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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SLC39A5 0 genome.wustl.edu 37 12 56625110 56625110 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 12 56625110 56625110 G A SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known missense c.52 p.V18I 0.011 NULL pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 tier1 - - 63 0 0.00 64 7 9.86 67 0 0.00 50 11 18.03 AQP6 0 genome.wustl.edu 37 12 50367325 50367325 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 12 50367325 50367325 G A SNP AQP6 ENST00000315520 human ensembl 74_37 +1 known silent c.369 p.P123 0.001 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_6,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_6,tigrfam_MIP - no_errors AQP6 HGNC ENSG00000086159 tier1 rs150838227 - 167 0 0.00 97 42 30.22 62 0 0.00 38 8 17.39 ATRX 0 genome.wustl.edu 37 X 76875920 76875920 + Nonsense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a X 76875920 76875920 G A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.5215 p.R1739* 0.998 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 50 0 0.00 46 32 41.03 64 0 0.00 37 30 44.78 TMEM52B 0 genome.wustl.edu 37 12 10339077 10339077 + Missense_Mutation SNP C C G TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 12 10339077 10339077 C G SNP TMEM52B ENST00000381923 human ensembl 74_37 +1 known missense c.196 p.R66G 1.000 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 tier1 - - 44 0 0.00 32 8 20.00 55 0 0.00 39 8 17.02 ERVMER61-1 0 genome.wustl.edu 37 1 187611080 187611080 + R SNP T T G TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 187611080 187611080 T G SNP ERVMER61-1 ENST00000429725 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors ERVMER61-1 HGNC ENSG00000230426 tier1 - - 10 0 0.00 11 4 26.67 65 0 0.00 42 5 10.64 SLC6A17 0 genome.wustl.edu 37 1 110714771 110714771 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 110714771 110714771 C T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.376 p.R126C 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 tier1 - - 93 0 0.00 78 25 24.27 32 0 0.00 34 13 27.66 PRKCG 0 genome.wustl.edu 37 19 54403679 54403679 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 54403679 54403679 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known silent c.1380 p.Y460 0.992 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 tier1 - - 55 0 0.00 51 13 20.31 105 0 0.00 75 16 17.20 WDR87 0 genome.wustl.edu 37 19 38380902 38380902 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 38380902 38380902 G A SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.3409 p.R1137W 0.002 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 59 0 0.00 57 18 24.00 94 0 0.00 56 22 28.21 MGAM 0 genome.wustl.edu 37 7 141783107 141783107 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 7 141783107 141783107 C T SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative missense c.6275 p.T2092M 0.997 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 36 0 0.00 39 4 9.30 47 0 0.00 36 11 23.40 ZSCAN1 0 genome.wustl.edu 37 19 58564938 58564938 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 58564938 58564938 G A SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.746 p.R249Q 0.015 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 - - 55 0 0.00 32 8 20.00 94 0 0.00 52 10 16.13 SPINK5 0 genome.wustl.edu 37 5 147499644 147499644 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 5 147499644 147499644 C T SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.2386 p.R796W 0.959 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 tier1 - - 35 0 0.00 29 5 14.71 120 0 0.00 87 19 17.92 TAS1R1 0 genome.wustl.edu 37 1 6635087 6635087 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 6635087 6635087 G A SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known missense c.895 p.A299T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 tier1 - - 32 0 0.00 27 9 25.00 32 0 0.00 37 21 36.21 ELOVL2 0 genome.wustl.edu 37 6 10995345 10995345 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 6 10995345 10995345 C T SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known missense c.400 p.V134I 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 tier1 - - 32 0 0.00 51 8 13.56 140 0 0.00 105 17 13.93 ABT1 0 genome.wustl.edu 37 6 26598573 26598573 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 6 26598573 26598573 G A SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known silent c.519 p.A173 0.188 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 tier1 - - 107 0 0.00 86 23 21.10 44 0 0.00 57 16 21.62 SPRED1 0 genome.wustl.edu 37 15 38641674 38641674 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 15 38641674 38641674 G A SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.634 p.V212I 0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 tier1 - - 43 0 0.00 41 11 21.15 132 0 0.00 83 21 20.19 ENSG00000257743 0 genome.wustl.edu 37 7 141871131 141871131 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 7 141871131 141871131 G A SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.3242 p.R1081H 0.948 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 119 0 0.00 120 18 13.04 78 0 0.00 57 10 14.93 SPHK2 0 genome.wustl.edu 37 19 49129289 49129289 + Nonsense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 49129289 49129289 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known nonsense c.367 p.R123* 0.058 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 - - 34 0 0.00 29 8 21.62 23 0 0.00 11 4 26.67 CASQ2 0 genome.wustl.edu 37 1 116247891 116247891 + Silent SNP G G T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 116247891 116247891 G T SNP CASQ2 ENST00000261448 human ensembl 74_37 -1 known silent c.861 p.I287 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 tier1 rs143718767 - 56 0 0.00 45 16 26.23 129 0 0.00 94 19 16.81 MYO15A 0 genome.wustl.edu 37 17 18023186 18023186 + Missense_Mutation SNP C C A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 17 18023186 18023186 C A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.1072 p.L358I 0.759 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 59 0 0.00 62 10 13.89 118 0 0.00 110 13 10.57 MLLT6 0 genome.wustl.edu 37 17 36883244 36883244 + R SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 17 36883244 36883244 C T SNP MLLT6 ENST00000582830 human ensembl 74_37 +1 putative rna NULL NULL 0.075 - - - no_errors MLLT6 HGNC ENSG00000108292 tier1 - - 73 0 0.00 39 9 18.75 71 0 0.00 56 13 18.84 CCDC63 0 genome.wustl.edu 37 12 111322003 111322003 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 12 111322003 111322003 G A SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known silent c.1023 p.T341 0.777 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 tier1 - - 62 0 0.00 45 5 10.00 126 0 0.00 91 12 11.54 FPGT 0 genome.wustl.edu 37 1 74670983 74670983 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 74670983 74670983 G A SNP FPGT ENST00000370898 human ensembl 74_37 +1 known missense c.1291 p.V431I 1.000 pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 tier1 - - 68 0 0.00 62 24 27.91 117 0 0.00 62 29 31.87 CAC1E 0 genome.wustl.edu 37 1 181727998 181727998 + Silent SNP C C A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 181727998 181727998 C A SNP CAC1E ENST00000367573 human ensembl 74_37 +1 known silent c.4599 p.G1533 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CAC1E HGNC ENSG00000198216 tier1 - - 164 0 0.00 160 19 10.61 142 0 0.00 99 12 10.81 HTT 0 genome.wustl.edu 37 4 3215720 3215720 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 4 3215720 3215720 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.6810 p.P2270 0.508 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 45 0 0.00 36 13 26.53 73 0 0.00 63 19 23.17 GPR151 0 genome.wustl.edu 37 5 145894881 145894881 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 5 145894881 145894881 C T SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known missense c.796 p.E266K 0.894 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 tier1 - - 30 0 0.00 27 11 28.95 50 0 0.00 61 12 16.44 HPN 0 genome.wustl.edu 37 19 35550828 35550828 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 35550828 35550828 C T SNP HPN ENST00000262626 human ensembl 74_37 +1 known missense c.341 p.T114M 0.995 pfam_Hepsin-SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 tier1 - - 42 0 0.00 30 12 28.57 19 0 0.00 14 6 30.00 CIT 0 genome.wustl.edu 37 12 120172048 120172048 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 12 120172048 120172048 C T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.3145 p.V1049I 0.981 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 tier1 rs200184645 GMAF=0.0005 86 0 0.00 77 11 12.50 70 0 0.00 29 5 14.71 CACNG6 0 genome.wustl.edu 37 19 54515432 54515432 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 54515432 54515432 C T SNP CACNG6 ENST00000252729 human ensembl 74_37 +1 known missense c.772 p.R258W 0.000 NULL prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 tier1 - - 44 0 0.00 52 5 8.77 22 0 0.00 17 2 10.53 SPEF2 0 genome.wustl.edu 37 5 35793303 35793303 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 5 35793303 35793303 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.4597 p.V1533M 0.988 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 rs200747497 - 23 0 0.00 42 14 25.00 141 0 0.00 163 45 21.63 SV2B 0 genome.wustl.edu 37 15 91827281 91827281 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 15 91827281 91827281 G A SNP SV2B ENST00000330276 human ensembl 74_37 +1 known missense c.1538 p.R513Q 0.897 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 tier1 - - 41 0 0.00 45 6 11.54 63 1 1.56 59 7 10.61 SIGLEC12 0 genome.wustl.edu 37 19 52002731 52002731 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 52002731 52002731 C T SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.1048 p.G350S 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 tier1 - - 60 0 0.00 55 5 8.33 30 0 0.00 39 6 13.33 TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 17 7577570 7577570 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.711 p.M237I 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 105 0 0.00 66 57 46.34 82 1 1.19 50 45 46.88 KNDC1 0 genome.wustl.edu 37 10 134981792 134981792 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 10 134981792 134981792 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.336 p.F112 0.987 superfamily_Kinase-like_dom,smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 103 0 0.00 55 25 31.25 116 0 0.00 80 22 21.57 CXorf30 0 genome.wustl.edu 37 X 36329023 36329023 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a X 36329023 36329023 C T SNP CXorf30 ENST00000378657 human ensembl 74_37 +1 known missense c.601 p.R201C 0.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 tier1 - - 24 0 0.00 31 11 26.19 80 0 0.00 52 16 23.53 MIR202 0 genome.wustl.edu 37 10 135061123 135061123 + R SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 10 135061123 135061123 C T SNP MIR202 ENST00000300167 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR202 HGNC ENSG00000166917 tier1 - - 100 0 0.00 67 22 23.66 73 0 0.00 57 21 26.92 OR8H1 0 genome.wustl.edu 37 11 56057792 56057792 + Silent SNP G G T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 11 56057792 56057792 G T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.747 p.I249 0.089 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 OR8H1 HGNC ENSG00000181693 tier1 - - 42 0 0.00 48 13 21.31 55 0 0.00 47 15 24.19 KRT6C 0 genome.wustl.edu 37 12 52867478 52867478 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 12 52867478 52867478 C T SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.44 p.R15H 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 tier1 rs142765056 - 100 0 0.00 72 31 30.10 34 0 0.00 22 7 24.14 KDM5C 0 genome.wustl.edu 37 X 53246347 53246347 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a X 53246347 53246347 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.635 p.R212Q 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_D-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_D-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_D-bd - no_errors KDM5C HGNC ENSG00000126012 tier1 - - 19 0 0.00 10 14 58.33 39 0 0.00 24 14 36.84 GPT2 0 genome.wustl.edu 37 16 46943614 46943614 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 16 46943614 46943614 G A SNP GPT2 ENST00000340124 human ensembl 74_37 +1 known missense c.595 p.V199I 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT2 HGNC ENSG00000166123 tier1 - - 75 0 0.00 101 25 19.84 119 0 0.00 124 42 25.30 SPTBN4 0 genome.wustl.edu 37 19 41025405 41025405 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 41025405 41025405 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.3001 p.A1001T 0.990 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 86 0 0.00 50 9 15.25 18 0 0.00 12 4 25.00 OR7G2 0 genome.wustl.edu 37 19 9213641 9213641 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 9213641 9213641 C T SNP OR7G2 ENST00000305456 human ensembl 74_37 -1 known silent c.342 p.T114 0.000 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 OR7G2 HGNC ENSG00000170923 tier1 - - 80 0 0.00 76 23 23.23 85 0 0.00 73 31 29.81 WDFY4 0 genome.wustl.edu 37 10 49944117 49944117 + Splice_Site SNP T T A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 10 49944117 49944117 T A SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known splice_site c.1878+2 e10+2 0.999 - - - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 44 0 0.00 38 11 22.45 55 0 0.00 62 7 10.14 SCAF1 0 genome.wustl.edu 37 19 50150007 50150007 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 50150007 50150007 G A SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.398 p.R133Q 0.909 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 tier1 - - 40 0 0.00 44 7 13.73 64 0 0.00 37 8 17.78 PEG3 0 genome.wustl.edu 37 19 57329980 57329980 + Missense_Mutation SNP G G T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 57329980 57329980 G T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.760 p.L254M 1.000 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 - - 109 0 0.00 96 11 10.28 89 0 0.00 85 10 10.53 KRT35 0 genome.wustl.edu 37 17 39635725 39635725 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 17 39635725 39635725 C T SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known silent c.585 p.L195 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 tier1 - - 74 0 0.00 64 10 13.51 31 0 0.00 18 2 10.00 RBBP8NL 0 genome.wustl.edu 37 20 60987919 60987919 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 20 60987919 60987919 G A SNP RBBP8NL ENST00000252998 human ensembl 74_37 -1 known silent c.1713 p.D571 0.000 NULL pfam_CtIP_N - no_errors RBBP8NL HGNC ENSG00000130701 tier1 - - 134 0 0.00 81 34 29.57 42 0 0.00 24 13 34.21 NOTCH4 0 genome.wustl.edu 37 6 32188188 32188188 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 6 32188188 32188188 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.1153 p.R385C 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 99 0 0.00 80 22 21.57 100 0 0.00 91 19 17.27 OR8H2 0 genome.wustl.edu 37 11 55872648 55872648 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 11 55872648 55872648 G A SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.130 p.V44M 0.003 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 OR8H2 HGNC ENSG00000181767 tier1 - - 93 0 0.00 89 17 15.89 50 0 0.00 43 23 34.85 ENSG00000237452 0 genome.wustl.edu 37 19 46257882 46257882 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 46257882 46257882 G A SNP ENSG00000237452 ENST00000457052 human ensembl 74_37 +1 putative silent c.702 p.P234 0.002 NULL pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier1 - - 45 0 0.00 45 8 15.09 45 0 0.00 46 12 20.69 ITGB2 0 genome.wustl.edu 37 21 46323418 46323418 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 21 46323418 46323418 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.361 p.R121W 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 tier1 - - 66 0 0.00 88 18 16.98 79 0 0.00 57 9 13.64 TBC1D12 0 genome.wustl.edu 37 10 96282101 96282101 + Missense_Mutation SNP A A T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 10 96282101 96282101 A T SNP TBC1D12 ENST00000225235 human ensembl 74_37 +1 known missense c.1891 p.M631L 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 tier1 - - 29 0 0.00 33 4 10.81 100 0 0.00 50 10 16.67 TUB 0 genome.wustl.edu 37 11 8123044 8123044 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 11 8123044 8123044 G A SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.1564 p.V522M 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 tier1 - - 129 0 0.00 108 13 10.74 96 0 0.00 79 9 10.23 ZNF85 0 genome.wustl.edu 37 19 21132245 21132245 + Missense_Mutation SNP A A G TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 21132245 21132245 A G SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.925 p.T309A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 tier1 - - 18 0 0.00 17 14 45.16 20 0 0.00 17 12 41.38 GBGT1 0 genome.wustl.edu 37 9 136030486 136030486 + R SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 9 136030486 136030486 G A SNP GBGT1 ENST00000470431 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GBGT1 HGNC ENSG00000148288 tier1 - - 74 0 0.00 56 14 20.00 69 0 0.00 66 18 21.18 PCDH1 0 genome.wustl.edu 37 5 141248661 141248661 + Missense_Mutation SNP G G T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 5 141248661 141248661 G T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.376 p.Q126K 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 - - 39 0 0.00 23 8 25.81 71 0 0.00 59 9 13.24 ARHGAP21 0 genome.wustl.edu 37 10 24874948 24874948 + Missense_Mutation SNP G G T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 10 24874948 24874948 G T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.4270 p.P1424T 0.795 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 82 0 0.00 74 8 9.76 40 0 0.00 32 6 15.79 MICAL2 0 genome.wustl.edu 37 11 12231105 12231105 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 11 12231105 12231105 C T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known silent c.651 p.D217 0.995 prints_Rng_hydrolase-like 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 tier1 - - 48 0 0.00 44 4 8.33 94 0 0.00 84 10 10.64 TECTA 0 genome.wustl.edu 37 11 120989346 120989346 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 11 120989346 120989346 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.1122 p.A374 0.012 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 58 0 0.00 40 6 13.04 106 0 0.00 63 9 12.50 LOC100996415 0 genome.wustl.edu 37 22 20341941 20341941 + R SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 22 20341941 20341941 C T SNP LOC100996415 ENST00000454636 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene ENSG00000188424 tier1 - - 127 0 0.00 110 27 19.71 19 0 0.00 10 2 16.67 FAM135B 0 genome.wustl.edu 37 8 139268947 139268947 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 8 139268947 139268947 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.353 p.T118M 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 32 0 0.00 18 5 21.74 120 0 0.00 56 23 29.11 HDAC6 0 genome.wustl.edu 37 X 48678568 48678568 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a X 48678568 48678568 C T SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.2285 p.P762L 0.999 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 tier1 - - 55 0 0.00 46 7 13.21 18 0 0.00 13 5 27.78 EPYC 0 genome.wustl.edu 37 12 91363850 91363850 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 12 91363850 91363850 G A SNP EPYC ENST00000261172 human ensembl 74_37 -1 known missense c.769 p.P257S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 tier1 - - 91 0 0.00 102 18 15.00 101 0 0.00 103 26 20.00 SLC16A5 0 genome.wustl.edu 37 17 73096768 73096768 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 17 73096768 73096768 C T SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known missense c.1010 p.A337V 0.959 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 tier1 - - 50 0 0.00 39 13 25.00 59 0 0.00 53 18 25.35 RSAD1 0 genome.wustl.edu 37 17 48562112 48562112 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 17 48562112 48562112 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known missense c.1219 p.R407W 1.000 pfam_HemN_C_dom pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 tier1 - - 89 0 0.00 95 11 10.38 99 0 0.00 70 12 14.63 JAKMIP1 0 genome.wustl.edu 37 4 6082016 6082016 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 4 6082016 6082016 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.1125 p.A375 0.048 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 rs150623866 - 59 0 0.00 46 15 24.59 43 0 0.00 26 4 13.33 LPCAT4 0 genome.wustl.edu 37 15 34651485 34651489 + Frame_Shift_Del DEL GAGAA GAGAA - TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 GAGAA GAGAA GAGAA - GAGAA GAGAA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 15 34651485 34651489 GAGAA - DEL LPCAT4 ENST00000314891 human ensembl 74_37 -1 known frame_shift_del c.1418_1414 p.F472fs 1.000:1.000:1.000:1.000:1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 tier1 104 0 0.00 91 15 14.15 104 0 0.00 91 15 14.15 CAC1F 0 genome.wustl.edu 37 X 49074970 49074970 + Nonsense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a X 49074970 49074970 G A SNP CAC1F ENST00000376265 human ensembl 74_37 -1 known nonsense c.2905 p.R969* 0.989 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1F HGNC ENSG00000102001 tier1 rs122456134 - 43 0 0.00 21 23 52.27 15 0 0.00 3 3 50.00 LINC00917 0 genome.wustl.edu 37 16 86371004 86371004 + R SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 16 86371004 86371004 G A SNP LINC00917 ENST00000304488 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00917 HGNC ENSG00000168367 tier1 - - 48 0 0.00 61 15 19.74 20 0 0.00 7 5 41.67 SCN3A 0 genome.wustl.edu 37 2 166011012 166011012 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 2 166011012 166011012 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.1330 p.E444K 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 77 0 0.00 51 29 36.25 13 0 0.00 8 4 33.33 LINC00905 0 genome.wustl.edu 37 19 16145008 16145008 + R SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 16145008 16145008 G A SNP LINC00905 ENST00000588838 human ensembl 74_37 +1 known rna NULL NULL 0.954 - - - no_errors LINC00905 HGNC ENSG00000167459 tier1 - - 73 0 0.00 60 6 9.09 77 0 0.00 101 7 6.48 CEP350 0 genome.wustl.edu 37 1 179983057 179983057 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 179983057 179983057 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.1469 p.R490H 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 44 0 0.00 44 4 8.33 106 0 0.00 99 7 6.60 RP1 0 genome.wustl.edu 37 8 55534123 55534123 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 8 55534123 55534123 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.597 p.Y199 0.762 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 44 0 0.00 38 6 13.64 71 0 0.00 39 4 9.30 SEMA6D 0 genome.wustl.edu 37 15 48057167 48057167 + Missense_Mutation SNP G G T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 15 48057167 48057167 G T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.1341 p.M447I 0.849 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 57 0 0.00 49 10 16.95 118 0 0.00 72 7 8.86 NSUN6 0 genome.wustl.edu 37 10 18874941 18874941 + Missense_Mutation SNP T T A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 10 18874941 18874941 T A SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known missense c.859 p.I287F 1.000 pfam_Fmu/NOL1/Nop2p,pfam_rR_MeTrfase_FtsJ_dom pfam_Fmu/NOL1/Nop2p,pfam_rR_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 tier1 - - 42 0 0.00 45 5 10.00 149 0 0.00 101 9 8.11 C1orf61 0 genome.wustl.edu 37 1 156377337 156377337 + R SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 156377337 156377337 C T SNP C1orf61 ENST00000488498 human ensembl 74_37 -1 known rna NULL NULL 0.946 - - - no_errors C1orf61 HGNC ENSG00000125462 tier1 - - 43 0 0.00 44 10 18.52 98 0 0.00 54 5 8.47 RASAL2 0 genome.wustl.edu 37 1 178427542 178427542 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 178427542 178427542 G A SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.3115 p.G1039R 0.994 pfam_DUF3498 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 - - 59 0 0.00 50 9 15.25 101 0 0.00 63 4 5.97 LRRK1 0 genome.wustl.edu 37 15 101605774 101605774 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 15 101605774 101605774 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.5132 p.P1711L 1.000 superfamily_WD40_repeat_dom 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 - - 29 0 0.00 22 4 15.38 76 0 0.00 77 4 4.94 QTRTD1 0 genome.wustl.edu 37 3 113804664 113804664 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 3 113804664 113804664 C T SNP QTRTD1 ENST00000281273 human ensembl 74_37 +1 known silent c.1161 p.Y387 0.995 pfam_tR_ribo_trans-like,superfamily_tR_ribo_trans-like,tigrfam_tR_ribo_trans-like pfam_tR_ribo_trans-like,superfamily_tR_ribo_trans-like,tigrfam_tR_ribo_trans-like - no_errors QTRTD1 HGNC ENSG00000151576 tier1 - - 124 0 0.00 115 13 10.16 107 0 0.00 84 9 9.68 ASPG 0 genome.wustl.edu 37 14 104565230 104565230 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 14 104565230 104565230 G A SNP ASPG ENST00000455920 human ensembl 74_37 +1 known missense c.554 p.R185Q 0.994 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 tier1 - - 105 0 0.00 115 11 8.73 76 1 1.30 62 5 7.46 ERAP2 0 genome.wustl.edu 37 5 96215697 96215697 + Missense_Mutation SNP A A G TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 5 96215697 96215697 A G SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known missense c.308 p.N103S 0.102 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 tier1 - - 52 0 0.00 52 5 8.77 63 0 0.00 66 5 7.04 ENSG00000254553 0 genome.wustl.edu 37 1 32950780 32950780 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 32950780 32950780 C T SNP ENSG00000254553 ENST00000480336 human ensembl 74_37 +1 known missense c.1249 p.R417C 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors RP1-27O5.3 Clone_based_vega_gene ENSG00000254553 tier1 - - 50 0 0.00 63 6 8.70 42 0 0.00 48 5 9.43 TAF6L 0 genome.wustl.edu 37 11 62553797 62553797 + Missense_Mutation SNP T T A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 11 62553797 62553797 T A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.1026 p.D342E 0.957 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 tier1 - - 42 0 0.00 49 6 10.91 120 0 0.00 102 5 4.67 TMEFF1 0 genome.wustl.edu 37 9 103261070 103261070 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 9 103261070 103261070 G A SNP TMEFF1 ENST00000374879 human ensembl 74_37 +1 known missense c.220 p.V74I 0.945 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF1 HGNC ENSG00000241697 tier1 - - 37 0 0.00 65 6 8.45 93 0 0.00 85 6 6.59 SLC32A1 0 genome.wustl.edu 37 20 37356570 37356570 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 20 37356570 37356570 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.866 p.A289V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 tier1 - - 56 0 0.00 66 6 8.33 107 0 0.00 86 7 7.53 PIWIL2 0 genome.wustl.edu 37 8 22172555 22172555 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 8 22172555 22172555 G A SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.2105 p.R702Q 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 tier1 - - 86 0 0.00 79 8 9.20 107 0 0.00 125 11 8.09 GSK3A 0 genome.wustl.edu 37 19 42744317 42744317 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 42744317 42744317 G A SNP GSK3A ENST00000398249 human ensembl 74_37 -1 novel silent c.15 p.I5 0.000 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 GSK3A HGNC ENSG00000105723 tier1 - - 90 0 0.00 82 9 9.89 86 0 0.00 71 6 7.79 LOXHD1 0 genome.wustl.edu 37 18 44102227 44102227 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 18 44102227 44102227 G A SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.4922 p.A1641V 0.727 superfamily_Lipase_LipOase pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 36 0 0.00 33 6 15.38 91 0 0.00 85 4 4.49 TLN2 0 genome.wustl.edu 37 15 63097816 63097816 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 15 63097816 63097816 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.6495 p.D2165 0.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 46 0 0.00 41 6 12.77 95 0 0.00 80 8 9.09 ARHGAP18 0 genome.wustl.edu 37 6 129905211 129905211 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 6 129905211 129905211 G A SNP ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known missense c.1760 p.S587L 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 tier1 rs137871841 - 50 0 0.00 48 5 9.43 79 0 0.00 76 8 9.52 SYT4 0 genome.wustl.edu 37 18 40850433 40850433 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 18 40850433 40850433 C T SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.1151 p.R384Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 rs149020215 - 43 0 0.00 45 4 8.16 114 0 0.00 97 5 4.85 CD209 0 genome.wustl.edu 37 19 7808072 7808072 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 7808072 7808072 G A SNP CD209 ENST00000601256 human ensembl 74_37 -1 known missense c.883 p.R295C 0.012 NULL superfamily_C-type_lectin_fold - no_errors CD209 HGNC ENSG00000090659 tier1 - - 78 0 0.00 71 17 19.32 119 2 1.65 110 8 6.78 CSPG4 0 genome.wustl.edu 37 15 75982848 75982848 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 15 75982848 75982848 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.558 p.P186 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 110 0 0.00 87 18 17.14 7 0 0.00 4 1 20.00 ENSG00000271959 0 genome.wustl.edu 37 8 142445541 142445542 + R INS - - CCCGCGGCCCTGGCCCG TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 8 142445541 142445542 - CCCGCGGCCCTGGCCCG INS ENSG00000271959 ENST00000606664 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-3064M3.7 Clone_based_vega_gene ENSG00000271959 tier1 10 0 0.00 3 0 0.00 10 0 0.00 3 0 0.00 SOHLH1 0 genome.wustl.edu 37 9 138586907 138586907 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 9 138586907 138586907 C T SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known silent c.864 p.A288 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 tier1 - - 17 0 0.00 17 4 18.18 6 0 0.00 5 0 0.00 GOLGA8S 0 genome.wustl.edu 37 15 23605389 23605389 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 15 23605389 23605389 G A SNP GOLGA8S ENST00000562295 human ensembl 74_37 +1 novel missense c.602 p.R201H 0.094 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 tier1 - - 260 0 0.00 241 35 12.64 0 0 0.00 1 0 0.00 OBSCN 0 genome.wustl.edu 37 1 228451900 228451900 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 228451900 228451900 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.4669 p.E1557K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 161 0 0.00 96 35 26.72 2 0 0.00 0 0 0.00 ATAD3C 0 genome.wustl.edu 37 1 1386075 1386075 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 1 1386075 1386075 C T SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known silent c.12 p.D4 0.972 NULL pfam_DUF3523,pfam_ATPase_AAA_core,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 tier1 - - 71 0 0.00 48 23 32.39 4 0 0.00 6 4 40.00 TAPBPL 0 genome.wustl.edu 37 12 6567949 6567949 + Missense_Mutation SNP C C G TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 12 6567949 6567949 C G SNP TAPBPL ENST00000266556 human ensembl 74_37 +1 known missense c.1043 p.S348C 0.194 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors TAPBPL HGNC ENSG00000139192 tier1 - - 103 0 0.00 107 19 15.08 47 0 0.00 40 2 4.76 FLT4 0 genome.wustl.edu 37 5 180040031 180040031 + Silent SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 5 180040031 180040031 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.3411 p.P1137 0.950 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_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 110 0 0.00 102 19 15.70 27 0 0.00 19 2 9.52 SLC7A9 0 genome.wustl.edu 37 19 33355561 33355561 + Missense_Mutation SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 19 33355561 33355561 G A SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.209 p.A70V 0.993 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 110 0 0.00 84 15 15.15 60 0 0.00 45 3 6.25 DSCAM 0 genome.wustl.edu 37 21 41385013 41385013 + Missense_Mutation SNP C C T TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 21 41385013 41385013 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5987 p.R1996Q 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 28 0 0.00 34 5 12.82 61 0 0.00 56 3 5.08 GLB1 0 genome.wustl.edu 37 3 33058210 33058210 + Silent SNP G G A TCGA-DX-A3M2-01A-21D-A228-09 TCGA-DX-A3M2-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4817e957-b838-4898-8074-28a44c974f2b 37354b9e-6333-4411-a61c-a111fe74725a 3 33058210 33058210 G A SNP GLB1 ENST00000445488 human ensembl 74_37 -1 known silent c.1614 p.N538 0.169 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 tier1 - - 62 0 0.00 51 12 19.05 133 0 0.00 93 2 2.08