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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AMOTL2 0 genome.wustl.edu 37 3 134089691 134089692 + Frame_Shift_Ins INS - - G TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 3 134089691 134089692 - G INS AMOTL2 ENST00000249883 human ensembl 69_37n -1 known frame_shift_ins c.585_584 p.L196fs 0.000:0.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 15 0 0.00 8 2 20.00 - - - AP3B1 0 genome.wustl.edu 37 5 77458675 77458675 + Missense_Mutation SNP T T C TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 5 77458675 77458675 T C SNP AP3B1 ENST00000255194 human ensembl 69_37n -1 known missense c.1331 p.N444S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu - no_errors AP3B1 HGNC ENSG00000132842 209 0 0.00 277 48 14.77 - - - APEX1 0 genome.wustl.edu 37 14 20923818 20923818 + Missense_Mutation SNP G G C TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 14 20923818 20923818 G C SNP APEX1 ENST00000216714 human ensembl 69_37n +1 known missense c.14 p.G5A 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX1 HGNC ENSG00000100823 374 0 0.00 245 103 29.60 - - - ARHGEF5 0 genome.wustl.edu 37 7 144061204 144061204 + Missense_Mutation SNP A A G TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 7 144061204 144061204 A G SNP ARHGEF5 ENST00000056217 human ensembl 69_37n +1 known missense c.1442 p.Q481R 0.025 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 8 0 0.00 0 3 100.00 - - - BRD8 0 genome.wustl.edu 37 5 137506082 137506082 + Missense_Mutation SNP C C T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 5 137506082 137506082 C T SNP BRD8 ENST00000254900 human ensembl 69_37n -1 known missense c.457 p.E153K 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 161 0 0.00 121 62 33.88 - - - C18orf34 0 genome.wustl.edu 37 18 30554604 30554604 + Missense_Mutation SNP C C A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 18 30554604 30554604 C A SNP C18orf34 ENST00000406524 human ensembl 69_37n -1 known missense c.2502 p.E834D 0.999 NULL NULL - no_errors C18orf34 HGNC ENSG00000166960 68 0 0.00 44 9 16.98 - - - CD7 0 genome.wustl.edu 37 17 80274159 80274160 + Frame_Shift_Ins INS - - T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 17 80274159 80274160 - T INS CD7 ENST00000312648 human ensembl 69_37n -1 known frame_shift_ins c.524_523 p.A175fs 0.004:0.023 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD7 HGNC ENSG00000173762 21 0 0.00 10 3 23.08 - - - CLDN17 0 genome.wustl.edu 37 21 31538360 31538360 + Missense_Mutation SNP C C A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 21 31538360 31538360 C A SNP CLDN17 ENST00000286808 human ensembl 69_37n -1 known missense c.576 p.K192N 0.000 prints_Claudin8 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 447 0 0.00 236 64 21.33 - - - CYP27A1 0 genome.wustl.edu 37 2 219674428 219674428 + Silent SNP C C T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 2 219674428 219674428 C T SNP CYP27A1 ENST00000258415 human ensembl 69_37n +1 known silent c.384 p.N128 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 160 0 0.00 87 34 28.10 - - - DOK5 0 genome.wustl.edu 37 20 53205225 53205225 + Splice_Site SNP G G T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 20 53205225 53205225 G T SNP DOK5 ENST00000262593 human ensembl 69_37n +1 known splice_site c.290-1 e4-1 1.000 - - - no_errors DOK5 HGNC ENSG00000101134 315 0 0.00 330 57 14.73 - - - ENSG00000226232 0 genome.wustl.edu 37 16 70010517 70010519 + In_Frame_Del DEL TGT TGT - TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 16 70010517 70010519 TGT - DEL ENSG00000226232 ENST00000532298 human ensembl 69_37n -1 novel in_frame_del c.761_759 p.Q253in_frame_del 0.600:0.610:0.620 pfam_NPIP pfam_NPIP - no_errors RP11-419C5.2 Clone_based_vega_gene ENSG00000226232 13 0 0.00 4 2 33.33 - - - FAM208A 0 genome.wustl.edu 37 3 56667624 56667624 + Missense_Mutation SNP T T C TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 3 56667624 56667624 T C SNP FAM208A ENST00000355628 human ensembl 69_37n -1 known missense c.3012 p.I1004M 0.996 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 123 0 0.00 82 39 32.23 - - - FKBP1B 0 genome.wustl.edu 37 2 24285915 24285915 + Silent SNP C C A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 2 24285915 24285915 C A SNP FKBP1B ENST00000380991 human ensembl 69_37n +1 known silent c.225 p.I75 0.998 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP1B HGNC ENSG00000119782 156 0 0.00 131 26 16.56 - - - GABRG2 0 genome.wustl.edu 37 5 161576155 161576155 + Missense_Mutation SNP G G T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 5 161576155 161576155 G T SNP GABRG2 ENST00000356592 human ensembl 69_37n +1 known missense c.964 p.A322S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,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_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 336 0 0.00 301 39 11.44 - - - KALRN 0 genome.wustl.edu 37 3 124431854 124431855 + Frame_Shift_Ins INS - - A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 3 124431854 124431855 - A INS KALRN ENST00000360013 human ensembl 69_37n +1 known frame_shift_ins c.8148_8149 p.M2718fs 1.000:1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 128 0 0.00 138 18 11.54 - - - KCNC3 0 genome.wustl.edu 37 19 50827193 50827193 + Silent SNP G G A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 19 50827193 50827193 G A SNP KCNC3 ENST00000477616 human ensembl 69_37n -1 known silent c.1017 p.N339 0.216 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 102 0 0.00 65 12 15.58 - - - KRT12 0 genome.wustl.edu 37 17 39022941 39022941 + Silent SNP A A G TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 17 39022941 39022941 A G SNP KRT12 ENST00000251643 human ensembl 69_37n -1 known silent c.498 p.T166 0.002 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 67 0 0.00 48 18 26.87 - - - LAMB3 0 genome.wustl.edu 37 1 209806016 209806016 + Missense_Mutation SNP C C T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 1 209806016 209806016 C T SNP LAMB3 ENST00000356082 human ensembl 69_37n -1 known missense c.734 p.R245H 0.938 smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 141 0 0.00 132 21 13.73 - - - LRFN5 0 genome.wustl.edu 37 14 42361011 42361011 + Silent SNP C C A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 14 42361011 42361011 C A SNP LRFN5 ENST00000298119 human ensembl 69_37n +1 known silent c.1944 p.G648 0.315 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC ENSG00000165379 129 0 0.00 118 20 14.49 - - - MAGED1 0 genome.wustl.edu 37 X 51638306 51638306 + Missense_Mutation SNP C C T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 X 51638306 51638306 C T SNP MAGED1 ENST00000375695 human ensembl 69_37n +1 known missense c.371 p.S124L 0.904 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 52 0 0.00 16 6 27.27 - - - PCDHB5 0 genome.wustl.edu 37 5 140516085 140516085 + Nonsense_Mutation SNP G G T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 5 140516085 140516085 G T SNP PCDHB5 ENST00000231134 human ensembl 69_37n +1 known nonsense c.1069 p.E357* 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 120 0 0.00 129 26 16.77 - - - PDCD1 0 genome.wustl.edu 37 2 242794881 242794881 + Missense_Mutation SNP C C T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 2 242794881 242794881 C T SNP PDCD1 ENST00000334409 human ensembl 69_37n -1 known missense c.328 p.V110M 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PDCD1 HGNC ENSG00000188389 40 0 0.00 8 6 42.86 - - - RNF34 0 genome.wustl.edu 37 12 121855406 121855406 + Frame_Shift_Del DEL G G - TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 12 121855406 121855406 G - DEL RNF34 ENST00000392465 human ensembl 69_37n +1 known frame_shift_del c.328 p.A110fs 0.997 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF34 HGNC ENSG00000170633 101 0 0.00 120 56 31.82 - - - RSPH6A 0 genome.wustl.edu 37 19 46307978 46307978 + Silent SNP G G A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 19 46307978 46307978 G A SNP RSPH6A ENST00000221538 human ensembl 69_37n -1 known silent c.1185 p.D395 0.998 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 92 0 0.00 76 18 18.75 - - - RUNX1 0 genome.wustl.edu 37 21 36252994 36252995 + Frame_Shift_Ins INS - - CC TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 21 36252994 36252995 - CC INS RUNX1 ENST00000300305 human ensembl 69_37n -1 known frame_shift_ins c.368_367 p.D123fs 0.999:1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 128 0 0.00 62 32 34.04 - - - SHANK1 0 genome.wustl.edu 37 19 51189556 51189556 + Missense_Mutation SNP G G A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 19 51189556 51189556 G A SNP SHANK1 ENST00000391814 human ensembl 69_37n -1 known missense c.2539 p.P847S 0.994 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 187 0 0.00 156 21 11.73 - - - SLC39A13 0 genome.wustl.edu 37 11 47431811 47431812 + Frame_Shift_Ins INS - - G TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 11 47431811 47431812 - G INS SLC39A13 ENST00000362021 human ensembl 69_37n +1 known frame_shift_ins c.166_167 p.A58fs 1.000:1.000 NULL pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 84 0 0.00 27 3 10.00 - - - SPOCK1 0 genome.wustl.edu 37 5 136314405 136314405 + Missense_Mutation SNP C C T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 5 136314405 136314405 C T SNP SPOCK1 ENST00000282223 human ensembl 69_37n -1 known missense c.1258 p.V420M 0.273 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 353 0 0.00 435 51 10.49 - - - SPTBN4 0 genome.wustl.edu 37 19 40996086 40996086 + Silent SNP G G A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 19 40996086 40996086 G A SNP SPTBN4 ENST00000352632 human ensembl 69_37n +1 known silent c.426 p.S142 0.067 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 269 0 0.00 258 34 11.64 - - - SUSD5 0 genome.wustl.edu 37 3 33194254 33194254 + Missense_Mutation SNP T T A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 3 33194254 33194254 T A SNP SUSD5 ENST00000309558 human ensembl 69_37n -1 known missense c.1870 p.I624F 1.000 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 186 0 0.00 98 56 36.36 - - - TNFSF15 0 genome.wustl.edu 37 9 117553070 117553070 + Silent SNP G G A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 9 117553070 117553070 G A SNP TNFSF15 ENST00000374045 human ensembl 69_37n -1 known silent c.418 p.L140 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c - no_errors TNFSF15 HGNC ENSG00000181634 305 0 0.00 146 24 14.12 - - - TTC39B 0 genome.wustl.edu 37 9 15177715 15177715 + Silent SNP A A G TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 9 15177715 15177715 A G SNP TTC39B ENST00000512701 human ensembl 69_37n -1 known silent c.1821 p.C607 1.000 smart_TPR_repeat pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 162 0 0.00 114 26 18.57 - - - VWA3A 0 genome.wustl.edu 37 16 22159556 22159556 + Silent SNP C C T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 16 22159556 22159556 C T SNP VWA3A ENST00000389398 human ensembl 69_37n +1 known silent c.2913 p.G971 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 214 0 0.00 154 33 17.55 - - - ZC3H15 0 genome.wustl.edu 37 2 187371487 187371487 + Silent SNP C C T TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 2 187371487 187371487 C T SNP ZC3H15 ENST00000337859 human ensembl 69_37n +1 known silent c.1014 p.I338 0.993 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 86 0 0.00 43 31 41.89 - - - ZFPM2 0 genome.wustl.edu 37 8 106813892 106813892 + Missense_Mutation SNP C C A TCGA-A8-A0A2-01A-11W-A050-09 TCGA-A8-A0A2-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b681dba3-a608-47c2-9ae8-5d761d1e800e 74e986b0-8284-4f30-8bbd-6132f40ed403 8 106813892 106813892 C A SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.1582 p.L528M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 31 0 0.00 40 7 14.89 - - -