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 OR6N1 0 genome.wustl.edu 37 1 158735615 158735615 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 1 158735615 158735615 G T SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.858 p.N286K 0.911 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 277 0 0 219 61 21.7857 KNDC1 0 genome.wustl.edu 37 10 135000076 135000076 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 10 135000076 135000076 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.1224 p.A408 0.000 NULL 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 65 0 0 18 14 43.75 ARHGAP22 0 genome.wustl.edu 37 10 49687662 49687662 + Silent SNP C C G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 10 49687662 49687662 C G SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known silent c.468 p.S156 0.998 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 34 0 0 40 10 20 CCDC34 0 genome.wustl.edu 37 11 27360462 27360462 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 11 27360462 27360462 G T SNP CCDC34 ENST00000328697 human ensembl 74_37 -1 known missense c.1028 p.P343H 0.889 NULL NULL - no_errors CCDC34 HGNC ENSG00000109881 266 0 0 74 101 57.7143 LOC101930578 0 genome.wustl.edu 37 13 52863973 52863973 + RNA SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 13 52863973 52863973 G A SNP LOC101930578 ENST00000451298 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-248G5.8 Clone_based_vega_gene ENSG00000217576 31 0 0 28 18 39.1304 GABRB3 0 genome.wustl.edu 37 15 26866506 26866506 + Missense_Mutation SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 15 26866506 26866506 C T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.416 p.R139H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 239 0 0 138 69 33.3333 OTUD7A 0 genome.wustl.edu 37 15 31818561 31818561 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 15 31818561 31818561 G A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.884 p.T295M 0.995 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 12 0 0 8 3 27.2727 AGBL1 0 genome.wustl.edu 37 15 86697783 86697783 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 15 86697783 86697783 G T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.247 p.A83S 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 77 0 0 45 28 38.3562 CDH1 0 genome.wustl.edu 37 16 68847277 68847277 + Missense_Mutation SNP A A T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 16 68847277 68847277 A T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.1199 p.D400V 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 208 0 0 80 158 66.3866 KSR1 0 genome.wustl.edu 37 17 25936339 25936339 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 17 25936339 25936339 G A SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.2275 p.V759M 0.998 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,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 186 0 0 138 9 6.12245 CRYBA1 0 genome.wustl.edu 37 17 27581346 27581346 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 17 27581346 27581346 G A SNP CRYBA1 ENST00000225387 human ensembl 74_37 +1 known silent c.627 p.S209 0.033 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA1 HGNC ENSG00000108255 212 2 0.934579 159 33 17.1875 ALOX15 0 genome.wustl.edu 37 17 4542894 4542894 + Silent SNP A A G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 17 4542894 4542894 A G SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known silent c.234 p.Y78 0.465 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 26 0 0 26 4 13.3333 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 65 0 0 30 37 55.2239 DNAH17 0 genome.wustl.edu 37 17 76521203 76521203 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 17 76521203 76521203 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.3740 p.A1247V 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 38 0 0 5 11 68.75 EPB41L3 0 genome.wustl.edu 37 18 5438045 5438045 + Missense_Mutation SNP T T A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 18 5438045 5438045 T A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.594 p.E198D 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 86 0 0 66 52 44.0678 COL5A3 0 genome.wustl.edu 37 19 10100039 10100039 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 19 10100039 10100039 G T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.2050 p.H684N 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 90 0 0 49 41 45.5556 ZNF714 0 genome.wustl.edu 37 19 21266856 21266856 + RNA SNP T T C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 19 21266856 21266856 T C SNP ZNF714 ENST00000600535 human ensembl 74_37 +1 putative rna NULL NULL 0.021 - - - no_errors ZNF714 HGNC ENSG00000160352 18 0 0 20 2 9.09091 ZNF257 0 genome.wustl.edu 37 19 22271685 22271685 + Missense_Mutation SNP G G C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 19 22271685 22271685 G C SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.1133 p.G378A 0.997 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 ZNF257 HGNC ENSG00000197134 64 0 0 48 11 18.6441 TSKS 0 genome.wustl.edu 37 19 50249743 50249743 + Missense_Mutation SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 19 50249743 50249743 C T SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.976 p.G326S 0.802 NULL NULL - no_errors TSKS HGNC ENSG00000126467 51 0 0 43 4 8.51064 AURKC 0 genome.wustl.edu 37 19 57746374 57746374 + Missense_Mutation SNP A A T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 19 57746374 57746374 A T SNP AURKC ENST00000302804 human ensembl 74_37 +1 known missense c.707 p.Y236F 0.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKC HGNC ENSG00000105146 79 0 0 66 11 14.2857 C3 0 genome.wustl.edu 37 19 6710823 6710823 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 19 6710823 6710823 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1513 p.R505C 0.030 pfam_A2M_N_2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 64 0 0 51 30 37.037 INSR 0 genome.wustl.edu 37 19 7132258 7132258 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 19 7132258 7132258 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.2753 p.P918L 0.997 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 37 0 0 43 4 8.51064 CERS6 0 genome.wustl.edu 37 2 169404164 169404164 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 2 169404164 169404164 G T SNP CERS6 ENST00000392687 human ensembl 74_37 +1 known missense c.229 p.A77S 1.000 superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 65 0 0 64 9 12.3288 CCDC141 0 genome.wustl.edu 37 2 179736940 179736940 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 2 179736940 179736940 G A SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.1999 p.R667W 0.740 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 158 0 0 158 19 10.7345 CTLA4 0 genome.wustl.edu 37 2 204735471 204735471 + Missense_Mutation SNP T T C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 2 204735471 204735471 T C SNP CTLA4 ENST00000302823 human ensembl 74_37 +1 known missense c.272 p.M91T 0.001 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4 - no_errors CTLA4 HGNC ENSG00000163599 125 0 0 72 58 44.6154 SLC16A14 0 genome.wustl.edu 37 2 230902153 230902153 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 2 230902153 230902153 C T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known silent c.1476 p.P492 0.167 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 135 0 0 92 66 41.7722 PRPF6 0 genome.wustl.edu 37 20 62658497 62658497 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 20 62658497 62658497 G A SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.2191 p.A731T 1.000 smart_TPR_repeat,smart_HAT,pfscan_TPR-contain_dom pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 64 0 0 63 5 7.35294 ANKRD30BP2 0 genome.wustl.edu 37 21 14417526 14417526 + RNA SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 21 14417526 14417526 G A SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 31 0 0 29 3 9.375 TIAM1 0 genome.wustl.edu 37 21 32493037 32493037 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 21 32493037 32493037 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.4425 p.P1475 0.845 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 106 0 0 79 38 32.4786 COL6A2 0 genome.wustl.edu 37 21 47549381 47549381 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 21 47549381 47549381 C T SNP COL6A2 ENST00000357838 human ensembl 74_37 +1 known silent c.2733 p.P911 0.837 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 22 0 0 12 11 47.8261 CAND2 0 genome.wustl.edu 37 3 12858630 12858630 + Silent SNP T T C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 3 12858630 12858630 T C SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known silent c.2199 p.S733 0.056 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 48 0 0 12 23 65.7143 GHSR 0 genome.wustl.edu 37 3 172165804 172165804 + Missense_Mutation SNP T T A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 3 172165804 172165804 T A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.400 p.I134F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 42 0 0 45 28 38.3562 PSMD2 0 genome.wustl.edu 37 3 184024196 184024196 + Missense_Mutation SNP C C G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 3 184024196 184024196 C G SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.1863 p.D621E 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 154 0 0 122 57 31.8436 ITIH3 0 genome.wustl.edu 37 3 52837878 52837878 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 3 52837878 52837878 G A SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known missense c.1717 p.A573T 0.524 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 31 0 0 20 5 20 PCDHA11 0 genome.wustl.edu 37 5 140249981 140249981 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 5 140249981 140249981 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1293 p.S431 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 172 0 0 152 26 14.6067 PCDHA11 0 genome.wustl.edu 37 5 140250857 140250857 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 5 140250857 140250857 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.2169 p.S723 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 61 0 0 42 3 6.66667 MXD3 0 genome.wustl.edu 37 5 176734800 176734800 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 5 176734800 176734800 G A SNP MXD3 ENST00000439742 human ensembl 74_37 -1 known missense c.487 p.R163C 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD3 HGNC ENSG00000213347 23 0 0 13 14 51.8519 MAST4 0 genome.wustl.edu 37 5 66429354 66429354 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 5 66429354 66429354 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known silent c.2115 p.T705 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 259 0 0 149 91 37.9167 MBOAT1 0 genome.wustl.edu 37 6 20113188 20113188 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 6 20113188 20113188 C T SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known silent c.1128 p.L376 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 89 0 0 79 32 28.8288 OPN5 0 genome.wustl.edu 37 6 47776100 47776100 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 6 47776100 47776100 G T SNP OPN5 ENST00000371211 human ensembl 74_37 +1 known missense c.967 p.A323S 0.960 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 209 0 0 181 71 28.1746 WRN 0 genome.wustl.edu 37 8 31014945 31014945 + Missense_Mutation SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 8 31014945 31014945 C T SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.3881 p.A1294V 0.865 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 109 0 0 85 9 9.57447 OR1J4 0 genome.wustl.edu 37 9 125281714 125281714 + Missense_Mutation SNP A A C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 9 125281714 125281714 A C SNP OR1J4 ENST00000340750 human ensembl 74_37 +1 known missense c.295 p.T99P 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 OR1J4 HGNC ENSG00000239590 453 2 0.43956 130 158 54.8611 CDKN2A 0 genome.wustl.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 9 21971111 21971111 G A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 12 0 0 4 12 75 LINGO2 0 genome.wustl.edu 37 9 27949698 27949698 + Silent SNP G G A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 9 27949698 27949698 G A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known silent c.972 p.R324 0.467 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 122 0 0 39 57 59.375 NOL8 0 genome.wustl.edu 37 9 95073453 95073453 + Missense_Mutation SNP C C G TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 9 95073453 95073453 C G SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.2447 p.S816T 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 64 0 0 49 10 16.9492 SERPINA7 0 genome.wustl.edu 37 X 105279201 105279201 + Silent SNP C C T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f X 105279201 105279201 C T SNP SERPINA7 ENST00000327674 human ensembl 74_37 -1 known silent c.798 p.L266 0.974 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA7 HGNC ENSG00000123561 185 0 0 202 12 5.60748 MAGEC1 0 genome.wustl.edu 37 X 140995215 140995215 + Silent SNP T T A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f X 140995215 140995215 T A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.2025 p.P675 0.592 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 175 0 0 193 11 5.39216 ABCD1 0 genome.wustl.edu 37 X 153008476 153008476 + Missense_Mutation SNP T T C TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f X 153008476 153008476 T C SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.1816 p.S606P 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 9 0 0 7 4 36.3636 SSX1 0 genome.wustl.edu 37 X 48116745 48116745 + Missense_Mutation SNP G G T TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f X 48116745 48116745 G T SNP SSX1 ENST00000376919 human ensembl 74_37 +1 known missense c.69 p.K23N 0.043 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX1 HGNC ENSG00000126752 20 0 0 33 3 8.33333 ENSG00000259859 0 genome.wustl.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 16 64770704 64770705 - CCAGTGATGGTCACCT INS ENSG00000259859 ENST00000564293 human ensembl 74_37 +1 known rna NULL NULL 0.009:0.006 - - - no_errors RP11-439I14.2 Clone_based_vega_gene ENSG00000259859 10 0 0 11 9 45 DUSP19 0 genome.wustl.edu 37 2 183948284 183948285 + Splice_Site INS - - A TCGA-CD-5799-01A-11D-1600-08 TCGA-CD-5799-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb59b79f-bd36-4bf4-83e3-2af73bd1d30a 14228088-eadd-469e-890d-586176daf99f 2 183948284 183948285 - A INS DUSP19 ENST00000354221 human ensembl 74_37 +1 known splice_site_ins c.273+2_273+1 e2+2 1.000:0.997 - - - no_errors DUSP19 HGNC ENSG00000162999 126 0 0 133 17 11.3333