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 COG8 0 genome.wustl.edu 37 16 69354710 69354710 + R SNP C C T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 16 69354710 69354710 C T SNP COG8 ENST00000564419 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors COG8 HGNC ENSG00000213380 tier1 - - 13 0 0.00 9 5 35.71 64 0 0.00 68 35 33.98 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 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 rs28934576 GMAF=0.0005 33 0 0.00 21 17 44.74 102 0 0.00 78 49 38.58 DPY19L3 0 genome.wustl.edu 37 19 32954861 32954861 + Nonsense_Mutation SNP C C G TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 19 32954861 32954861 C G SNP DPY19L3 ENST00000342179 human ensembl 74_37 +1 known nonsense c.1532 p.S511* 0.002 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 tier1 - - 86 0 0.00 31 35 53.03 103 0 0.00 71 65 47.79 NOS1 0 genome.wustl.edu 37 12 117672496 117672496 + Missense_Mutation SNP G G T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 12 117672496 117672496 G T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3109 p.H1037N 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 102 0 0.00 56 37 39.78 39 0 0.00 35 33 48.53 KCNV1 0 genome.wustl.edu 37 8 110984849 110984849 + Missense_Mutation SNP C C T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 8 110984849 110984849 C T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.629 p.R210H 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 65 0 0.00 18 11 37.93 69 0 0.00 57 47 45.19 MCF2L2 0 genome.wustl.edu 37 3 182994710 182994710 + Silent SNP C C T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 3 182994710 182994710 C T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known silent c.1812 p.G604 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 tier1 - - 135 0 0.00 66 46 41.07 50 0 0.00 40 33 45.21 ENSG00000272885 0 genome.wustl.edu 37 4 410222 410222 + R SNP G G A TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 4 410222 410222 G A SNP ENSG00000272885 ENST00000609771 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-2H3.6 Clone_based_vega_gene ENSG00000272885 tier1 - - 31 0 0.00 18 6 25.00 42 0 0.00 20 12 37.50 DYNC2H1 0 genome.wustl.edu 37 11 103173848 103173848 + Missense_Mutation SNP C C G TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 11 103173848 103173848 C G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.11143 p.L3715V 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 153 0 0.00 82 69 45.70 42 0 0.00 33 20 37.74 DYRK4 0 genome.wustl.edu 37 12 4708298 4708298 + Missense_Mutation SNP C C T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 12 4708298 4708298 C T SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.665 p.S222L 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK4 HGNC ENSG00000010219 tier1 - - 72 0 0.00 12 31 72.09 70 0 0.00 14 44 75.86 PCDH11X 0 genome.wustl.edu 37 X 91642819 91642819 + Missense_Mutation SNP G G A TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f X 91642819 91642819 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3230 p.S1077N 0.862 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 87 0 0.00 29 35 54.69 63 0 0.00 53 48 47.52 DH5 0 genome.wustl.edu 37 5 13911598 13911598 + Missense_Mutation SNP A A G TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 5 13911598 13911598 A G SNP DH5 ENST00000265104 human ensembl 74_37 -1 known missense c.1541 p.I514T 1.000 pfam_Dynein_heavy_dom-1 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 DH5 HGNC ENSG00000039139 tier1 - - 111 0 0.00 45 135 75.00 58 0 0.00 39 140 78.21 OR5B3 0 genome.wustl.edu 37 11 58170846 58170846 + Missense_Mutation SNP G G C TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 11 58170846 58170846 G C SNP OR5B3 ENST00000309403 human ensembl 74_37 -1 known missense c.37 p.L13V 0.029 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 tier1 - - 53 0 0.00 19 12 38.71 126 0 0.00 72 68 48.57 CENPH 0 genome.wustl.edu 37 5 68490472 68490472 + Splice_Site SNP A A C TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 5 68490472 68490472 A C SNP CENPH ENST00000283006 human ensembl 74_37 +1 known splice_site c.191-2 e3-2 1.000 - - - no_errors CENPH HGNC ENSG00000153044 tier1 - - 142 0 0.00 66 62 48.44 68 0 0.00 88 51 36.69 CHL1 0 genome.wustl.edu 37 3 403486 403486 + Missense_Mutation SNP G G A TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 3 403486 403486 G A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1411 p.V471M 0.627 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 82 0 0.00 35 39 52.70 101 1 0.98 70 71 50.35 TIMP2 0 genome.wustl.edu 37 17 76867051 76867051 + Missense_Mutation SNP T T C TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 17 76867051 76867051 T C SNP TIMP2 ENST00000262768 human ensembl 74_37 -1 known missense c.269 p.Y90C 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP2 HGNC ENSG00000035862 tier1 - - 57 0 0.00 23 37 61.67 45 0 0.00 36 51 58.62 PORCN 0 genome.wustl.edu 37 X 48372971 48372971 + Missense_Mutation SNP G G T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f X 48372971 48372971 G T SNP PORCN ENST00000326194 human ensembl 74_37 +1 known missense c.904 p.V302F 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 tier1 - - 110 0 0.00 75 40 34.78 96 0 0.00 101 56 35.44 AZI2 0 genome.wustl.edu 37 3 28364646 28364646 + R SNP G G T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 3 28364646 28364646 G T SNP AZI2 ENST00000295748 human ensembl 74_37 -1 known rna NULL NULL 0.517 - - - no_errors AZI2 HGNC ENSG00000163512 tier1 - - 23 0 0.00 11 9 45.00 43 0 0.00 40 28 41.18 SYT16 0 genome.wustl.edu 37 14 62542040 62542040 + Silent SNP G G A TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 14 62542040 62542040 G A SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known silent c.924 p.E308 0.982 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 tier1 - - 35 0 0.00 28 20 41.67 68 0 0.00 46 35 43.21 ENSG00000243175 0 genome.wustl.edu 37 4 144346345 144346345 + R SNP T T A TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 4 144346345 144346345 T A SNP ENSG00000243175 ENST00000494591 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-58H15.1 Clone_based_vega_gene ENSG00000243175 tier1 - - 25 0 0.00 13 16 55.17 10 0 0.00 18 3 14.29 CEP290 0 genome.wustl.edu 37 12 88457822 88457822 + Missense_Mutation SNP G G A TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 12 88457822 88457822 G A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.6212 p.S2071L 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 145 1 0.68 82 64 43.84 85 0 0.00 66 33 33.33 GOLM1 0 genome.wustl.edu 37 9 88650294 88650294 + Missense_Mutation SNP G G C TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 9 88650294 88650294 G C SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known missense c.1004 p.A335G 0.001 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 tier1 - - 58 0 0.00 31 24 43.64 56 0 0.00 52 45 46.39 TP53 0 genome.wustl.edu 37 17 7578242 7578242 + Missense_Mutation SNP C C A TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 17 7578242 7578242 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.607 p.V203L 0.809 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd 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 - - 69 0 0.00 37 36 49.32 84 1 1.18 77 63 45.00 ENSG00000272885 0 genome.wustl.edu 37 4 410242 410242 + R SNP G G C TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 4 410242 410242 G C SNP ENSG00000272885 ENST00000609771 human ensembl 74_37 -1 known rna NULL NULL 0.245 - - - no_errors RP11-2H3.6 Clone_based_vega_gene ENSG00000272885 tier1 - - 39 0 0.00 18 13 41.94 39 0 0.00 19 13 40.62 ENSG00000223291 0 genome.wustl.edu 37 6 12753947 12753947 + R SNP T T C TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 6 12753947 12753947 T C SNP ENSG00000223291 ENST00000411359 human ensembl 74_37 +1 novel rna NULL NULL 0.038 - - - no_errors AL354680.1 Clone_based_ensembl_gene ENSG00000223291 tier1 - - 96 0 0.00 24 33 57.89 96 0 0.00 79 68 46.26 OR2J3 0 genome.wustl.edu 37 6 29080103 29080103 + Missense_Mutation SNP C C G TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 6 29080103 29080103 C G SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.436 p.L146V 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 OR2J3 HGNC ENSG00000204701 tier1 - - 54 0 0.00 29 34 53.97 58 0 0.00 45 53 54.08 RB1 0 genome.wustl.edu 37 13 49033886 49033886 + Nonsense_Mutation SNP G G T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 13 49033886 49033886 G T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.2023 p.E675* 1.000 pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 rs137853295 - 123 0 0.00 3 37 92.50 116 0 0.00 1 52 98.11 RIPK4 0 genome.wustl.edu 37 21 43161219 43161219 + Missense_Mutation SNP C C T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 21 43161219 43161219 C T SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.2278 p.A760T 0.024 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 rs199540981 GMAF=0.0005 37 0 0.00 10 23 69.70 7 0 0.00 7 10 58.82 SEC61A2 0 genome.wustl.edu 37 10 12203044 12203044 + Missense_Mutation SNP A A G TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 10 12203044 12203044 A G SNP SEC61A2 ENST00000298428 human ensembl 74_37 +1 known missense c.1091 p.Y364C 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 tier1 - - 48 0 0.00 0 24 100.00 100 0 0.00 1 53 98.15 ZDHHC8P1 0 genome.wustl.edu 37 22 23742153 23742153 + R SNP G G T TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 22 23742153 23742153 G T SNP ZDHHC8P1 ENST00000255890 human ensembl 74_37 -1 known rna NULL NULL 0.957 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 tier1 - - 43 0 0.00 29 37 56.06 17 0 0.00 5 8 61.54 LAG3 0 genome.wustl.edu 37 12 6882880 6882880 + Frame_Shift_Del DEL C C - TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 12 6882880 6882880 C - DEL LAG3 ENST00000203629 human ensembl 74_37 +1 known frame_shift_del c.224 p.G77fs 0.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors LAG3 HGNC ENSG00000089692 tier1 16 0 0.00 7 2 22.22 19 0 0.00 6 0 0.00 ENSG00000261393 0 genome.wustl.edu 37 16 50402555 50402555 + R SNP C C A TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 16 50402555 50402555 C A SNP ENSG00000261393 ENST00000568427 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-21B23.1 Clone_based_vega_gene ENSG00000261393 tier1 - - 26 0 0.00 4 14 73.68 0 0 0.00 0 0 0.00 INF2 0 genome.wustl.edu 37 14 105173863 105173874 + In_Frame_Del DEL CCCCACCCCCAC CCCCACCCCCAC - TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 CCCCACCCCCAC CCCCACCCCCAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 14 105173863 105173874 CCCCACCCCCAC - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known in_frame_del c.1259_1270 p.PPPP424in_frame_del 0.431:0.313:0.918:0.874:0.812:0.982:0.976:0.941:0.992:0.945:0.221:0.238 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 1 0 0.00 1 0 0.00 1 0 0.00 1 0 0.00 LOC101927060 0 genome.wustl.edu 37 17 45177320 45177321 + R INS - - CGGCCC TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 17 45177320 45177321 - CGGCCC INS LOC101927060 ENST00000571665 human ensembl 74_37 -1 known rna NULL NULL 0.380:0.408 - - - no_errors RP11-156P1.3 Clone_based_vega_gene ENSG00000262879 tier1 0 0 0.00 3 1 25.00 0 0 0.00 3 1 25.00 MIR3118-4 0 genome.wustl.edu 37 15 21038172 21038172 + R SNP C C G TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 15 21038172 21038172 C G SNP MIR3118-4 ENST00000584700 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3118-4 HGNC ENSG00000265322 tier1 - - 19 0 0.00 10 4 28.57 3 0 0.00 0 0 0.00 CEL 0 genome.wustl.edu 37 9 135946015 135946015 + Missense_Mutation SNP T T C TCGA-DX-A7EN-01A-11D-A38Z-09 TCGA-DX-A7EN-11A-11D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a84adb8-cf08-4b90-87b1-f83b1bfd708d 80559ba7-da24-409e-83d1-cb19b30cd06f 9 135946015 135946015 T C SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1463 p.I488T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 rs77696629 - 45 0 0.00 49 8 14.04 64 0 0.00 77 3 3.75