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 GJA8 0 genome.wustl.edu 37 1 147380425 147380425 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 147380425 147380425 G A SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known missense c.343 p.G115S 0.952 NULL pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 132 0 0 95 24 20.1681 KIRREL 0 genome.wustl.edu 37 1 158063171 158063171 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 158063171 158063171 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1562 p.A521V 0.599 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 192 0 0 172 21 10.8808 PBX1 0 genome.wustl.edu 37 1 164761730 164761730 + Splice_Site SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 164761730 164761730 G C SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known splice_site c.266-1 e3-1 1.000 - - - no_errors PBX1 HGNC ENSG00000185630 49 0 0 43 7 14 PAPPA2 0 genome.wustl.edu 37 1 176668245 176668245 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 176668245 176668245 A C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2756 p.D919A 0.998 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 150 0 0 147 8 5.16129 CFH 0 genome.wustl.edu 37 1 196695654 196695654 + Missense_Mutation SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 196695654 196695654 A G SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1928 p.E643G 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 31 0 0 76 20 20.8333 PLXNA2 0 genome.wustl.edu 37 1 208201480 208201480 + Silent SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 208201480 208201480 G C SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.5463 p.L1821 0.999 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 183 0 0 199 27 11.9469 IARS2 0 genome.wustl.edu 37 1 220298662 220298662 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 220298662 220298662 C G SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.1724 p.P575R 0.997 pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 28 0 0 55 12 17.9104 OR14K1 0 genome.wustl.edu 37 1 247902190 247902190 + Missense_Mutation SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 247902190 247902190 T G SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.274 p.F92V 0.007 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 OR14K1 HGNC ENSG00000153230 79 0 0 109 19 14.8438 PTPRU 0 genome.wustl.edu 37 1 29638252 29638252 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 29638252 29638252 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3083 p.R1028H 1.000 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_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 284 0 0 252 54 17.6471 CYP4B1 0 genome.wustl.edu 37 1 47280902 47280902 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 47280902 47280902 C T SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known missense c.1039 p.R347C 0.033 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 51 0 0 69 8 10.3896 CYP4Z2P 0 genome.wustl.edu 37 1 47366097 47366097 + RNA SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 47366097 47366097 A G SNP CYP4Z2P ENST00000505841 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors CYP4Z2P HGNC ENSG00000154198 14 0 0 24 3 11.1111 LRRC7 0 genome.wustl.edu 37 1 70505052 70505052 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 70505052 70505052 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.3431 p.G1144D 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 168 0 0 149 23 13.3721 LRRIQ3 0 genome.wustl.edu 37 1 74507414 74507414 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 74507414 74507414 C G SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1201 p.E401Q 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 53 0 0 106 21 16.5354 PYROXD2 0 genome.wustl.edu 37 10 100150734 100150734 + RNA SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 10 100150734 100150734 G C SNP PYROXD2 ENST00000483923 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors PYROXD2 HGNC ENSG00000119943 187 0 0 212 44 17.1875 MKI67 0 genome.wustl.edu 37 10 129921418 129921418 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 10 129921418 129921418 G C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.108 p.D36E 0.986 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 45 0 0 71 16 18.3908 ENKUR 0 genome.wustl.edu 37 10 25273693 25273693 + Nonsense_Mutation SNP T T A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 10 25273693 25273693 T A SNP ENKUR ENST00000331161 human ensembl 74_37 -1 known nonsense c.736 p.K246* 1.000 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 35 0 0 64 11 14.6667 PFKFB3 0 genome.wustl.edu 37 10 6255678 6255678 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 10 6255678 6255678 C T SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known missense c.211 p.R71C 1.000 pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 235 0 0 199 46 18.7755 HKDC1 0 genome.wustl.edu 37 10 71003047 71003047 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 10 71003047 71003047 C T SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known silent c.801 p.D267 0.242 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 148 0 0 144 39 21.3115 KMT2A 0 genome.wustl.edu 37 11 118375821 118375821 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 118375821 118375821 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.9205 p.P3069S 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 130 0 0 171 42 19.7183 MUC5B 0 genome.wustl.edu 37 11 1274131 1274131 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 1274131 1274131 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.15147 p.N5049 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 58 0 0 28 17 37.7778 PDE3B 0 genome.wustl.edu 37 11 14889193 14889193 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 14889193 14889193 C A SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.3028 p.P1010T 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 63 0 0 70 18 20.4545 INSC 0 genome.wustl.edu 37 11 15267667 15267667 + RNA SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 15267667 15267667 C T SNP INSC ENST00000526102 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors INSC HGNC ENSG00000188487 36 0 0 27 5 15.625 UBXN1 0 genome.wustl.edu 37 11 62445472 62445472 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 62445472 62445472 G A SNP UBXN1 ENST00000294119 human ensembl 74_37 -1 known missense c.409 p.R137W 1.000 NULL pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 106 0 0 69 15 17.8571 PRKCDBP 0 genome.wustl.edu 37 11 6341682 6341682 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 6341682 6341682 C T SNP PRKCDBP ENST00000303927 human ensembl 74_37 -1 known missense c.25 p.G9R 0.844 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 36 0 0 28 125 81.6993 FERMT3 0 genome.wustl.edu 37 11 63978840 63978840 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 63978840 63978840 C T SNP FERMT3 ENST00000279227 human ensembl 74_37 +1 known missense c.608 p.P203L 0.978 smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 31 0 0 24 7 22.5806 CDC42BPG 0 genome.wustl.edu 37 11 64597428 64597428 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 64597428 64597428 G T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.3482 p.A1161E 0.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 121 0 0 65 16 19.7531 GAB2 0 genome.wustl.edu 37 11 77937657 77937657 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 77937657 77937657 C G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.1061 p.R354P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 132 0 0 60 25 29.4118 GAB2 0 genome.wustl.edu 37 11 77937662 77937662 + Silent SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 77937662 77937662 T G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known silent c.1056 p.P352 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 126 1 0.787402 59 21 26.25 PANX1 0 genome.wustl.edu 37 11 93913992 93913992 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 93913992 93913992 G C SNP PANX1 ENST00000227638 human ensembl 74_37 +1 known missense c.1238 p.G413A 0.273 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 45 0 0 89 35 28.2258 PANX1 0 genome.wustl.edu 37 11 93913996 93913996 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 93913996 93913996 G A SNP PANX1 ENST00000227638 human ensembl 74_37 +1 known silent c.1242 p.E414 0.062 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 43 0 0 88 34 27.8689 PANX1 0 genome.wustl.edu 37 11 93914021 93914021 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 93914021 93914021 G A SNP PANX1 ENST00000227638 human ensembl 74_37 +1 known missense c.1267 p.D423N 1.000 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 40 0 0 85 31 26.7241 FAM71C 0 genome.wustl.edu 37 12 100043097 100043097 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 100043097 100043097 A C SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known missense c.647 p.E216A 0.001 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 96 0 0 190 35 15.5556 CLEC12A 0 genome.wustl.edu 37 12 10134661 10134661 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 10134661 10134661 G C SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known missense c.604 p.G202R 0.942 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 17 0 0 36 5 12.1951 MYO1H 0 genome.wustl.edu 37 12 109877497 109877497 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 109877497 109877497 G A SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known missense c.2338 p.V780M 0.022 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 21 0 0 20 14 41.1765 MED13L 0 genome.wustl.edu 37 12 116453041 116453041 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 116453041 116453041 C T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.1048 p.V350I 0.244 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 78 0 0 168 22 11.5789 DNAH10 0 genome.wustl.edu 37 12 124343737 124343737 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 124343737 124343737 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6317 p.R2106H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 41 0 0 31 6 16.2162 GLT1D1 0 genome.wustl.edu 37 12 129442113 129442113 + Silent SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 129442113 129442113 A G SNP GLT1D1 ENST00000442111 human ensembl 74_37 +1 known silent c.804 p.V268 0.724 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 34 0 0 82 9 9.89011 GSG1 0 genome.wustl.edu 37 12 13241739 13241739 + Nonsense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 13241739 13241739 G A SNP GSG1 ENST00000351606 human ensembl 74_37 -1 known nonsense c.538 p.R180* 1.000 NULL pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 47 0 0 62 13 17.3333 SLCO1B1 0 genome.wustl.edu 37 12 21355482 21355482 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 21355482 21355482 A C SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.1193 p.K398T 0.991 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 23 0 0 75 13 14.7727 RECQL 0 genome.wustl.edu 37 12 21623974 21623974 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 21623974 21623974 C T SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.1726 p.A576T 1.000 pfam_RQC_domain pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 24 0 0 60 18 23.0769 ABCD2 0 genome.wustl.edu 37 12 39994380 39994380 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 39994380 39994380 G A SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known missense c.1639 p.P547S 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD2 HGNC ENSG00000173208 89 0 0 192 33 14.6667 KCNA5 0 genome.wustl.edu 37 12 5153796 5153796 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 5153796 5153796 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.483 p.N161 0.997 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 118 0 0 120 15 11.1111 SLC39A5 0 genome.wustl.edu 37 12 56630725 56630725 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 12 56630725 56630725 C T SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known silent c.1218 p.F406 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 517 0 0 497 77 13.4146 NBEA 0 genome.wustl.edu 37 13 36006473 36006473 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 13 36006473 36006473 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6247 p.R2083C 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 16 0 0 17 4 19.0476 FREM2 0 genome.wustl.edu 37 13 39262682 39262682 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 13 39262682 39262682 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.1201 p.D401N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 83 0 0 75 25 25 SALL2 0 genome.wustl.edu 37 14 21992064 21992064 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 14 21992064 21992064 C A SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known missense c.1798 p.D600Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 81 0 0 87 23 20.9091 FAM179B 0 genome.wustl.edu 37 14 45497516 45497516 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 14 45497516 45497516 G T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.3642 p.E1214D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 75 0 0 192 56 22.5806 ENSG00000259093 0 genome.wustl.edu 37 14 63589798 63589798 + RNA SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 14 63589798 63589798 C T SNP ENSG00000259093 ENST00000554921 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-1112J20.2 Clone_based_vega_gene ENSG00000259093 27 0 0 32 9 21.9512 PLEKHG3 0 genome.wustl.edu 37 14 65208577 65208577 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 14 65208577 65208577 C T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.2342 p.P781L 0.918 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 197 0 0 107 26 19.5489 SERPINA9 0 genome.wustl.edu 37 14 94931130 94931130 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 14 94931130 94931130 G T SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known missense c.1018 p.L340I 0.990 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 52 0 0 93 25 21.1864 PCSK6 0 genome.wustl.edu 37 15 101938652 101938652 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 101938652 101938652 G A SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known missense c.950 p.P317L 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 268 0 0 204 47 18.7251 SERINC4 0 genome.wustl.edu 37 15 44089096 44089096 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 44089096 44089096 C T SNP SERINC4 ENST00000249714 human ensembl 74_37 -1 known missense c.155 p.C52Y 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC4 HGNC ENSG00000184716 162 0 0 247 44 15.1203 CYP19A1 0 genome.wustl.edu 37 15 51503185 51503185 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 51503185 51503185 C T SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known missense c.1332 p.M444I 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 74 0 0 71 11 13.4146 LARP6 0 genome.wustl.edu 37 15 71128781 71128781 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 71128781 71128781 C T SNP LARP6 ENST00000299213 human ensembl 74_37 -1 known silent c.264 p.P88 0.458 pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 146 0 0 172 52 23.2143 PARP6 0 genome.wustl.edu 37 15 72551962 72551962 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 72551962 72551962 C G SNP PARP6 ENST00000287196 human ensembl 74_37 -1 known missense c.797 p.G266A 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 256 0 0 489 64 11.5732 PML 0 genome.wustl.edu 37 15 74317252 74317252 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 74317252 74317252 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.1238 p.P413L 0.005 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 73 0 0 70 20 22.2222 CSPG4 0 genome.wustl.edu 37 15 75981657 75981657 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 75981657 75981657 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.1749 p.P583 0.001 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 83 0 0 41 19 31.6667 SULT1A1 0 genome.wustl.edu 37 16 28619682 28619682 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 28619682 28619682 G C SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known missense c.302 p.A101G 0.603 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 111 0 0 178 33 15.6398 NPIPB11 0 genome.wustl.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 29415043 29415043 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative silent c.81 p.H27 0.821 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 17 0 0 33 4 10.8108 CLUAP1 0 genome.wustl.edu 37 16 3586166 3586166 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 3586166 3586166 C T SNP CLUAP1 ENST00000576634 human ensembl 74_37 +1 known silent c.1137 p.D379 0.734 NULL pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 47 0 0 79 24 23.301 HNRNPA1P48 0 genome.wustl.edu 37 16 51679844 51679844 + RNA SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 51679844 51679844 C T SNP HNRNPA1P48 ENST00000562726 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors HNRNPA1P48 HGNC ENSG00000224578 55 0 0 66 37 35.9223 SLC6A2 0 genome.wustl.edu 37 16 55729245 55729245 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 55729245 55729245 G A SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.1078 p.A360T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 112 0 0 223 29 11.5079 TAF1C 0 genome.wustl.edu 37 16 84218553 84218553 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 84218553 84218553 G A SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known silent c.42 p.T14 0.012 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 46 0 0 38 32 45.7143 MTHFSD 0 genome.wustl.edu 37 16 86565700 86565700 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 86565700 86565700 G T SNP MTHFSD ENST00000360900 human ensembl 74_37 -1 known missense c.1069 p.Q357K 0.557 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 29 0 0 30 4 11.7647 KCNJ12 0 genome.wustl.edu 37 17 21318690 21318690 + Silent SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 21318690 21318690 C A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.36 p.I12 0.606 pfam_K_chnl_inward-rec_Kir_N pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 93 0 0 69 5 6.75676 ATAD5 0 genome.wustl.edu 37 17 29196362 29196362 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 29196362 29196362 G A SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.3410 p.G1137E 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 70 0 0 160 23 12.5683 CCT6B 0 genome.wustl.edu 37 17 33286636 33286636 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 33286636 33286636 G A SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known silent c.171 p.T57 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 45 0 0 91 15 14.1509 KRTAP4-1 0 genome.wustl.edu 37 17 39341075 39341075 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 39341075 39341075 G T SNP KRTAP4-1 ENST00000398472 human ensembl 74_37 -1 known missense c.32 p.S11Y 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 42 0 0 74 11 12.9412 MRPL45P2 0 genome.wustl.edu 37 17 45568405 45568405 + RNA SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 45568405 45568405 G A SNP MRPL45P2 ENST00000425159 human ensembl 74_37 -1 known rna NULL NULL 0.848 - - - no_errors MRPL45P2 HGNC ENSG00000228782 37 0 0 55 10 15.3846 HOXB5 0 genome.wustl.edu 37 17 46670652 46670652 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 46670652 46670652 G A SNP HOXB5 ENST00000239151 human ensembl 74_37 -1 known silent c.393 p.T131 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 103 0 0 76 19 20 CLTC 0 genome.wustl.edu 37 17 57737878 57737878 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 57737878 57737878 C T SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.1096 p.R366W 1.000 superfamily_ARM-type_fold,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 CLTC HGNC ENSG00000141367 194 0 0 379 61 13.8636 TP53 0 genome.wustl.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 7577556 7577556 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.725 p.C242S 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 77 0 0 66 36 35.2941 EFNB3 0 genome.wustl.edu 37 17 7611542 7611542 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 7611542 7611542 G A SNP EFNB3 ENST00000226091 human ensembl 74_37 +1 known missense c.389 p.R130H 0.981 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 121 0 0 100 25 20 CCDC40 0 genome.wustl.edu 37 17 78039385 78039385 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 17 78039385 78039385 G T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1542 p.R514S 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 130 0 0 105 23 17.9688 ANKRD30B 0 genome.wustl.edu 37 18 14843045 14843045 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 18 14843045 14843045 C G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.2774 p.S925C 0.022 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 18 0 0 22 3 12 ZNF521 0 genome.wustl.edu 37 18 22807024 22807024 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 18 22807024 22807024 G A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.858 p.C286 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 91 0 0 97 16 14.1593 DSG3 0 genome.wustl.edu 37 18 29039945 29039945 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 18 29039945 29039945 C T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.655 p.R219C 0.951 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 42 0 0 146 34 18.8889 TMEM200C 0 genome.wustl.edu 37 18 5890542 5890542 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 18 5890542 5890542 C T SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known silent c.1521 p.S507 0.003 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 17 0 0 10 3 23.0769 SERPINB7 0 genome.wustl.edu 37 18 61468239 61468239 + Missense_Mutation SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 18 61468239 61468239 T C SNP SERPINB7 ENST00000336429 human ensembl 74_37 +1 known missense c.737 p.L246P 0.005 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 71 0 0 119 38 24.2038 ZNF729 0 genome.wustl.edu 37 19 22469330 22469330 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 19 22469330 22469330 G T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.3 p.M1I 0.033 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 73 0 0 72 23 24.2105 TMEM91 0 genome.wustl.edu 37 19 41889658 41889658 + Silent SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 19 41889658 41889658 A G SNP TMEM91 ENST00000392002 human ensembl 74_37 +1 known silent c.399 p.A133 0.994 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors TMEM91 HGNC ENSG00000142046 114 1 0.869565 56 13 18.8406 ARHGEF1 0 genome.wustl.edu 37 19 42396731 42396731 + Missense_Mutation SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 19 42396731 42396731 T G SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.470 p.V157G 1.000 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 90 0 0 38 23 37.7049 PSG8 0 genome.wustl.edu 37 19 43262172 43262172 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 19 43262172 43262172 A C SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known missense c.691 p.F231V 0.530 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 346 0 0 421 64 13.1959 FBN3 0 genome.wustl.edu 37 19 8155087 8155087 + Nonsense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 19 8155087 8155087 G T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known nonsense c.6080 p.S2027* 0.976 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 73 0 0 56 15 21.1268 DPP10 0 genome.wustl.edu 37 2 116101431 116101431 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 116101431 116101431 G C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.226 p.E76Q 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 42 0 0 75 29 27.8846 EN1 0 genome.wustl.edu 37 2 119604516 119604516 + Silent SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 119604516 119604516 T G SNP EN1 ENST00000295206 human ensembl 74_37 -1 known silent c.228 p.P76 0.323 NULL pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 12 0 0 14 4 22.2222 BIN1 0 genome.wustl.edu 37 2 127864487 127864487 + Silent SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 127864487 127864487 C G SNP BIN1 ENST00000316724 human ensembl 74_37 -1 known silent c.33 p.A11 0.994 prints_Amphiphysin_2 pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 58 0 0 34 9 20.9302 GPR17 0 genome.wustl.edu 37 2 128408831 128408831 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 128408831 128408831 G T SNP GPR17 ENST00000272644 human ensembl 74_37 +1 known missense c.606 p.Q202H 1.000 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_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 236 0 0 143 73 33.7963 NCKAP5 0 genome.wustl.edu 37 2 133540880 133540880 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 133540880 133540880 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.3504 p.G1168 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 76 0 0 67 38 36.1905 NCKAP5 0 genome.wustl.edu 37 2 133547605 133547605 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 133547605 133547605 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.1083 p.L361 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 29 0 0 31 12 27.907 TTN 0 genome.wustl.edu 37 2 179600641 179600641 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 179600641 179600641 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.10800 p.S3600 0.067 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 61 0 0 80 41 33.8843 MARS2 0 genome.wustl.edu 37 2 198570228 198570228 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 198570228 198570228 C T SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known silent c.99 p.S33 0.000 NULL pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 89 0 0 98 7 6.66667 SPAST 0 genome.wustl.edu 37 2 32289152 32289152 + Silent SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 32289152 32289152 C G SNP SPAST ENST00000315285 human ensembl 74_37 +1 known silent c.252 p.R84 1.000 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 31 0 0 24 23 48.9362 SPAST 0 genome.wustl.edu 37 2 32362007 32362007 + Silent SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 32362007 32362007 A G SNP SPAST ENST00000315285 human ensembl 74_37 +1 known silent c.1383 p.L461 0.996 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 17 0 0 49 24 32.8767 ANKRD36 0 genome.wustl.edu 37 2 97877478 97877478 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 2 97877478 97877478 G A SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.3469 p.V1157M 0.198 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 8 0 0 8 8 50 SYNDIG1 0 genome.wustl.edu 37 20 24565546 24565546 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 24565546 24565546 C T SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.535 p.R179W 0.119 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 161 1 0.617284 320 34 9.60452 DUSP15 0 genome.wustl.edu 37 20 30449248 30449248 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 30449248 30449248 G A SNP DUSP15 ENST00000339738 human ensembl 74_37 -1 known silent c.666 p.F222 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP15 HGNC ENSG00000149599 12 0 0 10 4 28.5714 TTLL9 0 genome.wustl.edu 37 20 30486296 30486296 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 30486296 30486296 G A SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.134 p.R45Q 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 69 0 0 143 14 8.9172 LZTS3 0 genome.wustl.edu 37 20 3147537 3147537 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 3147537 3147537 C G SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.273 p.K91N 0.999 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 48 0 0 70 10 12.5 TTI1 0 genome.wustl.edu 37 20 36641604 36641604 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 36641604 36641604 C A SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.615 p.L205F 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 55 0 0 170 14 7.6087 RBCK1 0 genome.wustl.edu 37 20 407987 407987 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 407987 407987 C A SNP RBCK1 ENST00000356286 human ensembl 74_37 +1 known missense c.1060 p.L354I 1.000 NULL pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 51 0 0 103 16 13.4454 WISP2 0 genome.wustl.edu 37 20 43344038 43344038 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 43344038 43344038 G A SNP WISP2 ENST00000190983 human ensembl 74_37 +1 known missense c.7 p.G3S 0.395 NULL pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 17 0 0 26 4 13.3333 KCNS1 0 genome.wustl.edu 37 20 43726377 43726377 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 43726377 43726377 G C SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known missense c.1036 p.L346V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 49 0 0 69 10 12.6582 BCAS4 0 genome.wustl.edu 37 20 49458427 49458427 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 49458427 49458427 C T SNP BCAS4 ENST00000358791 human ensembl 74_37 +1 known missense c.479 p.S160F 0.051 NULL NULL - no_errors BCAS4 HGNC ENSG00000124243 50 0 0 44 7 13.7255 TSHZ2 0 genome.wustl.edu 37 20 51871044 51871044 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 51871044 51871044 C T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known silent c.1047 p.N349 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 96 0 0 191 59 23.6 RAB22A 0 genome.wustl.edu 37 20 56928380 56928380 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 56928380 56928380 G A SNP RAB22A ENST00000244040 human ensembl 74_37 +1 known missense c.250 p.V84I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB22A HGNC ENSG00000124209 109 0 0 216 13 5.67686 NCAM2 0 genome.wustl.edu 37 21 22656600 22656600 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 21 22656600 22656600 G T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.217 p.G73C 0.992 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 43 0 0 57 22 27.8481 KRTAP19-6 0 genome.wustl.edu 37 21 31914074 31914074 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 21 31914074 31914074 A C SNP KRTAP19-6 ENST00000334046 human ensembl 74_37 -1 known missense c.79 p.C27G 0.003 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-6 HGNC ENSG00000186925 214 0 0 182 53 22.5532 SYNJ1 0 genome.wustl.edu 37 21 34056362 34056362 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 21 34056362 34056362 A C SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.1303 p.F435V 1.000 pfscan_Syja_N pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 30 0 0 60 31 34.0659 PCBP3 0 genome.wustl.edu 37 21 47361643 47361643 + RNA SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 21 47361643 47361643 G A SNP PCBP3 ENST00000475402 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCBP3 HGNC ENSG00000183570 86 0 0 34 12 26.087 POM121L9P 0 genome.wustl.edu 37 22 24659741 24659741 + RNA SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 22 24659741 24659741 G A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 38 0 0 29 3 9.375 RRP7B 0 genome.wustl.edu 37 22 42969930 42969930 + RNA SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 22 42969930 42969930 T C SNP RRP7B ENST00000458605 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRP7B HGNC ENSG00000182841 383 0 0 257 76 22.8228 CELSR1 0 genome.wustl.edu 37 22 46760030 46760030 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 22 46760030 46760030 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.8898 p.T2966 0.003 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 143 0 0 90 14 13.4615 BRD1 0 genome.wustl.edu 37 22 50216701 50216701 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 22 50216701 50216701 G T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.1265 p.S422Y 0.977 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 260 0 0 256 48 15.7895 SBF1 0 genome.wustl.edu 37 22 50903026 50903026 + Nonsense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 22 50903026 50903026 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known nonsense c.1573 p.Q525* 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 127 0 0 86 23 21.1009 ADCY5 0 genome.wustl.edu 37 3 123038602 123038602 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 123038602 123038602 G A SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.2175 p.D725 0.996 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 60 0 0 54 9 14.2857 ITGB5 0 genome.wustl.edu 37 3 124492671 124492671 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 124492671 124492671 G C SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known missense c.1782 p.C594W 1.000 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 93 0 0 97 18 15.6522 CPNE4 0 genome.wustl.edu 37 3 131404727 131404727 + Nonsense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 131404727 131404727 G A SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known nonsense c.637 p.R213* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 35 0 0 60 10 14.2857 DNAJC13 0 genome.wustl.edu 37 3 132166238 132166238 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 132166238 132166238 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.218 p.R73H 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 50 0 0 102 18 15 STAG1 0 genome.wustl.edu 37 3 136117672 136117672 + Splice_Site SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 136117672 136117672 C G SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known splice_site c.2197-1 e21-1 1.000 - - - no_errors STAG1 HGNC ENSG00000118007 13 0 0 57 6 9.52381 SLC9A9 0 genome.wustl.edu 37 3 143185988 143185988 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 143185988 143185988 C T SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.1360 p.E454K 0.955 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 32 0 0 56 14 20 XCR1 0 genome.wustl.edu 37 3 46062775 46062775 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 46062775 46062775 C T SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known missense c.665 p.R222H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 91 0 0 67 19 22.093 GRM2 0 genome.wustl.edu 37 3 51749182 51749182 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 51749182 51749182 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1393 p.R465C 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 66 0 0 52 15 22.3881 FLNB 0 genome.wustl.edu 37 3 58134046 58134046 + Nonsense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 58134046 58134046 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known nonsense c.5842 p.R1948* 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 55 0 0 27 5 15.625 TMF1 0 genome.wustl.edu 37 3 69101186 69101186 + Missense_Mutation SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 69101186 69101186 A G SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.52 p.S18P 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 130 0 0 96 24 20 VGLL3 0 genome.wustl.edu 37 3 87018199 87018199 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 87018199 87018199 C A SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known missense c.478 p.A160S 0.998 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 162 0 0 238 35 12.8205 COL8A1 0 genome.wustl.edu 37 3 99513916 99513916 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 3 99513916 99513916 G A SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.1171 p.E391K 0.987 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 32 0 0 30 12 28.5714 HHIP 0 genome.wustl.edu 37 4 145568092 145568092 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 145568092 145568092 C T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.265 p.R89C 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 66 0 0 49 16 24.6154 NR3C2 0 genome.wustl.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 149075976 149075976 T G SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.2103 p.P701 0.111 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 31 0 0 20 12 37.5 NAF1 0 genome.wustl.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 164050124 164050124 T G SNP NAF1 ENST00000274054 human ensembl 74_37 -1 known silent c.1410 p.P470 0.726 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel - no_errors NAF1 HGNC ENSG00000145414 8 0 0 8 9 52.9412 TENM3 0 genome.wustl.edu 37 4 183600907 183600907 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 183600907 183600907 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.1415 p.A472V 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 85 0 0 54 14 20.5882 TENM3 0 genome.wustl.edu 37 4 183721189 183721189 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 183721189 183721189 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.7785 p.D2595 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 18 0 0 14 4 22.2222 ACSL1 0 genome.wustl.edu 37 4 185724503 185724503 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 185724503 185724503 C A SNP ACSL1 ENST00000281455 human ensembl 74_37 -1 known missense c.166 p.D56Y 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ENSG00000151726 31 0 0 25 3 10.7143 TRIML1 0 genome.wustl.edu 37 4 189068199 189068199 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 189068199 189068199 C G SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.1080 p.D360E 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 104 0 0 103 20 16.2602 KIT 0 genome.wustl.edu 37 4 55594074 55594074 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 55594074 55594074 C T SNP KIT ENST00000288135 human ensembl 74_37 +1 known silent c.1860 p.V620 0.023 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 54 0 0 55 14 20.2899 GPRIN3 0 genome.wustl.edu 37 4 90170778 90170778 + Missense_Mutation SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 90170778 90170778 A G SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.484 p.S162P 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 135 0 0 116 33 22.1477 UNC5C 0 genome.wustl.edu 37 4 96137357 96137357 + Missense_Mutation SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 4 96137357 96137357 T C SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1651 p.S551G 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 30 0 0 42 10 19.2308 SLCO4C1 0 genome.wustl.edu 37 5 101585438 101585438 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 101585438 101585438 C T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known silent c.1524 p.S508 0.006 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 42 0 0 75 12 13.7931 GFRA3 0 genome.wustl.edu 37 5 137588726 137588726 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 137588726 137588726 C G SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.1134 p.R378S 0.024 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 38 0 0 40 10 20 PCDHGB1 0 genome.wustl.edu 37 5 140730590 140730590 + Nonsense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 140730590 140730590 G T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known nonsense c.763 p.G255* 0.689 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 146 0 0 111 33 22.9167 ATP10B 0 genome.wustl.edu 37 5 160047768 160047768 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 160047768 160047768 C A SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.2002 p.V668L 0.000 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 161 0 0 83 21 20.1923 CDH12 0 genome.wustl.edu 37 5 21751951 21751951 + Missense_Mutation SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 21751951 21751951 T G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.2280 p.E760D 0.265 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 109 0 0 107 42 28.1879 CDH10 0 genome.wustl.edu 37 5 24488107 24488107 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 24488107 24488107 G T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.2032 p.P678T 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 69 0 0 115 31 21.2329 CDH9 0 genome.wustl.edu 37 5 26886139 26886139 + Missense_Mutation SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 26886139 26886139 T G SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1566 p.K522N 0.999 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 CDH9 HGNC ENSG00000113100 94 0 0 165 53 24.3119 CD180 0 genome.wustl.edu 37 5 66480391 66480391 + Nonsense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 66480391 66480391 C A SNP CD180 ENST00000256447 human ensembl 74_37 -1 known nonsense c.280 p.E94* 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 61 0 0 95 28 22.7642 DMGDH 0 genome.wustl.edu 37 5 78416115 78416115 + RNA SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 78416115 78416115 T G SNP DMGDH ENST00000518707 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors DMGDH HGNC ENSG00000132837 8 0 0 12 10 45.4545 CMYA5 0 genome.wustl.edu 37 5 79027991 79027991 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 79027991 79027991 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.3403 p.V1135M 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 52 0 0 91 23 20.1754 MTX3 0 genome.wustl.edu 37 5 79285047 79285047 + Silent SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 5 79285047 79285047 T C SNP MTX3 ENST00000512528 human ensembl 74_37 -1 known silent c.249 p.E83 0.421 pirsf_Metaxin pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,pirsf_Metaxin - no_errors MTX3 HGNC ENSG00000177034 9 0 0 10 7 41.1765 SYNE1 0 genome.wustl.edu 37 6 152652593 152652593 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 152652593 152652593 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.13227 p.D4409 0.991 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 53 0 0 56 17 23.2877 LPA 0 genome.wustl.edu 37 6 161027567 161027567 + Silent SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 161027567 161027567 A G SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.2727 p.T909 0.000 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 212 1 0.469484 235 36 13.2841 WDR27 0 genome.wustl.edu 37 6 170064343 170064343 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 170064343 170064343 G A SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known missense c.823 p.R275C 0.933 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 58 0 0 87 19 17.9245 DDR1 0 genome.wustl.edu 37 6 30863265 30863265 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 30863265 30863265 C T SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.1598 p.A533V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 348 0 0 234 60 20.4082 HLA-C 0 genome.wustl.edu 37 6 31236950 31236950 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 31236950 31236950 G C SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.1115 p.A372G 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 62 0 0 104 20 16.129 GRM4 0 genome.wustl.edu 37 6 34029747 34029747 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 34029747 34029747 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.795 p.F265 0.516 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 133 0 0 98 16 14.0351 TCP11 0 genome.wustl.edu 37 6 35086242 35086242 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 35086242 35086242 A C SNP TCP11 ENST00000311875 human ensembl 74_37 -1 known missense c.1355 p.V452G 0.626 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 46 0 0 54 20 27.027 F13A1 0 genome.wustl.edu 37 6 6167737 6167737 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 6167737 6167737 G T SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1862 p.A621D 0.990 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 54 0 0 56 12 17.6471 RREB1 0 genome.wustl.edu 37 6 7229901 7229901 + Silent SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 7229901 7229901 G C SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.1569 p.T523 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 306 2 0.649351 157 63 28.6364 GJB7 0 genome.wustl.edu 37 6 87993986 87993986 + Missense_Mutation SNP T T A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 87993986 87993986 T A SNP GJB7 ENST00000296882 human ensembl 74_37 -1 known missense c.645 p.L215F 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB7 HGNC ENSG00000164411 49 0 0 98 19 16.2393 CUX1 0 genome.wustl.edu 37 7 101559469 101559469 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 101559469 101559469 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known silent c.138 p.I46 0.936 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 223 0 0 155 40 20.5128 GRM8 0 genome.wustl.edu 37 7 126542634 126542634 + Nonsense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 126542634 126542634 G C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known nonsense c.1118 p.S373* 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 53 0 0 70 21 23.0769 LRRC4 0 genome.wustl.edu 37 7 127669591 127669591 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 127669591 127669591 C T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1103 p.R368Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 71 0 0 54 17 23.9437 ZNF786 0 genome.wustl.edu 37 7 148768958 148768958 + Silent SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 148768958 148768958 G T SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known silent c.906 p.G302 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 52 0 0 33 4 10.8108 DNAH11 0 genome.wustl.edu 37 7 21939738 21939738 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 21939738 21939738 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.13324 p.G4442C 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 DNAH11 HGNC ENSG00000105877 34 0 0 46 61 57.0093 HOXA13 0 genome.wustl.edu 37 7 27238898 27238898 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 27238898 27238898 C T SNP HOXA13 ENST00000222753 human ensembl 74_37 -1 known missense c.799 p.E267K 1.000 NULL pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors HOXA13 HGNC ENSG00000106031 59 0 0 103 12 10.4348 VPS41 0 genome.wustl.edu 37 7 38791835 38791835 + Missense_Mutation SNP A A T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 38791835 38791835 A T SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.1867 p.Y623N 1.000 pfam_Clathrin_H-chain/VPS_repeat,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 100 0 0 392 33 7.76471 VWC2 0 genome.wustl.edu 37 7 49842380 49842380 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 49842380 49842380 C T SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known missense c.770 p.T257M 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 92 0 0 116 117 50.2146 ZNF733P 0 genome.wustl.edu 37 7 62752411 62752411 + RNA SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 7 62752411 62752411 G T SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors ZNF733P HGNC ENSG00000185037 24 0 0 74 13 14.9425 CSMD3 0 genome.wustl.edu 37 8 113812420 113812420 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 8 113812420 113812420 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1943 p.G648E 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 62 0 0 165 11 6.25 TMEM71 0 genome.wustl.edu 37 8 133764099 133764099 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 8 133764099 133764099 G A SNP TMEM71 ENST00000356838 human ensembl 74_37 -1 known silent c.246 p.C82 0.814 NULL NULL - no_errors TMEM71 HGNC ENSG00000165071 127 0 0 303 32 9.55224 KAT6A 0 genome.wustl.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 8 41790659 41790659 T G SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.5079 p.P1693 0.229 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 49 0 0 27 24 47.0588 SNTG1 0 genome.wustl.edu 37 8 51621478 51621478 + Silent SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 8 51621478 51621478 T C SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known silent c.1224 p.H408 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 65 0 0 169 40 19.1388 NPBWR1 0 genome.wustl.edu 37 8 53853152 53853152 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 8 53853152 53853152 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.685 p.R229W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 38 0 0 24 14 36.8421 MSC 0 genome.wustl.edu 37 8 72755963 72755963 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 8 72755963 72755963 G C SNP MSC ENST00000325509 human ensembl 74_37 -1 known missense c.451 p.L151V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 136 0 0 197 20 9.21659 SLC26A7 0 genome.wustl.edu 37 8 92364079 92364079 + Silent SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 8 92364079 92364079 C A SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known silent c.1182 p.I394 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 100 0 0 284 29 9.26518 COL27A1 0 genome.wustl.edu 37 9 116982078 116982078 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 9 116982078 116982078 C A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.2375 p.P792H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 99 0 0 125 17 11.9718 TNC 0 genome.wustl.edu 37 9 117848440 117848440 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 9 117848440 117848440 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.1570 p.G524S 1.000 pfam_EGF_extracell,smart_EG-like_dom 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 127 0 0 71 25 26.0417 DAB2IP 0 genome.wustl.edu 37 9 124329506 124329506 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 9 124329506 124329506 C T SNP DAB2IP ENST00000259371 human ensembl 74_37 +1 known silent c.39 p.Y13 1.000 NULL pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 246 0 0 166 42 20.1923 SPATA31A6 0 genome.wustl.edu 37 9 43624824 43624824 + Missense_Mutation SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 9 43624824 43624824 T G SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.3863 p.K1288T 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 120 0 0 90 38 29.6875 DRP2 0 genome.wustl.edu 37 X 100513426 100513426 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f X 100513426 100513426 G A SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.2519 p.R840H 0.951 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 11 0 0 6 8 57.1429 HTR2C 0 genome.wustl.edu 37 X 113965892 113965892 + Silent SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f X 113965892 113965892 C A SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known silent c.225 p.I75 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 48 0 0 105 33 23.913 BEND2 0 genome.wustl.edu 37 X 18192243 18192243 + Nonsense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f X 18192243 18192243 C A SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known nonsense c.1888 p.E630* 0.005 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 29 0 0 69 38 35.514 TFE3 0 genome.wustl.edu 37 X 48887694 48887694 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f X 48887694 48887694 C T SNP TFE3 ENST00000315869 human ensembl 74_37 -1 known missense c.1703 p.S568N 1.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFE3 HGNC ENSG00000068323 28 0 0 28 19 40.4255 HUWE1 0 genome.wustl.edu 37 X 53590779 53590779 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f X 53590779 53590779 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.7033 p.E2345K 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 8 0 0 29 17 36.9565 BRWD3 0 genome.wustl.edu 37 X 79978259 79978259 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f X 79978259 79978259 C T SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.1678 p.D560N 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 25 0 0 96 10 9.43396 ZNF711 0 genome.wustl.edu 37 X 84526509 84526509 + Missense_Mutation SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f X 84526509 84526509 T C SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.1985 p.F662S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 27 0 0 55 13 19.1176 PCDH19 0 genome.wustl.edu 37 X 99662933 99662933 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f X 99662933 99662933 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.663 p.T221 0.977 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 146 0 0 114 46 28.75 B3GALNT2 0 genome.wustl.edu 37 1 235613601 235613603 + In_Frame_Del DEL GAG GAG - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 1 235613601 235613603 GAG - DEL B3GALNT2 ENST00000366600 human ensembl 74_37 -1 known in_frame_del c.1423_1421 p.P474in_frame_del 1.000:0.126:1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 69 0 0 142 16 10.1266 OR5I1 0 genome.wustl.edu 37 11 55703337 55703338 + Frame_Shift_Ins INS - - A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 55703337 55703338 - A INS OR5I1 ENST00000301532 human ensembl 74_37 -1 known frame_shift_ins c.540_539 p.C181fs 1.000:1.000 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 OR5I1 HGNC ENSG00000167825 29 0 0 75 13 14.7727 MAP6 0 genome.wustl.edu 37 11 75319364 75319365 + Frame_Shift_Ins INS - - TTCC TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 11 75319364 75319365 - TTCC INS MAP6 ENST00000304771 human ensembl 74_37 -1 known frame_shift_ins c.909_908 p.N303fs 1.000:1.000 pfam_MAP6/FAM154 pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 45 0 0 46 6 11.5385 WDR73 0 genome.wustl.edu 37 15 85186877 85186894 + In_Frame_Del DEL CTTGGCTCCGTGTTCCAT CTTGGCTCCGTGTTCCAT - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 CTTGGCTCCGTGTTCCAT CTTGGCTCCGTGTTCCAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 85186877 85186894 CTTGGCTCCGTGTTCCAT - DEL WDR73 ENST00000434634 human ensembl 74_37 -1 known in_frame_del c.961_944 p.DGTRSQ315in_frame_del 0.001:0.001:0.001:0.001:0.001:0.001:0.002:0.005:0.007:0.007:0.010:0.012:0.012:0.011:0.010:0.009:0.007:0.005 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR73 HGNC ENSG00000177082 20 0 0 23 15 39.4737 WDR73 0 genome.wustl.edu 37 15 85186894 85186894 + Frame_Shift_Del DEL T T - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 85186894 85186894 T - DEL WDR73 ENST00000434634 human ensembl 74_37 -1 known frame_shift_del c.944 p.D315fs 0.005 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR73 HGNC ENSG00000177082 20 0 0 23 15 39.4737 AKAP13 0 genome.wustl.edu 37 15 86262343 86262343 + Frame_Shift_Del DEL T T - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 15 86262343 86262343 T - DEL AKAP13 ENST00000361243 human ensembl 74_37 +1 known frame_shift_del c.6050 p.L2017fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 49 0 0 107 13 10.8333 CES1 0 genome.wustl.edu 37 16 55853479 55853479 + Frame_Shift_Del DEL C C - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 55853479 55853479 C - DEL CES1 ENST00000360526 human ensembl 74_37 -1 known frame_shift_del c.874 p.E292fs 0.996 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 232 0 0 493 36 6.80529 NLRC5 0 genome.wustl.edu 37 16 57081493 57081494 + Frame_Shift_Ins INS - - T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 16 57081493 57081494 - T INS NLRC5 ENST00000262510 human ensembl 74_37 +1 known frame_shift_ins c.3375_3376 p.R1125fs 0.000:0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 37 0 0 41 5 10.8696 DIDO1 0 genome.wustl.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 20 61512380 61512381 - G INS DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_ins c.4928_4927 p.R1643fs 0.000:0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 49 0 0 59 7 10.6061 TOP3B 0 genome.wustl.edu 37 22 22323012 22323012 + Frame_Shift_Del DEL G G - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 22 22323012 22323012 G - DEL TOP3B ENST00000357179 human ensembl 74_37 -1 known frame_shift_del c.717 p.Y240fs 0.891 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2 pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 88 0 0 145 33 18.5393 PBX2 0 genome.wustl.edu 37 6 32156075 32156075 + Frame_Shift_Del DEL T T - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 32156075 32156075 T - DEL PBX2 ENST00000375050 human ensembl 74_37 -1 known frame_shift_del c.502 p.I168fs 1.000 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 131 0 0 162 33 16.9231 BMP6 0 genome.wustl.edu 37 6 7727523 7727525 + In_Frame_Del DEL AGC AGC - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 6 7727523 7727525 AGC - DEL BMP6 ENST00000283147 human ensembl 74_37 +1 known in_frame_del c.335_337 p.Q116in_frame_del 0.925:0.919:0.908 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 33 0 0 25 2 7.40741 SVEP1 0 genome.wustl.edu 37 9 113233694 113233694 + Frame_Shift_Del DEL T T - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f 9 113233694 113233694 T - DEL SVEP1 ENST00000401783 human ensembl 74_37 -1 known frame_shift_del c.2948 p.K983fs 1.000 NULL 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 29 0 0 41 17 29.3103