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 KIF1B 0 genome.wustl.edu 37 1 10336421 10336421 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 10336421 10336421 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.983 p.A328V 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 63 0 0 36 11 23.4043 PRAMEF10 0 genome.wustl.edu 37 1 12955425 12955425 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 12955425 12955425 A C SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known missense c.254 p.L85R 0.001 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 110 0 0 97 6 5.82524 MTMR11 0 genome.wustl.edu 37 1 149900751 149900751 + RNA SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 149900751 149900751 C T SNP MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MTMR11 HGNC ENSG00000014914 97 0 0 38 11 22.449 CGN 0 genome.wustl.edu 37 1 151497219 151497219 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 151497219 151497219 A G SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.1471 p.R491G 0.737 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 49 0 0 20 8 28.5714 HRNR 0 genome.wustl.edu 37 1 152187979 152187979 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 152187979 152187979 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.6126 p.H2042 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 1150 1 0.086881 987 116 10.5168 FLG 0 genome.wustl.edu 37 1 152285861 152285861 + Nonsense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 152285861 152285861 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.1501 p.R501* 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 685 0 0 405 227 35.9177 LCE1C 0 genome.wustl.edu 37 1 152777707 152777707 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 152777707 152777707 C T SNP LCE1C ENST00000368768 human ensembl 74_37 -1 known missense c.248 p.R83H 0.161 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 200 0 0 109 73 40.1099 NES 0 genome.wustl.edu 37 1 156645073 156645073 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 156645073 156645073 G A SNP NES ENST00000368223 human ensembl 74_37 -1 known silent c.843 p.V281 1.000 pfam_IF pfam_IF - no_errors NES HGNC ENSG00000132688 106 0 0 78 15 16.129 CD5L 0 genome.wustl.edu 37 1 157804319 157804319 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 157804319 157804319 T C SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.596 p.K199R 0.081 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 123 0 0 83 17 17 CD5L 0 genome.wustl.edu 37 1 157804432 157804432 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 157804432 157804432 G A SNP CD5L ENST00000368174 human ensembl 74_37 -1 known silent c.483 p.T161 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 245 0 0 184 17 8.45771 CD1E 0 genome.wustl.edu 37 1 158325943 158325943 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 158325943 158325943 G A SNP CD1E ENST00000434258 human ensembl 74_37 +1 known missense c.946 p.G316R 0.000 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 57 0 0 39 5 11.3636 CROCCP2 0 genome.wustl.edu 37 1 16952351 16952351 + RNA SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 16952351 16952351 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.509 - - - no_errors CROCCP2 HGNC ENSG00000215908 13 0 0 15 5 25 TNR 0 genome.wustl.edu 37 1 175324675 175324675 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 175324675 175324675 A G SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.3213 p.Y1071 0.988 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 183 0 0 73 43 37.069 ASTN1 0 genome.wustl.edu 37 1 176903398 176903398 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 176903398 176903398 T C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.2585 p.N862S 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 110 0 0 89 12 11.8812 CFH 0 genome.wustl.edu 37 1 196694307 196694307 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 196694307 196694307 G A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1753 p.D585N 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 91 0 0 37 13 26 SUSD4 0 genome.wustl.edu 37 1 223465898 223465898 + Nonsense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 223465898 223465898 G A SNP SUSD4 ENST00000343846 human ensembl 74_37 -1 known nonsense c.244 p.R82* 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 216 0 0 119 29 19.5946 OBSCN 0 genome.wustl.edu 37 1 228475397 228475397 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 228475397 228475397 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.9547 p.R3183W 0.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 55 0 0 34 22 39.2857 OR14C36 0 genome.wustl.edu 37 1 248512867 248512867 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 248512867 248512867 C T SNP OR14C36 ENST00000317861 human ensembl 74_37 +1 known missense c.791 p.P264L 0.029 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 OR14C36 HGNC ENSG00000177174 197 0 0 125 23 15.5405 CEP85 0 genome.wustl.edu 37 1 26586136 26586136 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 26586136 26586136 G A SNP CEP85 ENST00000252992 human ensembl 74_37 +1 known missense c.1184 p.R395H 1.000 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 254 2 0.78125 117 52 30.7692 MCOLN2 0 genome.wustl.edu 37 1 85431387 85431387 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 85431387 85431387 C A SNP MCOLN2 ENST00000370608 human ensembl 74_37 -1 known missense c.82 p.A28S 0.006 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 69 0 0 28 11 28.2051 NOC2L 0 genome.wustl.edu 37 1 889226 889226 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 889226 889226 C T SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.824 p.R275Q 0.986 superfamily_ARM-type_fold pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 101 0 0 44 28 38.8889 C10orf137 0 genome.wustl.edu 37 10 127427012 127427012 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 127427012 127427012 A C SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.1979 p.K660T 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 107 0 0 77 5 6.09756 MEIG1 0 genome.wustl.edu 37 10 15014613 15014613 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 15014613 15014613 C T SNP MEIG1 ENST00000378240 human ensembl 74_37 +1 known silent c.240 p.V80 0.893 NULL NULL - no_errors MEIG1 HGNC ENSG00000197889 63 0 0 40 6 13.0435 PLXDC2 0 genome.wustl.edu 37 10 20500613 20500613 + Silent SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 20500613 20500613 T C SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known silent c.1077 p.F359 0.978 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 82 0 0 50 10 16.6667 ZEB1 0 genome.wustl.edu 37 10 31816022 31816022 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 31816022 31816022 G A SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.3208 p.E1070K 0.971 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 31 0 0 16 12 42.8571 TMEM72 0 genome.wustl.edu 37 10 45430170 45430170 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 45430170 45430170 C A SNP TMEM72 ENST00000544540 human ensembl 74_37 +1 known missense c.62 p.A21D 0.000 NULL NULL - no_errors TMEM72 HGNC ENSG00000187783 201 0 0 117 53 31.1765 GDF10 0 genome.wustl.edu 37 10 48428669 48428669 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 48428669 48428669 G A SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known missense c.1217 p.A406V 0.996 pfam_TGF-b_C,smart_TGF-b_C,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 86 0 0 59 8 11.9403 ZWINT 0 genome.wustl.edu 37 10 58118593 58118593 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 58118593 58118593 G A SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.596 p.A199V 0.924 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 257 0 0 104 42 28.7671 AVPI1 0 genome.wustl.edu 37 10 99439503 99439503 + Missense_Mutation SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 99439503 99439503 G C SNP AVPI1 ENST00000370626 human ensembl 74_37 -1 known missense c.160 p.R54G 0.993 NULL NULL - no_errors AVPI1 HGNC ENSG00000119986 97 0 0 59 7 10.6061 APOA4 0 genome.wustl.edu 37 11 116692384 116692384 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 116692384 116692384 C T SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known silent c.390 p.E130 0.046 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 18 0 0 19 9 32.1429 MCAM 0 genome.wustl.edu 37 11 119183298 119183298 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 119183298 119183298 C T SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.800 p.R267H 0.007 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 213 0 0 109 32 22.695 OR10G4 0 genome.wustl.edu 37 11 123886393 123886393 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 123886393 123886393 C T SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known silent c.112 p.L38 0.248 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 224 0 0 91 56 38.0952 FLI1 0 genome.wustl.edu 37 11 128679074 128679074 + Silent SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 128679074 128679074 G T SNP FLI1 ENST00000527786 human ensembl 74_37 +1 known silent c.804 p.P268 0.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 131 0 0 73 13 15.1163 LDHA 0 genome.wustl.edu 37 11 18424400 18424400 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 18424400 18424400 C T SNP LDHA ENST00000540430 human ensembl 74_37 +1 known silent c.519 p.T173 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHA HGNC ENSG00000134333 150 0 0 65 4 5.7971 TNNI2 0 genome.wustl.edu 37 11 1860928 1860928 + Missense_Mutation SNP T T A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 1860928 1860928 T A SNP TNNI2 ENST00000252898 human ensembl 74_37 +1 known missense c.2 p.M1K 1.000 NULL pfam_Troponin - no_errors TNNI2 HGNC ENSG00000130598 102 0 0 44 13 22.807 IGF2-AS 0 genome.wustl.edu 37 11 2167572 2167572 + RNA SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 2167572 2167572 G A SNP IGF2-AS ENST00000381361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IGF2-AS HGNC ENSG00000099869 213 0 0 121 39 24.375 OR51G2 0 genome.wustl.edu 37 11 4936037 4936037 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 4936037 4936037 A C SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.857 p.L286R 0.938 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G2 HGNC ENSG00000176893 113 0 0 55 15 21.4286 OR51G2 0 genome.wustl.edu 37 11 4936528 4936528 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 4936528 4936528 A G SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known silent c.366 p.S122 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G2 HGNC ENSG00000176893 76 0 0 46 11 19.2982 OR51A4 0 genome.wustl.edu 37 11 4967766 4967766 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 4967766 4967766 A T SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.565 p.L189M 0.062 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 324 0 0 129 12 8.51064 OR5T3 0 genome.wustl.edu 37 11 56020329 56020329 + Silent SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 56020329 56020329 T G SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known silent c.654 p.S218 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 419 0 0 223 13 5.50847 OR5B2 0 genome.wustl.edu 37 11 58189920 58189920 + Missense_Mutation SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 58189920 58189920 G C SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.815 p.A272G 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B2 HGNC ENSG00000172365 126 0 0 38 29 43.2836 APBB1 0 genome.wustl.edu 37 11 6422615 6422615 + Silent SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 6422615 6422615 G T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known silent c.1548 p.L516 0.997 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 139 0 0 59 13 18.0556 NADSYN1 0 genome.wustl.edu 37 11 71208604 71208604 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 71208604 71208604 A T SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known missense c.1840 p.S614C 1.000 pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 116 0 0 47 19 28.7879 KSR2 0 genome.wustl.edu 37 12 117914308 117914308 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 12 117914308 117914308 T G SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.2543 p.K848T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 17 0 0 15 3 16.6667 DDX11 0 genome.wustl.edu 37 12 31237978 31237978 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 12 31237978 31237978 C T SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.556 p.R186W 0.002 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 42 0 0 19 4 17.3913 KRT5 0 genome.wustl.edu 37 12 52912853 52912853 + Missense_Mutation SNP T T A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 12 52912853 52912853 T A SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known missense c.647 p.E216V 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 241 0 0 110 33 23.0769 IKZF4 0 genome.wustl.edu 37 12 56420736 56420736 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 12 56420736 56420736 G A SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known missense c.458 p.R153Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 38 0 0 17 7 29.1667 FAM90A1 0 genome.wustl.edu 37 12 8375360 8375360 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 12 8375360 8375360 C T SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known silent c.453 p.P151 0.013 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 40 0 0 9 12 57.1429 FAM155A 0 genome.wustl.edu 37 13 108518522 108518522 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 13 108518522 108518522 G A SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known silent c.423 p.G141 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 49 0 0 32 6 15.7895 UPF3A 0 genome.wustl.edu 37 13 115047496 115047496 + Missense_Mutation SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 13 115047496 115047496 G C SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known missense c.208 p.V70L 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 11 0 0 15 4 21.0526 BRCA2 0 genome.wustl.edu 37 13 32911315 32911315 + Silent SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 13 32911315 32911315 G C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.2823 p.V941 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 106 0 0 49 30 37.9747 MAB21L1 0 genome.wustl.edu 37 13 36049997 36049997 + Silent SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 13 36049997 36049997 T G SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known silent c.279 p.S93 0.984 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 181 0 0 91 33 26.6129 DCLK1 0 genome.wustl.edu 37 13 36367576 36367576 + Missense_Mutation SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 13 36367576 36367576 G C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1985 p.A662G 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 185 0 0 59 35 37.234 DAAM1 0 genome.wustl.edu 37 14 59791093 59791093 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 14 59791093 59791093 C A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.910 p.L304I 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 153 0 0 22 23 51.1111 NGB 0 genome.wustl.edu 37 14 77737252 77737252 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 14 77737252 77737252 C T SNP NGB ENST00000298352 human ensembl 74_37 -1 known missense c.29 p.R10Q 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin - no_errors NGB HGNC ENSG00000165553 15 0 0 1 6 85.7143 DUOX1 0 genome.wustl.edu 37 15 45433204 45433204 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 15 45433204 45433204 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.1501 p.V501I 0.989 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 251 0 0 56 63 52.9412 SHC4 0 genome.wustl.edu 37 15 49148239 49148239 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 15 49148239 49148239 C T SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.1153 p.V385I 0.173 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 230 0 0 80 31 27.9279 ATXN2L 0 genome.wustl.edu 37 16 28841303 28841303 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 16 28841303 28841303 G A SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.958 p.G320R 1.000 pfam_LsmAD_domain pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 93 0 0 52 5 8.77193 ROGDI 0 genome.wustl.edu 37 16 4848162 4848162 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 16 4848162 4848162 C T SNP ROGDI ENST00000587377 human ensembl 74_37 -1 known missense c.568 p.V190I 0.039 NULL pfam_RAVE2/Rogdi - no_errors ROGDI HGNC ENSG00000067836 63 0 0 34 16 32 CES2 0 genome.wustl.edu 37 16 66976138 66976138 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 16 66976138 66976138 T C SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.1460 p.V487A 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 119 0 0 33 35 51.4706 EDC4 0 genome.wustl.edu 37 16 67918031 67918031 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 16 67918031 67918031 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.4186 p.V1396M 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 38 0 0 20 6 23.0769 CMTR2 0 genome.wustl.edu 37 16 71319389 71319389 + Silent SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 16 71319389 71319389 T C SNP CMTR2 ENST00000338099 human ensembl 74_37 -1 known silent c.435 p.E145 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom - no_errors CMTR2 HGNC ENSG00000180917 166 0 0 69 5 6.75676 CHST6 0 genome.wustl.edu 37 16 75513372 75513372 + Missense_Mutation SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 16 75513372 75513372 C G SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.355 p.D119H 0.899 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 121 0 0 86 7 7.52688 GRIN2A 0 genome.wustl.edu 37 16 9857925 9857925 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 16 9857925 9857925 C T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.3476 p.R1159H 0.993 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 329 0 0 94 97 50.7853 MIEF2 0 genome.wustl.edu 37 17 18166065 18166065 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 17 18166065 18166065 C T SNP MIEF2 ENST00000323019 human ensembl 74_37 +1 known missense c.31 p.R11W 0.572 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 101 0 0 26 10 27.7778 TBC1D29 0 genome.wustl.edu 37 17 28887643 28887643 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 17 28887643 28887643 C T SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known silent c.87 p.L29 1.000 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 188 0 0 84 24 22.2222 SMARCE1 0 genome.wustl.edu 37 17 38792281 38792281 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 17 38792281 38792281 C T SNP SMARCE1 ENST00000348513 human ensembl 74_37 -1 known missense c.443 p.R148H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SMARCE1 HGNC ENSG00000073584 221 0 0 70 46 39.6552 TBC1D3P2 0 genome.wustl.edu 37 17 60342186 60342186 + RNA SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 17 60342186 60342186 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 34 0 0 15 3 16.6667 DNAI2 0 genome.wustl.edu 37 17 72295929 72295929 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 17 72295929 72295929 T C SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known missense c.797 p.V266A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 87 0 0 47 8 14.5455 TP53 0 genome.wustl.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 17 7577548 7577548 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.733 p.G245S 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 131 0 0 26 43 62.3188 ANKRD20A5P 0 genome.wustl.edu 37 18 14220038 14220038 + RNA SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 18 14220038 14220038 A G SNP ANKRD20A5P ENST00000583348 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 55 0 0 21 2 8.69565 IER3IP1 0 genome.wustl.edu 37 18 44683851 44683851 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 18 44683851 44683851 G A SNP IER3IP1 ENST00000256433 human ensembl 74_37 -1 known missense c.149 p.S50L 1.000 pfam_Yos1 pfam_Yos1 - no_errors IER3IP1 HGNC ENSG00000134049 209 0 0 38 42 52.5 SERPINB12 0 genome.wustl.edu 37 18 61231355 61231355 + Splice_Site SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 18 61231355 61231355 T C SNP SERPINB12 ENST00000269491 human ensembl 74_37 +1 known splice_site c.645+2 e5+2 0.997 - - - no_errors SERPINB12 HGNC ENSG00000166634 138 0 0 47 17 26.5625 SERPINB13 0 genome.wustl.edu 37 18 61255944 61255944 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 18 61255944 61255944 C A SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known missense c.43 p.L15I 0.667 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 132 0 0 42 34 44.7368 ZNF181 0 genome.wustl.edu 37 19 35232159 35232159 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 35232159 35232159 A G SNP ZNF181 ENST00000392232 human ensembl 74_37 +1 known silent c.1005 p.K335 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,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 ZNF181 HGNC ENSG00000197841 164 0 0 96 35 26.7176 ZNF781 0 genome.wustl.edu 37 19 38160229 38160229 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 38160229 38160229 T C SNP ZNF781 ENST00000358582 human ensembl 74_37 -1 known missense c.821 p.N274S 0.030 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 69 0 0 33 7 17.5 LRFN1 0 genome.wustl.edu 37 19 39805107 39805107 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 39805107 39805107 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known silent c.870 p.P290 0.068 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 33 0 0 7 23 76.6667 CRX 0 genome.wustl.edu 37 19 48342758 48342758 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 48342758 48342758 C A SNP CRX ENST00000221996 human ensembl 74_37 +1 known missense c.434 p.P145H 0.011 NULL pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors CRX HGNC ENSG00000105392 220 1 0.452489 46 106 69.7368 VN1R2 0 genome.wustl.edu 37 19 53762734 53762734 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 53762734 53762734 G T SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known missense c.1106 p.C369F 0.017 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 245 0 0 118 50 29.7619 NLRP9 0 genome.wustl.edu 37 19 56235402 56235402 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 56235402 56235402 G A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.2103 p.D701 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 156 0 0 107 19 15.0794 PEG3 0 genome.wustl.edu 37 19 57335005 57335005 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 57335005 57335005 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.437 p.R146Q 0.002 smart_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 156 0 0 37 63 63 RFX2 0 genome.wustl.edu 37 19 6004219 6004219 + Missense_Mutation SNP T T A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 6004219 6004219 T A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1493 p.Q498L 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 195 0 0 40 57 58.7629 MUC16 0 genome.wustl.edu 37 19 9063752 9063752 + Silent SNP T T A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 9063752 9063752 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.23694 p.T7898 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 217 0 0 75 5 6.25 ZNF266 0 genome.wustl.edu 37 19 9524819 9524819 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 19 9524819 9524819 G A SNP ZNF266 ENST00000361151 human ensembl 74_37 -1 known missense c.782 p.T261I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 109 0 0 21 27 56.25 GREB1 0 genome.wustl.edu 37 2 11725893 11725893 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 11725893 11725893 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.1021 p.A341T 0.001 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 90 0 0 39 26 40 TPO 0 genome.wustl.edu 37 2 1499847 1499847 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 1499847 1499847 A C SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2093 p.N698T 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 47 0 0 16 11 40.7407 TPO 0 genome.wustl.edu 37 2 1500483 1500483 + Missense_Mutation SNP G G C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 1500483 1500483 G C SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2332 p.E778Q 0.980 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 249 0 0 102 50 32.8947 TTN 0 genome.wustl.edu 37 2 179452836 179452836 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 179452836 179452836 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.55594 p.V18532I 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 90 0 0 21 17 44.7368 TTN-AS1 0 genome.wustl.edu 37 2 179483605 179483605 + RNA SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 179483605 179483605 C T SNP TTN-AS1 ENST00000604956 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 45 0 0 8 5 38.4615 TTN 0 genome.wustl.edu 37 2 179604777 179604777 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 179604777 179604777 G A SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.12670 p.L4224 0.957 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 129 0 0 21 33 61.1111 ZNF804A 0 genome.wustl.edu 37 2 185801900 185801900 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 185801900 185801900 A T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1777 p.S593C 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 129 0 0 56 4 6.66667 PUM2 0 genome.wustl.edu 37 2 20463105 20463105 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 20463105 20463105 G A SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known missense c.2074 p.P692S 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 112 0 0 66 15 18.5185 ABCA12 0 genome.wustl.edu 37 2 215812220 215812220 + Missense_Mutation SNP T T A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 215812220 215812220 T A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.7165 p.M2389L 0.103 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 133 0 0 12 28 70 PTPRN 0 genome.wustl.edu 37 2 220164507 220164507 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 220164507 220164507 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.1438 p.P480S 1.000 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 85 0 0 81 6 6.89655 KIF1A 0 genome.wustl.edu 37 2 241726728 241726728 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 241726728 241726728 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.369 p.C123 0.993 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 137 0 0 37 39 51.3158 ALK 0 genome.wustl.edu 37 2 29551215 29551215 + Splice_Site SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 29551215 29551215 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known splice_site c.1414+1 e6+1 1.000 - - - no_errors ALK HGNC ENSG00000171094 115 0 0 46 18 28.125 THADA 0 genome.wustl.edu 37 2 43800003 43800003 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 43800003 43800003 G A SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.1858 p.L620F 1.000 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 80 0 0 50 10 16.6667 SPTBN1 0 genome.wustl.edu 37 2 54851961 54851961 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 54851961 54851961 A C SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.1203 p.K401N 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 SPTBN1 HGNC ENSG00000115306 86 0 0 42 15 26.3158 ETAA1 0 genome.wustl.edu 37 2 67632028 67632028 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 67632028 67632028 G T SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.2214 p.M738I 0.000 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 82 0 0 35 11 23.913 INPP4A 0 genome.wustl.edu 37 2 99180037 99180037 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 99180037 99180037 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known silent c.1980 p.S660 0.994 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 79 0 0 41 7 14.5833 INPP4A 0 genome.wustl.edu 37 2 99182628 99182628 + Nonsense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 99182628 99182628 G T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known nonsense c.2431 p.E811* 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 22 0 0 16 3 15.7895 HUNK 0 genome.wustl.edu 37 21 33318457 33318457 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 21 33318457 33318457 C T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known silent c.720 p.Y240 0.156 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 99 0 0 47 33 41.25 ADARB1 0 genome.wustl.edu 37 21 46602630 46602630 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 21 46602630 46602630 G T SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.1209 p.L403F 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 56 0 0 30 7 18.9189 CLTCL1 0 genome.wustl.edu 37 22 19207439 19207439 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 22 19207439 19207439 G A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known silent c.2874 p.H958 0.016 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 210 0 0 88 53 37.5887 IGLL5 0 genome.wustl.edu 37 22 23237753 23237753 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 22 23237753 23237753 C T SNP IGLL5 ENST00000532223 human ensembl 74_37 +1 known missense c.527 p.A176V 0.023 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors IGLL5 HGNC ENSG00000254709 133 0 0 56 37 39.7849 CRYBA4 0 genome.wustl.edu 37 22 27026411 27026411 + Missense_Mutation SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 22 27026411 27026411 C G SNP CRYBA4 ENST00000354760 human ensembl 74_37 +1 known missense c.551 p.P184R 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC ENSG00000196431 53 0 0 32 2 5.88235 SEC14L4 0 genome.wustl.edu 37 22 30886231 30886231 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 22 30886231 30886231 C A SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known missense c.1084 p.V362F 1.000 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 138 0 0 111 21 15.9091 TMEM184B 0 genome.wustl.edu 37 22 38620889 38620889 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 22 38620889 38620889 C T SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known silent c.885 p.Q295 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 53 0 0 37 8 17.7778 PKDREJ 0 genome.wustl.edu 37 22 46656654 46656654 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 22 46656654 46656654 T C SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.2566 p.T856A 0.000 pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 50 0 0 17 19 52.7778 EMC3 0 genome.wustl.edu 37 3 10018730 10018730 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 10018730 10018730 A G SNP EMC3 ENST00000245046 human ensembl 74_37 -1 known missense c.218 p.F73S 1.000 pfam_DUF106_TM,pirsf_UCP010045_TM_euk pfam_DUF106_TM,pirsf_UCP010045_TM_euk - no_errors EMC3 HGNC ENSG00000125037 189 0 0 97 6 5.82524 IMPG2 0 genome.wustl.edu 37 3 100951812 100951812 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 100951812 100951812 A T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.3046 p.F1016I 1.000 pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 184 0 0 85 18 17.4757 BBX 0 genome.wustl.edu 37 3 107492475 107492475 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 107492475 107492475 T C SNP BBX ENST00000325805 human ensembl 74_37 +1 known missense c.1907 p.V636A 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 79 0 0 16 18 52.9412 ALDH1L1 0 genome.wustl.edu 37 3 125879818 125879818 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 125879818 125879818 T G SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.5 p.K2T 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 84 0 0 56 4 6.66667 STAG1 0 genome.wustl.edu 37 3 136057238 136057238 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 136057238 136057238 A G SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.3727 p.S1243P 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 133 0 0 45 17 27.4194 PRR23B 0 genome.wustl.edu 37 3 138739227 138739227 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 138739227 138739227 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known missense c.277 p.G93S 0.001 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 101 0 0 45 30 40 IGSF10 0 genome.wustl.edu 37 3 151163065 151163065 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 151163065 151163065 A G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.4704 p.S1568 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 344 0 0 92 62 40.2597 VILL 0 genome.wustl.edu 37 3 38047335 38047335 + Nonsense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 38047335 38047335 G A SNP VILL ENST00000283713 human ensembl 74_37 +1 known nonsense c.2003 p.W668* 0.995 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 207 0 0 65 60 48 SCN11A 0 genome.wustl.edu 37 3 38888324 38888324 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 38888324 38888324 T G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.5237 p.K1746T 0.101 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 274 1 0.363636 104 31 22.963 PRSS45 0 genome.wustl.edu 37 3 46784042 46784042 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 46784042 46784042 A C SNP PRSS45 ENST00000442359 human ensembl 74_37 -1 known missense c.485 p.V162G 0.431 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS45 HGNC ENSG00000188086 268 1 0.371747 151 49 24.5 DALRD3 0 genome.wustl.edu 37 3 49055175 49055175 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 49055175 49055175 C T SNP DALRD3 ENST00000341949 human ensembl 74_37 -1 known missense c.589 p.E197K 0.001 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 105 0 0 59 9 13.2353 CACNA1D 0 genome.wustl.edu 37 3 53835248 53835248 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 53835248 53835248 C T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.5264 p.S1755L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 153 0 0 71 8 10.1266 ARL13B 0 genome.wustl.edu 37 3 93768349 93768349 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 93768349 93768349 C T SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known missense c.1124 p.P375L 0.986 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 122 0 0 67 10 12.987 OR5H14 0 genome.wustl.edu 37 3 97868965 97868965 + Silent SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 3 97868965 97868965 T C SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known silent c.736 p.L246 0.028 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 85 0 0 30 11 26.8293 RBM47 0 genome.wustl.edu 37 4 40438548 40438548 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 4 40438548 40438548 C A SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.1240 p.G414W 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 372 0 0 84 110 56.701 ZRSR1 0 genome.wustl.edu 37 5 112228594 112228594 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 112228594 112228594 C T SNP ZRSR1 ENST00000391338 human ensembl 74_37 +1 known missense c.1258 p.R420W 0.035 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 36 0 0 24 5 17.2414 AQPEP 0 genome.wustl.edu 37 5 115346505 115346505 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 115346505 115346505 A G SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.2161 p.I721V 0.969 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 91 0 0 13 21 61.7647 DNAH5 0 genome.wustl.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 13717530 13717530 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12599 p.K4200T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 63 0 0 55 7 11.2903 DNAH5 0 genome.wustl.edu 37 5 13824440 13824440 + Silent SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 13824440 13824440 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.6447 p.V2149 0.002 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 89 0 0 68 10 12.8205 OR2V2 0 genome.wustl.edu 37 5 180582757 180582757 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 180582757 180582757 A T SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known missense c.815 p.D272V 0.016 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 100 0 0 55 4 6.77966 CDH12 0 genome.wustl.edu 37 5 21751873 21751873 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 21751873 21751873 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.2358 p.E786 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 219 0 0 90 47 34.3066 CDH6 0 genome.wustl.edu 37 5 31313471 31313471 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 31313471 31313471 G A SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.1300 p.D434N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 229 0 0 102 60 37.037 GPR150 0 genome.wustl.edu 37 5 94956706 94956706 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 94956706 94956706 G A SNP GPR150 ENST00000380007 human ensembl 74_37 +1 known missense c.727 p.A243T 0.926 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR150 HGNC ENSG00000178015 32 0 0 4 13 76.4706 SOGA3 0 genome.wustl.edu 37 6 127837556 127837556 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 6 127837556 127837556 A G SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known silent c.204 p.N68 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 123 0 0 50 11 18.0328 HLA-DQA2 0 genome.wustl.edu 37 6 32714123 32714123 + Silent SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 6 32714123 32714123 C A SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known silent c.720 p.I240 0.308 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 189 0 0 98 41 29.4964 WDR46 0 genome.wustl.edu 37 6 33248266 33248266 + Missense_Mutation SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 6 33248266 33248266 C A SNP WDR46 ENST00000374617 human ensembl 74_37 -1 known missense c.1463 p.S488I 0.981 pfam_BING4_C_dom pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR46 HGNC ENSG00000227057 21 0 0 17 2 10.5263 NRN1 0 genome.wustl.edu 37 6 5999379 5999379 + Missense_Mutation SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 6 5999379 5999379 C G SNP NRN1 ENST00000244766 human ensembl 74_37 -1 known missense c.259 p.A87P 1.000 NULL NULL - no_errors NRN1 HGNC ENSG00000124785 101 0 0 51 23 31.0811 ZNF292 0 genome.wustl.edu 37 6 87969804 87969804 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 6 87969804 87969804 G A SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.6457 p.E2153K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 206 0 0 79 28 26.1682 MUC17 0 genome.wustl.edu 37 7 100687003 100687003 + Silent SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 100687003 100687003 C G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.12306 p.T4102 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 185 0 0 97 31 24.2188 ANKRD7 0 genome.wustl.edu 37 7 117864908 117864908 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 117864908 117864908 G T SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known missense c.24 p.W8C 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 167 0 0 118 21 15.1079 TPK1 0 genome.wustl.edu 37 7 144463012 144463012 + Nonsense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 144463012 144463012 G A SNP TPK1 ENST00000360057 human ensembl 74_37 -1 known nonsense c.76 p.Q26* 1.000 superfamily_TPK_catalytic,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase - no_errors TPK1 HGNC ENSG00000196511 160 0 0 77 14 15.3846 PTPRN2 0 genome.wustl.edu 37 7 157370783 157370783 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 157370783 157370783 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.2615 p.A872V 0.168 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 144 0 0 58 42 42 FAM188B 0 genome.wustl.edu 37 7 30890083 30890083 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 30890083 30890083 T C SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.1459 p.S487P 1.000 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 29 0 0 20 9 31.0345 CDK13 0 genome.wustl.edu 37 7 40132389 40132389 + Missense_Mutation SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 40132389 40132389 A G SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.3241 p.T1081A 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 CDK13 HGNC ENSG00000065883 127 0 0 58 12 17.1429 GLI3 0 genome.wustl.edu 37 7 42005605 42005605 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 42005605 42005605 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3066 p.P1022 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 33 0 0 26 14 35 GLI3 0 genome.wustl.edu 37 7 42085089 42085089 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 42085089 42085089 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.720 p.Q240 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 141 0 0 87 6 6.45161 IGFBP1 0 genome.wustl.edu 37 7 45931573 45931573 + Missense_Mutation SNP G G T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 45931573 45931573 G T SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known missense c.562 p.A188S 0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 69 0 0 37 20 35.0877 PCLO 0 genome.wustl.edu 37 7 82582874 82582874 + Silent SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 7 82582874 82582874 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.7395 p.T2465 0.016 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 115 0 0 40 33 45.2055 ATP6V1C1 0 genome.wustl.edu 37 8 104068162 104068162 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 8 104068162 104068162 C T SNP ATP6V1C1 ENST00000395862 human ensembl 74_37 +1 known silent c.639 p.S213 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C1 HGNC ENSG00000155097 110 0 0 24 55 69.6203 CSMD3 0 genome.wustl.edu 37 8 113585844 113585844 + Missense_Mutation SNP A A T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 8 113585844 113585844 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.3928 p.F1310I 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 220 0 0 48 34 41.4634 BAI1 0 genome.wustl.edu 37 8 143624776 143624776 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 8 143624776 143624776 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.4426 p.R1476W 0.999 prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 58 0 0 14 13 48.1481 CYP11B1 0 genome.wustl.edu 37 8 143961157 143961157 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 8 143961157 143961157 C T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.73 p.G25S 0.230 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 226 0 0 82 50 37.8788 BOP1 0 genome.wustl.edu 37 8 145512860 145512860 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 8 145512860 145512860 G A SNP BOP1 ENST00000529231 human ensembl 74_37 -1 putative missense c.8 p.T3M 0.000 NULL NULL - no_errors BOP1 HGNC ENSG00000170727 158 0 0 43 35 44.8718 PREX2 0 genome.wustl.edu 37 8 68930087 68930087 + Missense_Mutation SNP T T G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 8 68930087 68930087 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.148 p.L50V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 44 0 0 32 16 33.3333 CORO2A 0 genome.wustl.edu 37 9 100890891 100890891 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 100890891 100890891 G A SNP CORO2A ENST00000343933 human ensembl 74_37 -1 known missense c.1078 p.R360W 0.997 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 91 0 0 56 8 12.5 SVEP1 0 genome.wustl.edu 37 9 113261433 113261433 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 113261433 113261433 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.1569 p.T523 0.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 69 0 0 36 11 23.4043 FKBP15 0 genome.wustl.edu 37 9 115959233 115959233 + Silent SNP C C A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 115959233 115959233 C A SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known silent c.843 p.V281 0.989 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 87 0 0 30 19 38.7755 TLR4 0 genome.wustl.edu 37 9 120476848 120476848 + Silent SNP C C G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 120476848 120476848 C G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known silent c.2442 p.A814 0.972 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 286 0 0 131 22 14.3791 LRSAM1 0 genome.wustl.edu 37 9 130249962 130249962 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 130249962 130249962 G A SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known missense c.1267 p.E423K 0.910 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 30 0 0 14 6 30 GRIN1 0 genome.wustl.edu 37 9 140040199 140040199 + Missense_Mutation SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 140040199 140040199 C T SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.415 p.R139C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 70 0 0 41 9 18 BNC2 0 genome.wustl.edu 37 9 16436012 16436012 + Missense_Mutation SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 16436012 16436012 T C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2180 p.E727G 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 151 0 0 62 6 8.82353 ADAMTSL1 0 genome.wustl.edu 37 9 18680489 18680489 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 18680489 18680489 A C SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.1316 p.K439T 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 225 0 0 126 7 5.26316 PTPRD 0 genome.wustl.edu 37 9 8404618 8404618 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 9 8404618 8404618 A G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.4129 p.L1377 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 47 0 0 18 7 28 KLHL13 0 genome.wustl.edu 37 X 117043899 117043899 + Missense_Mutation SNP A A C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 117043899 117043899 A C SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known missense c.740 p.L247R 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 152 0 0 79 42 34.7107 MAMLD1 0 genome.wustl.edu 37 X 149639247 149639247 + Silent SNP T T C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 149639247 149639247 T C SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known silent c.1327 p.L443 0.031 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 141 0 0 105 6 5.40541 ATP2B3 0 genome.wustl.edu 37 X 152825250 152825250 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 152825250 152825250 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.2689 p.L897 0.998 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 89 0 0 45 22 32.8358 CXorf23 0 genome.wustl.edu 37 X 19947942 19947942 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 19947942 19947942 G A SNP CXorf23 ENST00000379687 human ensembl 74_37 -1 known silent c.1980 p.I660 1.000 NULL NULL - no_errors CXorf23 HGNC ENSG00000173681 195 0 0 119 7 5.55556 MXRA5 0 genome.wustl.edu 37 X 3261861 3261861 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 3261861 3261861 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.14 p.A5V 0.001 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 27 0 0 8 21 72.4138 FAM47B 0 genome.wustl.edu 37 X 34962853 34962853 + Silent SNP A A G TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 34962853 34962853 A G SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known silent c.1905 p.K635 0.002 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 173 0 0 69 36 34.2857 SLC35A2 0 genome.wustl.edu 37 X 48762575 48762575 + Missense_Mutation SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 48762575 48762575 G A SNP SLC35A2 ENST00000452555 human ensembl 74_37 -1 known missense c.695 p.A232V 0.975 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A2 HGNC ENSG00000102100 13 0 0 1 8 88.8889 PPP1R3F 0 genome.wustl.edu 37 X 49127037 49127037 + Silent SNP C C T TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 49127037 49127037 C T SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known silent c.705 p.D235 0.998 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 15 0 0 7 8 53.3333 LAS1L 0 genome.wustl.edu 37 X 64744084 64744084 + Silent SNP G G A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 X 64744084 64744084 G A SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known silent c.1152 p.P384 1.000 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 23 0 0 11 9 45 COL11A1 0 genome.wustl.edu 37 1 103355063 103355063 + Frame_Shift_Del DEL C C - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 1 103355063 103355063 C - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.4448 p.G1483fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 241 0 0 83 29 25.8929 PBLD 0 genome.wustl.edu 37 10 70051948 70051949 + In_Frame_Ins INS - - TAGTTCTCC TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 10 70051948 70051949 - TAGTTCTCC INS PBLD ENST00000309049 human ensembl 74_37 -1 known in_frame_ins c.331_330 p.110in_frame_insGEL 0.514:0.346 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 113 0 0 55 6 9.83607 CEP164 0 genome.wustl.edu 37 11 117222647 117222648 + Frame_Shift_Ins INS - - A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 117222647 117222648 - A INS CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_ins c.336_337 p.K116fs 1.000:1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 55 0 0 25 2 7.40741 PDE2A 0 genome.wustl.edu 37 11 72307656 72307657 + Frame_Shift_Ins INS - - C TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 11 72307656 72307657 - C INS PDE2A ENST00000334456 human ensembl 74_37 -1 known frame_shift_ins c.470_469 p.A157fs 0.230:0.234 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 88 0 0 35 25 41.6667 HCN4 0 genome.wustl.edu 37 15 73615229 73615229 + Frame_Shift_Del DEL G G - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 15 73615229 73615229 G - DEL HCN4 ENST00000261917 human ensembl 74_37 -1 known frame_shift_del c.3205 p.R1069fs 0.532 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 11 0 0 3 2 40 LOC101928215 0 genome.wustl.edu 37 16 29118702 29118704 + RNA DEL AGC AGC - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 16 29118702 29118704 AGC - DEL LOC101928215 ENST00000562618 human ensembl 74_37 -1 known rna NULL NULL 0.009:0.009:0.009 - - - no_errors CTB-134H23.3 Clone_based_vega_gene ENSG00000260908 9 0 0 6 2 25 SLC4A10 0 genome.wustl.edu 37 2 162719565 162719566 + Frame_Shift_Ins INS - - A TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 2 162719565 162719566 - A INS SLC4A10 ENST00000446997 human ensembl 74_37 +1 known frame_shift_ins c.759_760 p.N254fs 0.996:1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 97 0 0 17 12 41.3793 ALG12 0 genome.wustl.edu 37 22 50302919 50302920 + In_Frame_Ins INS - - GTG TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 22 50302919 50302920 - GTG INS ALG12 ENST00000330817 human ensembl 74_37 -1 known in_frame_ins c.741_740 p.248in_frame_insT 0.019:0.999 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 267 0 0 156 25 13.8122 RASA1 0 genome.wustl.edu 37 5 86564739 86564740 + Frame_Shift_Del DEL CT CT - TCGA-BR-8286-01A-12D-2340-08 TCGA-BR-8286-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0d70de9-86fb-406d-8959-9089f3a44127 8fb6969d-2604-44c5-88ff-6fdd69c9a472 5 86564739 86564740 CT - DEL RASA1 ENST00000274376 human ensembl 74_37 +1 known frame_shift_del c.471_472 p.L159fs 1.000:1.000 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 125 0 0 29 35 54.6875