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 CHIA 0 genome.wustl.edu 37 1 111862929 111862929 + Silent SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 111862929 111862929 G T SNP CHIA ENST00000343320 human ensembl 74_37 +1 known silent c.1272 p.S424 0.154 NULL pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 70 0 0 38 3 7.31707 PLOD1 0 genome.wustl.edu 37 1 12008083 12008083 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 12008083 12008083 C T SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.268 p.R90C 0.999 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 130 0 0 113 6 5.04202 CD1D 0 genome.wustl.edu 37 1 158151974 158151974 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 158151974 158151974 T G SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.481 p.L161V 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 301 1 0.331126 256 53 17.1521 OR10R2 0 genome.wustl.edu 37 1 158449804 158449804 + Missense_Mutation SNP C C A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 158449804 158449804 C A SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.137 p.A46D 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 149 0 0 157 12 7.10059 SPTA1 0 genome.wustl.edu 37 1 158646087 158646087 + Splice_Site SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 158646087 158646087 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known splice_site c.958-2 e8-2 1.000 - - - no_errors SPTA1 HGNC ENSG00000163554 183 0 0 161 17 9.55056 USH2A 0 genome.wustl.edu 37 1 215901420 215901420 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 215901420 215901420 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.12018 p.P4006 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 184 0 0 147 24 14.0351 OR2AK2 0 genome.wustl.edu 37 1 248129101 248129101 + Nonsense_Mutation SNP C C A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 248129101 248129101 C A SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known nonsense c.468 p.C156* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 211 0 0 180 41 18.552 EPB41 0 genome.wustl.edu 37 1 29391555 29391555 + Missense_Mutation SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 29391555 29391555 A T SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.2069 p.K690M 1.000 pirsf_Band_41_protein,pfam_SAB_dom pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 77 0 0 73 7 8.75 POU3F1 0 genome.wustl.edu 37 1 38511541 38511541 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 1 38511541 38511541 G T SNP POU3F1 ENST00000373012 human ensembl 74_37 -1 known missense c.875 p.T292N 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 115 0 0 99 10 9.17431 FBXW4 0 genome.wustl.edu 37 10 103371080 103371080 + Missense_Mutation SNP T T A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 10 103371080 103371080 T A SNP FBXW4 ENST00000331272 human ensembl 74_37 -1 known missense c.1207 p.N403Y 0.985 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 93 0 0 68 11 13.9241 SORCS1 0 genome.wustl.edu 37 10 108389026 108389026 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 10 108389026 108389026 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2596 p.R866C 1.000 pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 37 0 0 31 5 13.8889 CDH23 0 genome.wustl.edu 37 10 73544820 73544820 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 10 73544820 73544820 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5690 p.A1897V 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 113 0 0 72 5 6.49351 MMRN2 0 genome.wustl.edu 37 10 88696877 88696877 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 10 88696877 88696877 G T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.2473 p.P825T 0.813 superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 37 0 0 35 2 5.40541 NUTM2A 0 genome.wustl.edu 37 10 88988555 88988555 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 10 88988555 88988555 C T SNP NUTM2A ENST00000381707 human ensembl 74_37 +1 known silent c.918 p.H306 0.000 NULL NULL - no_errors NUTM2A HGNC ENSG00000184923 12 0 0 6 3 33.3333 TRPC6 0 genome.wustl.edu 37 11 101347160 101347160 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 101347160 101347160 G T SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.1616 p.A539E 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 79 0 0 48 4 7.69231 MRVI1 0 genome.wustl.edu 37 11 10622545 10622545 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 10622545 10622545 G A SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.1910 p.T637M 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 354 0 0 250 28 10.0719 HINFP 0 genome.wustl.edu 37 11 119004822 119004822 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 119004822 119004822 C T SNP HINFP ENST00000350777 human ensembl 74_37 +1 known missense c.1168 p.R390W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC ENSG00000172273 84 0 0 66 11 14.2857 NLRX1 0 genome.wustl.edu 37 11 119052840 119052840 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 119052840 119052840 G A SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.2392 p.V798M 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 204 1 0.487805 182 22 10.7843 PACSIN3 0 genome.wustl.edu 37 11 47199566 47199566 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 47199566 47199566 G A SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known silent c.1191 p.D397 0.967 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 50 0 0 33 3 8.33333 OR5T3 0 genome.wustl.edu 37 11 56020552 56020552 + Missense_Mutation SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 56020552 56020552 A T SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.877 p.S293C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 141 0 0 114 8 6.55738 MALAT1 0 genome.wustl.edu 37 11 65270134 65270134 + RNA SNP T T A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 65270134 65270134 T A SNP MALAT1 ENST00000508832 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 59 0 0 51 4 7.27273 MTL5 0 genome.wustl.edu 37 11 68475799 68475799 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 68475799 68475799 A G SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known missense c.1504 p.S502P 0.999 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 94 0 0 84 6 6.66667 IGHMBP2 0 genome.wustl.edu 37 11 68673617 68673617 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 68673617 68673617 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.167 p.R56H 1.000 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 111 0 0 118 14 10.6061 DLG2 0 genome.wustl.edu 37 11 84996402 84996402 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 11 84996402 84996402 T G SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.48 p.Q16H 1.000 pfam_L27_1,pfscan_L27 pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 129 0 0 97 9 8.49057 ANO4 0 genome.wustl.edu 37 12 101333096 101333096 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 12 101333096 101333096 C T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.164 p.A55V 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 111 0 0 98 10 9.25926 MYO1H 0 genome.wustl.edu 37 12 109845697 109845697 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 12 109845697 109845697 C T SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known silent c.1086 p.I362 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,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 63 0 0 58 10 14.7059 KRAS 0 genome.wustl.edu 37 12 25378594 25378594 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 12 25378594 25378594 C G SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.404 p.R135T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,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_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 KRAS HGNC ENSG00000133703 121 0 0 408 24 5.55556 METTL3 0 genome.wustl.edu 37 14 21979360 21979360 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 14 21979360 21979360 C T SNP METTL3 ENST00000298717 human ensembl 74_37 -1 known silent c.6 p.S2 1.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL3 HGNC ENSG00000165819 19 0 0 27 2 6.89655 AKAP6 0 genome.wustl.edu 37 14 33293356 33293356 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 14 33293356 33293356 T G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.6337 p.L2113V 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 143 0 0 134 13 8.84354 GALNT16 0 genome.wustl.edu 37 14 69787487 69787487 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 14 69787487 69787487 G A SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known silent c.237 p.L79 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 122 0 0 104 6 5.45455 VASH1 0 genome.wustl.edu 37 14 77242566 77242566 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 14 77242566 77242566 G A SNP VASH1 ENST00000167106 human ensembl 74_37 +1 known missense c.862 p.D288N 1.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 32 0 0 35 4 10.2564 SNORD116-29 0 genome.wustl.edu 37 15 25351694 25351694 + RNA SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 15 25351694 25351694 A C SNP SNORD116-29 ENST00000384516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-29 HGNC ENSG00000207245 81 0 0 63 6 8.69565 MMP25 0 genome.wustl.edu 37 16 3100096 3100096 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 16 3100096 3100096 C T SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known missense c.319 p.R107W 0.336 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP25 HGNC ENSG00000008516 107 0 0 101 19 15.8333 ITGAX 0 genome.wustl.edu 37 16 31371109 31371109 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 16 31371109 31371109 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.519 p.F173 0.688 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 91 0 0 76 7 8.43373 ZNF200 0 genome.wustl.edu 37 16 3274181 3274181 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 16 3274181 3274181 C T SNP ZNF200 ENST00000414144 human ensembl 74_37 -1 known missense c.899 p.R300Q 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 122 0 0 123 9 6.81818 SLC6A10P 0 genome.wustl.edu 37 16 32894109 32894109 + RNA SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 16 32894109 32894109 C T SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors SLC6A10P HGNC ENSG00000214617 12 0 0 6 4 40 AXIN1 0 genome.wustl.edu 37 16 354351 354351 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 16 354351 354351 G A SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.1207 p.R403W 0.910 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 65 0 0 54 5 8.47458 RILP 0 genome.wustl.edu 37 17 1551670 1551670 + Silent SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 17 1551670 1551670 G T SNP RILP ENST00000301336 human ensembl 74_37 -1 known silent c.795 p.L265 1.000 pfam_RILP pfam_RILP,pfam_JNK/Rab-associated_protein-1_N - no_errors RILP HGNC ENSG00000167705 43 0 0 31 2 6.06061 ITGA2B 0 genome.wustl.edu 37 17 42455111 42455111 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 17 42455111 42455111 C T SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known silent c.2142 p.R714 0.994 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 74 0 0 70 4 5.40541 B4GALNT2 0 genome.wustl.edu 37 17 47241497 47241497 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 17 47241497 47241497 C T SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known missense c.994 p.R332C 1.000 pfam_Glyco_trans_2,pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 245 1 0.406504 199 19 8.7156 MPO 0 genome.wustl.edu 37 17 56356886 56356886 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 17 56356886 56356886 G C SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.546 p.N182K 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 31 0 0 31 3 8.82353 MGAT5B 0 genome.wustl.edu 37 17 74928759 74928759 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 17 74928759 74928759 G A SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.1357 p.V453M 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 143 0 0 105 7 6.25 MFSD6L 0 genome.wustl.edu 37 17 8701293 8701293 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 17 8701293 8701293 G A SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known silent c.1146 p.V382 0.953 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 94 0 0 74 10 11.9048 MC5R 0 genome.wustl.edu 37 18 13826438 13826438 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 18 13826438 13826438 C T SNP MC5R ENST00000324750 human ensembl 74_37 +1 known missense c.674 p.A225V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 310 0 0 247 19 7.14286 ANKRD30B 0 genome.wustl.edu 37 18 14848896 14848896 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 18 14848896 14848896 A C SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3006 p.K1002N 0.995 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 42 0 0 25 2 7.40741 ZNF521 0 genome.wustl.edu 37 18 22805350 22805350 + Silent SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 18 22805350 22805350 T G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.2532 p.T844 0.265 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 206 0 0 163 10 5.78035 PIK3C3 0 genome.wustl.edu 37 18 39618752 39618752 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 18 39618752 39618752 G A SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.1976 p.R659Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 78 0 0 58 6 9.375 COMP 0 genome.wustl.edu 37 19 18898331 18898331 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 19 18898331 18898331 G A SNP COMP ENST00000222271 human ensembl 74_37 -1 known silent c.1104 p.G368 0.845 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 209 0 0 153 10 6.13497 TSHZ3 0 genome.wustl.edu 37 19 31767522 31767522 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 19 31767522 31767522 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.3177 p.H1059 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 110 0 0 91 8 8.08081 ZNF540 0 genome.wustl.edu 37 19 38103644 38103644 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 19 38103644 38103644 T G SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known missense c.1463 p.I488S 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 106 0 0 91 10 9.90099 ANKRD24 0 genome.wustl.edu 37 19 4219595 4219595 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 19 4219595 4219595 G A SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known missense c.3011 p.R1004H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 118 0 0 98 7 6.66667 ZNF543 0 genome.wustl.edu 37 19 57839487 57839487 + Silent SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 19 57839487 57839487 G C SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known silent c.657 p.R219 0.694 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 90 0 0 77 5 6.09756 ZNF256 0 genome.wustl.edu 37 19 58452476 58452476 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 19 58452476 58452476 C G SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known missense c.1700 p.R567T 0.084 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF256 HGNC ENSG00000152454 98 0 0 73 7 8.75 SLC27A5 0 genome.wustl.edu 37 19 59010878 59010878 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 19 59010878 59010878 G A SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known missense c.1648 p.R550C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 93 0 0 85 5 5.55556 MUC16 0 genome.wustl.edu 37 19 9056390 9056390 + Silent SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 19 9056390 9056390 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.31056 p.T10352 0.093 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 110 0 0 98 7 6.66667 GPD2 0 genome.wustl.edu 37 2 157407168 157407168 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 2 157407168 157407168 C T SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known missense c.881 p.T294M 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 71 0 0 74 11 12.9412 TTN 0 genome.wustl.edu 37 2 179610671 179610671 + Missense_Mutation SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 2 179610671 179610671 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.16456 p.T5486A 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 119 0 0 91 8 8.08081 APOB 0 genome.wustl.edu 37 2 21265256 21265256 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 2 21265256 21265256 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.214 p.S72R 0.961 pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 168 0 0 134 19 12.4183 ERBB4 0 genome.wustl.edu 37 2 213403244 213403244 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 2 213403244 213403244 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.11 p.A4E 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 122 1 0.813008 121 9 6.92308 PREPL 0 genome.wustl.edu 37 2 44566387 44566387 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 2 44566387 44566387 C T SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.868 p.V290I 0.815 pfam_Pept_S9A_N pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 67 0 0 47 5 9.61538 TSPYL6 0 genome.wustl.edu 37 2 54482198 54482198 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 2 54482198 54482198 C G SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.1091 p.R364T 0.925 pfam_NAP_family pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 97 0 0 71 6 7.79221 RAB11FIP5 0 genome.wustl.edu 37 2 73316188 73316188 + Silent SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 2 73316188 73316188 G C SNP RAB11FIP5 ENST00000258098 human ensembl 74_37 -1 known silent c.687 p.G229 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP5 HGNC ENSG00000135631 148 1 0.671141 129 9 6.52174 ALMS1 0 genome.wustl.edu 37 2 73717086 73717086 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 2 73717086 73717086 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.7997 p.G2666D 0.175 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 153 0 0 109 16 12.8 ACSS1 0 genome.wustl.edu 37 20 25004206 25004206 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 20 25004206 25004206 C T SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.703 p.V235M 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 59 0 0 37 5 11.9048 BPIFB1 0 genome.wustl.edu 37 20 31878782 31878782 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 20 31878782 31878782 G A SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known missense c.385 p.V129M 0.229 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 49 0 0 30 3 9.09091 RASSF2 0 genome.wustl.edu 37 20 4771182 4771182 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 20 4771182 4771182 C T SNP RASSF2 ENST00000379376 human ensembl 74_37 -1 known missense c.452 p.R151H 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF2 HGNC ENSG00000101265 48 0 0 41 6 12.766 KRTAP13-3 0 genome.wustl.edu 37 21 31797958 31797958 + Silent SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 21 31797958 31797958 A G SNP KRTAP13-3 ENST00000390690 human ensembl 74_37 -1 known silent c.273 p.S91 0.002 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-3 HGNC ENSG00000240432 46 0 0 58 8 12.1212 ETS2 0 genome.wustl.edu 37 21 40186841 40186841 + Missense_Mutation SNP T T A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 21 40186841 40186841 T A SNP ETS2 ENST00000360214 human ensembl 74_37 +1 known missense c.441 p.F147L 0.999 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS2 HGNC ENSG00000157557 271 0 0 207 29 12.2881 POTEH 0 genome.wustl.edu 37 22 16269934 16269934 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 22 16269934 16269934 A G SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.1247 p.L416S 0.023 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 21 0 0 13 4 23.5294 GAB4 0 genome.wustl.edu 37 22 17472913 17472913 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 22 17472913 17472913 A C SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.328 p.F110V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 341 0 0 300 35 10.4478 PLA2G3 0 genome.wustl.edu 37 22 31533854 31533854 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 22 31533854 31533854 C T SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known missense c.908 p.R303Q 0.000 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 235 0 0 198 12 5.71429 TRIOBP 0 genome.wustl.edu 37 22 38120424 38120424 + Nonsense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 22 38120424 38120424 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known nonsense c.1861 p.R621* 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 153 1 0.649351 121 9 6.92308 TMPRSS7 0 genome.wustl.edu 37 3 111799889 111799889 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 111799889 111799889 C T SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known silent c.2112 p.N704 0.998 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 112 1 0.884956 86 6 6.52174 EPHB1 0 genome.wustl.edu 37 3 134920329 134920329 + Missense_Mutation SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 134920329 134920329 A T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2144 p.Q715L 1.000 pirsf_Tyr_kinase_ephrin_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_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 263 0 0 216 13 5.67686 PLSCR5 0 genome.wustl.edu 37 3 146311762 146311762 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 146311762 146311762 G C SNP PLSCR5 ENST00000443512 human ensembl 74_37 -1 known missense c.398 p.T133R 0.012 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR5 HGNC ENSG00000231213 142 0 0 97 6 5.82524 NMD3 0 genome.wustl.edu 37 3 160945104 160945104 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 160945104 160945104 G C SNP NMD3 ENST00000351193 human ensembl 74_37 +1 known missense c.249 p.L83F 1.000 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 82 0 0 62 8 11.4286 RFTN1 0 genome.wustl.edu 37 3 16419336 16419336 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 16419336 16419336 A G SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known missense c.715 p.S239P 0.002 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 67 0 0 45 7 13.4615 WDR49 0 genome.wustl.edu 37 3 167254760 167254760 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 167254760 167254760 A G SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.796 p.F266L 1.000 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,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 66 0 0 57 10 14.9254 LPP 0 genome.wustl.edu 37 3 188327328 188327328 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 188327328 188327328 G C SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.809 p.G270A 0.993 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 84 0 0 91 6 6.18557 ATP13A5 0 genome.wustl.edu 37 3 193007764 193007764 + Missense_Mutation SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 193007764 193007764 A T SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.2933 p.F978Y 0.017 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 47 0 0 43 6 12.2449 MUC4 0 genome.wustl.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 195505836 195505836 G C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12615 p.H4205Q 0.981 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 9 0 0 13 3 18.75 SCN5A 0 genome.wustl.edu 37 3 38591857 38591857 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 38591857 38591857 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.6006 p.A2002 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 144 0 0 126 8 5.97015 LRIG1 0 genome.wustl.edu 37 3 66430710 66430710 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 66430710 66430710 G C SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.3259 p.L1087V 0.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,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 LRIG1 HGNC ENSG00000144749 96 0 0 75 8 9.63855 IL17RE 0 genome.wustl.edu 37 3 9952952 9952952 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 3 9952952 9952952 A G SNP IL17RE ENST00000421412 human ensembl 74_37 +1 known missense c.1139 p.N380S 0.998 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 187 0 0 186 10 5.10204 ZNF518B 0 genome.wustl.edu 37 4 10445492 10445492 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 4 10445492 10445492 A C SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known missense c.2461 p.S821A 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 175 0 0 109 7 6.03448 SEC24B-AS1 0 genome.wustl.edu 37 4 110268661 110268661 + RNA SNP C C A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 4 110268661 110268661 C A SNP SEC24B-AS1 ENST00000499713 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors SEC24B-AS1 HGNC ENSG00000247950 26 0 0 29 4 12.1212 CWH43 0 genome.wustl.edu 37 4 49005981 49005981 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 4 49005981 49005981 C T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known silent c.1032 p.Y344 0.904 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 38 0 0 30 5 14.2857 LPHN3 0 genome.wustl.edu 37 4 62903555 62903555 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 4 62903555 62903555 G A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.3671 p.R1224H 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 99 0 0 69 7 9.21053 CYFIP2 0 genome.wustl.edu 37 5 156810315 156810315 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 156810315 156810315 A C SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.3230 p.K1077T 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 40 0 0 54 3 5.26316 FBXL7 0 genome.wustl.edu 37 5 15928114 15928114 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 15928114 15928114 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.243 p.T81 0.044 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 64 0 0 45 4 8.16327 MGAT4B 0 genome.wustl.edu 37 5 179225392 179225392 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 179225392 179225392 C T SNP MGAT4B ENST00000337755 human ensembl 74_37 -1 known missense c.1510 p.A504T 0.007 NULL pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 33 0 0 42 4 8.69565 SLC45A2 0 genome.wustl.edu 37 5 33951726 33951726 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 33951726 33951726 G A SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known silent c.1089 p.Y363 0.978 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 174 0 0 143 12 7.74194 IRX1 0 genome.wustl.edu 37 5 3599410 3599410 + Silent SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 3599410 3599410 T C SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.348 p.A116 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 73 0 0 62 4 6.06061 NADK2 0 genome.wustl.edu 37 5 36226645 36226645 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 36226645 36226645 C T SNP NADK2 ENST00000381937 human ensembl 74_37 -1 putative missense c.410 p.R137H 1.000 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ,pirsf_ATP-NAD-like_euk pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ,pirsf_ATP-NAD-like_euk - no_errors NADK2 HGNC ENSG00000152620 132 0 0 84 5 5.61798 ELOVL7 0 genome.wustl.edu 37 5 60050537 60050537 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 60050537 60050537 G T SNP ELOVL7 ENST00000425382 human ensembl 74_37 -1 known missense c.760 p.L254I 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL7 HGNC ENSG00000164181 70 0 0 42 4 8.69565 MAST4 0 genome.wustl.edu 37 5 66459277 66459277 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 66459277 66459277 G A SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.4279 p.V1427I 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 41 0 0 34 5 12.8205 CMYA5 0 genome.wustl.edu 37 5 79034738 79034738 + Missense_Mutation SNP T T A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 5 79034738 79034738 T A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.10150 p.F3384I 0.097 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 89 0 0 78 11 12.3596 ROS1 0 genome.wustl.edu 37 6 117642553 117642553 + Nonsense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 6 117642553 117642553 C T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known nonsense c.5646 p.W1882* 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 190 0 0 175 11 5.91398 HIST1H2AE 0 genome.wustl.edu 37 6 26217233 26217233 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 6 26217233 26217233 G A SNP HIST1H2AE ENST00000303910 human ensembl 74_37 +1 known missense c.31 p.A11T 0.997 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 73 0 0 56 8 12.5 GFRAL 0 genome.wustl.edu 37 6 55223692 55223692 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 6 55223692 55223692 C G SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known missense c.708 p.H236Q 0.007 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 83 0 0 56 6 9.67742 GRM8 0 genome.wustl.edu 37 7 126173574 126173574 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 7 126173574 126173574 A G SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1862 p.L621P 1.000 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C 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 93 0 0 55 9 14.0625 CNTNAP2 0 genome.wustl.edu 37 7 146997238 146997238 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 7 146997238 146997238 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1354 p.G452R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 73 0 0 72 12 14.2857 UBE3C 0 genome.wustl.edu 37 7 157046671 157046671 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 7 157046671 157046671 G A SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known silent c.2718 p.G906 0.010 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 50 0 0 32 7 17.9487 DNAH11 0 genome.wustl.edu 37 7 21847621 21847621 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 7 21847621 21847621 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.10307 p.R3436L 1.000 NULL 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 17 0 0 13 5 27.7778 GTF2IRD1 0 genome.wustl.edu 37 7 74005258 74005258 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 7 74005258 74005258 C T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.2548 p.R850W 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 107 1 0.925926 59 13 18.0556 CLDN12 0 genome.wustl.edu 37 7 90042682 90042682 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 7 90042682 90042682 C T SNP CLDN12 ENST00000287916 human ensembl 74_37 +1 known missense c.692 p.S231F 1.000 NULL prints_Claudin12 - no_errors CLDN12 HGNC ENSG00000157224 183 0 0 143 28 16.3743 ADCY8 0 genome.wustl.edu 37 8 131916210 131916210 + Missense_Mutation SNP C C A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 8 131916210 131916210 C A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1719 p.R573S 0.996 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 298 0 0 211 15 6.63717 POLE3 0 genome.wustl.edu 37 9 116172571 116172571 + Missense_Mutation SNP C C A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 116172571 116172571 C A SNP POLE3 ENST00000374169 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors POLE3 HGNC ENSG00000148229 34 0 0 29 2 6.45161 PAPPA 0 genome.wustl.edu 37 9 119114988 119114988 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 119114988 119114988 A G SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.3968 p.N1323S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,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 PAPPA HGNC ENSG00000182752 92 0 0 66 6 8.33333 PAPPA 0 genome.wustl.edu 37 9 119115107 119115107 + Nonsense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 119115107 119115107 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known nonsense c.4087 p.R1363* 0.988 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,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 PAPPA HGNC ENSG00000182752 91 0 0 70 5 6.66667 GAPVD1 0 genome.wustl.edu 37 9 128074745 128074745 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 128074745 128074745 A C SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.1456 p.S486R 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 38 0 0 25 4 13.7931 VAV2 0 genome.wustl.edu 37 9 136648670 136648670 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 136648670 136648670 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.1678 p.G560R 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 60 0 0 50 3 5.66038 PSIP1 0 genome.wustl.edu 37 9 15468792 15468792 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 15468792 15468792 A C SNP PSIP1 ENST00000380733 human ensembl 74_37 -1 known missense c.1256 p.L419W 1.000 pfam_LEDGF pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 97 0 0 50 8 13.7931 TAF1L 0 genome.wustl.edu 37 9 32632187 32632187 + Missense_Mutation SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 32632187 32632187 T C SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3391 p.K1131E 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 121 0 0 100 8 7.40741 SPATA31D1 0 genome.wustl.edu 37 9 84603746 84603746 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 84603746 84603746 C G SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.13 p.L5V 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 96 0 0 81 10 10.989 C9orf3 0 genome.wustl.edu 37 9 97535462 97535462 + RNA SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 97535462 97535462 G C SNP C9orf3 ENST00000489318 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors C9orf3 HGNC ENSG00000148120 129 0 0 117 13 10 MID1 0 genome.wustl.edu 37 X 10450560 10450560 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b X 10450560 10450560 G A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known missense c.973 p.H325Y 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 223 0 0 162 9 5.26316 KLHL13 0 genome.wustl.edu 37 X 117033040 117033040 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b X 117033040 117033040 C T SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known missense c.1808 p.R603H 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 192 0 0 167 18 9.72973 NAP1L3 0 genome.wustl.edu 37 X 92928030 92928030 + Silent SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b X 92928030 92928030 A G SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known silent c.274 p.L92 0.000 NULL pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 42 0 0 36 6 14.2857 ANKMY2 0 genome.wustl.edu 37 7 16676082 16676083 + Splice_Site INS - - A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 7 16676082 16676083 - A INS ANKMY2 ENST00000306999 human ensembl 74_37 -1 known splice_site_ins c.68-3_68-2 e2-2 0.833:0.000 - - - no_errors ANKMY2 HGNC ENSG00000106524 12 0 0 15 4 21.0526 CNTRL 0 genome.wustl.edu 37 9 123875984 123875985 + Frame_Shift_Ins INS - - A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b 9 123875984 123875985 - A INS CNTRL ENST00000238341 human ensembl 74_37 +1 known frame_shift_ins c.1327_1328 p.I446fs 0.994:0.553 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 51 0 0 35 2 5.40541