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 ABTB2 0 genome.wustl.edu 37 11 34182592 34182593 + Frame_Shift_Del DEL AG AG - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 11 34182592 34182593 AG - DEL ABTB2 ENST00000435224 human ensembl 74_37 -1 known frame_shift_del c.2255_2254 p.L752fs 1.000:0.993 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 19 0 0.00 10 4 28.57 ADAM23 0 genome.wustl.edu 37 2 207435497 207435497 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 2 207435497 207435497 G A SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.1528 p.V510M 1.000 pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 - - 66 0 0.00 30 27 47.37 ADCY5 0 genome.wustl.edu 37 3 123166565 123166565 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 3 123166565 123166565 G A SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.828 p.A276 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 tier1 - - 27 0 0.00 9 7 43.75 ATP6V0A4 0 genome.wustl.edu 37 7 138441228 138441228 + Missense_Mutation SNP G G C TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 7 138441228 138441228 G C SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.697 p.Q233E 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 tier1 - - 188 0 0.00 98 71 42.01 BNC2 0 genome.wustl.edu 37 9 16738427 16738427 + Missense_Mutation SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 9 16738427 16738427 C A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.60 p.R20S 0.881 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 36 0 0.00 21 12 36.36 BOK 0 genome.wustl.edu 37 2 242511816 242511816 + Missense_Mutation SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 2 242511816 242511816 C A SNP BOK ENST00000318407 human ensembl 74_37 +1 known missense c.618 p.F206L 0.045 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BOK HGNC ENSG00000176720 12 0 0.00 4 3 42.86 C10orf62 0 genome.wustl.edu 37 10 99350030 99350030 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 10 99350030 99350030 G A SNP C10orf62 ENST00000370640 human ensembl 74_37 +1 known missense c.376 p.A126T 0.002 NULL NULL - no_errors C10orf62 HGNC ENSG00000203942 tier1 - - 67 0 0.00 23 15 39.47 C3orf55 0 genome.wustl.edu 37 3 157271117 157271117 + Missense_Mutation SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 3 157271117 157271117 C A SNP C3orf55 ENST00000449199 human ensembl 74_37 +1 known missense c.71 p.T24N 0.004 NULL NULL - no_errors C3orf55 HGNC ENSG00000174899 tier1 - - 12 0 0.00 2 7 77.78 CBWD3 0 genome.wustl.edu 37 9 70912543 70912543 + Missense_Mutation SNP A A T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 9 70912543 70912543 A T SNP CBWD3 ENST00000360171 human ensembl 74_37 +1 known missense c.864 p.E288D 0.900 pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD3 HGNC ENSG00000196873 tier1 - - 31 0 0.00 11 3 21.43 CD109 0 genome.wustl.edu 37 6 74491019 74491019 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 6 74491019 74491019 C T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.1940 p.T647M 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 71 0 0.00 45 22 32.84 CDC20B 0 genome.wustl.edu 37 5 54420715 54420715 + Silent SNP T T C TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 5 54420715 54420715 T C SNP CDC20B ENST00000296733 human ensembl 74_37 -1 known silent c.1131 p.G377 0.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20B HGNC ENSG00000164287 tier1 - - 120 0 0.00 58 21 26.25 CEPT1 0 genome.wustl.edu 37 1 111690319 111690320 + RNA INS - - A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 1 111690319 111690320 - A INS CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 tier1 32 0 0.00 19 6 24.00 CHD4 0 genome.wustl.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 12 6711207 6711209 CTT - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known in_frame_del c.357_355 p.K119in_frame_del 0.999:1.000:1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 42 0 0.00 23 3 11.54 CTNNB1 0 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 3 41266097 41266097 G T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.94 p.D32Y 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 rs28931588 - 48 0 0.00 14 16 53.33 CYP4Z2P 0 genome.wustl.edu 37 1 47366070 47366070 + RNA SNP G G T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 1 47366070 47366070 G T SNP CYP4Z2P ENST00000505841 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CYP4Z2P HGNC ENSG00000154198 tier1 - - 8 0 0.00 9 10 52.63 EMR1 0 genome.wustl.edu 37 19 6897461 6897461 + Missense_Mutation SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 19 6897461 6897461 C A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.417 p.S139R 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 tier1 - - 66 0 0.00 45 22 32.35 EMX1 0 genome.wustl.edu 37 2 73161038 73161038 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 2 73161038 73161038 G A SNP EMX1 ENST00000258106 human ensembl 74_37 +1 known silent c.828 p.T276 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors EMX1 HGNC ENSG00000135638 tier1 - - 54 0 0.00 21 12 36.36 ENSG00000229702 0 genome.wustl.edu 37 X 129629117 129629117 + RNA SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 X 129629117 129629117 G A SNP ENSG00000229702 ENST00000458525 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-274L7.1 Clone_based_vega_gene ENSG00000229702 tier1 - - 14 0 0.00 1 15 93.75 ENSG00000258938 0 genome.wustl.edu 37 14 36288972 36288972 + RNA SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 14 36288972 36288972 C A SNP ENSG00000258938 ENST00000555918 human ensembl 74_37 -1 known rna NULL NULL 0.953 - - - no_errors RP11-317N8.5 Clone_based_vega_gene ENSG00000258938 tier1 - - 17 0 0.00 6 6 50.00 ENSG00000272056 0 genome.wustl.edu 37 2 27276504 27276505 + RNA INS - - T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 2 27276504 27276505 - T INS ENSG00000272056 ENST00000607407 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-503P10.1 Clone_based_vega_gene ENSG00000272056 tier1 25 0 0.00 23 3 11.54 ERN2 0 genome.wustl.edu 37 16 23706584 23706584 + Missense_Mutation SNP G G C TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 16 23706584 23706584 G C SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.1881 p.C627W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 tier1 - - 42 0 0.00 14 14 50.00 FAT2 0 genome.wustl.edu 37 5 150922047 150922047 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 5 150922047 150922047 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.8641 p.G2881R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 154 0 0.00 82 66 44.59 FCER2 0 genome.wustl.edu 37 19 7755063 7755063 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 19 7755063 7755063 C T SNP FCER2 ENST00000346664 human ensembl 74_37 -1 known missense c.710 p.G237E 0.027 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors FCER2 HGNC ENSG00000104921 tier1 - - 38 0 0.00 5 38 88.37 FCGR1A 0 genome.wustl.edu 37 1 149761682 149761682 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 1 149761682 149761682 G A SNP FCGR1A ENST00000369168 human ensembl 74_37 +1 known missense c.632 p.S211N 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR1A HGNC ENSG00000150337 tier1 - - 35 0 0.00 17 21 55.26 GDF15 0 genome.wustl.edu 37 19 18499304 18499304 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 19 18499304 18499304 G A SNP GDF15 ENST00000252809 human ensembl 74_37 +1 known silent c.486 p.P162 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF15 HGNC ENSG00000130513 tier1 - - 14 0 0.00 6 8 57.14 HERC5 0 genome.wustl.edu 37 4 89425457 89425457 + Missense_Mutation SNP G G T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 4 89425457 89425457 G T SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.2657 p.R886I 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 tier1 - - 68 0 0.00 32 27 45.76 HK3 0 genome.wustl.edu 37 5 176314265 176314265 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 5 176314265 176314265 G A SNP HK3 ENST00000292432 human ensembl 74_37 -1 known silent c.1674 p.G558 0.249 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 tier1 rs141954469 - 39 0 0.00 18 14 43.75 HPCAL1 0 genome.wustl.edu 37 2 10560163 10560163 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 2 10560163 10560163 C T SNP HPCAL1 ENST00000307845 human ensembl 74_37 +1 known missense c.280 p.R94W 0.980 pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 tier1 - - 42 0 0.00 39 25 39.06 IGBP1 0 genome.wustl.edu 37 X 69366608 69366608 + Missense_Mutation SNP T T C TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 X 69366608 69366608 T C SNP IGBP1 ENST00000342206 human ensembl 74_37 +1 known missense c.608 p.I203T 0.924 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 31 0 0.00 29 5 14.71 IRX2 0 genome.wustl.edu 37 5 2752882 2752882 + RNA SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 5 2752882 2752882 C T SNP IRX2 ENST00000502957 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors IRX2 HGNC ENSG00000170561 tier1 - - 94 0 0.00 44 24 34.78 KCNH8 0 genome.wustl.edu 37 3 19479762 19479762 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 3 19479762 19479762 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.1284 p.T428 0.138 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 102 0 0.00 37 31 45.59 KDELC1 0 genome.wustl.edu 37 13 103450844 103450844 + Silent SNP C C G TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 13 103450844 103450844 C G SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known silent c.177 p.G59 0.019 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 tier1 - - 65 0 0.00 28 17 37.78 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 12 25398284 25398284 C A SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs121913529 - 92 0 0.00 8 34 80.95 LAMA1 0 genome.wustl.edu 37 18 6966262 6966262 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 18 6966262 6966262 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.6934 p.G2312R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 rs138821699 - 26 0 0.00 15 10 40.00 LGALS9C 0 genome.wustl.edu 37 17 18380164 18380165 + RNA DEL GA GA - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 17 18380164 18380165 GA - DEL LGALS9C ENST00000578983 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors LGALS9C HGNC ENSG00000171916 tier1 50 0 0.00 33 2 5.71 LPAL2 0 genome.wustl.edu 37 6 160921912 160921912 + RNA SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 6 160921912 160921912 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.860 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 366 0 0.00 177 97 35.40 LRRIQ1 0 genome.wustl.edu 37 12 85450391 85450391 + Missense_Mutation SNP T T A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 12 85450391 85450391 T A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.1820 p.I607N 0.103 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 35 0 0.00 27 13 32.50 MAGEC1 0 genome.wustl.edu 37 X 140993840 140993840 + Frame_Shift_Del DEL C C - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 X 140993840 140993840 C - DEL MAGEC1 ENST00000285879 human ensembl 74_37 +1 known frame_shift_del c.650 p.P218fs 0.014 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 209 0 0.00 94 68 41.98 MAP2K7 0 genome.wustl.edu 37 19 7975017 7975017 + Silent SNP A A G TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 19 7975017 7975017 A G SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known silent c.336 p.V112 0.983 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 MAP2K7 HGNC ENSG00000076984 tier1 - - 21 0 0.00 5 13 72.22 MIR1277 0 genome.wustl.edu 37 X 117520365 117520366 + RNA INS - - AT TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 X 117520365 117520366 - AT INS MIR1277 ENST00000408536 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.986 - - - no_errors MIR1277 HGNC ENSG00000221463 tier1 46 0 0.00 36 2 5.26 MLYCD 0 genome.wustl.edu 37 16 83933143 83933143 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 16 83933143 83933143 G A SNP MLYCD ENST00000262430 human ensembl 74_37 +1 known missense c.394 p.A132T 0.999 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 tier1 - - 12 0 0.00 5 4 44.44 NKX2-1 0 genome.wustl.edu 37 14 36986999 36986999 + Silent SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 14 36986999 36986999 C T SNP NKX2-1 ENST00000354822 human ensembl 74_37 -1 known silent c.690 p.L230 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 tier1 - - 24 0 0.00 12 10 45.45 NODAL 0 genome.wustl.edu 37 10 72195044 72195044 + Frame_Shift_Del DEL G G - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 10 72195044 72195044 G - DEL NODAL ENST00000287139 human ensembl 74_37 -1 known frame_shift_del c.889 p.Q297fs 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors NODAL HGNC ENSG00000156574 tier1 17 0 0.00 4 2 33.33 NR1D1 0 genome.wustl.edu 37 17 38251768 38251768 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 17 38251768 38251768 C T SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.1177 p.V393M 0.728 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 tier1 rs147554352 - 59 0 0.00 35 34 49.28 NUTM2F 0 genome.wustl.edu 37 9 97082645 97082645 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 9 97082645 97082645 G A SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known silent c.1213 p.L405 0.487 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 tier1 - - 62 0 0.00 24 19 44.19 NWD1 0 genome.wustl.edu 37 19 16860012 16860012 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 19 16860012 16860012 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.559 p.V187I 0.004 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 rs142661674 - 53 0 0.00 26 14 34.15 P2RX4 0 genome.wustl.edu 37 12 121666843 121666845 + In_Frame_Del DEL CTT CTT - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 12 121666843 121666845 CTT - DEL P2RX4 ENST00000337233 human ensembl 74_37 +1 known in_frame_del c.825_827 p.F276in_frame_del 1.000:1.000:1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 tier1 61 0 0.00 29 21 42.00 PABPC3 0 genome.wustl.edu 37 13 25672132 25672132 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 13 25672132 25672132 G A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.1796 p.R599H 1.000 pfam_PABP_HYD,superfamily_PABP_HYD,smart_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 tier1 - - 134 0 0.00 72 57 44.19 PCDH8 0 genome.wustl.edu 37 13 53418818 53418818 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 13 53418818 53418818 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.3090 p.V1030 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 tier1 - - 124 0 0.00 59 28 32.18 PCDHB2 0 genome.wustl.edu 37 5 140475968 140475968 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 5 140475968 140475968 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.1594 p.R532C 0.026 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 - - 92 0 0.00 33 48 59.26 PCDHGA9 0 genome.wustl.edu 37 5 140784941 140784941 + Missense_Mutation SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 5 140784941 140784941 C A SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.2422 p.P808T 0.117 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 tier1 - - 48 0 0.00 18 11 37.93 PHB 0 genome.wustl.edu 37 17 47486440 47486440 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 17 47486440 47486440 G A SNP PHB ENST00000300408 human ensembl 74_37 -1 known silent c.474 p.A158 0.370 pfam_Band_7,smart_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB HGNC ENSG00000167085 tier1 rs201875820 - 72 0 0.00 20 30 60.00 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs104886003 - 54 0 0.00 25 23 47.92 PLCE1 0 genome.wustl.edu 37 10 96012129 96012129 + Silent SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 10 96012129 96012129 C A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.3153 p.G1051 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 82 0 0.00 43 8 15.69 POTEE 0 genome.wustl.edu 37 2 132010511 132010511 + Silent SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 2 132010511 132010511 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.1617 p.I539 0.004 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 125 0 0.00 103 14 11.97 PTCHD4 0 genome.wustl.edu 37 6 47846569 47846569 + Missense_Mutation SNP C C G TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 6 47846569 47846569 C G SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.2011 p.V671L 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 - - 60 0 0.00 39 8 17.02 PVR 0 genome.wustl.edu 37 19 45150575 45150575 + Frame_Shift_Del DEL C C - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 19 45150575 45150575 C - DEL PVR ENST00000425690 human ensembl 74_37 +1 known frame_shift_del c.160 p.N55fs 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVR HGNC ENSG00000073008 tier1 9 0 0.00 4 2 33.33 RAVER2 0 genome.wustl.edu 37 1 65243344 65243344 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 1 65243344 65243344 G A SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.355 p.A119T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 tier1 - - 91 0 0.00 85 5 5.56 RBBP5 0 genome.wustl.edu 37 1 205069085 205069085 + Missense_Mutation SNP A A G TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 1 205069085 205069085 A G SNP RBBP5 ENST00000264515 human ensembl 74_37 -1 known missense c.860 p.V287A 1.000 smart_WD40_repeat pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP5 HGNC ENSG00000117222 tier1 - - 171 0 0.00 85 51 36.96 RBM46 0 genome.wustl.edu 37 4 155720111 155720111 + Missense_Mutation SNP G G T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 4 155720111 155720111 G T SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.797 p.R266L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 tier1 - - 37 0 0.00 35 21 37.50 SCARF2 0 genome.wustl.edu 37 22 20780115 20780115 + Silent SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 22 20780115 20780115 G A SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known silent c.2148 p.T716 0.994 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 tier1 - - 10 0 0.00 6 10 62.50 SECISBP2L 0 genome.wustl.edu 37 15 49309051 49309051 + Frame_Shift_Del DEL T T - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 15 49309051 49309051 T - DEL SECISBP2L ENST00000559471 human ensembl 74_37 -1 known frame_shift_del c.1413 p.K471fs 0.983 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 tier1 77 0 0.00 47 3 6.00 SERPINB4 0 genome.wustl.edu 37 18 61310748 61310748 + Missense_Mutation SNP A A T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 18 61310748 61310748 A T SNP SERPINB4 ENST00000341074 human ensembl 74_37 -1 known missense c.64 p.S22T 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB4 HGNC ENSG00000206073 tier1 - - 150 0 0.00 80 74 47.74 SLC6A1 0 genome.wustl.edu 37 3 11058951 11058951 + Silent SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 3 11058951 11058951 C T SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known silent c.54 p.S18 0.998 prints_Na/ntran_symport_GABA_GAT1 pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 tier1 - - 39 0 0.00 18 13 41.94 SLFN5 0 genome.wustl.edu 37 17 33591892 33591892 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 17 33591892 33591892 G A SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.1829 p.C610Y 0.982 pfam_DUF2075,superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 tier1 - - 126 0 0.00 88 61 40.94 SMOX 0 genome.wustl.edu 37 20 4168106 4168106 + RNA SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 20 4168106 4168106 C T SNP SMOX ENST00000486998 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SMOX HGNC ENSG00000088826 tier1 - - 27 0 0.00 17 21 55.26 SPTLC1 0 genome.wustl.edu 37 9 94797132 94797132 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 9 94797132 94797132 G A SNP SPTLC1 ENST00000262554 human ensembl 74_37 -1 known missense c.1288 p.R430C 0.985 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC1 HGNC ENSG00000090054 tier1 rs143754785 - 151 0 0.00 104 40 27.78 SV2A 0 genome.wustl.edu 37 1 149882468 149882468 + Nonsense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 1 149882468 149882468 G A SNP SV2A ENST00000369146 human ensembl 74_37 -1 known nonsense c.865 p.R289* 0.999 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 tier1 - - 31 0 0.00 12 7 36.84 SVEP1 0 genome.wustl.edu 37 9 113221287 113221287 + Missense_Mutation SNP A A C TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 9 113221287 113221287 A C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.3429 p.C1143W 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 68 0 0.00 47 37 43.53 TAPT1-AS1 0 genome.wustl.edu 37 4 16258164 16258164 + RNA SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 4 16258164 16258164 G A SNP TAPT1-AS1 ENST00000570786 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TAPT1-AS1 HGNC ENSG00000263327 tier1 - - 18 0 0.00 6 7 53.85 TAS1R2 0 genome.wustl.edu 37 1 19180734 19180734 + Nonsense_Mutation SNP G G T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 1 19180734 19180734 G T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel nonsense c.1230 p.C410* 0.903 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 TAS1R2 HGNC ENSG00000179002 tier1 - - 39 0 0.00 13 7 35.00 TCF7 0 genome.wustl.edu 37 5 133451042 133451043 + Frame_Shift_Del DEL CT CT - TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 5 133451042 133451043 CT - DEL TCF7 ENST00000321584 human ensembl 74_37 +1 known frame_shift_del c.280_281 p.F95fs 1.000:1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 tier1 11 0 0.00 4 6 60.00 TDG 0 genome.wustl.edu 37 12 104380725 104380725 + Splice_Site SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 12 104380725 104380725 G A SNP TDG ENST00000392872 human ensembl 74_37 +1 known splice_site c.1091-1 e10-1 0.388 - - - no_errors TDG HGNC ENSG00000139372 91 0 0.00 83 6 6.74 TESK1 0 genome.wustl.edu 37 9 35607492 35607492 + RNA SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 9 35607492 35607492 G A SNP TESK1 ENST00000463897 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TESK1 HGNC ENSG00000107140 tier1 - - 57 0 0.00 29 16 35.56 TLR2 0 genome.wustl.edu 37 4 154626364 154626364 + Missense_Mutation SNP G G T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 4 154626364 154626364 G T SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.2305 p.A769S 0.038 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 - - 70 0 0.00 40 22 35.48 TMEM132E 0 genome.wustl.edu 37 17 32953394 32953394 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 17 32953394 32953394 G A SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.316 p.E106K 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 tier1 - - 31 0 0.00 10 8 44.44 TOR1AIP1 0 genome.wustl.edu 37 1 179873152 179873152 + Nonsense_Mutation SNP C C G TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 1 179873152 179873152 C G SNP TOR1AIP1 ENST00000528443 human ensembl 74_37 +1 known nonsense c.794 p.S265* 0.996 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 tier1 - - 70 0 0.00 32 20 38.46 UAP1L1 0 genome.wustl.edu 37 9 139973875 139973875 + Silent SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 9 139973875 139973875 C T SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known silent c.1011 p.T337 0.008 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 tier1 - - 95 0 0.00 38 25 39.68 UBE3B 0 genome.wustl.edu 37 12 109967846 109967846 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 12 109967846 109967846 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.2779 p.D927N 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 87 0 0.00 61 27 30.68 USH1G 0 genome.wustl.edu 37 17 72916366 72916366 + Missense_Mutation SNP G G A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 17 72916366 72916366 G A SNP USH1G ENST00000319642 human ensembl 74_37 -1 known missense c.565 p.R189W 0.988 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 tier1 - - 53 0 0.00 37 11 22.92 VPS8 0 genome.wustl.edu 37 3 184587293 184587293 + Nonsense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 3 184587293 184587293 C T SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known nonsense c.1621 p.R541* 0.898 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 tier1 - - 46 0 0.00 33 15 31.25 XIRP2 0 genome.wustl.edu 37 2 168100009 168100009 + Missense_Mutation SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 2 168100009 168100009 C A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.2107 p.Q703K 0.999 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 95 0 0.00 42 32 43.24 ZAN 0 genome.wustl.edu 37 7 100361511 100361511 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 7 100361511 100361511 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.4069 p.R1357W 0.707 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 121 0 0.00 77 30 28.04 ZNF500 0 genome.wustl.edu 37 16 4812305 4812305 + Silent SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 16 4812305 4812305 C T SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known silent c.630 p.A210 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 tier1 - - 10 0 0.00 11 12 52.17 ZNF599 0 genome.wustl.edu 37 19 35250759 35250759 + Missense_Mutation SNP C C A TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 19 35250759 35250759 C A SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.947 p.C316F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 tier1 - - 90 0 0.00 47 31 39.74 ZNF804A 0 genome.wustl.edu 37 2 185803410 185803410 + Missense_Mutation SNP C C T TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 2 185803410 185803410 C T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.3287 p.T1096I 0.998 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 75 0 0.00 24 16 40.00 ZNF880 0 genome.wustl.edu 37 19 52888050 52888050 + Missense_Mutation SNP A A G TCGA-VQ-AA69-01A-11D-A410-08 TCGA-VQ-AA69-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a12461dd-9ccd-4b7f-9c73-646043bd9c6a 178d1512-83c7-45a8-8529-cd367fb47b24 19 52888050 52888050 A G SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.1217 p.Q406R 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 ZNF880 HGNC ENSG00000221923 tier1 rs76053634 - 22 0 0.00 15 6 28.57