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 AMY2A 0 genome.wustl.edu 37 1 104162336 104162336 + Missense_Mutation SNP T T G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 104162336 104162336 T G SNP AMY2A ENST00000414303 human ensembl 74_37 +1 known missense c.674 p.I225S 0.954 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 92 0 0 47 4 7.84314 SLC6A17 0 genome.wustl.edu 37 1 110741056 110741056 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 110741056 110741056 C T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.2174 p.S725L 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 114 0 0 55 15 21.4286 PRAMEF11 0 genome.wustl.edu 37 1 12885133 12885133 + Silent SNP T T C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 12885133 12885133 T C SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known silent c.978 p.Q326 0.020 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 150 0 0 98 17 14.7826 POGZ 0 genome.wustl.edu 37 1 151378545 151378545 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 151378545 151378545 G A SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.2966 p.T989I 0.772 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 103 0 0 45 28 38.3562 FLG 0 genome.wustl.edu 37 1 152281969 152281969 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 152281969 152281969 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5393 p.R1798Q 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 654 1 0.152672 394 34 7.94393 INSRR 0 genome.wustl.edu 37 1 156823679 156823679 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 156823679 156823679 C T SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.502 p.V168M 0.997 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 53 0 0 24 6 20 CACNA1E 0 genome.wustl.edu 37 1 181724429 181724429 + Silent SNP G G C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 181724429 181724429 G C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.3885 p.V1295 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 116 0 0 96 12 11.1111 HMCN1 0 genome.wustl.edu 37 1 185958651 185958651 + Missense_Mutation SNP A A C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 185958651 185958651 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.3080 p.K1027T 0.787 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 124 0 0 66 19 22.3529 LRRN2 0 genome.wustl.edu 37 1 204587730 204587730 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 204587730 204587730 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.1391 p.R464Q 0.995 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 82 0 0 40 4 9.09091 E2F2 0 genome.wustl.edu 37 1 23845525 23845525 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 23845525 23845525 C T SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known missense c.835 p.V279M 1.000 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 84 0 0 47 6 11.3208 MRPS15 0 genome.wustl.edu 37 1 36921446 36921446 + Silent SNP C C G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 1 36921446 36921446 C G SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known silent c.717 p.R239 0.000 NULL pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 180 0 0 97 17 14.9123 INA 0 genome.wustl.edu 37 10 105037351 105037351 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 10 105037351 105037351 C T SNP INA ENST00000369849 human ensembl 74_37 +1 known missense c.383 p.A128V 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 26 0 0 6 4 40 RGS10 0 genome.wustl.edu 37 10 121285598 121285598 + Silent SNP A A G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 10 121285598 121285598 A G SNP RGS10 ENST00000369103 human ensembl 74_37 -1 known silent c.201 p.N67 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS10 HGNC ENSG00000148908 136 0 0 55 6 9.83607 CDH23 0 genome.wustl.edu 37 10 73537641 73537641 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 10 73537641 73537641 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5065 p.R1689C 0.397 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 57 0 0 22 6 21.4286 C11orf58 0 genome.wustl.edu 37 11 16776574 16776574 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 11 16776574 16776574 G A SNP C11orf58 ENST00000228136 human ensembl 74_37 +1 known missense c.475 p.E159K 1.000 NULL NULL - no_errors C11orf58 HGNC ENSG00000110696 135 0 0 92 8 8 DCHS1 0 genome.wustl.edu 37 11 6652092 6652092 + Silent SNP C C G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 11 6652092 6652092 C G SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.3933 p.V1311 0.960 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 13 0 0 2 2 50 TMEM52B 0 genome.wustl.edu 37 12 10339108 10339108 + Missense_Mutation SNP G G T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 12 10339108 10339108 G T SNP TMEM52B ENST00000381923 human ensembl 74_37 +1 known missense c.227 p.G76V 0.513 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 121 1 0.819672 45 9 16.6667 PRB3 0 genome.wustl.edu 37 12 11420206 11420206 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 12 11420206 11420206 C T SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.850 p.A284T 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 216 0 0 136 9 6.2069 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 119 1 0.833333 16 47 74.6032 CD163 0 genome.wustl.edu 37 12 7640475 7640475 + Missense_Mutation SNP T T G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 12 7640475 7640475 T G SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1629 p.E543D 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 118 0 0 63 12 16 N4BP2L2 0 genome.wustl.edu 37 13 33016566 33016566 + Missense_Mutation SNP A A T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 13 33016566 33016566 A T SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known missense c.2108 p.F703Y 0.261 NULL superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 22 0 0 18 3 14.2857 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36748951 36748951 + Missense_Mutation SNP C C G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 13 36748951 36748951 C G SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.928 p.G310R 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 82 0 0 60 4 6.25 KLF5 0 genome.wustl.edu 37 13 73649903 73649903 + Missense_Mutation SNP A A G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 13 73649903 73649903 A G SNP KLF5 ENST00000377687 human ensembl 74_37 +1 known missense c.1253 p.D418G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 102 1 0.970874 45 12 21.0526 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 114 1 0.869565 30 30 50 RYR3 0 genome.wustl.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 15 33962623 33962623 T G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.5726 p.V1909G 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 50 0 0 14 11 44 SQRDL 0 genome.wustl.edu 37 15 45968443 45968443 + Missense_Mutation SNP C C G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 15 45968443 45968443 C G SNP SQRDL ENST00000260324 human ensembl 74_37 +1 known missense c.799 p.R267G 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors SQRDL HGNC ENSG00000137767 267 1 0.373134 104 20 16.129 SLC12A1 0 genome.wustl.edu 37 15 48500152 48500152 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 15 48500152 48500152 C T SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.236 p.T79I 0.897 NULL pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 78 0 0 58 9 13.4328 LOC645752 0 genome.wustl.edu 37 15 78212571 78212571 + RNA SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 15 78212571 78212571 G A SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 39 0 0 25 7 21.875 BNC1 0 genome.wustl.edu 37 15 83935703 83935703 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 15 83935703 83935703 C T SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.320 p.R107H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 115 0 0 57 9 13.6364 BNC1 0 genome.wustl.edu 37 15 83936914 83936914 + Missense_Mutation SNP T T A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 15 83936914 83936914 T A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.170 p.D57V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 99 0 0 48 6 11.1111 PKD1 0 genome.wustl.edu 37 16 2160623 2160623 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 16 2160623 2160623 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.4545 p.H1515 0.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 91 0 0 33 9 21.4286 ITGAD 0 genome.wustl.edu 37 16 31424208 31424208 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 16 31424208 31424208 C T SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.1757 p.A586V 0.975 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 140 0 0 65 7 9.72222 SLX4 0 genome.wustl.edu 37 16 3639156 3639156 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 16 3639156 3639156 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.4483 p.A1495T 0.005 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 321 0 0 141 15 9.61538 CDH11 0 genome.wustl.edu 37 16 65038662 65038662 + Silent SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 16 65038662 65038662 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known silent c.111 p.G37 0.985 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 26 0 0 7 3 30 NOS2 0 genome.wustl.edu 37 17 26097998 26097998 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 26097998 26097998 G A SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.1750 p.R584W 0.997 pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 49 0 0 24 5 17.2414 RARA 0 genome.wustl.edu 37 17 38498886 38498886 + RNA SNP C C A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 38498886 38498886 C A SNP RARA ENST00000579727 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors RARA HGNC ENSG00000131759 25 0 0 22 2 8.33333 JUP 0 genome.wustl.edu 37 17 39779266 39779266 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 39779266 39779266 C T SNP JUP ENST00000540235 human ensembl 74_37 -1 known missense c.928 p.D310N 0.999 pfam_IF pfam_IF,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 158 0 0 39 15 27.7778 MTMR4 0 genome.wustl.edu 37 17 56572740 56572740 + Silent SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 56572740 56572740 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known silent c.2763 p.E921 0.996 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 143 0 0 76 10 11.6279 TBC1D3P2 0 genome.wustl.edu 37 17 60342186 60342186 + RNA SNP T T C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 60342186 60342186 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 23 0 0 17 3 15 TBC1D3P2 0 genome.wustl.edu 37 17 60342197 60342197 + RNA SNP T T C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 60342197 60342197 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.153 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 27 0 0 20 3 13.0435 MRC2 0 genome.wustl.edu 37 17 60744158 60744158 + Missense_Mutation SNP G G T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 60744158 60744158 G T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.900 p.L300F 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 82 0 0 21 15 41.6667 EIF5A 0 genome.wustl.edu 37 17 7212989 7212989 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 7212989 7212989 C T SNP EIF5A ENST00000336452 human ensembl 74_37 +1 known missense c.125 p.A42V 1.000 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A HGNC ENSG00000132507 277 1 0.359712 103 12 10.4348 GPS2 0 genome.wustl.edu 37 17 7217635 7217635 + Nonsense_Mutation SNP C C A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 7217635 7217635 C A SNP GPS2 ENST00000380728 human ensembl 74_37 -1 known nonsense c.292 p.E98* 1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 219 1 0.454545 114 6 5 POLR2A 0 genome.wustl.edu 37 17 7411775 7411775 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 7411775 7411775 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.3446 p.R1149Q 0.998 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 14 0 0 9 2 18.1818 GLP2R 0 genome.wustl.edu 37 17 9763299 9763299 + Missense_Mutation SNP A A G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 9763299 9763299 A G SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.806 p.Y269C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 84 0 0 34 7 17.0732 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 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 142 1 0.699301 32 35 52.2388 ATP8B3 0 genome.wustl.edu 37 19 1785665 1785665 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 19 1785665 1785665 C T SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.3226 p.V1076M 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 39 0 0 10 3 23.0769 CEP89 0 genome.wustl.edu 37 19 33450824 33450824 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 19 33450824 33450824 G A SNP CEP89 ENST00000305768 human ensembl 74_37 -1 known missense c.287 p.T96I 0.000 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 59 0 0 32 2 5.88235 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 203 0 0 64 25 28.0899 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 364 0 0 165 14 7.82123 PEG3 0 genome.wustl.edu 37 19 57335705 57335705 + Nonsense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 19 57335705 57335705 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known nonsense c.319 p.R107* 0.792 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 PEG3 HGNC ENSG00000198300 130 0 0 62 22 26.1905 MYO1F 0 genome.wustl.edu 37 19 8613192 8613192 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 19 8613192 8613192 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1111 p.R371C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 64 0 0 26 9 25.7143 ZNF426 0 genome.wustl.edu 37 19 9646889 9646889 + Missense_Mutation SNP G G T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 19 9646889 9646889 G T SNP ZNF426 ENST00000253115 human ensembl 74_37 -1 known missense c.20 p.S7Y 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 90 0 0 30 8 21.0526 CNTNAP5 0 genome.wustl.edu 37 2 125204448 125204448 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 2 125204448 125204448 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.852 p.T284 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 118 0 0 46 9 16.3636 ACVR2A 0 genome.wustl.edu 37 2 148657057 148657057 + Silent SNP T T C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 2 148657057 148657057 T C SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known silent c.294 p.P98 1.000 pfam_Activin_rcpt,prints_TGFB_receptor 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,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 155 0 0 69 29 29.5918 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 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 104 0 0 34 47 58.0247 COL4A3 0 genome.wustl.edu 37 2 228128561 228128561 + Nonsense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 2 228128561 228128561 C T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known nonsense c.1216 p.R406* 0.001 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 57 0 0 22 14 38.8889 GRIK1 0 genome.wustl.edu 37 21 31062214 31062214 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 21 31062214 31062214 G A SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known silent c.378 p.L126 0.017 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 196 0 0 120 27 18.3673 TIAM1 0 genome.wustl.edu 37 21 32638956 32638956 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 21 32638956 32638956 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.333 p.S111 0.822 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 106 0 0 58 21 26.5823 PIWIL3 0 genome.wustl.edu 37 22 25130080 25130080 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 22 25130080 25130080 G A SNP PIWIL3 ENST00000332271 human ensembl 74_37 -1 known missense c.1678 p.R560W 0.006 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 50 0 0 44 3 6.38298 MTMR3 0 genome.wustl.edu 37 22 30398961 30398961 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 22 30398961 30398961 G A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.650 p.R217H 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 97 0 0 52 3 5.45455 HTR3C 0 genome.wustl.edu 37 3 183772605 183772605 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 183772605 183772605 G A SNP HTR3C ENST00000318351 human ensembl 74_37 +1 known missense c.164 p.R55H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC ENSG00000178084 131 0 0 78 6 7.14286 SATB1 0 genome.wustl.edu 37 3 18390823 18390823 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 18390823 18390823 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.2227 p.G743S 0.993 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 336 0 0 148 33 18.232 DYNC1LI1 0 genome.wustl.edu 37 3 32582626 32582626 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 32582626 32582626 G A SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.641 p.A214V 0.000 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 149 0 0 98 17 14.7826 SCN10A 0 genome.wustl.edu 37 3 38812885 38812885 + Missense_Mutation SNP C C A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 38812885 38812885 C A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.484 p.V162F 0.942 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 108 0 0 72 10 12.1951 SNRK 0 genome.wustl.edu 37 3 43389767 43389767 + Missense_Mutation SNP G G T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 43389767 43389767 G T SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.2016 p.L672F 0.198 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 156 0 0 69 10 12.6582 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 238 0 0 67 17 20.2381 RBM6 0 genome.wustl.edu 37 3 50103862 50103862 + Missense_Mutation SNP G G T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 50103862 50103862 G T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.2870 p.C957F 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 291 0 0 109 11 9.16667 CNTN3 0 genome.wustl.edu 37 3 74383974 74383974 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 74383974 74383974 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1580 p.P527L 0.998 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 99 0 0 79 8 9.1954 MTMR14 0 genome.wustl.edu 37 3 9743656 9743656 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 9743656 9743656 G A SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known silent c.1952 p.*651 1.000 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 135 0 0 57 8 12.3077 EGF 0 genome.wustl.edu 37 4 110915914 110915914 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 4 110915914 110915914 G A SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.2883 p.R961 0.014 pirsf_Pro-epidermal_GF pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 123 0 0 63 18 22.2222 LRBA 0 genome.wustl.edu 37 4 151242532 151242532 + RNA SNP G G C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 4 151242532 151242532 G C SNP LRBA ENST00000503716 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LRBA HGNC ENSG00000198589 63 0 0 39 4 9.30233 KLHL5 0 genome.wustl.edu 37 4 39088222 39088222 + Missense_Mutation SNP A A T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 4 39088222 39088222 A T SNP KLHL5 ENST00000359687 human ensembl 74_37 +1 known missense c.1126 p.N376Y 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 117 0 0 68 16 19.0476 PSAPL1 0 genome.wustl.edu 37 4 7435637 7435637 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 4 7435637 7435637 C T SNP PSAPL1 ENST00000319098 human ensembl 74_37 -1 known missense c.970 p.V324M 0.230 pirsf_Saposin_chordata,pfam_SapB_1,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAPL1 HGNC ENSG00000178597 122 1 0.813008 66 14 17.5 RAPGEF6 0 genome.wustl.edu 37 5 130764705 130764705 + Missense_Mutation SNP T T C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 130764705 130764705 T C SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.4670 p.N1557S 0.013 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 117 0 0 108 8 6.89655 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 199 1 0.5 55 53 49.0741 PCDHA3 0 genome.wustl.edu 37 5 140182227 140182227 + Missense_Mutation SNP C C T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 140182227 140182227 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1445 p.A482V 0.973 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 247 0 0 132 15 10.2041 PCDHA4 0 genome.wustl.edu 37 5 140187213 140187213 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 140187213 140187213 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.441 p.P147 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 152 0 0 95 41 30.1471 PCDHGA6 0 genome.wustl.edu 37 5 140753830 140753830 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 140753830 140753830 G A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.180 p.A60 0.001 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 121 0 0 61 8 11.5942 IRX4 0 genome.wustl.edu 37 5 1878831 1878831 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 1878831 1878831 G A SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.812 p.P271L 0.486 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 61 0 0 22 6 21.4286 CDH12 0 genome.wustl.edu 37 5 21975261 21975261 + Silent SNP A A G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 21975261 21975261 A G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.465 p.D155 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 131 0 0 96 15 13.5135 PDZD2 0 genome.wustl.edu 37 5 32069712 32069712 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 32069712 32069712 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2489 p.S830N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 56 0 0 26 7 21.2121 FNDC1 0 genome.wustl.edu 37 6 159644628 159644628 + Missense_Mutation SNP T T C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 6 159644628 159644628 T C SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.835 p.S279P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 69 0 0 39 10 20.4082 PRRC2A 0 genome.wustl.edu 37 6 31599008 31599008 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 6 31599008 31599008 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.2558 p.R853H 0.498 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 134 0 0 56 18 24.3243 SYNGAP1 0 genome.wustl.edu 37 6 33410696 33410696 + Silent SNP A A C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 6 33410696 33410696 A C SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.2367 p.P789 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 202 0 0 105 14 11.7647 ITPR3 0 genome.wustl.edu 37 6 33655296 33655296 + Silent SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 6 33655296 33655296 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.6219 p.P2073 0.001 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 31 0 0 11 2 15.3846 BAI3 0 genome.wustl.edu 37 6 70042852 70042852 + Missense_Mutation SNP T T G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 6 70042852 70042852 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3140 p.L1047R 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 63 0 0 41 6 12.766 PLEC 0 genome.wustl.edu 37 8 145049472 145049472 + Silent SNP C C G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 8 145049472 145049472 C G SNP PLEC ENST00000436759 human ensembl 74_37 -1 known silent c.66 p.S22 0.849 NULL pfam_Plectin_repeat,pfam_CH-domain,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 117 0 0 41 6 12.766 ADAM7 0 genome.wustl.edu 37 8 24333950 24333950 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 8 24333950 24333950 G A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.638 p.R213H 0.714 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 73 0 0 32 5 13.5135 WRN 0 genome.wustl.edu 37 8 30977907 30977907 + Missense_Mutation SNP T T G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 8 30977907 30977907 T G SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2597 p.V866G 0.006 superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 71 0 0 74 14 15.9091 BRINP1 0 genome.wustl.edu 37 9 121929663 121929663 + Missense_Mutation SNP A A T TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 9 121929663 121929663 A T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1985 p.L662Q 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 228 0 0 110 20 15.3846 STXBP1 0 genome.wustl.edu 37 9 130439015 130439015 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 9 130439015 130439015 G A SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.1342 p.V448M 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 45 0 0 24 7 22.5806 UBAC1 0 genome.wustl.edu 37 9 138830109 138830109 + Missense_Mutation SNP G G A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 9 138830109 138830109 G A SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known missense c.1061 p.P354L 0.999 smart_STI1_HS-bd pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 104 0 0 48 4 7.69231 SSR4 0 genome.wustl.edu 37 X 153062807 153062807 + RNA SNP C C A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 X 153062807 153062807 C A SNP SSR4 ENST00000482902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSR4 HGNC ENSG00000180879 8 0 0 4 2 33.3333 STS 0 genome.wustl.edu 37 X 7177444 7177444 + Missense_Mutation SNP C C A TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 X 7177444 7177444 C A SNP STS ENST00000217961 human ensembl 74_37 +1 known missense c.452 p.P151H 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 76 0 0 38 3 7.31707 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037835 10037835 + RNA SNP T T C TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 Y 10037835 10037835 T C SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 40 0 0 18 3 14.2857 ANP32A 0 genome.wustl.edu 37 15 69072347 69072347 + RNA DEL G G - TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 15 69072347 69072347 G - DEL ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANP32A HGNC ENSG00000140350 13 0 0 4 2 33.3333 SOX9 0 genome.wustl.edu 37 17 70119762 70119763 + Frame_Shift_Ins INS - - GG TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 17 70119762 70119763 - GG INS SOX9 ENST00000245479 human ensembl 74_37 +1 known frame_shift_ins c.764_765 p.R257fs 1.000:1.000 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 307 0 0 107 21 16.4062 ACVR2A 0 genome.wustl.edu 37 2 148657061 148657072 + In_Frame_Del DEL GTATATTTTTGT GTATATTTTTGT - TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 GTATATTTTTGT GTATATTTTTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 2 148657061 148657072 GTATATTTTTGT - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known in_frame_del c.298_309 p.VYFC100in_frame_del 1.000:1.000:0.770:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Activin_rcpt,prints_TGFB_receptor 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,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 199 0 0 90 18 16.6667 ZFP36L2 0 genome.wustl.edu 37 2 43452464 43452465 + Frame_Shift_Ins INS - - G TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 2 43452464 43452465 - G INS ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_ins c.479_478 p.R160fs 1.000:1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 67 0 0 18 6 25 MBNL1 0 genome.wustl.edu 37 3 152017898 152017898 + RNA DEL T T - TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 3 152017898 152017898 T - DEL MBNL1 ENST00000461436 human ensembl 74_37 +1 putative rna NULL NULL 0.026 - - - no_errors MBNL1 HGNC ENSG00000152601 14 0 0 25 5 16.6667 RAD50 0 genome.wustl.edu 37 5 131915059 131915059 + Frame_Shift_Del DEL A A - TCGA-BR-8367-01A-11D-2340-08 TCGA-BR-8367-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 788a2cc6-835a-4488-8376-d90219cc8b4c 49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0 5 131915059 131915059 A - DEL RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_del c.416 p.M140fs 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 60 0 0 55 22 28.5714