5dac87be9 2571d3c1-c102-40f2-9dbc-875797c2268e 15 66821208 66821208 G A SNP ZWILCH ENST00000307897 human ensembl 74_37 +1 known missense c.988 p.A330T 0.686 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 tier1 - - 8 0 0.00 30 8 20.51