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 GABRG3 0 genome.wustl.edu 37 15 27572085 27572085 + Missense_Mutation SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 15 27572085 27572085 C T SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known missense c.400 p.R134C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 tier1 - - 62 0 0.00 42 20 32.26 99 0 0.00 53 46 46.46 PCDHA12 0 genome.wustl.edu 37 5 140256478 140256478 + Missense_Mutation SNP T T C TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 5 140256478 140256478 T C SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1421 p.I474T 0.997 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 195 0 0.00 128 32 20.00 18 0 0.00 23 3 11.54 KLK13 0 genome.wustl.edu 37 19 51560014 51560014 + Missense_Mutation SNP G G C TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 19 51560014 51560014 G C SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known missense c.664 p.L222V 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 tier1 - - 37 0 0.00 25 15 37.50 38 0 0.00 23 4 13.33 ZNF267 0 genome.wustl.edu 37 16 31927606 31927606 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 16 31927606 31927606 G T SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.2036 p.R679L 0.086 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 ZNF267 HGNC ENSG00000185947 tier1 - - 40 0 0.00 34 5 12.82 47 0 0.00 52 15 22.39 BSDC1 0 genome.wustl.edu 37 1 32846818 32846818 + Missense_Mutation SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 1 32846818 32846818 C T SNP BSDC1 ENST00000341071 human ensembl 74_37 -1 known missense c.460 p.D154N 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 tier1 - - 51 0 0.00 49 7 12.50 121 0 0.00 103 18 14.63 MYH4 0 genome.wustl.edu 37 17 10347962 10347962 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 17 10347962 10347962 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.5626 p.Q1876K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 78 0 0.00 84 11 11.58 81 1 1.22 79 16 16.84 C4orf50 0 genome.wustl.edu 37 4 5990841 5990841 + Missense_Mutation SNP C C G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 4 5990841 5990841 C G SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.658 p.D220H 0.014 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 65 0 0.00 48 14 22.58 49 0 0.00 31 4 11.11 RSEK 0 genome.wustl.edu 37 17 6915970 6915970 + Missense_Mutation SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 17 6915970 6915970 C T SNP RSEK ENST00000548577 human ensembl 74_37 +1 known missense c.85 p.L29F 0.001 NULL NULL - no_errors RSEK HGNC ENSG00000219200 tier1 - - 107 0 0.00 71 42 37.17 48 0 0.00 28 19 40.43 FLRT3 0 genome.wustl.edu 37 20 14306856 14306856 + Missense_Mutation SNP T T C TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 20 14306856 14306856 T C SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.1297 p.M433V 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 tier1 rs201525960 - 28 0 0.00 16 17 51.52 99 0 0.00 68 39 36.11 TTN 0 genome.wustl.edu 37 2 179464295 179464295 + Missense_Mutation SNP C C G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 2 179464295 179464295 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.48629 p.R16210T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 47 0 0.00 48 11 18.64 112 0 0.00 116 14 10.77 CELF3 0 genome.wustl.edu 37 1 151679629 151679629 + Missense_Mutation SNP G G C TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 1 151679629 151679629 G C SNP CELF3 ENST00000290583 human ensembl 74_37 -1 known missense c.914 p.P305R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC ENSG00000159409 tier1 - - 40 0 0.00 36 5 12.20 37 0 0.00 57 12 17.39 WDR7 0 genome.wustl.edu 37 18 54423947 54423947 + Missense_Mutation SNP C C G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 18 54423947 54423947 C G SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.2123 p.S708C 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 49 0 0.00 37 12 24.49 118 0 0.00 72 13 15.29 ABCC10 0 genome.wustl.edu 37 6 43405672 43405672 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 6 43405672 43405672 G T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.1876 p.G626C 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 tier1 - - 68 0 0.00 61 9 12.86 62 1 1.59 61 12 16.44 NETO1 0 genome.wustl.edu 37 18 70450953 70450953 + Silent SNP T T A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 18 70450953 70450953 T A SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known silent c.828 p.R276 0.009 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 62 0 0.00 44 11 20.00 81 0 0.00 71 14 16.28 AMHR2 0 genome.wustl.edu 37 12 53818234 53818234 + Missense_Mutation SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 12 53818234 53818234 G A SNP AMHR2 ENST00000257863 human ensembl 74_37 +1 known missense c.212 p.R71Q 0.989 pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Activin_rcpt pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 tier1 - - 58 0 0.00 39 7 15.22 84 0 0.00 67 25 27.17 C1orf168 0 genome.wustl.edu 37 1 57185152 57185152 + R SNP T T G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 1 57185152 57185152 T G SNP C1orf168 ENST00000493000 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf168 HGNC ENSG00000187889 tier1 - - 28 0 0.00 22 11 33.33 67 0 0.00 54 16 22.86 MCM7 0 genome.wustl.edu 37 7 99697360 99697360 + Missense_Mutation SNP C C A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 7 99697360 99697360 C A SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known missense c.128 p.R43L 1.000 superfamily_-bd_OB-fold pfam_MCM_D-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_D-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_D-dep_ATPase,prints_MCM_D-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 tier1 - - 55 0 0.00 45 7 13.46 74 0 0.00 73 12 14.12 ABCB11 0 genome.wustl.edu 37 2 169820724 169820724 + Missense_Mutation SNP C C A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 2 169820724 169820724 C A SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.2170 p.D724Y 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 tier1 - - 37 0 0.00 35 6 14.63 98 0 0.00 68 40 37.04 HYDIN 0 genome.wustl.edu 37 16 70863604 70863604 + Missense_Mutation SNP T T A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 16 70863604 70863604 T A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.14029 p.T4677S 0.293 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 68 0 0.00 49 24 32.43 55 0 0.00 26 14 35.00 SNX21 0 genome.wustl.edu 37 20 44469010 44469010 + R SNP A A G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 20 44469010 44469010 A G SNP SNX21 ENST00000465997 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNX21 HGNC ENSG00000124104 tier1 - - 79 0 0.00 31 46 59.74 66 0 0.00 28 34 54.84 LRRC16A 0 genome.wustl.edu 37 6 25606292 25606292 + Missense_Mutation SNP C C G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 6 25606292 25606292 C G SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3638 p.P1213R 0.998 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 55 0 0.00 29 11 26.83 90 0 0.00 70 16 18.60 OR51G1 0 genome.wustl.edu 37 11 4944762 4944762 + Silent SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 11 4944762 4944762 G A SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known silent c.808 p.L270 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 tier1 - - 50 0 0.00 76 16 17.39 77 0 0.00 106 16 13.11 MGAM 0 genome.wustl.edu 37 7 141730510 141730510 + Missense_Mutation SNP A A G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 7 141730510 141730510 A G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.1423 p.K475E 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 57 0 0.00 36 10 21.74 96 0 0.00 54 21 28.00 RD3 0 genome.wustl.edu 37 1 211654609 211654609 + Missense_Mutation SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 1 211654609 211654609 G A SNP RD3 ENST00000367002 human ensembl 74_37 -1 known missense c.149 p.A50V 0.427 NULL NULL - no_errors RD3 HGNC ENSG00000198570 tier1 - - 33 0 0.00 11 11 50.00 37 0 0.00 21 11 34.38 OPA1 0 genome.wustl.edu 37 3 193361213 193361213 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 3 193361213 193361213 G T SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.1357 p.D453Y 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 tier1 - - 23 0 0.00 25 4 13.79 80 1 1.23 61 14 18.67 TTC28 0 genome.wustl.edu 37 22 28394729 28394729 + Missense_Mutation SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 22 28394729 28394729 C T SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel missense c.4918 p.A1640T 0.997 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 40 0 0.00 54 11 16.92 14 0 0.00 32 5 13.51 DQX1 0 genome.wustl.edu 37 2 74750508 74750508 + Missense_Mutation SNP A A C TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 2 74750508 74750508 A C SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.973 p.W325G 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 tier1 - - 62 0 0.00 73 11 13.10 111 0 0.00 102 17 14.29 SIGLEC17P 0 genome.wustl.edu 37 19 51675387 51675387 + R SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 19 51675387 51675387 G A SNP SIGLEC17P ENST00000341811 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SIGLEC17P HGNC ENSG00000171101 tier1 - - 166 0 0.00 165 19 10.33 122 0 0.00 124 19 13.29 UPF2 0 genome.wustl.edu 37 10 12071314 12071314 + Missense_Mutation SNP T T A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 10 12071314 12071314 T A SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.575 p.D192V 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 tier1 - - 70 0 0.00 54 22 28.95 118 0 0.00 73 37 33.64 TTC39A 0 genome.wustl.edu 37 1 51787459 51787459 + Missense_Mutation SNP C C G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 1 51787459 51787459 C G SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.83 p.C28S 1.000 NULL pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 tier1 - - 76 0 0.00 54 16 22.86 44 0 0.00 31 9 22.50 SH3PXD2B 0 genome.wustl.edu 37 5 171809057 171809057 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 5 171809057 171809057 G T SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known missense c.384 p.D128E 1.000 superfamily_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 tier1 - - 56 0 0.00 59 9 13.24 50 0 0.00 31 9 22.50 AK8 0 genome.wustl.edu 37 9 135668027 135668027 + Missense_Mutation SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 9 135668027 135668027 G A SNP AK8 ENST00000298545 human ensembl 74_37 -1 known missense c.1115 p.P372L 1.000 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 tier1 - - 64 0 0.00 44 15 25.42 17 0 0.00 17 4 19.05 MMP3 0 genome.wustl.edu 37 11 102714172 102714172 + Splice_Site SNP C C A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 11 102714172 102714172 C A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known splice_site c.105+1 e1+1 1.000 - - - no_errors MMP3 HGNC ENSG00000149968 tier1 - - 74 0 0.00 59 11 15.71 81 0 0.00 40 10 20.00 PHLDB1 0 genome.wustl.edu 37 11 118509660 118509660 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 11 118509660 118509660 G T SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.2587 p.V863L 0.839 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 tier1 - - 104 0 0.00 90 8 8.16 39 0 0.00 43 7 14.00 FUT9 0 genome.wustl.edu 37 6 96651911 96651911 + Missense_Mutation SNP T T A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 6 96651911 96651911 T A SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.880 p.S294T 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 tier1 - - 20 0 0.00 26 6 18.75 91 0 0.00 111 16 12.60 MYO18B 0 genome.wustl.edu 37 22 26176054 26176054 + Silent SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 22 26176054 26176054 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known silent c.2100 p.L700 0.843 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tR-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 77 0 0.00 64 43 40.19 31 0 0.00 25 14 35.90 PLB1 0 genome.wustl.edu 37 2 28812626 28812626 + Missense_Mutation SNP T T A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 2 28812626 28812626 T A SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.1972 p.W658R 1.000 NULL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 tier1 - - 22 0 0.00 16 6 27.27 39 0 0.00 40 13 24.53 ZNF267 0 genome.wustl.edu 37 16 31927605 31927605 + Silent SNP C C A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 16 31927605 31927605 C A SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known silent c.2035 p.R679 0.090 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 ZNF267 HGNC ENSG00000185947 tier1 - - 40 0 0.00 34 5 12.82 44 0 0.00 51 15 22.73 CAC1C 0 genome.wustl.edu 37 12 2224604 2224604 + Missense_Mutation SNP A A T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 12 2224604 2224604 A T SNP CAC1C ENST00000399634 human ensembl 74_37 +1 known missense c.264 p.K88N 0.697 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1C HGNC ENSG00000151067 tier1 - - 66 0 0.00 68 7 9.09 37 0 0.00 40 7 14.89 CHAF1A 0 genome.wustl.edu 37 19 4442306 4442306 + Missense_Mutation SNP A A C TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 19 4442306 4442306 A C SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.2738 p.D913A 1.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 - - 68 0 0.00 68 7 9.33 23 0 0.00 28 8 22.22 ZNF311 0 genome.wustl.edu 37 6 28963898 28963898 + Missense_Mutation SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 6 28963898 28963898 C T SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known missense c.881 p.R294Q 0.864 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 ZNF311 HGNC ENSG00000197935 tier1 - - 59 0 0.00 67 8 10.67 123 0 0.00 99 20 16.81 MYO5B 0 genome.wustl.edu 37 18 47421361 47421361 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 18 47421361 47421361 G T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.2995 p.R999S 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 75 0 0.00 48 5 9.43 27 0 0.00 23 5 17.86 PTPRU 0 genome.wustl.edu 37 1 29587188 29587188 + Missense_Mutation SNP T T A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 1 29587188 29587188 T A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.917 p.L306H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 85 0 0.00 66 9 12.00 23 0 0.00 20 3 13.04 FLRT3 0 genome.wustl.edu 37 20 14307796 14307796 + Silent SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 20 14307796 14307796 G A SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known silent c.357 p.I119 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 tier1 - - 44 0 0.00 43 9 17.31 108 0 0.00 88 17 16.19 LAIR2 0 genome.wustl.edu 37 19 55019149 55019149 + Silent SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 19 55019149 55019149 G T SNP LAIR2 ENST00000301202 human ensembl 74_37 +1 known silent c.114 p.V38 0.003 smart_Ig_sub smart_Ig_sub - no_errors LAIR2 HGNC ENSG00000167618 tier1 - - 30 0 0.00 43 5 10.42 16 0 0.00 17 3 15.00 ASAP1 0 genome.wustl.edu 37 8 131149206 131149206 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 8 131149206 131149206 G T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.1159 p.L387M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 tier1 - - 55 0 0.00 54 5 8.47 134 0 0.00 139 17 10.90 NPAS3 0 genome.wustl.edu 37 14 33836422 33836422 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 14 33836422 33836422 G T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.416 p.S139I 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 50 0 0.00 29 7 19.44 85 0 0.00 57 13 18.57 DH14 0 genome.wustl.edu 37 1 225586340 225586340 + Missense_Mutation SNP T T A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 1 225586340 225586340 T A SNP DH14 ENST00000430092 human ensembl 74_37 +1 known missense c.13304 p.F4435Y 0.976 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DH14 HGNC ENSG00000185842 tier1 - - 40 0 0.00 46 5 9.80 90 0 0.00 92 22 19.13 TRDN 0 genome.wustl.edu 37 6 123687301 123687301 + Missense_Mutation SNP C C A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 6 123687301 123687301 C A SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.1300 p.G434C 0.315 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 - - 62 0 0.00 72 9 11.11 131 0 0.00 93 21 18.42 SLITRK3 0 genome.wustl.edu 37 3 164908086 164908086 + Missense_Mutation SNP A A T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 3 164908086 164908086 A T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.533 p.L178Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 35 0 0.00 20 10 33.33 146 0 0.00 128 28 17.95 NLRP5 0 genome.wustl.edu 37 19 56530761 56530761 + Missense_Mutation SNP C C A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 19 56530761 56530761 C A SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.619 p.Q207K 0.266 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 tier1 - - 59 0 0.00 49 19 27.94 94 0 0.00 66 26 28.26 FCGBP 0 genome.wustl.edu 37 19 40392869 40392869 + Silent SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 19 40392869 40392869 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.7635 p.N2545 0.003 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 45 0 0.00 44 9 16.98 13 0 0.00 11 4 26.67 MAP3K19 0 genome.wustl.edu 37 2 135757570 135757570 + Missense_Mutation SNP A A G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 2 135757570 135757570 A G SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.251 p.V84A 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 tier1 - - 44 0 0.00 40 4 9.09 138 0 0.00 103 14 11.97 UTY 0 genome.wustl.edu 37 Y 15591265 15591265 + R SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a Y 15591265 15591265 C T SNP UTY ENST00000474365 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors UTY HGNC ENSG00000183878 tier1 - - 11 0 0.00 4 5 55.56 19 0 0.00 8 9 52.94 PDIA2 0 genome.wustl.edu 37 16 335673 335673 + Silent SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 16 335673 335673 C T SNP PDIA2 ENST00000219406 human ensembl 74_37 +1 known silent c.1089 p.F363 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 tier1 - - 77 0 0.00 65 14 17.72 70 0 0.00 57 5 8.06 GUCY2C 0 genome.wustl.edu 37 12 14827569 14827569 + Silent SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 12 14827569 14827569 G A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known silent c.1074 p.L358 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 tier1 - - 86 0 0.00 100 18 15.00 109 0 0.00 108 4 3.57 PCLO 0 genome.wustl.edu 37 7 82474639 82474639 + Missense_Mutation SNP G G T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 7 82474639 82474639 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13994 p.P4665H 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 111 0 0.00 83 10 10.53 66 0 0.00 60 6 9.09 MUC16 0 genome.wustl.edu 37 19 9091072 9091072 + Missense_Mutation SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 19 9091072 9091072 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.743 p.S248F 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 63 0 0.00 50 9 15.25 119 1 0.83 140 12 7.89 CHD7 0 genome.wustl.edu 37 8 61743078 61743078 + Missense_Mutation SNP C C G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 8 61743078 61743078 C G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.3720 p.N1240K 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 42 0 0.00 47 7 12.96 80 0 0.00 119 5 4.03 CHM 0 genome.wustl.edu 37 X 85118101 85118101 + Splice_Site DEL T T - TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a X 85118101 85118101 T - DEL CHM ENST00000467744 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 0.003 - - - no_errors CHM HGNC ENSG00000188419 tier1 24 0 0.00 21 4 16.00 6 0 0.00 5 1 16.67 ENSG00000185710 0 genome.wustl.edu 37 16 21896553 21896553 + R SNP C C G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 16 21896553 21896553 C G SNP ENSG00000185710 ENST00000380598 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-645C24.2 Clone_based_vega_gene ENSG00000185710 tier1 - - 114 0 0.00 85 14 14.14 6 0 0.00 5 0 0.00 GAPVD1 0 genome.wustl.edu 37 9 128025963 128025989 + Splice_Site DEL CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT - TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 9 128025963 128025989 CAGCACTCCATCTGTAGGTATGTCTGT - DEL GAPVD1 ENST00000469528 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 1.000:1.000:1.000:1.000:1.000:0.999:0.996:0.980:0.970:0.963:0.961:0.959:0.952:0.948:0.947:0.950:0.961:0.966:0.966:0.969:0.974:0.982:0.984:0.985:0.984:0.985:0.993 - - - no_errors GAPVD1 HGNC ENSG00000165219 tier1 6 0 0.00 6 1 14.29 6 0 0.00 6 1 14.29 TOPORS-AS1 0 genome.wustl.edu 37 9 32552413 32552413 + R SNP A A G TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 9 32552413 32552413 A G SNP TOPORS-AS1 ENST00000425533 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TOPORS-AS1 HGNC ENSG00000235453 tier1 - - 46 0 0.00 33 6 15.38 11 0 0.00 6 0 0.00 DSPP 0 genome.wustl.edu 37 4 88536934 88536934 + Silent SNP C C T TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 4 88536934 88536934 C T SNP DSPP ENST00000282478 human ensembl 74_37 +1 known silent c.3120 p.S1040 0.968 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 rs200948555 - 46 0 0.00 38 9 19.15 4 0 0.00 3 1 25.00 ENSG00000215941 0 genome.wustl.edu 37 3 38948879 38948880 + R INS - - CT TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 3 38948879 38948880 - CT INS ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.002 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 19 0 0.00 18 6 25.00 0 0 0.00 0 0 0.00 ZSCAN10 0 genome.wustl.edu 37 16 3139121 3139121 + Missense_Mutation SNP G G A TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 16 3139121 3139121 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.2149 p.R717C 0.988 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 tier1 - - 26 0 0.00 21 4 16.00 2 0 0.00 4 1 20.00 SPHKAP 0 genome.wustl.edu 37 2 228883839 228883839 + Frame_Shift_Del DEL T T - TCGA-DX-A1KU-01A-32D-A24N-09 TCGA-DX-A1KU-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c556f81b-8a6c-4bbb-876f-2e2ce570c185 82655523-70c2-4b8d-83cd-bf3dfa800b4a 2 228883839 228883839 T - DEL SPHKAP ENST00000392056 human ensembl 74_37 -1 known frame_shift_del c.1731 p.E578fs 0.397 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 34 0 0.00 24 6 20.00 50 0 0.00 50 3 5.66