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 SLC35A3 0 genome.wustl.edu 37 1 100483314 100483314 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 100483314 100483314 C T SNP SLC35A3 ENST00000370153 human ensembl 74_37 +1 known missense c.956 p.S319L 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC ENSG00000117620 66 0 0 50 5 9.09091 CELSR2 0 genome.wustl.edu 37 1 109811843 109811843 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 109811843 109811843 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6743 p.S2248N 0.994 pfam_DUF3497 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 CELSR2 HGNC ENSG00000143126 55 0 0 46 3 6.12245 CYB561D1 0 genome.wustl.edu 37 1 110038475 110038475 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 110038475 110038475 C T SNP CYB561D1 ENST00000310611 human ensembl 74_37 +1 known nonsense c.388 p.Q130* 0.009 NULL NULL - no_errors CYB561D1 HGNC ENSG00000174151 231 0 0 223 44 16.4794 KCNA3 0 genome.wustl.edu 37 1 111216271 111216271 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 111216271 111216271 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.1161 p.L387 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 132 1 0.75188 114 19 14.2857 MTOR 0 genome.wustl.edu 37 1 11184566 11184566 + Silent SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 11184566 11184566 C G SNP MTOR ENST00000361445 human ensembl 74_37 -1 known silent c.6651 p.R2217 0.994 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 80 0 0 54 10 15.625 WNT2B 0 genome.wustl.edu 37 1 113059876 113059876 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 113059876 113059876 C A SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.815 p.A272D 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 64 0 0 55 10 15.3846 MOV10 0 genome.wustl.edu 37 1 113232051 113232051 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 113232051 113232051 A G SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.356 p.H119R 0.879 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 110 0 0 100 6 5.66038 MOV10 0 genome.wustl.edu 37 1 113237131 113237131 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 113237131 113237131 G A SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.1352 p.R451H 1.000 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 69 0 0 56 13 18.8406 MFN2 0 genome.wustl.edu 37 1 12052744 12052744 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 12052744 12052744 G T SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.308 p.G103V 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 218 0 0 188 33 14.9321 VPS13D 0 genome.wustl.edu 37 1 12328778 12328778 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 12328778 12328778 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.1817 p.G606D 0.979 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 371 0 0 304 47 13.3903 ATAD3C 0 genome.wustl.edu 37 1 1397981 1397981 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 1397981 1397981 C T SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known missense c.982 p.R328C 1.000 superfamily_P-loop_NTPase pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 23 0 0 20 3 13.0435 ENSG00000255168 0 genome.wustl.edu 37 1 145273302 145273302 + Silent SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 145273302 145273302 A T SNP ENSG00000255168 ENST00000468030 human ensembl 74_37 +1 known silent c.156 p.R52 0.989 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors RP11-458D21.5 Clone_based_vega_gene ENSG00000255168 376 0 0 348 23 6.19946 SETDB1 0 genome.wustl.edu 37 1 150917632 150917632 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 150917632 150917632 A G SNP SETDB1 ENST00000368962 human ensembl 74_37 +1 known silent c.1188 p.G396 0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 32 0 0 30 4 11.7647 RORC 0 genome.wustl.edu 37 1 151785852 151785852 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 151785852 151785852 C T SNP RORC ENST00000480719 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RORC HGNC ENSG00000143365 152 1 0.653595 117 26 18.1818 NBPF18P 0 genome.wustl.edu 37 1 151991166 151991166 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 151991166 151991166 G A SNP NBPF18P ENST00000432386 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors NBPF18P HGNC ENSG00000229021 80 0 0 63 10 13.6986 FLG 0 genome.wustl.edu 37 1 152283879 152283879 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 152283879 152283879 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.3483 p.G1161 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 743 1 0.134409 605 90 12.9496 FLG2 0 genome.wustl.edu 37 1 152329960 152329960 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 152329960 152329960 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.302 p.K101R 0.993 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 88 0 0 74 19 20.4301 KAZN 0 genome.wustl.edu 37 1 15370596 15370596 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 15370596 15370596 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.667 p.R223C 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 82 0 0 57 24 29.6296 EFNA1 0 genome.wustl.edu 37 1 155103820 155103820 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 155103820 155103820 G A SNP EFNA1 ENST00000368407 human ensembl 74_37 +1 known missense c.98 p.R33Q 0.857 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA1 HGNC ENSG00000169242 84 0 0 71 6 7.79221 PKLR 0 genome.wustl.edu 37 1 155263247 155263247 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 155263247 155263247 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known silent c.1251 p.A417 0.802 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 57 0 0 44 10 18.5185 PKLR 0 genome.wustl.edu 37 1 155264098 155264098 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 155264098 155264098 C A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.1044 p.K348N 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 68 0 0 39 14 26.4151 FCRL3 0 genome.wustl.edu 37 1 157667456 157667456 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 157667456 157667456 T G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.552 p.Q184H 0.044 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 81 0 0 79 17 17.7083 CD1D 0 genome.wustl.edu 37 1 158151478 158151478 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 158151478 158151478 G A SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.295 p.V99M 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 81 0 0 68 16 19.0476 CCDC19 0 genome.wustl.edu 37 1 159857704 159857704 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 159857704 159857704 C T SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.515 p.R172Q 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 238 1 0.41841 174 47 21.267 ATP1A4 0 genome.wustl.edu 37 1 160137172 160137172 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 160137172 160137172 G T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.1461 p.E487D 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 173 0 0 174 10 5.43478 SLAMF1 0 genome.wustl.edu 37 1 160607007 160607007 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 160607007 160607007 C T SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known missense c.389 p.R130H 0.000 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 118 0 0 102 19 15.7025 USP21 0 genome.wustl.edu 37 1 161133376 161133376 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 161133376 161133376 C T SNP USP21 ENST00000289865 human ensembl 74_37 +1 known missense c.1081 p.R361C 0.994 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 85 0 0 67 5 6.94444 TOMM40L 0 genome.wustl.edu 37 1 161198233 161198233 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 161198233 161198233 C A SNP TOMM40L ENST00000367987 human ensembl 74_37 +1 known missense c.623 p.A208D 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40 - no_errors TOMM40L HGNC ENSG00000158882 85 0 0 67 7 9.45946 HSPA6 0 genome.wustl.edu 37 1 161495324 161495324 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 161495324 161495324 C T SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known silent c.876 p.G292 0.987 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 37 0 0 27 9 25 SPEN 0 genome.wustl.edu 37 1 16265849 16265849 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 16265849 16265849 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.10922 p.R3641H 0.974 superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 270 0 0 214 58 21.3235 F5 0 genome.wustl.edu 37 1 169541498 169541498 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 169541498 169541498 T C SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.334 p.I112V 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 48 0 0 38 11 22.449 DNM3 0 genome.wustl.edu 37 1 172002361 172002361 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 172002361 172002361 G A SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.805 p.A269T 1.000 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 22 0 0 19 4 17.3913 C1orf105 0 genome.wustl.edu 37 1 172431363 172431363 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 172431363 172431363 T G SNP C1orf105 ENST00000367727 human ensembl 74_37 +1 known missense c.319 p.F107V 0.755 NULL NULL - no_errors C1orf105 HGNC ENSG00000180999 44 0 0 19 6 24 NPHS2 0 genome.wustl.edu 37 1 179526176 179526176 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 179526176 179526176 C T SNP NPHS2 ENST00000367615 human ensembl 74_37 -1 known missense c.724 p.A242T 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 33 0 0 31 7 18.4211 ARHGEF10L 0 genome.wustl.edu 37 1 18014124 18014124 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 18014124 18014124 G A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known silent c.3066 p.A1022 0.008 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 74 0 0 62 19 23.4568 CACNA1E 0 genome.wustl.edu 37 1 181701981 181701981 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 181701981 181701981 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.2759 p.R920H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 152 0 0 110 11 9.09091 TPR 0 genome.wustl.edu 37 1 186302450 186302450 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 186302450 186302450 A C SNP TPR ENST00000367478 human ensembl 74_37 -1 known silent c.5259 p.P1753 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 83 0 0 79 16 16.8421 UBR4 0 genome.wustl.edu 37 1 19404515 19404515 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 19404515 19404515 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.15279 p.S5093 0.994 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 50 0 0 38 9 19.1489 F13B 0 genome.wustl.edu 37 1 197032103 197032103 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 197032103 197032103 C T SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.149 p.S50N 0.044 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 227 0 0 169 28 14.2132 DENND1B 0 genome.wustl.edu 37 1 197621390 197621390 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 197621390 197621390 G A SNP DENND1B ENST00000367396 human ensembl 74_37 -1 known missense c.422 p.A141V 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 47 0 0 41 5 10.8696 PTPRC 0 genome.wustl.edu 37 1 198711490 198711490 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 198711490 198711490 A C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2691 p.Q897H 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 111 0 0 101 21 17.2131 ELF3 0 genome.wustl.edu 37 1 201983058 201983058 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 201983058 201983058 T A SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.907 p.F303I 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 31 0 0 31 8 20.5128 KDM5B 0 genome.wustl.edu 37 1 202702738 202702738 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 202702738 202702738 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.3808 p.P1270S 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 110 0 0 68 16 19.0476 ATP2B4 0 genome.wustl.edu 37 1 203669950 203669950 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 203669950 203669950 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.800 p.G267D 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 111 0 0 94 16 14.5455 MDM4 0 genome.wustl.edu 37 1 204506617 204506617 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 204506617 204506617 C A SNP MDM4 ENST00000367182 human ensembl 74_37 +1 known missense c.403 p.Q135K 1.000 pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM4 HGNC ENSG00000198625 132 0 0 111 32 22.3776 LRRN2 0 genome.wustl.edu 37 1 204588433 204588433 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 204588433 204588433 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.688 p.D230N 0.994 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 81 0 0 64 12 15.7895 SLC41A1 0 genome.wustl.edu 37 1 205764510 205764510 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 205764510 205764510 C T SNP SLC41A1 ENST00000367137 human ensembl 74_37 -1 known missense c.1169 p.R390H 1.000 pfam_SLC41_membr_dom pfam_SLC41_membr_dom - no_errors SLC41A1 HGNC ENSG00000133065 48 0 0 42 11 20.7547 AVPR1B 0 genome.wustl.edu 37 1 206225358 206225358 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 206225358 206225358 G A SNP AVPR1B ENST00000367126 human ensembl 74_37 +1 known nonsense c.918 p.W306* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 95 0 0 88 22 20 PFKFB2 0 genome.wustl.edu 37 1 207240864 207240864 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 207240864 207240864 T C SNP PFKFB2 ENST00000367080 human ensembl 74_37 +1 known missense c.653 p.V218A 1.000 pfam_6Phosfructo_kin,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 PFKFB2 HGNC ENSG00000123836 106 0 0 95 6 5.94059 KIF17 0 genome.wustl.edu 37 1 20998683 20998683 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 20998683 20998683 C T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.2470 p.A824T 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 47 0 0 46 6 11.5385 C1orf86 0 genome.wustl.edu 37 1 2116304 2116304 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 2116304 2116304 C T SNP C1orf86 ENST00000469733 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf86 HGNC ENSG00000162585 12 0 0 8 5 38.4615 GPATCH2 0 genome.wustl.edu 37 1 217671763 217671763 + RNA SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 217671763 217671763 A G SNP GPATCH2 ENST00000489246 human ensembl 74_37 -1 known rna NULL NULL 0.731 - - - no_errors GPATCH2 HGNC ENSG00000092978 163 0 0 128 32 20 RAP1GAP 0 genome.wustl.edu 37 1 21929337 21929337 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 21929337 21929337 C T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1690 p.A564T 1.000 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 82 0 0 75 6 7.40741 BROX 0 genome.wustl.edu 37 1 222889118 222889118 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 222889118 222889118 G A SNP BROX ENST00000539697 human ensembl 74_37 +1 known missense c.77 p.G26D 0.044 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 69 0 0 60 16 21.0526 BROX 0 genome.wustl.edu 37 1 222898880 222898880 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 222898880 222898880 A G SNP BROX ENST00000539697 human ensembl 74_37 +1 known missense c.467 p.Q156R 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 33 0 0 22 3 12 DISP1 0 genome.wustl.edu 37 1 223177973 223177973 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 223177973 223177973 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3234 p.R1078 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 82 0 0 74 7 8.64198 CNIH3 0 genome.wustl.edu 37 1 224922304 224922304 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 224922304 224922304 C T SNP CNIH3 ENST00000272133 human ensembl 74_37 +1 known silent c.351 p.Y117 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 102 0 0 89 14 13.5922 GJC2 0 genome.wustl.edu 37 1 228345675 228345675 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 228345675 228345675 G A SNP GJC2 ENST00000366714 human ensembl 74_37 +1 known silent c.216 p.A72 0.955 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 46 0 0 29 12 29.2683 PCNXL2 0 genome.wustl.edu 37 1 233397834 233397834 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 233397834 233397834 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.437 p.S146F 0.930 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 171 0 0 145 28 16.185 TARBP1 0 genome.wustl.edu 37 1 234569180 234569180 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 234569180 234569180 A T SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.2370 p.H790Q 0.982 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 71 0 0 48 18 27.2727 HTR1D 0 genome.wustl.edu 37 1 23520100 23520100 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 23520100 23520100 C A SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.613 p.A205S 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_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 65 0 0 54 6 10 NID1 0 genome.wustl.edu 37 1 236189263 236189263 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 236189263 236189263 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.1917 p.F639 0.958 superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 242 1 0.411523 180 37 17.0507 HEATR1 0 genome.wustl.edu 37 1 236766615 236766615 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 236766615 236766615 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.204 p.P68 0.000 NULL pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 96 0 0 91 10 9.90099 EXO1 0 genome.wustl.edu 37 1 242035442 242035442 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 242035442 242035442 T C SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1376 p.F459S 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 52 0 0 32 12 27.2727 KIF26B 0 genome.wustl.edu 37 1 245850169 245850169 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 245850169 245850169 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3884 p.C1295Y 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 41 0 0 29 4 12.1212 GRHL3 0 genome.wustl.edu 37 1 24663276 24663276 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 24663276 24663276 C T SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known missense c.571 p.R191C 1.000 NULL pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 154 0 0 119 23 16.1972 OR2W5 0 genome.wustl.edu 37 1 247654805 247654805 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 247654805 247654805 G A SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.412 - - - no_errors OR2W5 HGNC ENSG00000203664 102 0 0 64 19 22.8916 OR2L8 0 genome.wustl.edu 37 1 248112658 248112658 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 248112658 248112658 T C SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.499 p.Y167H 0.734 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 166 0 0 117 17 12.6866 OR2L5 0 genome.wustl.edu 37 1 248186033 248186033 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 248186033 248186033 A C SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known silent c.784 p.R262 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 139 0 0 117 21 15.2174 OR2M5 0 genome.wustl.edu 37 1 248309379 248309379 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 248309379 248309379 T C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.930 p.C310 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 84 0 0 47 18 27.6923 OR2T33 0 genome.wustl.edu 37 1 248436684 248436684 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 248436684 248436684 A G SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.433 p.S145P 0.000 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 270 1 0.369004 236 21 8.17121 SRRM1 0 genome.wustl.edu 37 1 24995891 24995891 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 24995891 24995891 G A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2053 p.A685T 0.958 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 59 0 0 48 7 12.7273 SLC9A1 0 genome.wustl.edu 37 1 27436018 27436018 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 27436018 27436018 G A SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.1064 p.A355V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 125 0 0 98 26 20.9677 WDTC1 0 genome.wustl.edu 37 1 27614178 27614178 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 27614178 27614178 C G SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.305 p.A102G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 43 0 0 32 5 13.5135 PRDM16 0 genome.wustl.edu 37 1 3322154 3322154 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 3322154 3322154 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.1128 p.A376 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 105 0 0 63 15 19.2308 RNF19B 0 genome.wustl.edu 37 1 33402626 33402626 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 33402626 33402626 A G SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known silent c.1980 p.P660 0.698 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 153 0 0 127 10 7.29927 CSMD2 0 genome.wustl.edu 37 1 34076667 34076667 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 34076667 34076667 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.6317 p.R2106Q 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 CSMD2 HGNC ENSG00000121904 79 0 0 54 7 11.4754 GJA4 0 genome.wustl.edu 37 1 35259929 35259929 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 35259929 35259929 C A SNP GJA4 ENST00000342280 human ensembl 74_37 +1 known missense c.115 p.L39M 0.266 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 168 0 0 132 16 10.8108 TFAP2E 0 genome.wustl.edu 37 1 36040586 36040586 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 36040586 36040586 T A SNP TFAP2E ENST00000373235 human ensembl 74_37 +1 known missense c.547 p.S183T 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2E HGNC ENSG00000116819 120 0 0 100 26 20.6349 OSCP1 0 genome.wustl.edu 37 1 36915870 36915870 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 36915870 36915870 T G SNP OSCP1 ENST00000235532 human ensembl 74_37 -1 known missense c.101 p.K34T 1.000 pfam_OSCP1 pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 81 0 0 67 8 10.6667 SF3A3 0 genome.wustl.edu 37 1 38455654 38455654 + RNA SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 38455654 38455654 C A SNP SF3A3 ENST00000461869 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SF3A3 HGNC ENSG00000183431 90 0 0 73 29 28.4314 RHBDL2 0 genome.wustl.edu 37 1 39358878 39358878 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 39358878 39358878 G T SNP RHBDL2 ENST00000372985 human ensembl 74_37 -1 known missense c.868 p.P290T 1.000 pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL2 HGNC ENSG00000158315 27 0 0 34 5 12.8205 MACF1 0 genome.wustl.edu 37 1 39823348 39823348 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 39823348 39823348 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.5540 p.S1847N 0.257 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 69 0 0 65 15 18.75 MACF1 0 genome.wustl.edu 37 1 39919406 39919406 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 39919406 39919406 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.14593 p.R4865* 0.993 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 199 0 0 161 49 23.3333 EXO5 0 genome.wustl.edu 37 1 40980785 40980785 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 40980785 40980785 G A SNP EXO5 ENST00000296380 human ensembl 74_37 +1 known missense c.569 p.G190E 1.000 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 121 0 0 106 21 16.5354 HIVEP3 0 genome.wustl.edu 37 1 41979370 41979370 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 41979370 41979370 G T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.5522 p.A1841D 0.938 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 56 0 0 32 11 25.5814 POMGNT1 0 genome.wustl.edu 37 1 46661685 46661685 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 46661685 46661685 G A SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known missense c.419 p.T140M 1.000 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 98 0 0 67 15 18.2927 CYP4A11 0 genome.wustl.edu 37 1 47401267 47401267 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 47401267 47401267 T C SNP CYP4A11 ENST00000371904 human ensembl 74_37 -1 known missense c.563 p.H188R 0.012 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 105 0 0 52 14 21.2121 CYP4X1 0 genome.wustl.edu 37 1 47512186 47512186 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 47512186 47512186 C T SNP CYP4X1 ENST00000371901 human ensembl 74_37 +1 known missense c.1121 p.T374M 0.010 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 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 CYP4X1 HGNC ENSG00000186377 84 0 0 79 23 22.549 ECHDC2 0 genome.wustl.edu 37 1 53364883 53364883 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 53364883 53364883 A G SNP ECHDC2 ENST00000371522 human ensembl 74_37 -1 known missense c.716 p.V239A 1.000 NULL pfam_Crotonase_core_superfam - no_errors ECHDC2 HGNC ENSG00000121310 73 0 0 64 11 14.6667 ECHDC2 0 genome.wustl.edu 37 1 53377251 53377251 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 53377251 53377251 G A SNP ECHDC2 ENST00000371522 human ensembl 74_37 -1 known silent c.264 p.G88 0.061 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECHDC2 HGNC ENSG00000121310 90 0 0 76 13 14.6067 HSPB11 0 genome.wustl.edu 37 1 54387300 54387300 + RNA SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 54387300 54387300 T G SNP HSPB11 ENST00000489675 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors HSPB11 HGNC ENSG00000081870 56 0 0 44 8 15.3846 C1orf177 0 genome.wustl.edu 37 1 55277501 55277501 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 55277501 55277501 A C SNP C1orf177 ENST00000371273 human ensembl 74_37 +1 known missense c.515 p.K172T 0.927 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 72 0 0 50 12 19.3548 PCSK9 0 genome.wustl.edu 37 1 55512210 55512210 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 55512210 55512210 C A SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known silent c.414 p.P138 0.987 pfam_Inhibitor_I9,superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 103 1 0.961538 95 8 7.76699 DAB1 0 genome.wustl.edu 37 1 57489218 57489218 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 57489218 57489218 G A SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.980 p.A327V 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 34 0 0 24 3 11.1111 RPL22 0 genome.wustl.edu 37 1 6246782 6246782 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 6246782 6246782 G A SNP RPL22 ENST00000234875 human ensembl 74_37 -1 known missense c.337 p.R113C 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 24 0 0 17 6 26.087 GPR153 0 genome.wustl.edu 37 1 6314182 6314182 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 6314182 6314182 C T SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known missense c.382 p.V128M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 85 0 0 64 14 17.9487 PDE4B 0 genome.wustl.edu 37 1 66833502 66833502 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 66833502 66833502 G A SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known missense c.1508 p.R503H 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 134 0 0 91 17 15.7407 WDR78 0 genome.wustl.edu 37 1 67306239 67306239 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 67306239 67306239 G A SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known silent c.1407 p.P469 0.981 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 114 0 0 82 16 16.3265 FPGT 0 genome.wustl.edu 37 1 74670742 74670742 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 74670742 74670742 A G SNP FPGT ENST00000370898 human ensembl 74_37 +1 known missense c.1050 p.I350M 0.994 pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 95 0 0 63 8 11.2676 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74835236 74835236 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 74835236 74835236 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1976 p.G659D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 266 0 0 215 32 12.9555 RERE 0 genome.wustl.edu 37 1 8419854 8419854 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 8419854 8419854 T C SNP RERE ENST00000337907 human ensembl 74_37 -1 known silent c.3588 p.R1196 0.122 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 31 0 0 36 8 18.1818 ABCA4 0 genome.wustl.edu 37 1 94564484 94564484 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 94564484 94564484 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.634 p.R212C 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 54 0 0 47 10 17.5439 TMEM201 0 genome.wustl.edu 37 1 9655959 9655959 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 9655959 9655959 C T SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known missense c.125 p.T42M 0.530 NULL pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 54 0 0 31 5 13.8889 AGRN 0 genome.wustl.edu 37 1 980635 980635 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 980635 980635 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.2349 p.G783 0.254 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 35 0 0 16 3 15.7895 HPS1 0 genome.wustl.edu 37 10 100185471 100185471 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 100185471 100185471 T A SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known missense c.1162 p.S388C 0.953 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 81 0 0 51 12 19.0476 SEMA4G 0 genome.wustl.edu 37 10 102743183 102743183 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 102743183 102743183 C T SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known silent c.1827 p.S609 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4G HGNC ENSG00000095539 41 0 0 32 7 17.9487 C10orf2 0 genome.wustl.edu 37 10 102748165 102748165 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 102748165 102748165 G A SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known silent c.198 p.G66 0.001 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 174 0 0 153 36 19.0476 TLX1NB 0 genome.wustl.edu 37 10 102849604 102849604 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 102849604 102849604 T G SNP TLX1NB ENST00000445873 human ensembl 74_37 -1 novel missense c.59 p.H20P 0.130 NULL NULL - no_errors TLX1NB HGNC ENSG00000236311 22 0 0 23 3 11.5385 DPCD 0 genome.wustl.edu 37 10 103360573 103360573 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 103360573 103360573 G A SNP DPCD ENST00000370151 human ensembl 74_37 +1 known missense c.224 p.G75E 0.750 NULL NULL - no_errors DPCD HGNC ENSG00000166171 95 0 0 82 10 10.8696 CNNM2 0 genome.wustl.edu 37 10 104679834 104679834 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 104679834 104679834 G A SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.1597 p.A533T 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 187 0 0 133 34 20.3593 SLK 0 genome.wustl.edu 37 10 105761303 105761303 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 105761303 105761303 T C SNP SLK ENST00000369755 human ensembl 74_37 +1 known silent c.966 p.D322 1.000 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 41 0 0 32 11 25.5814 ITPRIP 0 genome.wustl.edu 37 10 106075805 106075805 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 106075805 106075805 G A SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known missense c.5 p.A2V 0.871 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 38 0 0 14 4 22.2222 PDCD4 0 genome.wustl.edu 37 10 112647471 112647471 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 112647471 112647471 G A SNP PDCD4 ENST00000280154 human ensembl 74_37 +1 known missense c.604 p.V202M 0.998 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC ENSG00000150593 115 0 0 78 15 16.129 HABP2 0 genome.wustl.edu 37 10 115336940 115336940 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 115336940 115336940 C T SNP HABP2 ENST00000537906 human ensembl 74_37 +1 known missense c.329 p.A110V 0.927 NULL NULL - no_errors HABP2 HGNC ENSG00000148702 111 0 0 87 10 10.3093 PNLIP 0 genome.wustl.edu 37 10 118306822 118306822 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 118306822 118306822 C T SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known silent c.63 p.Y21 0.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 93 0 0 78 17 17.8947 HTRA1 0 genome.wustl.edu 37 10 124249045 124249045 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 124249045 124249045 G A SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.680 p.R227Q 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 120 0 0 82 26 24.0741 UROS 0 genome.wustl.edu 37 10 127477552 127477552 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 127477552 127477552 G A SNP UROS ENST00000368786 human ensembl 74_37 -1 known missense c.683 p.T228M 0.998 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 84 0 0 66 14 17.5 MKI67 0 genome.wustl.edu 37 10 129902596 129902596 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 129902596 129902596 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.7508 p.R2503Q 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 291 0 0 221 48 17.8439 DNAJC1 0 genome.wustl.edu 37 10 22048374 22048374 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 22048374 22048374 G A SNP DNAJC1 ENST00000376980 human ensembl 74_37 -1 known missense c.1321 p.R441W 0.349 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 81 0 0 60 15 20 MASTL 0 genome.wustl.edu 37 10 27454412 27454412 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 27454412 27454412 C A SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.755 p.P252H 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 108 0 0 98 21 17.6471 ZNF438 0 genome.wustl.edu 37 10 31134032 31134032 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 31134032 31134032 G A SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.2345 p.A782V 0.022 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 253 1 0.393701 201 54 21.1765 CUL2 0 genome.wustl.edu 37 10 35317808 35317808 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 35317808 35317808 G A SNP CUL2 ENST00000537177 human ensembl 74_37 -1 known missense c.1604 p.A535V 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 32 0 0 22 6 21.4286 FRMPD2 0 genome.wustl.edu 37 10 49446167 49446167 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 49446167 49446167 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known splice_site c.789-1 e8-1 0.895 - - - no_errors FRMPD2 HGNC ENSG00000170324 72 0 0 65 14 17.7215 AKR1C3 0 genome.wustl.edu 37 10 5141002 5141002 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 5141002 5141002 G T SNP AKR1C3 ENST00000380554 human ensembl 74_37 +1 known missense c.378 p.E126D 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C3 HGNC ENSG00000196139 62 0 0 48 11 18.6441 PRKG1 0 genome.wustl.edu 37 10 53227559 53227559 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 53227559 53227559 T C SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known silent c.555 p.A185 0.877 pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 74 0 0 91 10 9.90099 DKK1 0 genome.wustl.edu 37 10 54074759 54074759 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 54074759 54074759 G A SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.320 p.G107D 0.094 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 34 0 0 18 3 14.2857 FAM208B 0 genome.wustl.edu 37 10 5800957 5800957 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 5800957 5800957 T C SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known splice_site c.6992+2 e15+2 1.000 - - - no_errors FAM208B HGNC ENSG00000108021 50 0 0 40 9 18.3673 IL15RA 0 genome.wustl.edu 37 10 5995102 5995102 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 5995102 5995102 T G SNP IL15RA ENST00000379977 human ensembl 74_37 -1 known missense c.760 p.S254R 0.000 NULL superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL15RA HGNC ENSG00000134470 152 0 0 103 15 12.7119 BICC1 0 genome.wustl.edu 37 10 60553279 60553279 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 60553279 60553279 G T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.1083 p.K361N 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 57 0 0 63 9 12.5 ANK3 0 genome.wustl.edu 37 10 62023723 62023723 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 62023723 62023723 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.569 p.S190L 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 57 0 0 41 6 12.766 TMEM26 0 genome.wustl.edu 37 10 63170171 63170171 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 63170171 63170171 T C SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known missense c.1016 p.Q339R 0.000 NULL pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 69 0 0 58 11 15.942 ZNF365 0 genome.wustl.edu 37 10 64136602 64136602 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 64136602 64136602 C T SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known missense c.650 p.A217V 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 186 0 0 148 30 16.8539 PBLD 0 genome.wustl.edu 37 10 70056045 70056045 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 70056045 70056045 T C SNP PBLD ENST00000309049 human ensembl 74_37 -1 known silent c.261 p.A87 0.833 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 51 0 0 29 13 30.9524 TSPAN15 0 genome.wustl.edu 37 10 71243561 71243561 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 71243561 71243561 G A SNP TSPAN15 ENST00000373290 human ensembl 74_37 +1 known missense c.211 p.V71I 0.037 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN15 HGNC ENSG00000099282 89 0 0 61 25 29.0698 TYSND1 0 genome.wustl.edu 37 10 71902509 71902509 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 71902509 71902509 C T SNP TYSND1 ENST00000287078 human ensembl 74_37 -1 known silent c.1398 p.T466 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_Tysnd1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_Tysnd1 - no_errors TYSND1 HGNC ENSG00000156521 60 0 0 50 5 9.09091 SLC29A3 0 genome.wustl.edu 37 10 73116008 73116008 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 73116008 73116008 T C SNP SLC29A3 ENST00000469204 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.012 - - - no_errors SLC29A3 HGNC ENSG00000198246 82 0 0 65 4 5.7971 POLR3A 0 genome.wustl.edu 37 10 79741970 79741970 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 79741970 79741970 G A SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.3701 p.A1234V 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 85 0 0 64 15 18.9873 NRG3 0 genome.wustl.edu 37 10 84744984 84744984 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 84744984 84744984 A G SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1786 p.S596G 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 268 0 0 184 36 16.3636 WAPAL 0 genome.wustl.edu 37 10 88259864 88259864 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 88259864 88259864 C T SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known missense c.1136 p.R379H 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 74 0 0 72 16 18.1818 LARP4B 0 genome.wustl.edu 37 10 909765 909765 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 909765 909765 C T SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known silent c.348 p.P116 0.012 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 114 0 0 84 22 20.7547 CPEB3 0 genome.wustl.edu 37 10 93999718 93999718 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 93999718 93999718 G T SNP CPEB3 ENST00000265997 human ensembl 74_37 -1 known silent c.390 p.V130 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC ENSG00000107864 42 0 0 41 6 12.766 SLC35G1 0 genome.wustl.edu 37 10 95660776 95660776 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 95660776 95660776 C T SNP SLC35G1 ENST00000427197 human ensembl 74_37 +1 known silent c.627 p.S209 0.458 NULL pfam_DMT - no_errors SLC35G1 HGNC ENSG00000176273 64 0 0 45 9 16.6667 SORBS1 0 genome.wustl.edu 37 10 97101123 97101123 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 97101123 97101123 T C SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known silent c.3369 p.P1123 0.702 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 151 0 0 101 25 19.8413 TM9SF3 0 genome.wustl.edu 37 10 98287262 98287262 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 98287262 98287262 G A SNP TM9SF3 ENST00000485093 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TM9SF3 HGNC ENSG00000077147 49 0 0 34 5 12.8205 PI4K2A 0 genome.wustl.edu 37 10 99361742 99361742 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 99361742 99361742 G A SNP PI4K2A ENST00000555577 human ensembl 74_37 +1 known missense c.340 p.A114T 0.633 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 27 0 0 31 9 22.5 PGR 0 genome.wustl.edu 37 11 100909916 100909916 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 100909916 100909916 T G SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.2733 p.E911D 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 60 0 0 51 13 20.3125 TRPC6 0 genome.wustl.edu 37 11 101375456 101375456 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 101375456 101375456 G A SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known nonsense c.244 p.R82* 1.000 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 177 0 0 136 30 18.0723 SIK2 0 genome.wustl.edu 37 11 111594498 111594498 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 111594498 111594498 G A SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.2426 p.R809Q 0.004 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 243 0 0 173 40 18.7793 DIXDC1 0 genome.wustl.edu 37 11 111866267 111866267 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 111866267 111866267 G A SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known silent c.1665 p.T555 0.412 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 106 0 0 90 17 15.8879 HTR3A 0 genome.wustl.edu 37 11 113857293 113857293 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 113857293 113857293 C A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.777 p.S259R 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 100 0 0 115 11 8.73016 CEP164 0 genome.wustl.edu 37 11 117280458 117280458 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 117280458 117280458 G A SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.3873 p.P1291 0.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 312 0 0 212 52 19.697 KMT2A 0 genome.wustl.edu 37 11 118373724 118373724 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 118373724 118373724 C A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.7108 p.L2370I 0.790 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 85 0 0 71 18 20.2247 HYOU1 0 genome.wustl.edu 37 11 118919524 118919524 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 118919524 118919524 G A SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known silent c.2067 p.P689 0.022 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 83 0 0 65 19 22.619 VPS11 0 genome.wustl.edu 37 11 118942339 118942339 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 118942339 118942339 G A SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known missense c.667 p.V223M 0.279 superfamily_WD40_repeat_dom,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 62 0 0 57 3 5 C2CD2L 0 genome.wustl.edu 37 11 118983195 118983195 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 118983195 118983195 A G SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.1088 p.E363G 0.835 superfamily_C2_dom superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 107 0 0 100 14 12.2807 PVRL1 0 genome.wustl.edu 37 11 119535676 119535676 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 119535676 119535676 G A SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known silent c.1335 p.G445 0.887 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 50 0 0 31 6 16.2162 PVRL1 0 genome.wustl.edu 37 11 119549297 119549297 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 119549297 119549297 G A SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known silent c.258 p.G86 0.024 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 51 0 0 29 9 23.6842 OR6M1 0 genome.wustl.edu 37 11 123676666 123676666 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 123676666 123676666 G A SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.392 p.T131M 0.017 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 OR6M1 HGNC ENSG00000196099 54 0 0 43 11 20.3704 OR8B8 0 genome.wustl.edu 37 11 124310482 124310482 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 124310482 124310482 G A SNP OR8B8 ENST00000328064 human ensembl 74_37 -1 known missense c.500 p.T167I 0.831 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 88 0 0 49 13 20.9677 SRPR 0 genome.wustl.edu 37 11 126136758 126136758 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 126136758 126136758 C T SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.586 p.V196M 0.066 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 119 0 0 117 29 19.863 FOXRED1 0 genome.wustl.edu 37 11 126146096 126146096 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 126146096 126146096 C A SNP FOXRED1 ENST00000263578 human ensembl 74_37 +1 known missense c.953 p.P318H 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 22 0 0 18 4 18.1818 KIRREL3 0 genome.wustl.edu 37 11 126314938 126314938 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 126314938 126314938 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.1188 p.Y396 0.970 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 85 0 0 84 13 13.4021 NFRKB 0 genome.wustl.edu 37 11 129739602 129739602 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 129739602 129739602 G A SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.3393 p.T1131 0.002 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 191 0 0 134 29 17.7914 USH1C 0 genome.wustl.edu 37 11 17519712 17519712 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 17519712 17519712 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known silent c.2487 p.G829 0.987 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 157 0 0 150 28 15.7303 MRGPRX3 0 genome.wustl.edu 37 11 18159640 18159640 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 18159640 18159640 C T SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known silent c.891 p.D297 0.995 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 106 0 0 73 20 21.5054 MRGPRX1 0 genome.wustl.edu 37 11 18955384 18955384 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 18955384 18955384 C T SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known silent c.948 p.S316 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 87 0 0 65 14 17.7215 MRGPRX1 0 genome.wustl.edu 37 11 18956154 18956154 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 18956154 18956154 C T SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known missense c.178 p.A60T 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 173 1 0.574713 141 36 20.339 ABTB2 0 genome.wustl.edu 37 11 34218969 34218969 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 34218969 34218969 C T SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.1147 p.A383T 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 79 0 0 68 11 13.9241 PRR5L 0 genome.wustl.edu 37 11 36459025 36459025 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 36459025 36459025 A G SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known missense c.443 p.Q148R 1.000 pfam_HbrB pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 138 0 0 105 24 18.6047 RRM1 0 genome.wustl.edu 37 11 4144429 4144429 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 4144429 4144429 C T SNP RRM1 ENST00000300738 human ensembl 74_37 +1 known missense c.1135 p.R379C 1.000 pfam_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 76 0 0 70 5 6.66667 ANO9 0 genome.wustl.edu 37 11 418560 418560 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 418560 418560 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known silent c.2160 p.A720 0.011 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 122 0 0 97 18 15.6522 OR52B4 0 genome.wustl.edu 37 11 4389408 4389408 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 4389408 4389408 C T SNP OR52B4 ENST00000408920 human ensembl 74_37 -1 known missense c.118 p.A40T 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B4 HGNC ENSG00000221996 53 0 0 41 10 19.6078 CHST1 0 genome.wustl.edu 37 11 45672102 45672102 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 45672102 45672102 C T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.372 p.L124 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 145 0 0 125 21 14.3836 CHRM4 0 genome.wustl.edu 37 11 46406884 46406884 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 46406884 46406884 G T SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known silent c.1224 p.A408 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 54 0 0 27 11 28.9474 SPI1 0 genome.wustl.edu 37 11 47399893 47399893 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 47399893 47399893 C T SNP SPI1 ENST00000227163 human ensembl 74_37 -1 known silent c.12 p.A4 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPI1 HGNC ENSG00000066336 32 0 0 31 4 11.4286 RNH1 0 genome.wustl.edu 37 11 494914 494914 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 494914 494914 G A SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.1267 p.R423W 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 26 0 0 13 7 35 RNH1 0 genome.wustl.edu 37 11 498841 498841 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 498841 498841 C A SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.707 p.S236I 0.002 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 36 0 0 33 4 10.8108 OR10AG1 0 genome.wustl.edu 37 11 55735092 55735092 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 55735092 55735092 A G SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.848 p.L283P 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 81 0 0 54 15 21.7391 TRIM6 0 genome.wustl.edu 37 11 5632556 5632556 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 5632556 5632556 G A SNP TRIM6 ENST00000380097 human ensembl 74_37 +1 known missense c.1535 p.R512H 0.387 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM6 HGNC ENSG00000121236 162 0 0 124 19 13.2867 SSRP1 0 genome.wustl.edu 37 11 57099223 57099223 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 57099223 57099223 C T SNP SSRP1 ENST00000278412 human ensembl 74_37 -1 known missense c.1142 p.R381H 1.000 pfam_SSRP1_dom,pfam_DUF1747,prints_SSrcognition pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 99 0 0 88 11 11.1111 SSRP1 0 genome.wustl.edu 37 11 57100495 57100495 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 57100495 57100495 A G SNP SSRP1 ENST00000278412 human ensembl 74_37 -1 known missense c.475 p.S159P 1.000 NULL pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 191 0 0 128 30 18.9873 OR52E6 0 genome.wustl.edu 37 11 5862873 5862873 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 5862873 5862873 G T SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known silent c.267 p.G89 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 194 0 0 163 30 15.544 OR52E6 0 genome.wustl.edu 37 11 5862874 5862874 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 5862874 5862874 C T SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known missense c.266 p.G89D 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 195 0 0 164 30 15.4639 TCN1 0 genome.wustl.edu 37 11 59622240 59622240 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 59622240 59622240 C T SNP TCN1 ENST00000257264 human ensembl 74_37 -1 known missense c.1006 p.V336I 0.558 NULL pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 122 0 0 98 17 14.7826 MS4A12 0 genome.wustl.edu 37 11 60269478 60269478 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 60269478 60269478 C G SNP MS4A12 ENST00000016913 human ensembl 74_37 +1 known missense c.437 p.S146C 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A12 HGNC ENSG00000071203 199 0 0 146 35 19.337 DDB1 0 genome.wustl.edu 37 11 61097046 61097046 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 61097046 61097046 C T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.338 p.G113D 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 36 0 0 23 10 30.303 DAGLA 0 genome.wustl.edu 37 11 61488196 61488196 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 61488196 61488196 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known silent c.141 p.P47 0.082 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 76 0 0 59 13 18.0556 INCENP 0 genome.wustl.edu 37 11 61897808 61897808 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 61897808 61897808 C A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.809 p.P270Q 0.002 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 126 0 0 84 35 29.4118 FAM160A2 0 genome.wustl.edu 37 11 6239808 6239808 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 6239808 6239808 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1457 p.G486E 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 180 0 0 131 26 16.5605 TAF6L 0 genome.wustl.edu 37 11 62554065 62554065 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 62554065 62554065 G A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.1166 p.C389Y 0.001 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 36 0 0 19 4 17.3913 MEN1 0 genome.wustl.edu 37 11 64575097 64575097 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 64575097 64575097 G A SNP MEN1 ENST00000337652 human ensembl 74_37 -1 known missense c.725 p.A242V 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 133 0 0 118 8 6.34921 ATG2A 0 genome.wustl.edu 37 11 64676743 64676743 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 64676743 64676743 T G SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.2204 p.Q735P 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 65 0 0 59 8 11.9403 KLC2 0 genome.wustl.edu 37 11 66033586 66033586 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 66033586 66033586 G A SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known missense c.1625 p.R542H 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 62 0 0 44 9 16.9811 CCDC87 0 genome.wustl.edu 37 11 66359936 66359936 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 66359936 66359936 C A SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known missense c.551 p.R184M 0.002 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 57 0 0 41 15 26.7857 RBM4 0 genome.wustl.edu 37 11 66411194 66411194 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 66411194 66411194 G A SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.686 p.R229Q 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 87 0 0 62 16 20.5128 PITPNM1 0 genome.wustl.edu 37 11 67265635 67265635 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 67265635 67265635 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.1643 p.R548H 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 76 0 0 54 3 5.26316 CHKA 0 genome.wustl.edu 37 11 67821508 67821508 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 67821508 67821508 C T SNP CHKA ENST00000265689 human ensembl 74_37 -1 known missense c.1321 p.A441T 0.999 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKA HGNC ENSG00000110721 29 0 0 27 5 15.625 CPT1A 0 genome.wustl.edu 37 11 68562328 68562328 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 68562328 68562328 C T SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.823 p.A275T 0.991 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 143 0 0 103 17 14.1667 OR10A4 0 genome.wustl.edu 37 11 6898314 6898314 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 6898314 6898314 G A SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known missense c.436 p.A146T 0.979 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 85 0 0 73 15 17.0455 ZNF214 0 genome.wustl.edu 37 11 7021712 7021712 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 7021712 7021712 A C SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.1202 p.L401R 1.000 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 ZNF214 HGNC ENSG00000149050 144 0 0 89 19 17.5926 RBMXL2 0 genome.wustl.edu 37 11 7111338 7111338 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 7111338 7111338 T C SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.987 p.S329 0.994 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 39 0 0 37 3 7.5 FCHSD2 0 genome.wustl.edu 37 11 72553749 72553749 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 72553749 72553749 G A SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known missense c.1843 p.R615C 0.923 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 135 0 0 109 16 12.8 RELT 0 genome.wustl.edu 37 11 73106270 73106270 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 73106270 73106270 G T SNP RELT ENST00000064780 human ensembl 74_37 +1 known silent c.1185 p.L395 0.939 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 81 0 0 38 17 30.9091 XRRA1 0 genome.wustl.edu 37 11 74562191 74562191 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 74562191 74562191 C T SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.1298 p.R433Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 72 0 0 43 9 17.3077 NEU3 0 genome.wustl.edu 37 11 74716692 74716692 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 74716692 74716692 G A SNP NEU3 ENST00000294064 human ensembl 74_37 +1 known missense c.541 p.V181I 1.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU3 HGNC ENSG00000162139 151 0 0 99 25 20.1613 RSF1 0 genome.wustl.edu 37 11 77383228 77383228 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 77383228 77383228 G A SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known nonsense c.3610 p.R1204* 0.994 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 119 0 0 106 18 14.5161 DLG2 0 genome.wustl.edu 37 11 83691553 83691553 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 83691553 83691553 A G SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1052 p.L351P 0.929 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ 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 114 0 0 90 20 18.1818 DLG2 0 genome.wustl.edu 37 11 83877898 83877898 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 83877898 83877898 C T SNP DLG2 ENST00000524941 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DLG2 HGNC ENSG00000150672 42 0 0 32 5 13.5135 DLG2 0 genome.wustl.edu 37 11 84028016 84028016 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 84028016 84028016 C T SNP DLG2 ENST00000280241 human ensembl 74_37 -1 known missense c.173 p.G58D 0.956 pfam_MAGUK_PEST_N,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,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_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 219 0 0 181 34 15.814 GRM5 0 genome.wustl.edu 37 11 88583270 88583270 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 88583270 88583270 C A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.715 p.G239W 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 30 0 0 24 9 27.2727 NAALAD2 0 genome.wustl.edu 37 11 89896482 89896482 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 89896482 89896482 G A SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known silent c.1080 p.R360 1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 185 0 0 130 20 13.3333 FAT3 0 genome.wustl.edu 37 11 92564790 92564790 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 92564790 92564790 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.9484 p.I3162V 0.904 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 37 0 0 28 4 12.5 PIWIL4 0 genome.wustl.edu 37 11 94328536 94328536 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 94328536 94328536 T C SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known silent c.1212 p.R404 0.000 pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 117 0 0 113 12 9.6 IPO7 0 genome.wustl.edu 37 11 9451349 9451349 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 9451349 9451349 A G SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.1720 p.T574A 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 47 0 0 55 7 11.2903 UHRF1BP1L 0 genome.wustl.edu 37 12 100444003 100444003 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 100444003 100444003 T C SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.3661 p.T1221A 0.893 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 26 0 0 20 3 13.0435 STAB2 0 genome.wustl.edu 37 12 104089412 104089412 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 104089412 104089412 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.3460 p.R1154W 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 141 0 0 93 16 14.6789 STAB2 0 genome.wustl.edu 37 12 104149134 104149134 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 104149134 104149134 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.6769 p.P2257T 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 159 0 0 121 26 17.6871 WSCD2 0 genome.wustl.edu 37 12 108620779 108620779 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 108620779 108620779 G A SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.817 p.A273T 1.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 79 0 0 74 18 19.5652 WSCD2 0 genome.wustl.edu 37 12 108634185 108634185 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 108634185 108634185 C T SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known silent c.1209 p.S403 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 273 0 0 238 30 11.194 DTX1 0 genome.wustl.edu 37 12 113515234 113515234 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 113515234 113515234 A G SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.265 p.M89V 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 58 0 0 46 11 19.2982 TBX5 0 genome.wustl.edu 37 12 114841708 114841708 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 114841708 114841708 C T SNP TBX5 ENST00000552726 human ensembl 74_37 -1 known rna NULL NULL 0.271 - - - no_errors TBX5 HGNC ENSG00000089225 48 0 0 34 5 12.8205 MED13L 0 genome.wustl.edu 37 12 116446342 116446342 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 116446342 116446342 G A SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.1876 p.P626S 0.058 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 46 0 0 27 2 6.89655 SETD8 0 genome.wustl.edu 37 12 123892235 123892235 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 123892235 123892235 G A SNP SETD8 ENST00000330479 human ensembl 74_37 +1 known silent c.1044 p.P348 0.991 pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 37 0 0 29 4 12.1212 TMEM132D 0 genome.wustl.edu 37 12 129559129 129559129 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 129559129 129559129 T G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.2591 p.K864T 0.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 74 0 0 76 14 15.5556 ULK1 0 genome.wustl.edu 37 12 132401007 132401007 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 132401007 132401007 G T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.1943 p.R648L 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 127 0 0 98 17 14.7826 EP400 0 genome.wustl.edu 37 12 132502083 132502083 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 132502083 132502083 T C SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.4035 p.T1345 0.131 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 128 0 0 109 19 14.8438 PGAM5 0 genome.wustl.edu 37 12 133294630 133294630 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 133294630 133294630 G A SNP PGAM5 ENST00000498926 human ensembl 74_37 +1 known missense c.643 p.A215T 0.998 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors PGAM5 HGNC ENSG00000247077 94 0 0 67 14 17.284 ANKLE2 0 genome.wustl.edu 37 12 133313524 133313524 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 133313524 133313524 C T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.1548 p.P516 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 150 0 0 137 13 8.66667 GUCY2C 0 genome.wustl.edu 37 12 14796578 14796578 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 14796578 14796578 G A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known silent c.1860 p.C620 0.953 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 149 0 0 123 28 18.543 RERG 0 genome.wustl.edu 37 12 15262151 15262151 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 15262151 15262151 G A SNP RERG ENST00000256953 human ensembl 74_37 -1 known nonsense c.493 p.R165* 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RERG HGNC ENSG00000134533 168 0 0 116 27 18.8811 ADIPOR2 0 genome.wustl.edu 37 12 1893123 1893123 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 1893123 1893123 G A SNP ADIPOR2 ENST00000357103 human ensembl 74_37 +1 known missense c.916 p.A306T 0.999 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 76 0 0 63 4 5.97015 ST8SIA1 0 genome.wustl.edu 37 12 22408252 22408252 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 22408252 22408252 G A SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known silent c.453 p.G151 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 274 0 0 233 18 7.17131 PKP2 0 genome.wustl.edu 37 12 33031056 33031056 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 33031056 33031056 C T SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.758 p.G253D 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 64 0 0 54 3 5.26316 SLC2A13 0 genome.wustl.edu 37 12 40158332 40158332 + Silent SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 40158332 40158332 T A SNP SLC2A13 ENST00000280871 human ensembl 74_37 -1 known silent c.1650 p.G550 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 120 0 0 108 23 17.5573 LRRK2 0 genome.wustl.edu 37 12 40631824 40631824 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 40631824 40631824 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.490 p.F164V 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 107 0 0 99 8 7.47664 ADAMTS20 0 genome.wustl.edu 37 12 43770328 43770328 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 43770328 43770328 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.5124 p.D1708 0.999 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 42 0 0 42 4 8.69565 NELL2 0 genome.wustl.edu 37 12 45004675 45004675 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 45004675 45004675 C T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.1673 p.C558Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 87 0 0 56 8 12.5 FGF6 0 genome.wustl.edu 37 12 4554633 4554633 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 4554633 4554633 A G SNP FGF6 ENST00000228837 human ensembl 74_37 -1 known missense c.104 p.V35A 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF6 HGNC ENSG00000111241 101 0 0 65 19 22.619 KCNA6 0 genome.wustl.edu 37 12 4920241 4920241 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 4920241 4920241 G A SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.1034 p.R345H 1.000 pfam_Ion_trans_dom 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 57 0 0 41 9 18 WNT1 0 genome.wustl.edu 37 12 49374314 49374314 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 49374314 49374314 C T SNP WNT1 ENST00000293549 human ensembl 74_37 +1 known missense c.466 p.R156W 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 34 0 0 29 4 12.1212 LIMA1 0 genome.wustl.edu 37 12 50571305 50571305 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 50571305 50571305 C T SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.1825 p.V609M 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 384 0 0 336 19 5.35211 KRT73 0 genome.wustl.edu 37 12 53012094 53012094 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 53012094 53012094 C T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.215 p.G72E 0.991 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 226 0 0 172 32 15.6863 KRT79 0 genome.wustl.edu 37 12 53227817 53227817 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 53227817 53227817 G A SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known silent c.228 p.A76 0.006 NULL pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 80 0 0 71 12 14.4578 TENC1 0 genome.wustl.edu 37 12 53451888 53451888 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 53451888 53451888 T C SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known splice_site c.1125+2 e14+2 1.000 - - - no_errors TENC1 HGNC ENSG00000111077 51 0 0 44 11 20 SOAT2 0 genome.wustl.edu 37 12 53515103 53515103 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 53515103 53515103 C T SNP SOAT2 ENST00000301466 human ensembl 74_37 +1 known missense c.1154 p.T385M 0.980 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 109 0 0 76 15 16.4835 ZNF385A 0 genome.wustl.edu 37 12 54765373 54765373 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 54765373 54765373 G A SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known missense c.548 p.P183L 0.991 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 168 0 0 117 31 20.9459 TESPA1 0 genome.wustl.edu 37 12 55360194 55360194 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 55360194 55360194 C T SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.325 p.A109T 0.214 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 101 0 0 101 16 13.6752 OR6C4 0 genome.wustl.edu 37 12 55945174 55945174 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 55945174 55945174 C G SNP OR6C4 ENST00000394256 human ensembl 74_37 +1 known missense c.164 p.T55S 0.304 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C4 HGNC ENSG00000179626 196 0 0 150 31 17.1271 ITGA7 0 genome.wustl.edu 37 12 56082688 56082688 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 56082688 56082688 G T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.3030 p.S1010R 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 91 0 0 74 21 22.1053 GPR182 0 genome.wustl.edu 37 12 57389029 57389029 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 57389029 57389029 G T SNP GPR182 ENST00000300098 human ensembl 74_37 +1 known silent c.36 p.S12 0.000 prints_G10D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR182 HGNC ENSG00000166856 170 0 0 136 26 16.0494 MON2 0 genome.wustl.edu 37 12 62926342 62926342 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 62926342 62926342 G T SNP MON2 ENST00000393630 human ensembl 74_37 +1 known nonsense c.1525 p.E509* 0.998 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 63 0 0 54 16 22.8571 PLEKHG6 0 genome.wustl.edu 37 12 6422807 6422807 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 6422807 6422807 C T SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known nonsense c.151 p.R51* 0.013 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 93 0 0 75 12 13.7931 PLEKHG6 0 genome.wustl.edu 37 12 6435695 6435695 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 6435695 6435695 C A SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known silent c.1626 p.P542 0.994 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 44 0 0 42 6 12.5 TNFRSF1A 0 genome.wustl.edu 37 12 6450990 6450990 + RNA SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 6450990 6450990 C A SNP TNFRSF1A ENST00000535958 human ensembl 74_37 -1 putative rna NULL NULL 0.187 - - - no_errors TNFRSF1A HGNC ENSG00000067182 76 0 0 47 8 14.5455 NCAPD2 0 genome.wustl.edu 37 12 6637928 6637928 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 6637928 6637928 A G SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.3383 p.K1128R 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 58 0 0 67 15 18.2927 CAND1 0 genome.wustl.edu 37 12 67696193 67696193 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 67696193 67696193 G T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.1091 p.R364M 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 186 0 0 121 20 14.1844 CAND1 0 genome.wustl.edu 37 12 67700125 67700125 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 67700125 67700125 C T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.2677 p.P893S 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 97 0 0 84 18 17.6471 ZNF384 0 genome.wustl.edu 37 12 6781678 6781678 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 6781678 6781678 G A SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known missense c.932 p.T311M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 61 0 0 55 10 15.3846 PEX5 0 genome.wustl.edu 37 12 7361095 7361095 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 7361095 7361095 G A SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known silent c.1269 p.A423 0.001 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 72 0 0 59 12 16.9014 OTOGL 0 genome.wustl.edu 37 12 80633160 80633160 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 80633160 80633160 C T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known silent c.966 p.S322 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 153 0 0 116 24 17.1429 LRRIQ1 0 genome.wustl.edu 37 12 85445956 85445956 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 85445956 85445956 A G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.680 p.Q227R 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 103 0 0 74 24 24.4898 ELK3 0 genome.wustl.edu 37 12 96641034 96641034 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 96641034 96641034 C A SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known missense c.524 p.P175H 0.373 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 82 0 0 72 4 5.26316 WNK1 0 genome.wustl.edu 37 12 978006 978006 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 978006 978006 C T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.3369 p.I1123 0.224 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 124 0 0 115 7 5.7377 TMPO 0 genome.wustl.edu 37 12 98938068 98938068 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 98938068 98938068 C T SNP TMPO ENST00000556029 human ensembl 74_37 +1 known missense c.724 p.P242S 1.000 NULL pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 56 0 0 58 7 10.7692 MYO16 0 genome.wustl.edu 37 13 109707413 109707413 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 109707413 109707413 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3002 p.T1001I 0.581 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 56 0 0 46 8 14.8148 IRS2 0 genome.wustl.edu 37 13 110438061 110438061 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 110438061 110438061 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.340 p.A114T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 41 0 0 30 4 11.7647 COL4A1 0 genome.wustl.edu 37 13 110804777 110804777 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 110804777 110804777 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.4832 p.A1611V 0.998 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 74 0 0 44 16 26.6667 CARS2 0 genome.wustl.edu 37 13 111329449 111329449 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 111329449 111329449 C T SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known silent c.657 p.A219 0.000 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 86 0 0 72 18 20 MCF2L 0 genome.wustl.edu 37 13 113729379 113729379 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 113729379 113729379 C T SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.1355 p.A452V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 142 1 0.699301 112 20 15.1515 MCF2L 0 genome.wustl.edu 37 13 113748914 113748914 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 113748914 113748914 G A SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.3211 p.A1071T 0.024 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 51 0 0 22 6 21.4286 F7 0 genome.wustl.edu 37 13 113768258 113768258 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 113768258 113768258 C T SNP F7 ENST00000375581 human ensembl 74_37 +1 known silent c.414 p.G138 0.470 pirsf_Pept_S1A_FX,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 77 0 0 68 5 6.84932 LAMP1 0 genome.wustl.edu 37 13 113976139 113976139 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 113976139 113976139 G A SNP LAMP1 ENST00000471046 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMP1 HGNC ENSG00000185896 20 0 0 11 4 26.6667 TMCO3 0 genome.wustl.edu 37 13 114203860 114203860 + RNA SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 114203860 114203860 G T SNP TMCO3 ENST00000460039 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMCO3 HGNC ENSG00000150403 39 0 0 30 6 16.6667 UPF3A 0 genome.wustl.edu 37 13 115048366 115048366 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 115048366 115048366 C T SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known silent c.369 p.D123 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 78 0 0 40 10 20 CRYL1 0 genome.wustl.edu 37 13 21006389 21006389 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 21006389 21006389 G A SNP CRYL1 ENST00000298248 human ensembl 74_37 -1 known missense c.485 p.P162L 0.997 pfam_3-OHacyl-CoA_DH_NAD-bd pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 85 0 0 58 13 18.3099 FGF9 0 genome.wustl.edu 37 13 22246092 22246092 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 22246092 22246092 A G SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.41 p.Q14R 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 176 0 0 146 26 15.1163 SACS 0 genome.wustl.edu 37 13 23907766 23907766 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 23907766 23907766 T G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.10249 p.S3417R 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 125 0 0 104 24 18.75 SACS 0 genome.wustl.edu 37 13 23911305 23911305 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 23911305 23911305 T C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6710 p.E2237G 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 66 0 0 50 13 20.6349 PARP4 0 genome.wustl.edu 37 13 25009030 25009030 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 25009030 25009030 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.4249 p.P1417S 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 54 0 0 40 13 24.5283 RNF17 0 genome.wustl.edu 37 13 25399909 25399909 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 25399909 25399909 C T SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known silent c.2244 p.I748 0.630 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 94 0 0 65 12 15.5844 CENPJ 0 genome.wustl.edu 37 13 25484117 25484117 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 25484117 25484117 G A SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.676 p.P226S 0.885 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 189 0 0 148 29 16.3842 POLR1D 0 genome.wustl.edu 37 13 28240143 28240143 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 28240143 28240143 C T SNP POLR1D ENST00000465887 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC ENSG00000186184 42 0 0 35 6 14.6341 FRY 0 genome.wustl.edu 37 13 32783063 32783063 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 32783063 32783063 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.4092 p.L1364 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 80 0 0 71 16 18.3908 BRCA2 0 genome.wustl.edu 37 13 32931894 32931894 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 32931894 32931894 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.7633 p.V2545I 0.918 pfam_DNA_recomb/repair_BRCA2_hlx,superfamily_DNA_recomb/repair_BRCA2_hlx,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 79 0 0 55 13 19.1176 RFC3 0 genome.wustl.edu 37 13 34404030 34404030 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 34404030 34404030 G A SNP RFC3 ENST00000380071 human ensembl 74_37 +1 known missense c.449 p.R150K 0.999 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 106 0 0 81 17 17.3469 NBEA 0 genome.wustl.edu 37 13 35923259 35923259 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 35923259 35923259 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.5918 p.A1973V 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 56 0 0 36 11 23.4043 CCNA1 0 genome.wustl.edu 37 13 37012857 37012857 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 37012857 37012857 A T SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.746 p.D249V 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 82 0 0 59 15 20.2703 FREM2 0 genome.wustl.edu 37 13 39262365 39262365 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 39262365 39262365 G T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.884 p.S295I 0.933 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 86 0 0 58 9 13.4328 FREM2 0 genome.wustl.edu 37 13 39264188 39264188 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 39264188 39264188 G T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.2707 p.A903S 0.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 78 0 0 45 7 13.4615 VWA8 0 genome.wustl.edu 37 13 42149928 42149928 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 42149928 42149928 A G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.5318 p.V1773A 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 85 0 0 65 16 19.7531 DNAJC15 0 genome.wustl.edu 37 13 43652796 43652796 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 43652796 43652796 C T SNP DNAJC15 ENST00000379221 human ensembl 74_37 +1 known nonsense c.283 p.R95* 1.000 superfamily_DnaJ_domain,smart_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC15 HGNC ENSG00000120675 58 0 0 45 8 15.0943 SIAH3 0 genome.wustl.edu 37 13 46357608 46357608 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 46357608 46357608 C A SNP SIAH3 ENST00000400405 human ensembl 74_37 -1 known silent c.720 p.S240 0.999 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC ENSG00000215475 106 0 0 90 17 15.8879 RCBTB2 0 genome.wustl.edu 37 13 49084818 49084818 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 49084818 49084818 A G SNP RCBTB2 ENST00000430805 human ensembl 74_37 -1 known silent c.888 p.T296 0.851 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 115 0 0 115 14 10.8527 THSD1 0 genome.wustl.edu 37 13 52951775 52951775 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 52951775 52951775 G T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.2330 p.P777H 0.797 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 291 0 0 195 36 15.5844 PCDH9 0 genome.wustl.edu 37 13 66878841 66878841 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 66878841 66878841 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.3660 p.K1220 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 86 0 0 70 6 7.89474 PCDH9 0 genome.wustl.edu 37 13 67799528 67799528 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 67799528 67799528 C T SNP PCDH9 ENST00000377861 human ensembl 74_37 -1 known silent c.3045 p.E1015 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 80 0 0 69 6 8 RNF219 0 genome.wustl.edu 37 13 79191043 79191043 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 79191043 79191043 T C SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known missense c.853 p.S285G 0.048 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 107 0 0 82 12 12.766 SLITRK1 0 genome.wustl.edu 37 13 84453981 84453981 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 84453981 84453981 G A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.1662 p.S554 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 62 0 0 41 12 22.6415 DNAJC3 0 genome.wustl.edu 37 13 96443251 96443251 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 96443251 96443251 C T SNP DNAJC3 ENST00000602402 human ensembl 74_37 +1 known silent c.1482 p.G494 0.991 NULL pfam_TPR_1,pfam_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC3 HGNC ENSG00000102580 143 0 0 112 15 11.811 KLC1 0 genome.wustl.edu 37 14 104135937 104135937 + Splice_Site SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 104135937 104135937 T G SNP KLC1 ENST00000334553 human ensembl 74_37 +1 known splice_site c.885+2 e5+2 1.000 - - - no_errors KLC1 HGNC ENSG00000126214 79 0 0 79 14 15.0538 INF2 0 genome.wustl.edu 37 14 105169515 105169515 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 105169515 105169515 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known silent c.465 p.P155 0.036 superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 71 0 0 62 10 13.8889 AKT1 0 genome.wustl.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 105246551 105246551 C T SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known missense c.49 p.E17K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 47 0 0 37 6 13.9535 RPGRIP1 0 genome.wustl.edu 37 14 21813344 21813344 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 21813344 21813344 C A SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.3605 p.P1202H 0.338 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 70 0 0 52 12 18.75 RBM23 0 genome.wustl.edu 37 14 23374320 23374320 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 23374320 23374320 T C SNP RBM23 ENST00000359890 human ensembl 74_37 -1 known missense c.709 p.I237V 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM23 HGNC ENSG00000100461 116 0 0 74 16 17.7778 MYH6 0 genome.wustl.edu 37 14 23868196 23868196 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 23868196 23868196 G T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.1632 p.A544 0.708 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 126 0 0 78 15 16.129 MYH7 0 genome.wustl.edu 37 14 23897852 23897852 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 23897852 23897852 T C SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.1435 p.N479D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 93 0 0 53 15 22.0588 RABGGTA 0 genome.wustl.edu 37 14 24734876 24734876 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 24734876 24734876 C T SNP RABGGTA ENST00000216840 human ensembl 74_37 -1 known missense c.1649 p.G550D 0.000 NULL pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 46 0 0 20 2 9.09091 CIDEB 0 genome.wustl.edu 37 14 24774855 24774855 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 24774855 24774855 C T SNP CIDEB ENST00000258807 human ensembl 74_37 -1 known missense c.644 p.R215H 1.000 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEB HGNC ENSG00000136305 94 0 0 76 17 18.2796 CBLN3 0 genome.wustl.edu 37 14 24897594 24897594 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 24897594 24897594 G A SNP CBLN3 ENST00000267406 human ensembl 74_37 -1 known silent c.318 p.G106 0.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN3 HGNC ENSG00000139899 76 0 0 56 5 8.19672 AKAP6 0 genome.wustl.edu 37 14 33293172 33293172 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 33293172 33293172 C T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.6153 p.A2051 0.979 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 57 0 0 50 8 13.7931 AKAP6 0 genome.wustl.edu 37 14 33293952 33293952 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 33293952 33293952 A C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.6933 p.E2311D 0.996 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 114 0 0 83 16 16.1616 MIPOL1 0 genome.wustl.edu 37 14 37969313 37969313 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 37969313 37969313 C T SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.1232 p.A411V 0.992 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 65 0 0 53 14 20.8955 MIS18BP1 0 genome.wustl.edu 37 14 45693641 45693641 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 45693641 45693641 G A SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.2149 p.R717C 0.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 117 0 0 86 19 18.0952 MGAT2 0 genome.wustl.edu 37 14 50088877 50088877 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 50088877 50088877 T A SNP MGAT2 ENST00000305386 human ensembl 74_37 +1 known missense c.891 p.S297R 0.145 pfam_GlcNAc_II pfam_GlcNAc_II - no_errors MGAT2 HGNC ENSG00000168282 173 1 0.574713 130 22 14.4737 MAP4K5 0 genome.wustl.edu 37 14 50911877 50911877 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 50911877 50911877 C T SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known silent c.1221 p.P407 0.907 superfamily_Kinase-like_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K5 HGNC ENSG00000012983 48 0 0 29 7 19.4444 CDKN3 0 genome.wustl.edu 37 14 54886793 54886793 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 54886793 54886793 A G SNP CDKN3 ENST00000335183 human ensembl 74_37 +1 known silent c.636 p.R212 1.000 pirsf_CDK_inhib_3 pfam_CDKN3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pirsf_CDK_inhib_3,pfscan_Tyr/Dual-sp_Pase - no_errors CDKN3 HGNC ENSG00000100526 98 0 0 61 24 28.2353 SIX1 0 genome.wustl.edu 37 14 61115656 61115656 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 61115656 61115656 C G SNP SIX1 ENST00000247182 human ensembl 74_37 -1 known missense c.252 p.Q84H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX1 HGNC ENSG00000126778 284 0 0 242 20 7.63359 KCNH5 0 genome.wustl.edu 37 14 63269228 63269228 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 63269228 63269228 T G SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.1641 p.E547D 0.950 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 65 0 0 68 4 5.55556 SYNE2 0 genome.wustl.edu 37 14 64519852 64519852 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 64519852 64519852 A G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.9221 p.D3074G 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 56 0 0 46 15 24.5902 MTHFD1 0 genome.wustl.edu 37 14 64908801 64908801 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 64908801 64908801 G A SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known silent c.1914 p.P638 0.001 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 83 0 0 61 16 20.7792 PCNX 0 genome.wustl.edu 37 14 71443908 71443908 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 71443908 71443908 G A SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.854 p.R285Q 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 125 1 0.793651 122 26 17.5676 ZC2HC1C 0 genome.wustl.edu 37 14 75537988 75537988 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 75537988 75537988 C T SNP ZC2HC1C ENST00000524913 human ensembl 74_37 +1 known silent c.712 p.L238 1.000 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 90 0 0 67 13 16.25 VASH1 0 genome.wustl.edu 37 14 77242266 77242266 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 77242266 77242266 C T SNP VASH1 ENST00000167106 human ensembl 74_37 +1 known missense c.562 p.R188C 1.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 25 0 0 13 4 23.5294 POMT2 0 genome.wustl.edu 37 14 77745128 77745128 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 77745128 77745128 C T SNP POMT2 ENST00000261534 human ensembl 74_37 -1 known missense c.1976 p.R659Q 1.000 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 92 0 0 75 18 19.3548 CALM1 0 genome.wustl.edu 37 14 90870757 90870757 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 90870757 90870757 G A SNP CALM1 ENST00000356978 human ensembl 74_37 +1 known missense c.320 p.R107H 1.000 pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors CALM1 HGNC ENSG00000198668 82 0 0 60 9 13.0435 C14orf159 0 genome.wustl.edu 37 14 91633872 91633872 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 91633872 91633872 G A SNP C14orf159 ENST00000298858 human ensembl 74_37 +1 known missense c.317 p.R106Q 0.000 NULL NULL - no_errors C14orf159 HGNC ENSG00000133943 17 0 0 8 3 27.2727 GPR68 0 genome.wustl.edu 37 14 91700767 91700767 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 91700767 91700767 G A SNP GPR68 ENST00000238699 human ensembl 74_37 -1 known missense c.658 p.R220C 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_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 34 0 0 17 4 19.0476 FAM181A 0 genome.wustl.edu 37 14 94394712 94394712 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 94394712 94394712 G A SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known silent c.267 p.K89 1.000 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 55 0 0 46 11 19.2982 SERPINA9 0 genome.wustl.edu 37 14 94933480 94933480 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 94933480 94933480 T C SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known missense c.922 p.T308A 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 90 0 0 70 13 15.6627 GSC 0 genome.wustl.edu 37 14 95234924 95234924 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 95234924 95234924 C A SNP GSC ENST00000238558 human ensembl 74_37 -1 known silent c.678 p.S226 0.678 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors GSC HGNC ENSG00000133937 169 1 0.588235 159 30 15.873 WASH3P 0 genome.wustl.edu 37 15 102516611 102516611 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 102516611 102516611 C T SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors WASH3P HGNC ENSG00000185596 9 0 0 3 3 50 GOLGA8S 0 genome.wustl.edu 37 15 23610185 23610185 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 23610185 23610185 G A SNP GOLGA8S ENST00000562295 human ensembl 74_37 +1 novel silent c.1782 p.Q594 0.942 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 119 0 0 98 17 14.7826 NDN 0 genome.wustl.edu 37 15 23931740 23931740 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 23931740 23931740 C T SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.625 p.A209T 0.739 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 62 0 0 37 6 13.9535 SNORD116-29 0 genome.wustl.edu 37 15 25351699 25351699 + RNA SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 25351699 25351699 T G SNP SNORD116-29 ENST00000384516 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors SNORD116-29 HGNC ENSG00000207245 86 0 0 69 7 9.21053 ATP10A 0 genome.wustl.edu 37 15 25926148 25926148 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 25926148 25926148 G T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3566 p.P1189H 1.000 tigrfam_ATPase_P-typ_Plipid-transp 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 ATP10A HGNC ENSG00000206190 85 0 0 69 9 11.5385 SLC12A6 0 genome.wustl.edu 37 15 34543198 34543198 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 34543198 34543198 G T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.1367 p.S456Y 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 75 0 0 68 15 18.0723 GCHFR 0 genome.wustl.edu 37 15 41059498 41059498 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 41059498 41059498 G T SNP GCHFR ENST00000260447 human ensembl 74_37 +1 known missense c.206 p.S69I 1.000 pfam_GTP_CycHdrlase_I_reg,superfamily_GTP_CycHdrlase_I_reg pfam_GTP_CycHdrlase_I_reg,superfamily_GTP_CycHdrlase_I_reg - no_errors GCHFR HGNC ENSG00000137880 128 0 0 132 17 11.4094 VPS18 0 genome.wustl.edu 37 15 41192607 41192607 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 41192607 41192607 C T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.1591 p.R531C 1.000 superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 188 0 0 147 38 20.5405 MGA 0 genome.wustl.edu 37 15 42041014 42041014 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 42041014 42041014 A G SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5392 p.M1798V 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 112 1 0.884956 78 20 20.4082 MAPKBP1 0 genome.wustl.edu 37 15 42110261 42110261 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 42110261 42110261 T C SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known silent c.1977 p.G659 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 168 1 0.591716 152 25 14.1243 PLA2G4D 0 genome.wustl.edu 37 15 42364044 42364044 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 42364044 42364044 G A SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known missense c.1501 p.L501F 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 57 0 0 60 5 7.69231 TMEM87A 0 genome.wustl.edu 37 15 42529648 42529648 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 42529648 42529648 G A SNP TMEM87A ENST00000389834 human ensembl 74_37 -1 known nonsense c.850 p.R284* 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 76 0 0 57 13 18.5714 CDAN1 0 genome.wustl.edu 37 15 43025362 43025362 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 43025362 43025362 G A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known nonsense c.1390 p.R464* 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 109 1 0.909091 90 20 18.1818 ZSCAN29 0 genome.wustl.edu 37 15 43662097 43662097 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 43662097 43662097 T C SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known silent c.15 p.S5 0.962 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 107 0 0 118 21 15.1079 SLC28A2 0 genome.wustl.edu 37 15 45556153 45556153 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 45556153 45556153 T C SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known missense c.521 p.L174P 1.000 tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 121 0 0 92 21 18.5841 SPATA5L1 0 genome.wustl.edu 37 15 45706832 45706832 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 45706832 45706832 G T SNP SPATA5L1 ENST00000305560 human ensembl 74_37 +1 known nonsense c.1498 p.G500* 0.995 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 67 0 0 56 18 24.3243 GLDN 0 genome.wustl.edu 37 15 51634172 51634172 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 51634172 51634172 C T SNP GLDN ENST00000335449 human ensembl 74_37 +1 known silent c.291 p.S97 0.272 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 65 0 0 54 11 16.9231 MAPK6 0 genome.wustl.edu 37 15 52356198 52356198 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 52356198 52356198 T C SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known silent c.1167 p.T389 0.877 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 70 0 0 69 14 16.8675 MYO5C 0 genome.wustl.edu 37 15 52564028 52564028 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 52564028 52564028 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.764 p.R255Q 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 31 0 0 27 3 10 SLTM 0 genome.wustl.edu 37 15 59182562 59182562 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 59182562 59182562 C T SNP SLTM ENST00000380516 human ensembl 74_37 -1 known missense c.1997 p.R666H 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 164 0 0 132 30 18.5185 ENSG00000225798 0 genome.wustl.edu 37 15 59186221 59186221 + RNA SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 59186221 59186221 A G SNP ENSG00000225798 ENST00000452467 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors AC025918.2 Clone_based_vega_gene ENSG00000225798 28 0 0 33 6 15.3846 ZNF609 0 genome.wustl.edu 37 15 64967127 64967127 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 64967127 64967127 G A SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.2074 p.A692T 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 183 1 0.543478 138 41 22.905 RPL4 0 genome.wustl.edu 37 15 66792468 66792468 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 66792468 66792468 A G SNP RPL4 ENST00000307961 human ensembl 74_37 -1 known silent c.964 p.L322 0.999 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 89 0 0 86 8 8.51064 SKOR1 0 genome.wustl.edu 37 15 68118334 68118334 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 68118334 68118334 G A SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known silent c.168 p.S56 0.979 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 79 0 0 60 12 16.6667 CORO2B 0 genome.wustl.edu 37 15 68987583 68987583 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 68987583 68987583 G A SNP CORO2B ENST00000566799 human ensembl 74_37 +1 known silent c.321 p.S107 0.001 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 114 0 0 89 18 16.8224 SPESP1 0 genome.wustl.edu 37 15 69238906 69238906 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 69238906 69238906 G A SNP SPESP1 ENST00000310673 human ensembl 74_37 +1 known missense c.1033 p.A345T 0.000 NULL NULL - no_errors SPESP1 HGNC ENSG00000258484 51 0 0 34 9 20.9302 UACA 0 genome.wustl.edu 37 15 70960670 70960670 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 70960670 70960670 A T SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.2353 p.L785M 0.950 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 60 0 0 55 14 20.2899 CSPG4 0 genome.wustl.edu 37 15 75979694 75979694 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 75979694 75979694 G T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.3712 p.P1238T 0.478 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 131 0 0 102 10 8.92857 LINGO1 0 genome.wustl.edu 37 15 77907861 77907861 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 77907861 77907861 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.388 p.R130C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 52 0 0 39 3 7.14286 CSPG4P13 0 genome.wustl.edu 37 15 78196396 78196396 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 78196396 78196396 G A SNP CSPG4P13 ENST00000565545 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors CSPG4P13 HGNC ENSG00000260139 22 0 0 20 5 20 C15orf26 0 genome.wustl.edu 37 15 81428869 81428869 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 81428869 81428869 G A SNP C15orf26 ENST00000286732 human ensembl 74_37 +1 known missense c.172 p.V58I 0.000 NULL NULL - no_errors C15orf26 HGNC ENSG00000156206 66 0 0 50 9 15.2542 EFTUD1P1 0 genome.wustl.edu 37 15 84782442 84782442 + RNA SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 84782442 84782442 C A SNP EFTUD1P1 ENST00000560381 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 163 0 0 133 30 18.4049 TICRR 0 genome.wustl.edu 37 15 90159667 90159667 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 90159667 90159667 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known silent c.2901 p.A967 0.864 NULL NULL - no_errors TICRR HGNC ENSG00000140534 54 0 0 46 6 11.5385 SLCO3A1 0 genome.wustl.edu 37 15 92706126 92706126 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 92706126 92706126 G A SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1894 p.A632T 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 96 0 0 72 19 20.8791 MCTP2 0 genome.wustl.edu 37 15 94901754 94901754 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 94901754 94901754 A T SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.1214 p.D405V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 58 0 0 57 4 6.55738 TEKT5 0 genome.wustl.edu 37 16 10788315 10788315 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 10788315 10788315 C T SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known missense c.416 p.R139Q 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 241 1 0.413223 202 34 14.4068 CLEC16A 0 genome.wustl.edu 37 16 11219940 11219940 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 11219940 11219940 C T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2578 p.R860C 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 217 0 0 200 12 5.66038 TXNDC11 0 genome.wustl.edu 37 16 11785786 11785786 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 11785786 11785786 C T SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known silent c.1341 p.A447 0.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 70 0 0 73 13 15.1163 RSL1D1 0 genome.wustl.edu 37 16 11931765 11931765 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 11931765 11931765 G A SNP RSL1D1 ENST00000571133 human ensembl 74_37 -1 known missense c.1352 p.A451V 0.069 NULL pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 486 1 0.205339 412 77 15.7464 CRAMP1L 0 genome.wustl.edu 37 16 1705981 1705981 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 1705981 1705981 C T SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known missense c.1223 p.P408L 0.970 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 61 0 0 39 8 17.0213 CDR2 0 genome.wustl.edu 37 16 22359037 22359037 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 22359037 22359037 A G SNP CDR2 ENST00000268383 human ensembl 74_37 -1 known missense c.614 p.L205S 0.996 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 232 0 0 173 38 18.0095 HS3ST2 0 genome.wustl.edu 37 16 22825981 22825981 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 22825981 22825981 C T SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.50 p.A17V 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 12 0 0 7 5 41.6667 PLK1 0 genome.wustl.edu 37 16 23695280 23695280 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 23695280 23695280 C T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known silent c.906 p.D302 0.993 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 386 0 0 299 52 14.8148 PRKCB 0 genome.wustl.edu 37 16 23847645 23847645 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 23847645 23847645 G T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.149 p.C50F 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 157 0 0 132 17 11.4094 CACNG3 0 genome.wustl.edu 37 16 24372780 24372780 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 24372780 24372780 G A SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known missense c.544 p.G182R 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 197 0 0 173 22 11.2821 AQP8 0 genome.wustl.edu 37 16 25232874 25232874 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 25232874 25232874 C T SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known silent c.357 p.L119 0.705 pfam_MIP,superfamily_Aquaporin-like,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 116 0 0 118 20 14.4928 CEMP1 0 genome.wustl.edu 37 16 2581057 2581057 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 2581057 2581057 A G SNP CEMP1 ENST00000382350 human ensembl 74_37 -1 known silent c.18 p.T6 0.000 NULL NULL - no_errors CEMP1 HGNC ENSG00000205923 61 0 0 43 6 12.2449 SH2B1 0 genome.wustl.edu 37 16 28877939 28877939 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 28877939 28877939 C T SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known missense c.524 p.T175I 0.002 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 92 0 0 70 12 14.6341 PPP4C 0 genome.wustl.edu 37 16 30096003 30096003 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 30096003 30096003 C T SNP PPP4C ENST00000279387 human ensembl 74_37 +1 known silent c.621 p.G207 0.008 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 151 0 0 118 18 13.2353 PPP4C 0 genome.wustl.edu 37 16 30096284 30096284 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 30096284 30096284 G A SNP PPP4C ENST00000279387 human ensembl 74_37 +1 known silent c.825 p.L275 1.000 smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 135 0 0 109 22 16.7939 TBX6 0 genome.wustl.edu 37 16 30097873 30097873 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 30097873 30097873 G T SNP TBX6 ENST00000279386 human ensembl 74_37 -1 known missense c.1057 p.P353T 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX6 HGNC ENSG00000149922 10 0 0 7 3 30 DCTPP1 0 genome.wustl.edu 37 16 30435737 30435737 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 30435737 30435737 G A SNP DCTPP1 ENST00000319285 human ensembl 74_37 -1 known silent c.330 p.C110 1.000 pfam_MazG_cat pfam_MazG_cat,pfscan_EAR - no_errors DCTPP1 HGNC ENSG00000179958 74 0 0 47 12 20.339 ITGAL 0 genome.wustl.edu 37 16 30529992 30529992 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 30529992 30529992 C T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known silent c.3180 p.N1060 0.929 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 92 0 0 60 8 11.7647 PRR14 0 genome.wustl.edu 37 16 30663120 30663120 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 30663120 30663120 G A SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known silent c.27 p.P9 0.000 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 158 0 0 121 18 12.9496 ITGAX 0 genome.wustl.edu 37 16 31374258 31374258 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 31374258 31374258 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.1362 p.I454 0.934 smart_Int_alpha_beta-p,prints_Integrin_alpha 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 157 0 0 130 39 23.0769 SLC6A10P 0 genome.wustl.edu 37 16 32891823 32891823 + RNA SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 32891823 32891823 G T SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 25 0 0 16 4 20 TIGD7 0 genome.wustl.edu 37 16 3350127 3350127 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 3350127 3350127 A G SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.488 p.I163T 0.224 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 203 0 0 170 28 14.1414 NLRC3 0 genome.wustl.edu 37 16 3614999 3614999 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 3614999 3614999 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.180 p.G60 0.019 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 37 0 0 25 14 35.8974 MRPL28 0 genome.wustl.edu 37 16 419103 419103 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 419103 419103 C T SNP MRPL28 ENST00000199706 human ensembl 74_37 -1 known missense c.406 p.D136N 1.000 NULL NULL - no_errors MRPL28 HGNC ENSG00000086504 60 0 0 48 10 17.2414 ORC6 0 genome.wustl.edu 37 16 46723639 46723639 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 46723639 46723639 C T SNP ORC6 ENST00000219097 human ensembl 74_37 +1 known missense c.22 p.R8C 0.001 pfam_ORC6 pfam_ORC6 - no_errors ORC6 HGNC ENSG00000091651 17 0 0 19 3 13.6364 C16orf71 0 genome.wustl.edu 37 16 4786531 4786531 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 4786531 4786531 A G SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known missense c.16 p.K6E 0.056 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 81 0 0 55 6 9.83607 ABCC11 0 genome.wustl.edu 37 16 48201547 48201547 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 48201547 48201547 C A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.3916 p.A1306S 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,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 ABCC11 HGNC ENSG00000121270 234 0 0 174 27 13.4328 SEPT12 0 genome.wustl.edu 37 16 4833442 4833442 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 4833442 4833442 T C SNP SEPT12 ENST00000587603 human ensembl 74_37 -1 known silent c.747 p.G249 0.013 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pfam_Cell_div_FtsK/SpoIIIE,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 113 0 0 88 13 12.8713 PPL 0 genome.wustl.edu 37 16 4934623 4934623 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 4934623 4934623 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.4033 p.R1345W 0.983 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 390 2 0.510204 286 78 21.4286 CHD9 0 genome.wustl.edu 37 16 53243646 53243646 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 53243646 53243646 A T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.1705 p.R569W 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 50 0 0 24 8 25 FTO 0 genome.wustl.edu 37 16 53859941 53859941 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 53859941 53859941 A G SNP FTO ENST00000471389 human ensembl 74_37 +1 known missense c.289 p.I97V 1.000 NULL NULL - no_errors FTO HGNC ENSG00000140718 116 0 0 93 21 18.4211 CES1 0 genome.wustl.edu 37 16 55857555 55857555 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 55857555 55857555 G A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.446 p.A149V 0.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 106 1 0.934579 72 4 5.26316 GPR56 0 genome.wustl.edu 37 16 57694771 57694771 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 57694771 57694771 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known silent c.1665 p.G555 0.001 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 33 0 0 30 3 9.09091 CDH5 0 genome.wustl.edu 37 16 66436970 66436970 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 66436970 66436970 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known silent c.2253 p.S751 0.347 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 44 0 0 22 10 31.25 CES3 0 genome.wustl.edu 37 16 66997277 66997277 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 66997277 66997277 C T SNP CES3 ENST00000303334 human ensembl 74_37 +1 known missense c.278 p.A93V 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 110 0 0 75 12 13.7931 CES4A 0 genome.wustl.edu 37 16 67043039 67043039 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 67043039 67043039 A G SNP CES4A ENST00000326686 human ensembl 74_37 +1 known silent c.1680 p.Q560 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 178 0 0 142 31 17.9191 HSF4 0 genome.wustl.edu 37 16 67199648 67199648 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 67199648 67199648 G A SNP HSF4 ENST00000264009 human ensembl 74_37 +1 known missense c.259 p.E87K 1.000 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 58 0 0 36 3 7.69231 FHOD1 0 genome.wustl.edu 37 16 67265195 67265195 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 67265195 67265195 G A SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known missense c.2563 p.R855C 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 72 0 0 52 6 10.3448 FHOD1 0 genome.wustl.edu 37 16 67271645 67271645 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 67271645 67271645 C T SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known silent c.669 p.L223 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 102 0 0 61 14 18.6667 PLEKHG4 0 genome.wustl.edu 37 16 67318714 67318714 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 67318714 67318714 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known silent c.1791 p.R597 0.992 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 34 0 0 34 4 10.5263 SLC12A4 0 genome.wustl.edu 37 16 67980958 67980958 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 67980958 67980958 T C SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.2129 p.Y710C 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 32 0 0 19 2 9.52381 ZFHX3 0 genome.wustl.edu 37 16 72845891 72845891 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 72845891 72845891 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.3576 p.T1192 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 152 0 0 103 23 18.254 CHST6 0 genome.wustl.edu 37 16 75512732 75512732 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 75512732 75512732 G T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.995 p.A332D 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 91 0 0 81 16 16.4948 CHST5 0 genome.wustl.edu 37 16 75563452 75563452 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 75563452 75563452 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known silent c.849 p.A283 0.311 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 118 0 0 89 16 15.2381 NARFL 0 genome.wustl.edu 37 16 780438 780438 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 780438 780438 A G SNP NARFL ENST00000251588 human ensembl 74_37 -1 known silent c.1410 p.T470 0.282 NULL pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 95 0 0 104 14 11.8644 MAF 0 genome.wustl.edu 37 16 79633683 79633683 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 79633683 79633683 G A SNP MAF ENST00000326043 human ensembl 74_37 -1 known silent c.117 p.T39 1.000 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAF HGNC ENSG00000178573 68 0 0 45 9 16.6667 ACSF3 0 genome.wustl.edu 37 16 89169086 89169086 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 89169086 89169086 C T SNP ACSF3 ENST00000317447 human ensembl 74_37 +1 known silent c.741 p.V247 0.990 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 71 0 0 58 9 13.4328 GAS8 0 genome.wustl.edu 37 16 90108829 90108829 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 90108829 90108829 C T SNP GAS8 ENST00000540721 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors GAS8 HGNC ENSG00000141013 34 0 0 31 2 6.06061 POLR3K 0 genome.wustl.edu 37 16 97531 97531 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 97531 97531 G A SNP POLR3K ENST00000293860 human ensembl 74_37 -1 known missense c.226 p.R76C 0.998 pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS pfam_Znf_TFIIS,pfam_DNA-dir_RNA_pol_M/15kDasu,smart_DNA-dir_RNA_pol_M/15kDasu,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors POLR3K HGNC ENSG00000161980 73 0 0 47 11 18.9655 SCARF1 0 genome.wustl.edu 37 17 1538421 1538421 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 1538421 1538421 G A SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known silent c.2124 p.V708 0.985 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 80 0 0 45 10 18.1818 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 98 0 0 92 12 11.5385 SERPINF2 0 genome.wustl.edu 37 17 1649113 1649113 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 1649113 1649113 C A SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known missense c.277 p.L93M 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 156 0 0 106 22 17.1875 TNFRSF13B 0 genome.wustl.edu 37 17 16843050 16843050 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 16843050 16843050 G T SNP TNFRSF13B ENST00000261652 human ensembl 74_37 -1 known missense c.693 p.S231R 1.000 prints_TNFR_13B pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 54 0 0 45 15 25 RAI1 0 genome.wustl.edu 37 17 17700556 17700556 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 17700556 17700556 C A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.4294 p.P1432T 0.969 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 92 0 0 67 8 10.6667 LRRC48 0 genome.wustl.edu 37 17 17896209 17896209 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 17896209 17896209 G A SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known missense c.575 p.R192H 0.996 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 87 0 0 64 5 7.24638 MYO15A 0 genome.wustl.edu 37 17 18022183 18022183 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 18022183 18022183 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.69 p.P23 0.067 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 39 0 0 24 8 25 RTN4RL1 0 genome.wustl.edu 37 17 1840945 1840945 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 1840945 1840945 C T SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known silent c.171 p.E57 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 41 0 0 33 7 17.5 MAPK7 0 genome.wustl.edu 37 17 19284193 19284193 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 19284193 19284193 C T SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.671 p.T224M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK7 HGNC ENSG00000166484 45 0 0 23 4 14.8148 SLC13A2 0 genome.wustl.edu 37 17 26816239 26816239 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 26816239 26816239 A G SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.110 p.Y37C 0.670 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 94 0 0 79 16 16.8421 ALDOC 0 genome.wustl.edu 37 17 26900833 26900833 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 26900833 26900833 G T SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known missense c.919 p.Q307K 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 155 1 0.641026 105 27 20.4545 SUPT6H 0 genome.wustl.edu 37 17 27008285 27008285 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 27008285 27008285 T A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.1361 p.V454D 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 111 0 0 114 7 5.78512 GIT1 0 genome.wustl.edu 37 17 27905345 27905345 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 27905345 27905345 G A SNP GIT1 ENST00000394869 human ensembl 74_37 -1 known silent c.882 p.D294 0.191 pfam_GIT_SHD,smart_GIT_SHD pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT1 HGNC ENSG00000108262 119 0 0 109 21 16.1538 NSRP1 0 genome.wustl.edu 37 17 28511844 28511844 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 28511844 28511844 G A SNP NSRP1 ENST00000247026 human ensembl 74_37 +1 known missense c.829 p.E277K 0.000 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 47 0 0 33 13 28.2609 ENSG00000214719 0 genome.wustl.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 28961033 28961033 T G SNP ENSG00000214719 ENST00000398849 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000214719 30 0 0 36 4 10 CDK5R1 0 genome.wustl.edu 37 17 30814811 30814811 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 30814811 30814811 T C SNP CDK5R1 ENST00000313401 human ensembl 74_37 +1 known missense c.173 p.V58A 1.000 pfam_CDK5_activator,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R1 HGNC ENSG00000176749 108 1 0.917431 97 18 15.6522 UNC45B 0 genome.wustl.edu 37 17 33497136 33497136 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 33497136 33497136 G A SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known nonsense c.1551 p.W517* 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 167 0 0 124 35 22.0126 SYNRG 0 genome.wustl.edu 37 17 35937667 35937667 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 35937667 35937667 T C SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.634 p.T212A 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 193 0 0 151 25 14.2045 PLXDC1 0 genome.wustl.edu 37 17 37226124 37226124 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 37226124 37226124 C T SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known silent c.1368 p.A456 0.013 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 89 0 0 69 15 17.8571 PLXDC1 0 genome.wustl.edu 37 17 37243922 37243922 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 37243922 37243922 C T SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known missense c.845 p.R282H 0.996 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 43 0 0 40 10 20 ERBB2 0 genome.wustl.edu 37 17 37866359 37866359 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 37866359 37866359 G T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.664 p.G222C 0.311 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom 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 ERBB2 HGNC ENSG00000141736 119 1 0.833333 107 22 17.0543 GRB7 0 genome.wustl.edu 37 17 37902012 37902012 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 37902012 37902012 T C SNP GRB7 ENST00000445327 human ensembl 74_37 +1 known missense c.1310 p.M437T 0.983 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 112 1 0.884956 88 17 16.1905 GSDMA 0 genome.wustl.edu 37 17 38126776 38126776 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 38126776 38126776 A C SNP GSDMA ENST00000301659 human ensembl 74_37 +1 known missense c.434 p.D145A 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 42 0 0 30 4 11.7647 NR1D1 0 genome.wustl.edu 37 17 38252191 38252191 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 38252191 38252191 G T SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.754 p.P252T 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 31 0 0 30 5 14.2857 ATP2A3 0 genome.wustl.edu 37 17 3833644 3833644 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 3833644 3833644 T C SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.2695 p.M899V 1.000 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 33 0 0 31 7 18.4211 KRT13 0 genome.wustl.edu 37 17 39661394 39661394 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 39661394 39661394 G A SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.409 p.R137C 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 158 0 0 110 23 17.2932 JUP 0 genome.wustl.edu 37 17 39925887 39925887 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 39925887 39925887 C T SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.251 p.R84Q 1.000 prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 34 0 0 27 3 10 STAT5B 0 genome.wustl.edu 37 17 40362289 40362289 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 40362289 40362289 C A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.1806 p.Q602H 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 96 0 0 84 15 15.1515 GRN 0 genome.wustl.edu 37 17 42430105 42430105 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 42430105 42430105 G A SNP GRN ENST00000053867 human ensembl 74_37 +1 known missense c.1721 p.R574H 0.000 NULL pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 55 0 0 51 13 20.3125 DBF4B 0 genome.wustl.edu 37 17 42824762 42824762 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 42824762 42824762 C T SNP DBF4B ENST00000315005 human ensembl 74_37 +1 known missense c.943 p.L315F 1.000 pfam_Znf_DBF,smart_Znf_DBF pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4B HGNC ENSG00000161692 79 0 0 71 16 18.3908 SPNS3 0 genome.wustl.edu 37 17 4337322 4337322 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 4337322 4337322 G T SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known missense c.60 p.Q20H 0.013 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 57 0 0 50 11 18.0328 STH 0 genome.wustl.edu 37 17 44076862 44076862 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 44076862 44076862 A G SNP STH ENST00000537309 human ensembl 74_37 +1 known missense c.217 p.I73V 0.000 NULL NULL - no_errors STH HGNC ENSG00000256762 50 0 0 31 7 18.4211 ARRB2 0 genome.wustl.edu 37 17 4620985 4620985 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 4620985 4620985 C T SNP ARRB2 ENST00000574502 human ensembl 74_37 +1 known missense c.181 p.R61W 0.860 NULL superfamily_Ig_E-set - no_errors ARRB2 HGNC ENSG00000141480 102 1 0.970874 94 16 14.5455 B4GALNT2 0 genome.wustl.edu 37 17 47233956 47233956 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 47233956 47233956 C T SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known silent c.669 p.P223 0.001 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 139 0 0 105 28 21.0526 CACNA1G 0 genome.wustl.edu 37 17 48704077 48704077 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 48704077 48704077 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.7099 p.G2367S 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 171 0 0 132 8 5.71429 CAMTA2 0 genome.wustl.edu 37 17 4883536 4883536 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 4883536 4883536 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.1150 p.G384S 0.964 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 52 0 0 47 10 17.5439 CA10 0 genome.wustl.edu 37 17 49825029 49825029 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 49825029 49825029 C T SNP CA10 ENST00000340813 human ensembl 74_37 -1 known silent c.447 p.S149 0.146 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 182 0 0 179 37 17.1296 NUP88 0 genome.wustl.edu 37 17 5292206 5292206 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 5292206 5292206 C T SNP NUP88 ENST00000573584 human ensembl 74_37 -1 known missense c.1559 p.R520H 0.939 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 67 0 0 38 7 15.5556 RPS6KB1 0 genome.wustl.edu 37 17 58013600 58013600 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 58013600 58013600 C T SNP RPS6KB1 ENST00000225577 human ensembl 74_37 +1 known missense c.1003 p.R335C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB1 HGNC ENSG00000108443 149 0 0 123 32 20.6452 FTSJ3 0 genome.wustl.edu 37 17 61902275 61902275 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 61902275 61902275 A G SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known silent c.726 p.A242 0.986 pfam_rRNA_MeTfrase_Spb1_DUF3381 pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 71 0 0 52 13 20 SCN4A 0 genome.wustl.edu 37 17 62022940 62022940 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 62022940 62022940 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.3500 p.C1167Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 303 0 0 255 64 20.0627 SCN4A 0 genome.wustl.edu 37 17 62050177 62050177 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 62050177 62050177 G T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.25 p.L9M 0.958 prints_Na_channel_a4su pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 37 0 0 24 9 27.2727 SMURF2 0 genome.wustl.edu 37 17 62594568 62594568 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 62594568 62594568 A G SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known silent c.132 p.S44 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF2 HGNC ENSG00000108854 124 0 0 106 18 14.5161 LRRC37A3 0 genome.wustl.edu 37 17 62855982 62855982 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 62855982 62855982 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.4282 p.A1428T 0.007 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 98 0 0 50 19 27.5362 CEP112 0 genome.wustl.edu 37 17 63923699 63923699 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 63923699 63923699 C T SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known splice_site c.1980+1 e18+1 1.000 - - - no_errors CEP112 HGNC ENSG00000154240 67 0 0 46 7 13.2075 KPNA2 0 genome.wustl.edu 37 17 66040600 66040600 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 66040600 66040600 C T SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known missense c.1328 p.A443V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 419 0 0 374 55 12.8205 TMEM104 0 genome.wustl.edu 37 17 72832176 72832176 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 72832176 72832176 G A SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.841 p.V281I 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 137 0 0 86 26 23.2143 GRIN2C 0 genome.wustl.edu 37 17 72846360 72846360 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 72846360 72846360 G A SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known silent c.1476 p.N492 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 119 0 0 61 55 47.4138 OTOP3 0 genome.wustl.edu 37 17 72942899 72942899 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 72942899 72942899 C T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.949 p.R317C 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 281 0 0 211 36 14.5749 NLGN2 0 genome.wustl.edu 37 17 7319413 7319413 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 7319413 7319413 T G SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.1621 p.F541V 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 83 0 0 69 8 10.3896 CASKIN2 0 genome.wustl.edu 37 17 73500034 73500034 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 73500034 73500034 C T SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.1477 p.A493T 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 37 0 0 35 7 16.6667 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 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 37 0 0 32 4 11.1111 BIRC5 0 genome.wustl.edu 37 17 76219627 76219627 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 76219627 76219627 A G SNP BIRC5 ENST00000301633 human ensembl 74_37 +1 known missense c.490 p.M164V 0.000 NULL pfam_BIR,smart_BIR,pfscan_BIR - no_errors BIRC5 HGNC ENSG00000089685 54 0 0 43 5 10.4167 PGS1 0 genome.wustl.edu 37 17 76400143 76400143 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 76400143 76400143 C T SNP PGS1 ENST00000262764 human ensembl 74_37 +1 known missense c.1375 p.R459W 1.000 pirsf_PLipase-D_PtdSer-synthase-type pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 15 0 0 13 3 18.75 ENPP7 0 genome.wustl.edu 37 17 77709383 77709383 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 77709383 77709383 C T SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known missense c.941 p.A314V 0.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 64 0 0 66 8 10.8108 RNF213 0 genome.wustl.edu 37 17 78320622 78320622 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 78320622 78320622 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.8487 p.Q2829 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 66 0 0 60 12 16.6667 BAIAP2 0 genome.wustl.edu 37 17 79060288 79060288 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 79060288 79060288 G A SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known missense c.397 p.A133T 0.810 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 191 0 0 141 10 6.62252 BAIAP2 0 genome.wustl.edu 37 17 79078359 79078359 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 79078359 79078359 T C SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known missense c.1112 p.L371P 1.000 superfamily_SH3_domain pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 98 0 0 90 15 14.2857 PYCR1 0 genome.wustl.edu 37 17 79892203 79892203 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 79892203 79892203 G A SNP PYCR1 ENST00000329875 human ensembl 74_37 -1 known missense c.796 p.R266W 0.995 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC ENSG00000183010 51 0 0 52 7 11.8644 ARHGEF15 0 genome.wustl.edu 37 17 8219453 8219453 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 8219453 8219453 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1691 p.R564H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 29 0 0 23 3 11.5385 PIEZO2 0 genome.wustl.edu 37 18 10677801 10677801 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 10677801 10677801 C T SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known missense c.1556 p.R519Q 0.132 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 75 0 0 47 12 20.339 TUBB6 0 genome.wustl.edu 37 18 12325183 12325183 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 12325183 12325183 G A SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.395 p.G132D 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 92 0 0 68 12 15 POTEC 0 genome.wustl.edu 37 18 14542908 14542908 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 14542908 14542908 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.238 p.V80M 0.003 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 POTEC HGNC ENSG00000183206 552 0 0 512 34 6.22711 ZNF521 0 genome.wustl.edu 37 18 22669475 22669475 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 22669475 22669475 T A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3860 p.D1287V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 76 0 0 64 6 8.57143 SLC39A6 0 genome.wustl.edu 37 18 33704629 33704629 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 33704629 33704629 C T SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.824 p.G275D 1.000 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 75 0 0 63 12 16 MOCOS 0 genome.wustl.edu 37 18 33795561 33795561 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 33795561 33795561 C T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.1418 p.S473L 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 63 0 0 54 11 16.9231 FHOD3 0 genome.wustl.edu 37 18 34156416 34156416 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 34156416 34156416 T C SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known silent c.514 p.L172 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 64 0 0 30 10 25 CELF4 0 genome.wustl.edu 37 18 34833784 34833784 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 34833784 34833784 C T SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.1451 p.R484H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 101 0 0 81 11 11.9565 EPG5 0 genome.wustl.edu 37 18 43481065 43481065 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 43481065 43481065 C T SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known silent c.4542 p.P1514 0.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 117 0 0 88 17 16.1905 CXXC1 0 genome.wustl.edu 37 18 47809282 47809282 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 47809282 47809282 C T SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.1778 p.R593H 1.000 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 74 0 0 41 3 6.81818 MRO 0 genome.wustl.edu 37 18 48333094 48333094 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 48333094 48333094 C T SNP MRO ENST00000436348 human ensembl 74_37 -1 known missense c.268 p.A90T 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MRO HGNC ENSG00000134042 173 0 0 154 31 16.7568 DCC 0 genome.wustl.edu 37 18 51013231 51013231 + Silent SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 51013231 51013231 T A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3801 p.S1267 0.969 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 146 0 0 115 32 21.7687 CDH20 0 genome.wustl.edu 37 18 59206270 59206270 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 59206270 59206270 G T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.1422 p.Q474H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 151 0 0 105 11 9.48276 RTTN 0 genome.wustl.edu 37 18 67817279 67817279 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 67817279 67817279 T C SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.2100 p.G700 0.808 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 67 0 0 73 6 7.59494 LAMA1 0 genome.wustl.edu 37 18 6942108 6942108 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 6942108 6942108 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.9198 p.F3066 0.976 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 125 0 0 118 21 15.1079 LAMA1 0 genome.wustl.edu 37 18 6949117 6949117 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 6949117 6949117 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8539 p.A2847T 0.897 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 49 0 0 55 4 6.77966 LAMA1 0 genome.wustl.edu 37 18 6985243 6985243 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 6985243 6985243 G T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.5653 p.L1885M 0.162 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 211 1 0.471698 147 37 20.1087 LAMA1 0 genome.wustl.edu 37 18 7014008 7014008 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 7014008 7014008 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.3169 p.D1057N 0.111 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 39 0 0 15 8 34.7826 LAMA1 0 genome.wustl.edu 37 18 7049221 7049221 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 7049221 7049221 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.624 p.A208 0.929 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 98 0 0 77 15 16.3043 ENSG00000264340 0 genome.wustl.edu 37 18 72229273 72229273 + RNA SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 72229273 72229273 T C SNP ENSG00000264340 ENST00000583702 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-231E4.3 Clone_based_vega_gene ENSG00000264340 96 0 0 63 21 25 NFATC1 0 genome.wustl.edu 37 18 77170867 77170867 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 77170867 77170867 G A SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.592 p.A198T 0.980 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 145 0 0 118 9 7.08661 SOGA2 0 genome.wustl.edu 37 18 8718506 8718506 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 8718506 8718506 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.58 p.R20W 0.996 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 96 0 0 90 15 14.2857 ANKRD12 0 genome.wustl.edu 37 18 9258243 9258243 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 9258243 9258243 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.4978 p.P1660S 0.965 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 ANKRD12 HGNC ENSG00000101745 32 0 0 28 8 22.2222 EIF3G 0 genome.wustl.edu 37 19 10226702 10226702 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 10226702 10226702 G A SNP EIF3G ENST00000253108 human ensembl 74_37 -1 known missense c.644 p.P215L 0.998 pirsf_eIF3_g pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3_g,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 42 0 0 35 5 12.5 QTRT1 0 genome.wustl.edu 37 19 10823277 10823277 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 10823277 10823277 C T SNP QTRT1 ENST00000250237 human ensembl 74_37 +1 known silent c.834 p.F278 1.000 pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like - no_errors QTRT1 HGNC ENSG00000213339 207 0 0 194 11 5.36585 SBNO2 0 genome.wustl.edu 37 19 1109760 1109760 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 1109760 1109760 G A SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known silent c.3045 p.I1015 0.000 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 54 0 0 55 9 14.0625 ZNF563 0 genome.wustl.edu 37 19 12429861 12429861 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 12429861 12429861 T C SNP ZNF563 ENST00000293725 human ensembl 74_37 -1 known missense c.978 p.I326M 0.209 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 ZNF563 HGNC ENSG00000188868 183 0 0 152 28 15.5556 TNPO2 0 genome.wustl.edu 37 19 12826219 12826219 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 12826219 12826219 C T SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.566 p.R189Q 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 91 0 0 75 15 16.6667 MAST1 0 genome.wustl.edu 37 19 12985178 12985178 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 12985178 12985178 A T SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.4207 p.M1403L 0.002 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 MAST1 HGNC ENSG00000105613 44 0 0 34 3 8.10811 MUM1 0 genome.wustl.edu 37 19 1362336 1362336 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 1362336 1362336 T C SNP MUM1 ENST00000344663 human ensembl 74_37 +1 known missense c.1202 p.V401A 0.849 NULL pfam_PWWP_dom - no_errors MUM1 HGNC ENSG00000160953 51 0 0 32 6 15.7895 DAZAP1 0 genome.wustl.edu 37 19 1432615 1432615 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 1432615 1432615 C T SNP DAZAP1 ENST00000233078 human ensembl 74_37 +1 known missense c.974 p.P325L 0.985 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 151 1 0.657895 123 34 21.6561 NWD1 0 genome.wustl.edu 37 19 16860328 16860328 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 16860328 16860328 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.875 p.A292V 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 63 0 0 45 7 13.4615 GTPBP3 0 genome.wustl.edu 37 19 17449796 17449796 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 17449796 17449796 G A SNP GTPBP3 ENST00000358792 human ensembl 74_37 +1 known missense c.625 p.G209S 0.999 superfamily_P-loop_NTPase pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 85 0 0 71 18 20.2247 SLC27A1 0 genome.wustl.edu 37 19 17611367 17611367 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 17611367 17611367 A G SNP SLC27A1 ENST00000252595 human ensembl 74_37 +1 known missense c.1397 p.Y466C 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 22 0 0 20 4 16.6667 COLGALT1 0 genome.wustl.edu 37 19 17692195 17692195 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 17692195 17692195 C G SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.1811 p.A604G 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 64 0 0 52 10 16.129 FCHO1 0 genome.wustl.edu 37 19 17886908 17886908 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 17886908 17886908 G A SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.1120 p.E374K 0.973 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 118 0 0 78 28 26.4151 B3GNT3 0 genome.wustl.edu 37 19 17919127 17919127 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 17919127 17919127 G A SNP B3GNT3 ENST00000318683 human ensembl 74_37 +1 known missense c.511 p.G171R 0.023 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC ENSG00000179913 78 0 0 69 4 5.47945 ATP13A1 0 genome.wustl.edu 37 19 19758041 19758041 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 19758041 19758041 C T SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.3002 p.S1001N 1.000 tigrfam_ATPase_P-typ_Cation_typ_V 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_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 139 0 0 111 25 18.3824 ZNF43 0 genome.wustl.edu 37 19 21991137 21991137 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 21991137 21991137 A C SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1702 p.C568G 0.799 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 ZNF43 HGNC ENSG00000198521 85 0 0 71 17 19.3182 ZNF43 0 genome.wustl.edu 37 19 21992108 21992108 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 21992108 21992108 C T SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.731 p.R244H 0.000 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 ZNF43 HGNC ENSG00000198521 63 0 0 54 10 15.625 DOT1L 0 genome.wustl.edu 37 19 2222099 2222099 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 2222099 2222099 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known silent c.2931 p.T977 0.001 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 69 0 0 34 9 20.9302 C19orf12 0 genome.wustl.edu 37 19 30193763 30193763 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 30193763 30193763 G A SNP C19orf12 ENST00000392278 human ensembl 74_37 -1 known silent c.315 p.A105 0.687 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 87 0 0 64 15 18.9873 ZNF536 0 genome.wustl.edu 37 19 30934972 30934972 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 30934972 30934972 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.503 p.A168V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 63 0 0 31 5 13.8889 HPN 0 genome.wustl.edu 37 19 35556774 35556774 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 35556774 35556774 C T SNP HPN ENST00000262626 human ensembl 74_37 +1 known silent c.1053 p.G351 0.004 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 121 0 0 103 27 20.7692 LSR 0 genome.wustl.edu 37 19 35752847 35752847 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 35752847 35752847 T C SNP LSR ENST00000361790 human ensembl 74_37 +1 known silent c.738 p.A246 1.000 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 123 0 0 100 26 20.6349 MAG 0 genome.wustl.edu 37 19 35800926 35800926 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 35800926 35800926 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.1381 p.V461M 1.000 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 95 0 0 71 20 21.978 FFAR3 0 genome.wustl.edu 37 19 35850476 35850476 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 35850476 35850476 G A SNP FFAR3 ENST00000327809 human ensembl 74_37 +1 known silent c.684 p.A228 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR3 HGNC ENSG00000185897 154 0 0 117 10 7.87402 LOC100506469 0 genome.wustl.edu 37 19 36034524 36034524 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 36034524 36034524 G A SNP LOC100506469 ENST00000588286 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 102 0 0 89 14 13.5922 KMT2B 0 genome.wustl.edu 37 19 36211852 36211852 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 36211852 36211852 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.1603 p.R535C 1.000 pirsf_MeTrfase_trithorax 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_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 18 0 0 19 6 24 PIP5K1C 0 genome.wustl.edu 37 19 3653503 3653503 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 3653503 3653503 C T SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known missense c.706 p.V236M 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 108 0 0 96 17 15.0442 WDR62 0 genome.wustl.edu 37 19 36594727 36594727 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 36594727 36594727 G T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known nonsense c.3997 p.E1333* 0.005 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 99 0 0 89 9 9.18367 ZNF565 0 genome.wustl.edu 37 19 36686014 36686014 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 36686014 36686014 T A SNP ZNF565 ENST00000304116 human ensembl 74_37 -1 known missense c.54 p.E18D 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF565 HGNC ENSG00000196357 126 0 0 106 21 16.5354 MATK 0 genome.wustl.edu 37 19 3779120 3779120 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 3779120 3779120 C T SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.1070 p.R357H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 34 0 0 31 7 18.4211 HKR1 0 genome.wustl.edu 37 19 37854405 37854405 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 37854405 37854405 A C SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known silent c.1708 p.R570 0.003 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 HKR1 HGNC ENSG00000181666 76 0 0 57 8 12.3077 PPP1R14A 0 genome.wustl.edu 37 19 38742064 38742064 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 38742064 38742064 G A SNP PPP1R14A ENST00000301242 human ensembl 74_37 -1 known missense c.338 p.A113V 0.055 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14A HGNC ENSG00000167641 47 0 0 25 7 21.875 FAM98C 0 genome.wustl.edu 37 19 38899499 38899499 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 38899499 38899499 C T SNP FAM98C ENST00000252530 human ensembl 74_37 +1 known missense c.1027 p.R343C 0.230 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 100 0 0 74 19 20.4301 NMRK2 0 genome.wustl.edu 37 19 3941175 3941175 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 3941175 3941175 G T SNP NMRK2 ENST00000168977 human ensembl 74_37 +1 known missense c.502 p.V168F 0.995 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors NMRK2 HGNC ENSG00000077009 110 1 0.900901 88 23 20.7207 IFNL3 0 genome.wustl.edu 37 19 39735458 39735458 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 39735458 39735458 C T SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known silent c.150 p.L50 0.975 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 52 0 0 44 8 15.3846 MAP3K10 0 genome.wustl.edu 37 19 40704384 40704384 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 40704384 40704384 G A SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.785 p.S262N 1.000 pirsf_MAPKKK9/10/11,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_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 69 0 0 45 8 15.0943 HIPK4 0 genome.wustl.edu 37 19 40886552 40886552 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 40886552 40886552 G A SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.1346 p.A449V 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK4 HGNC ENSG00000160396 158 0 0 121 34 21.9355 C19orf54 0 genome.wustl.edu 37 19 41248565 41248565 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 41248565 41248565 G A SNP C19orf54 ENST00000378313 human ensembl 74_37 -1 known missense c.829 p.P277S 1.000 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 28 0 0 28 3 9.67742 EGLN2 0 genome.wustl.edu 37 19 41306679 41306679 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 41306679 41306679 G A SNP EGLN2 ENST00000303961 human ensembl 74_37 +1 known missense c.202 p.A68T 0.181 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN2 HGNC ENSG00000269858 39 0 0 29 3 9.375 B9D2 0 genome.wustl.edu 37 19 41860739 41860739 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 41860739 41860739 G A SNP B9D2 ENST00000243578 human ensembl 74_37 -1 known missense c.394 p.P132S 0.999 pfam_B9_dom pfam_B9_dom - no_errors B9D2 HGNC ENSG00000123810 77 0 0 50 13 20.6349 ZNF526 0 genome.wustl.edu 37 19 42729561 42729561 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 42729561 42729561 A G SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.1006 p.T336A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 63 0 0 53 9 14.5161 ZNF526 0 genome.wustl.edu 37 19 42730480 42730480 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 42730480 42730480 C T SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.1925 p.A642V 0.954 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 170 0 0 139 31 18.2353 MEGF8 0 genome.wustl.edu 37 19 42848624 42848624 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 42848624 42848624 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.1820 p.R607H 1.000 smart_Plexin-like_fold pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 75 0 0 49 14 22.2222 ZNF235 0 genome.wustl.edu 37 19 44792076 44792076 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 44792076 44792076 G A SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known silent c.1512 p.S504 0.043 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 ZNF235 HGNC ENSG00000159917 133 0 0 112 20 15.1515 PVRL2 0 genome.wustl.edu 37 19 45385524 45385524 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 45385524 45385524 G A SNP PVRL2 ENST00000252483 human ensembl 74_37 +1 known missense c.1099 p.A367T 0.952 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 27 0 0 19 5 20.8333 MARK4 0 genome.wustl.edu 37 19 45783878 45783878 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 45783878 45783878 C T SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known missense c.1162 p.R388W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 84 0 0 68 12 15 FAM83E 0 genome.wustl.edu 37 19 49107020 49107020 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 49107020 49107020 C T SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.907 p.G303S 0.450 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 27 0 0 20 4 16.6667 FLT3LG 0 genome.wustl.edu 37 19 49983619 49983619 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 49983619 49983619 G A SNP FLT3LG ENST00000594009 human ensembl 74_37 +1 known silent c.546 p.P182 0.000 NULL pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core - no_errors FLT3LG HGNC ENSG00000090554 34 0 0 34 3 8.10811 RPL13A 0 genome.wustl.edu 37 19 49993758 49993758 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 49993758 49993758 C T SNP RPL13A ENST00000391857 human ensembl 74_37 +1 known missense c.181 p.R61W 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 71 0 0 64 5 7.24638 SCAF1 0 genome.wustl.edu 37 19 50154616 50154616 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 50154616 50154616 G A SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.970 p.A324T 0.008 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 44 0 0 39 10 20.4082 LRRC4B 0 genome.wustl.edu 37 19 51022666 51022666 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 51022666 51022666 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.304 p.R102W 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,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 LRRC4B HGNC ENSG00000131409 31 0 0 18 3 14.2857 KLK8 0 genome.wustl.edu 37 19 51503767 51503767 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 51503767 51503767 G A SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known missense c.278 p.A93V 0.009 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 107 0 0 101 11 9.82143 ZNF347 0 genome.wustl.edu 37 19 53644036 53644036 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 53644036 53644036 T C SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.2048 p.Q683R 0.001 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 ZNF347 HGNC ENSG00000197937 162 0 0 108 29 21.1679 ZNF677 0 genome.wustl.edu 37 19 53741121 53741121 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 53741121 53741121 C T SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.859 p.G287R 0.996 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 ZNF677 HGNC ENSG00000197928 121 0 0 112 27 19.4245 MIR518B 0 genome.wustl.edu 37 19 54206014 54206014 + RNA SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 54206014 54206014 A G SNP MIR518B ENST00000385127 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors MIR518B HGNC ENSG00000207862 85 0 0 57 6 9.52381 MIR518B 0 genome.wustl.edu 37 19 54206046 54206046 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 54206046 54206046 C T SNP MIR518B ENST00000385127 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors MIR518B HGNC ENSG00000207862 67 0 0 34 21 38.1818 NLRP12 0 genome.wustl.edu 37 19 54297338 54297338 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 54297338 54297338 G A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known nonsense c.3151 p.R1051* 0.212 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 92 0 0 75 13 14.7727 MYADM 0 genome.wustl.edu 37 19 54376803 54376803 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 54376803 54376803 G A SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.20 p.R7H 0.700 NULL pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 83 0 0 78 20 20.4082 PRKCG 0 genome.wustl.edu 37 19 54401306 54401306 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 54401306 54401306 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.1033 p.R345C 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 97 0 0 63 15 19.2308 LENG1 0 genome.wustl.edu 37 19 54662025 54662025 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 54662025 54662025 C T SNP LENG1 ENST00000222224 human ensembl 74_37 -1 known missense c.307 p.E103K 1.000 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 181 0 0 132 21 13.7255 LILRB3 0 genome.wustl.edu 37 19 54720971 54720971 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 54720971 54720971 G A SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known silent c.1938 p.A646 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 99 0 0 88 21 19.2661 LILRB2 0 genome.wustl.edu 37 19 54780248 54780248 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 54780248 54780248 C T SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known missense c.1546 p.G516S 0.011 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 62 0 0 48 12 20 ENSG00000269808 0 genome.wustl.edu 37 19 55738705 55738705 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 55738705 55738705 G A SNP ENSG00000269808 ENST00000598855 human ensembl 74_37 +1 known missense c.67 p.A23T 0.029 NULL NULL - no_errors AC010327.2 Clone_based_ensembl_gene ENSG00000269808 28 0 0 20 2 9.09091 ZNF772 0 genome.wustl.edu 37 19 57987952 57987952 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 57987952 57987952 C T SNP ZNF772 ENST00000450712 human ensembl 74_37 -1 known missense c.122 p.R41H 0.000 NULL NULL - no_errors ZNF772 HGNC ENSG00000197128 62 0 0 37 11 22.9167 ZNF416 0 genome.wustl.edu 37 19 58084147 58084147 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 58084147 58084147 A C SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known silent c.1125 p.T375 0.447 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 ZNF416 HGNC ENSG00000083817 112 0 0 75 15 16.6667 ZNF814 0 genome.wustl.edu 37 19 58386508 58386508 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 58386508 58386508 C T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.250 p.A84T 0.000 pfscan_Krueppel-associated_box 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 ZNF814 HGNC ENSG00000204514 35 0 0 17 6 26.087 ZNF417 0 genome.wustl.edu 37 19 58420174 58420174 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 58420174 58420174 G A SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known missense c.1472 p.P491L 0.972 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 ZNF417 HGNC ENSG00000173480 148 0 0 97 14 12.6126 ZNF497 0 genome.wustl.edu 37 19 58868484 58868484 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 58868484 58868484 G A SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known missense c.518 p.A173V 0.117 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 28 0 0 30 5 14.2857 ZBTB45 0 genome.wustl.edu 37 19 59028581 59028581 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 59028581 59028581 G A SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known missense c.460 p.R154C 0.996 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ENSG00000119574 50 0 0 35 7 16.6667 C3 0 genome.wustl.edu 37 19 6694500 6694500 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 6694500 6694500 C A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.3096 p.E1032D 0.945 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 142 0 0 115 18 13.5338 SH2D3A 0 genome.wustl.edu 37 19 6754122 6754122 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 6754122 6754122 G A SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known missense c.1325 p.A442V 0.547 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 43 0 0 37 9 19.5652 ZNF358 0 genome.wustl.edu 37 19 7585732 7585732 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 7585732 7585732 A G SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.1604 p.D535G 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 126 0 0 109 18 14.1732 CAMSAP3 0 genome.wustl.edu 37 19 7676000 7676000 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 7676000 7676000 C T SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.1150 p.R384C 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 143 0 0 110 34 23.6111 PTBP1 0 genome.wustl.edu 37 19 805056 805056 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 805056 805056 G A SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.761 p.R254H 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 203 0 0 155 34 17.9894 PTBP1 0 genome.wustl.edu 37 19 808629 808629 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 808629 808629 C T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.1330 p.R444C 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 35 0 0 20 4 16.6667 MUC16 0 genome.wustl.edu 37 19 9063005 9063005 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 9063005 9063005 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.24441 p.T8147 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 146 0 0 113 22 16.2963 SLC9A4 0 genome.wustl.edu 37 2 103130652 103130652 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 103130652 103130652 G T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1663 p.A555S 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 115 0 0 98 23 19.0083 CCDC138 0 genome.wustl.edu 37 2 109411080 109411080 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 109411080 109411080 G T SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.479 p.S160I 0.000 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 67 0 0 67 12 15.1899 ZC3H6 0 genome.wustl.edu 37 2 113069467 113069467 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 113069467 113069467 A C SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.700 p.T234P 0.010 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 53 0 0 44 9 16.9811 RGPD8 0 genome.wustl.edu 37 2 113146043 113146043 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 113146043 113146043 T C SNP RGPD8 ENST00000302558 human ensembl 74_37 -1 known silent c.4479 p.V1493 0.977 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 260 0 0 216 25 10.3734 INHBB 0 genome.wustl.edu 37 2 121106806 121106806 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 121106806 121106806 C T SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.580 p.R194W 1.000 pfam_TGF-b_N,prints_Inhibin_betaB pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 116 1 0.854701 78 13 14.2857 GLI2 0 genome.wustl.edu 37 2 121746625 121746625 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 121746625 121746625 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.3135 p.D1045 0.168 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 47 0 0 31 11 26.1905 HS6ST1 0 genome.wustl.edu 37 2 129025949 129025949 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 129025949 129025949 G A SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known silent c.1023 p.N341 0.998 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 79 0 0 56 10 15.1515 ARHGEF4 0 genome.wustl.edu 37 2 131688588 131688588 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 131688588 131688588 T C SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.58 p.F20L 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 79 0 0 61 13 17.5676 ACMSD 0 genome.wustl.edu 37 2 135628620 135628620 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 135628620 135628620 C T SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known silent c.666 p.F222 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 62 0 0 36 5 12.1951 ACMSD 0 genome.wustl.edu 37 2 135630090 135630090 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 135630090 135630090 G A SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known missense c.728 p.R243H 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 62 0 0 45 8 15.0943 RAB3GAP1 0 genome.wustl.edu 37 2 135848570 135848570 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 135848570 135848570 T C SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known silent c.153 p.G51 0.977 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 89 0 0 86 19 18.0952 KYNU 0 genome.wustl.edu 37 2 143718341 143718341 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 143718341 143718341 T C SNP KYNU ENST00000264170 human ensembl 74_37 +1 known splice_site c.729+2 e7+2 1.000 - - - no_errors KYNU HGNC ENSG00000115919 122 0 0 93 21 18.4211 NEB 0 genome.wustl.edu 37 2 152374867 152374867 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 152374867 152374867 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.22765 p.L7589I 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 370 0 0 345 62 15.2334 NEB 0 genome.wustl.edu 37 2 152427010 152427010 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 152427010 152427010 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known splice_site c.17118+1 e106+1 1.000 - - - no_errors NEB HGNC ENSG00000183091 28 0 0 19 3 13.6364 RPRM 0 genome.wustl.edu 37 2 154334943 154334943 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 154334943 154334943 G A SNP RPRM ENST00000325926 human ensembl 74_37 -1 known missense c.137 p.P46L 1.000 NULL NULL - no_errors RPRM HGNC ENSG00000177519 53 0 0 48 10 17.2414 KCNJ3 0 genome.wustl.edu 37 2 155555820 155555820 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 155555820 155555820 G A SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.533 p.G178D 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 85 0 0 55 14 20.2899 ITGB6 0 genome.wustl.edu 37 2 161029225 161029225 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 161029225 161029225 C T SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known missense c.776 p.R259Q 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu 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,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 156 0 0 154 27 14.9171 TBR1 0 genome.wustl.edu 37 2 162280612 162280612 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 162280612 162280612 G A SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.1923 p.S641 0.833 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 24 0 0 16 7 30.4348 SCN2A 0 genome.wustl.edu 37 2 166243339 166243339 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 166243339 166243339 G T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.4635 p.M1545I 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 83 0 0 49 13 20.9677 XIRP2 0 genome.wustl.edu 37 2 168114854 168114854 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 168114854 168114854 T C SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known silent c.1897 p.L633 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 78 0 0 98 6 5.76923 WIPF1 0 genome.wustl.edu 37 2 175436475 175436475 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 175436475 175436475 C T SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.1058 p.R353H 0.972 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 158 0 0 117 13 10 CHN1 0 genome.wustl.edu 37 2 175666460 175666460 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 175666460 175666460 G A SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known missense c.1183 p.R395W 0.988 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 154 0 0 122 21 14.6853 CHN1 0 genome.wustl.edu 37 2 175677082 175677082 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 175677082 175677082 G A SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known missense c.841 p.R281W 0.980 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 153 0 0 125 31 19.8718 HOXD1 0 genome.wustl.edu 37 2 177054043 177054043 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 177054043 177054043 G A SNP HOXD1 ENST00000331462 human ensembl 74_37 +1 known missense c.514 p.D172N 0.773 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD1 HGNC ENSG00000128645 33 0 0 26 6 18.75 PLEKHA3 0 genome.wustl.edu 37 2 179350390 179350390 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 179350390 179350390 T G SNP PLEKHA3 ENST00000234453 human ensembl 74_37 +1 known silent c.63 p.V21 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA3 HGNC ENSG00000116095 129 0 0 93 25 21.1864 PLEKHA3 0 genome.wustl.edu 37 2 179365829 179365829 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 179365829 179365829 G A SNP PLEKHA3 ENST00000234453 human ensembl 74_37 +1 known missense c.701 p.R234Q 0.996 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA3 HGNC ENSG00000116095 150 0 0 128 8 5.88235 TTN 0 genome.wustl.edu 37 2 179479312 179479312 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 179479312 179479312 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.41225 p.V13742D 0.991 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 82 0 0 58 8 12.1212 TTN 0 genome.wustl.edu 37 2 179501146 179501146 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 179501146 179501146 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.33604 p.T11202A 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 55 0 0 42 11 20.7547 TTN 0 genome.wustl.edu 37 2 179594876 179594876 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 179594876 179594876 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14519 p.C4840Y 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 49 0 0 34 9 20.9302 TTN 0 genome.wustl.edu 37 2 179605699 179605699 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 179605699 179605699 T G SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11748 p.E3916D 1.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 157 0 0 107 18 14.4 TTN 0 genome.wustl.edu 37 2 179641123 179641123 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 179641123 179641123 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5468 p.A1823D 1.000 superfamily_RNaseH-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 178 0 0 137 26 15.9509 ZNF804A 0 genome.wustl.edu 37 2 185801192 185801192 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 185801192 185801192 G T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known nonsense c.1069 p.G357* 0.018 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 49 0 0 28 8 22.2222 STAT1 0 genome.wustl.edu 37 2 191874714 191874714 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 191874714 191874714 C T SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.16 p.E6K 0.948 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 95 0 0 64 17 20.9877 DNAH7 0 genome.wustl.edu 37 2 196749503 196749503 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 196749503 196749503 C A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.5569 p.V1857F 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 44 0 0 24 8 25 ANKRD44 0 genome.wustl.edu 37 2 197986170 197986170 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 197986170 197986170 G A SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known silent c.717 p.N239 0.886 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 64 0 0 45 13 22.4138 AOX1 0 genome.wustl.edu 37 2 201501758 201501758 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 201501758 201501758 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.2471 p.A824V 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 47 0 0 52 3 5.45455 CASP8 0 genome.wustl.edu 37 2 202136270 202136270 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 202136270 202136270 A C SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.514 p.S172R 0.000 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 62 0 0 47 16 25.3968 BMPR2 0 genome.wustl.edu 37 2 203329571 203329571 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 203329571 203329571 C T SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.116 p.P39L 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 77 0 0 66 5 7.04225 RAPH1 0 genome.wustl.edu 37 2 204354393 204354393 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 204354393 204354393 C A SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.646 p.A216S 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 180 0 0 147 11 6.96203 ZDBF2 0 genome.wustl.edu 37 2 207172264 207172264 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 207172264 207172264 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.3012 p.S1004 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 100 0 0 90 19 17.4312 ABCA12 0 genome.wustl.edu 37 2 215884381 215884381 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 215884381 215884381 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.1427 p.A476V 0.973 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 59 0 0 52 13 20 BCS1L 0 genome.wustl.edu 37 2 219527931 219527931 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 219527931 219527931 T C SNP BCS1L ENST00000359273 human ensembl 74_37 +1 known missense c.1082 p.L361P 0.999 superfamily_P-loop_NTPase pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 101 0 0 94 17 15.3153 CDK5R2 0 genome.wustl.edu 37 2 219825256 219825256 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 219825256 219825256 C T SNP CDK5R2 ENST00000302625 human ensembl 74_37 +1 known silent c.714 p.F238 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC ENSG00000171450 177 1 0.561798 134 31 18.7879 SPEG 0 genome.wustl.edu 37 2 220307889 220307889 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 220307889 220307889 C T SNP SPEG ENST00000403148 human ensembl 74_37 +1 known silent c.93 p.G31 0.082 NULL NULL - no_errors SPEG HGNC ENSG00000072195 223 0 0 172 19 9.94764 SPEG 0 genome.wustl.edu 37 2 220355249 220355249 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 220355249 220355249 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.9040 p.L3014 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 62 0 0 46 9 16.3636 CHPF 0 genome.wustl.edu 37 2 220404687 220404687 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 220404687 220404687 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known silent c.1746 p.V582 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 85 0 0 67 14 17.284 MIR3132 0 genome.wustl.edu 37 2 220413838 220413838 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 220413838 220413838 G A SNP MIR3132 ENST00000581997 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3132 HGNC ENSG00000265252 132 0 0 105 23 17.9688 NYAP2 0 genome.wustl.edu 37 2 226446717 226446717 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 226446717 226446717 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.584 p.P195L 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 226 0 0 185 39 17.4107 IRS1 0 genome.wustl.edu 37 2 227663080 227663080 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 227663080 227663080 C T SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.375 p.A125 0.001 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 93 0 0 88 14 13.7255 COL4A4 0 genome.wustl.edu 37 2 227919390 227919390 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 227919390 227919390 C T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.2780 p.G927E 0.953 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 59 0 0 64 11 14.6667 TRIP12 0 genome.wustl.edu 37 2 230650558 230650558 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 230650558 230650558 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.4784 p.R1595Q 1.000 superfamily_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 141 0 0 114 21 15.5556 SP140 0 genome.wustl.edu 37 2 231134619 231134619 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 231134619 231134619 A G SNP SP140 ENST00000392045 human ensembl 74_37 +1 known silent c.1395 p.P465 0.211 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 67 0 0 75 6 7.40741 CHRND 0 genome.wustl.edu 37 2 233398812 233398812 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 233398812 233398812 C T SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.1219 p.R407W 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 101 0 0 86 20 18.8679 GIGYF2 0 genome.wustl.edu 37 2 233684582 233684582 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 233684582 233684582 C T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.2482 p.R828* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 55 0 0 34 5 12.8205 AGAP1 0 genome.wustl.edu 37 2 236403404 236403404 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 236403404 236403404 C A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.74 p.P25H 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 86 0 0 55 7 11.2903 COL6A3 0 genome.wustl.edu 37 2 238285718 238285718 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 238285718 238285718 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.2767 p.A923T 0.622 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 86 0 0 76 14 15.5556 COL6A3 0 genome.wustl.edu 37 2 238287277 238287277 + Splice_Site SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 238287277 238287277 A G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known splice_site c.2497+2 e5+2 1.000 - - - no_errors COL6A3 HGNC ENSG00000163359 234 1 0.425532 191 32 14.3498 TRAF3IP1 0 genome.wustl.edu 37 2 239306240 239306240 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 239306240 239306240 C T SNP TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known silent c.1830 p.D610 0.974 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 135 0 0 99 12 10.8108 PASK 0 genome.wustl.edu 37 2 242076594 242076594 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 242076594 242076594 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.962 p.S321N 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 102 0 0 74 19 20.4301 ANO7 0 genome.wustl.edu 37 2 242163549 242163549 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 242163549 242163549 C T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.2783 p.A928V 0.000 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 74 0 0 61 7 10.2941 HDLBP 0 genome.wustl.edu 37 2 242170236 242170236 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 242170236 242170236 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3412 p.V1138I 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 90 0 0 55 9 14.0625 FARP2 0 genome.wustl.edu 37 2 242432348 242432348 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 242432348 242432348 A G SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.2792 p.Q931R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 66 0 0 46 4 8 ASXL2 0 genome.wustl.edu 37 2 25965810 25965810 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 25965810 25965810 G A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known silent c.3396 p.G1132 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 193 0 0 155 33 17.5532 RNU6-1117P 0 genome.wustl.edu 37 2 35696761 35696761 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 35696761 35696761 C T SNP RNU6-1117P ENST00000384525 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors RNU6-1117P HGNC ENSG00000207255 11 0 0 8 4 33.3333 ALLC 0 genome.wustl.edu 37 2 3743890 3743890 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 3743890 3743890 G A SNP ALLC ENST00000252505 human ensembl 74_37 +1 known silent c.693 p.A231 0.136 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 51 0 0 45 8 15.0943 TMEM178A 0 genome.wustl.edu 37 2 39893185 39893185 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 39893185 39893185 C T SNP TMEM178A ENST00000281961 human ensembl 74_37 +1 known missense c.71 p.T24M 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 37 0 0 22 5 18.5185 SLC8A1 0 genome.wustl.edu 37 2 40657279 40657279 + Nonsense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 40657279 40657279 C A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known nonsense c.142 p.E48* 0.145 prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 141 0 0 108 16 12.9032 ABCG5 0 genome.wustl.edu 37 2 44051074 44051074 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 44051074 44051074 G A SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known silent c.1302 p.G434 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 69 0 0 46 9 16.3636 SIX2 0 genome.wustl.edu 37 2 45235980 45235980 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 45235980 45235980 T C SNP SIX2 ENST00000303077 human ensembl 74_37 -1 known silent c.270 p.A90 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 92 0 0 78 14 15.2174 EPAS1 0 genome.wustl.edu 37 2 46583304 46583304 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 46583304 46583304 G A SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.232 p.E78K 0.998 superfamily_bHLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 102 0 0 68 14 17.0732 FBXO11 0 genome.wustl.edu 37 2 48066832 48066832 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 48066832 48066832 T C SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known silent c.309 p.R103 1.000 NULL pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 88 0 0 72 12 14.2857 MTIF2 0 genome.wustl.edu 37 2 55490842 55490842 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 55490842 55490842 C T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known nonsense c.153 p.W51* 0.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 108 0 0 83 11 11.7021 BCL11A 0 genome.wustl.edu 37 2 60688703 60688703 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 60688703 60688703 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known silent c.1344 p.P448 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 90 0 0 54 12 18.1818 SPRED2 0 genome.wustl.edu 37 2 65571937 65571937 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 65571937 65571937 G A SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known silent c.120 p.R40 0.907 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 45 0 0 30 6 16.6667 AAK1 0 genome.wustl.edu 37 2 69748037 69748037 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 69748037 69748037 C A SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.1139 p.G380V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AAK1 HGNC ENSG00000115977 197 1 0.505051 129 35 21.3415 MPHOSPH10 0 genome.wustl.edu 37 2 71365669 71365669 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 71365669 71365669 C T SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known missense c.1148 p.P383L 1.000 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 48 0 0 33 9 21.4286 DQX1 0 genome.wustl.edu 37 2 74749707 74749707 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 74749707 74749707 C A SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.1495 p.A499S 0.988 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 107 0 0 86 16 15.6863 LRRTM4 0 genome.wustl.edu 37 2 77746748 77746748 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 77746748 77746748 C T SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.250 p.G84S 0.990 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 111 0 0 77 18 18.9474 RETSAT 0 genome.wustl.edu 37 2 85581587 85581587 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 85581587 85581587 G T SNP RETSAT ENST00000295802 human ensembl 74_37 -1 known missense c.44 p.A15D 0.000 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 163 0 0 117 26 18.1818 ELMOD3 0 genome.wustl.edu 37 2 85604483 85604483 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 85604483 85604483 A G SNP ELMOD3 ENST00000315658 human ensembl 74_37 +1 known silent c.624 p.T208 0.908 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC ENSG00000115459 51 0 0 53 6 10.1695 KDM3A 0 genome.wustl.edu 37 2 86712114 86712114 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 86712114 86712114 G A SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known nonsense c.3144 p.W1048* 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 37 0 0 36 3 7.69231 ACTR1B 0 genome.wustl.edu 37 2 98274469 98274469 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 98274469 98274469 T C SNP ACTR1B ENST00000289228 human ensembl 74_37 -1 known missense c.862 p.M288V 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1B HGNC ENSG00000115073 131 0 0 90 5 5.26316 SNORD17 0 genome.wustl.edu 37 20 17943488 17943488 + RNA SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 17943488 17943488 T G SNP SNORD17 ENST00000390930 human ensembl 74_37 -1 known rna NULL NULL 0.073 - - - no_errors SNORD17 HGNC ENSG00000212232 83 0 0 67 15 18.2927 ZNF337 0 genome.wustl.edu 37 20 25656021 25656021 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 25656021 25656021 G A SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known nonsense c.1903 p.R635* 0.495 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 ZNF337 HGNC ENSG00000130684 137 0 0 102 11 9.73451 ZNF337 0 genome.wustl.edu 37 20 25657112 25657112 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 25657112 25657112 C T SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known missense c.812 p.R271Q 0.405 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 ZNF337 HGNC ENSG00000130684 214 0 0 194 52 21.1382 IDH3B 0 genome.wustl.edu 37 20 2639205 2639205 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 2639205 2639205 G A SNP IDH3B ENST00000477689 human ensembl 74_37 -1 known rna NULL NULL 0.066 - - - no_errors IDH3B HGNC ENSG00000101365 31 0 0 30 2 6.25 E2F1 0 genome.wustl.edu 37 20 32264963 32264963 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 32264963 32264963 G T SNP E2F1 ENST00000343380 human ensembl 74_37 -1 known silent c.1014 p.P338 0.035 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 78 0 0 63 11 14.8649 RALY 0 genome.wustl.edu 37 20 32664892 32664892 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 32664892 32664892 C A SNP RALY ENST00000246194 human ensembl 74_37 +1 known missense c.717 p.S239R 0.008 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 30 0 0 20 6 23.0769 SIGLEC1 0 genome.wustl.edu 37 20 3683917 3683917 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 3683917 3683917 A G SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known silent c.1155 p.T385 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 SIGLEC1 HGNC ENSG00000088827 82 0 0 57 14 19.7183 PPP1R16B 0 genome.wustl.edu 37 20 37464809 37464809 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 37464809 37464809 G A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.241 p.A81T 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 53 0 0 40 7 14.8936 PTPRT 0 genome.wustl.edu 37 20 40743943 40743943 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 40743943 40743943 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known nonsense c.3052 p.R1018* 0.252 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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 105 0 0 61 13 17.5676 PTPRT 0 genome.wustl.edu 37 20 40864897 40864897 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 40864897 40864897 T G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.2371 p.R791 1.000 NULL 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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 99 0 0 85 16 15.8416 PTPRT 0 genome.wustl.edu 37 20 40980816 40980816 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 40980816 40980816 T C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1670 p.Y557C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 133 0 0 91 22 19.469 NEURL2 0 genome.wustl.edu 37 20 44519036 44519036 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 44519036 44519036 C T SNP NEURL2 ENST00000372518 human ensembl 74_37 -1 known missense c.595 p.D199N 0.919 pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 80 0 0 60 14 18.9189 ZNF334 0 genome.wustl.edu 37 20 45131154 45131154 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 45131154 45131154 C T SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.824 p.R275H 0.001 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 ZNF334 HGNC ENSG00000198185 151 0 0 119 16 11.8519 NCOA3 0 genome.wustl.edu 37 20 46267789 46267789 + Silent SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 46267789 46267789 T A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.2550 p.P850 0.728 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 110 0 0 98 7 6.66667 ARFGEF2 0 genome.wustl.edu 37 20 47591403 47591403 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 47591403 47591403 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1766 p.T589I 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 33 0 0 23 4 14.8148 ZNFX1 0 genome.wustl.edu 37 20 47855699 47855699 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 47855699 47855699 G A SNP ZNFX1 ENST00000371754 human ensembl 74_37 -1 known missense c.3565 p.P1189S 0.001 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors ZNFX1 HGNC ENSG00000124201 23 0 0 19 5 20.8333 MOCS3 0 genome.wustl.edu 37 20 49575694 49575694 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 49575694 49575694 C T SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known silent c.315 p.G105 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 116 0 0 113 22 16.2963 ATP9A 0 genome.wustl.edu 37 20 50273605 50273605 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 50273605 50273605 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.1378 p.V460M 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp 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 ATP9A HGNC ENSG00000054793 66 0 0 51 7 12.069 TSHZ2 0 genome.wustl.edu 37 20 51873029 51873029 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 51873029 51873029 T G SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.3032 p.L1011R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 137 0 0 129 28 17.8344 RTFDC1 0 genome.wustl.edu 37 20 55059247 55059247 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 55059247 55059247 T C SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known splice_site c.567+2 e6+2 1.000 - - - no_errors RTFDC1 HGNC ENSG00000022277 133 0 0 149 31 17.2222 PMEPA1 0 genome.wustl.edu 37 20 56234599 56234599 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 56234599 56234599 T C SNP PMEPA1 ENST00000341744 human ensembl 74_37 -1 known silent c.264 p.S88 1.000 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 30 0 0 24 8 25 CDH26 0 genome.wustl.edu 37 20 58562650 58562650 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 58562650 58562650 C T SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.980 p.S327L 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 83 0 0 78 5 6.0241 CDH26 0 genome.wustl.edu 37 20 58562651 58562651 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 58562651 58562651 G A SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known silent c.981 p.S327 0.030 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 83 0 0 70 14 16.6667 CDH4 0 genome.wustl.edu 37 20 60448911 60448911 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 60448911 60448911 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.1005 p.S335 0.777 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 189 0 0 162 25 13.369 LAMA5 0 genome.wustl.edu 37 20 60884293 60884293 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 60884293 60884293 C T SNP LAMA5 ENST00000492698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LAMA5 HGNC ENSG00000130702 12 0 0 6 2 25 LAMA5 0 genome.wustl.edu 37 20 60893940 60893940 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 60893940 60893940 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.7001 p.P2334L 0.040 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 25 0 0 23 3 11.5385 DIDO1 0 genome.wustl.edu 37 20 61512757 61512757 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 61512757 61512757 C A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.4551 p.S1517 0.001 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 163 1 0.609756 159 26 14.0541 YTHDF1 0 genome.wustl.edu 37 20 61834968 61834968 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 61834968 61834968 A G SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known silent c.324 p.P108 0.982 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 129 1 0.769231 122 27 18.1208 SLC2A4RG 0 genome.wustl.edu 37 20 62373369 62373369 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 62373369 62373369 C T SNP SLC2A4RG ENST00000266077 human ensembl 74_37 +1 known missense c.539 p.A180V 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SLC2A4RG HGNC ENSG00000125520 59 0 0 69 4 5.47945 ZBTB46 0 genome.wustl.edu 37 20 62384092 62384092 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 62384092 62384092 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.1345 p.E449K 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 38 0 0 44 3 6.38298 ABHD16B 0 genome.wustl.edu 37 20 62493849 62493849 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 62493849 62493849 G A SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known missense c.956 p.R319H 0.998 NULL pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 10 0 0 12 5 29.4118 ZNF512B 0 genome.wustl.edu 37 20 62595228 62595228 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 62595228 62595228 G A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.1519 p.R507C 0.954 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 134 0 0 129 18 12.2449 BMP2 0 genome.wustl.edu 37 20 6759223 6759223 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 6759223 6759223 C T SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known silent c.678 p.F226 0.970 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 45 0 0 26 7 21.2121 LIPI 0 genome.wustl.edu 37 21 15579144 15579144 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 15579144 15579144 A G SNP LIPI ENST00000344577 human ensembl 74_37 -1 known missense c.101 p.L34P 0.001 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 38 0 0 36 8 18.1818 CHODL 0 genome.wustl.edu 37 21 19628904 19628904 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 19628904 19628904 G T SNP CHODL ENST00000299295 human ensembl 74_37 +1 known missense c.158 p.S53I 1.000 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 CHODL HGNC ENSG00000154645 69 0 0 70 16 18.6047 TIAM1 0 genome.wustl.edu 37 21 32492823 32492823 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 32492823 32492823 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.4639 p.A1547T 0.995 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 106 0 0 83 13 13.5417 TIAM1 0 genome.wustl.edu 37 21 32590005 32590005 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 32590005 32590005 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.2006 p.R669H 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 102 0 0 85 7 7.6087 OLIG2 0 genome.wustl.edu 37 21 34399407 34399407 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 34399407 34399407 G A SNP OLIG2 ENST00000333337 human ensembl 74_37 +1 known silent c.237 p.S79 0.696 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG2 HGNC ENSG00000205927 26 0 0 20 4 16.6667 PRDM15 0 genome.wustl.edu 37 21 43274836 43274836 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 43274836 43274836 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.1475 p.A492V 0.066 pfscan_SET_dom pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 72 0 0 54 11 16.9231 RSPH1 0 genome.wustl.edu 37 21 43906550 43906550 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 43906550 43906550 C T SNP RSPH1 ENST00000291536 human ensembl 74_37 -1 known missense c.296 p.R99Q 0.987 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 147 0 0 143 23 13.8554 TRAPPC10 0 genome.wustl.edu 37 21 45494326 45494326 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 45494326 45494326 G T SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.1160 p.G387V 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 87 0 0 74 17 18.6813 ITGB2 0 genome.wustl.edu 37 21 46320303 46320303 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 46320303 46320303 C T SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.829 p.A277T 0.996 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 92 0 0 66 12 15.3846 PCNT 0 genome.wustl.edu 37 21 47832899 47832899 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 47832899 47832899 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.6143 p.G2048D 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 69 0 0 53 12 18.4615 DGCR5 0 genome.wustl.edu 37 22 18979498 18979498 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 18979498 18979498 G A SNP DGCR5 ENST00000438934 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors DGCR5 HGNC ENSG00000237517 37 0 0 33 4 10.8108 ARVCF 0 genome.wustl.edu 37 22 19967605 19967605 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 19967605 19967605 G A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1057 p.P353S 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 18 0 0 11 3 21.4286 DGCR8 0 genome.wustl.edu 37 22 20073609 20073609 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 20073609 20073609 A G SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known silent c.123 p.Q41 1.000 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 95 0 0 69 10 12.6582 MED15 0 genome.wustl.edu 37 22 20918760 20918760 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 20918760 20918760 G T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.475 p.A159S 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 78 0 0 48 10 17.2414 AIFM3 0 genome.wustl.edu 37 22 21329105 21329105 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 21329105 21329105 G T SNP AIFM3 ENST00000399167 human ensembl 74_37 +1 known missense c.720 p.K240N 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 67 0 0 66 11 14.2857 BMS1P20 0 genome.wustl.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 22664115 22664115 A T SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors BMS1P20 HGNC ENSG00000236850 94 0 0 73 5 6.41026 ZNF280A 0 genome.wustl.edu 37 22 22869532 22869532 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 22869532 22869532 G A SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known silent c.423 p.L141 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 99 0 0 89 24 21.2389 LRP5L 0 genome.wustl.edu 37 22 25756037 25756037 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 25756037 25756037 G A SNP LRP5L ENST00000402785 human ensembl 74_37 -1 known missense c.23 p.T8M 1.000 pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 55 0 0 31 10 24.3902 MYO18B 0 genome.wustl.edu 37 22 26423135 26423135 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 26423135 26423135 C A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7195 p.L2399I 0.801 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 114 0 0 81 18 18.1818 CRYBB1 0 genome.wustl.edu 37 22 27012154 27012154 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 27012154 27012154 C T SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.130 p.V44M 0.001 NULL pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 90 0 0 98 16 14.0351 CCDC157 0 genome.wustl.edu 37 22 30762081 30762081 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 30762081 30762081 G A SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known missense c.92 p.R31H 0.539 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 98 0 0 82 18 18 OSBP2 0 genome.wustl.edu 37 22 31302253 31302253 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 31302253 31302253 C T SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known missense c.2678 p.A893V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 124 0 0 114 18 13.6364 SMTN 0 genome.wustl.edu 37 22 31495154 31495154 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 31495154 31495154 C T SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.2440 p.R814C 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 42 0 0 31 3 8.82353 RFPL2 0 genome.wustl.edu 37 22 32587176 32587176 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 32587176 32587176 G A SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known silent c.720 p.R240 0.724 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 150 0 0 126 27 17.6471 HMOX1 0 genome.wustl.edu 37 22 35783002 35783002 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 35783002 35783002 C T SNP HMOX1 ENST00000216117 human ensembl 74_37 +1 known silent c.469 p.L157 1.000 pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 89 0 0 78 6 7.14286 LGALS2 0 genome.wustl.edu 37 22 37966699 37966699 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 37966699 37966699 G A SNP LGALS2 ENST00000215886 human ensembl 74_37 -1 known missense c.133 p.H45Y 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS2 HGNC ENSG00000100079 157 1 0.632911 117 34 22.5166 PDXP 0 genome.wustl.edu 37 22 38055298 38055298 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 38055298 38055298 A C SNP PDXP ENST00000215904 human ensembl 74_37 +1 known missense c.509 p.E170A 0.014 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA - no_errors PDXP HGNC ENSG00000241360 48 0 0 44 7 13.7255 TMEM184B 0 genome.wustl.edu 37 22 38620838 38620838 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 38620838 38620838 G A SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known silent c.936 p.H312 0.826 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 88 0 0 72 9 11.1111 SGSM3 0 genome.wustl.edu 37 22 40801671 40801671 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 40801671 40801671 C T SNP SGSM3 ENST00000248929 human ensembl 74_37 +1 known silent c.637 p.L213 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 316 0 0 265 57 17.7019 EP300 0 genome.wustl.edu 37 22 41533773 41533773 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 41533773 41533773 G A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.1739 p.R580Q 1.000 pfam_KIX_dom,superfamily_KIX_dom,pfscan_KIX_dom pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 81 0 0 65 12 15.5844 EP300 0 genome.wustl.edu 37 22 41545050 41545050 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 41545050 41545050 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known silent c.2250 p.G750 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 104 0 0 62 25 28.7356 SCUBE1 0 genome.wustl.edu 37 22 43735227 43735227 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 43735227 43735227 C T SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.103 p.D35N 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 90 0 0 55 14 20.2899 EFCAB6 0 genome.wustl.edu 37 22 43926830 43926830 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 43926830 43926830 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.4248 p.A1416 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 80 0 0 70 5 6.66667 SAMM50 0 genome.wustl.edu 37 22 44392209 44392209 + RNA SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 44392209 44392209 T C SNP SAMM50 ENST00000493621 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 660 0 0 529 132 19.9697 IMPG2 0 genome.wustl.edu 37 3 100986374 100986374 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 100986374 100986374 A G SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.889 p.S297P 0.917 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 65 0 0 73 11 13.0952 DPPA2 0 genome.wustl.edu 37 3 109027089 109027089 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 109027089 109027089 G A SNP DPPA2 ENST00000478945 human ensembl 74_37 -1 known missense c.448 p.R150C 0.000 NULL pfscan_SAP_dom - no_errors DPPA2 HGNC ENSG00000163530 86 0 0 70 14 16.6667 DRD3 0 genome.wustl.edu 37 3 113850211 113850211 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 113850211 113850211 G A SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.760 p.R254C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 141 0 0 109 20 15.5039 NR1I2 0 genome.wustl.edu 37 3 119534274 119534274 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 119534274 119534274 C A SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.1159 p.L387I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt 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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 120 0 0 90 19 17.4312 PARP9 0 genome.wustl.edu 37 3 122274498 122274498 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 122274498 122274498 A G SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known missense c.625 p.C209R 0.003 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 36 0 0 49 7 12.5 PPARG 0 genome.wustl.edu 37 3 12458573 12458573 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 12458573 12458573 A G SNP PPARG ENST00000287820 human ensembl 74_37 +1 known missense c.1190 p.E397G 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 60 0 0 42 13 23.6364 MCM2 0 genome.wustl.edu 37 3 127335932 127335932 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 127335932 127335932 G T SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known nonsense c.1744 p.G582* 1.000 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 182 0 0 138 36 20.6897 ALG1L2 0 genome.wustl.edu 37 3 129810159 129810159 + RNA SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 129810159 129810159 C A SNP ALG1L2 ENST00000503500 human ensembl 74_37 +1 known rna NULL NULL 0.938 - - - no_errors ALG1L2 HGNC ENSG00000251287 59 0 0 39 9 18.75 COL6A6 0 genome.wustl.edu 37 3 130287372 130287372 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 130287372 130287372 T C SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.2325 p.V775 0.939 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 109 0 0 97 26 21.1382 ACAD11 0 genome.wustl.edu 37 3 132322160 132322160 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 132322160 132322160 C A SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known missense c.1534 p.A512S 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 101 0 0 81 14 14.7368 DZIP1L 0 genome.wustl.edu 37 3 137790602 137790602 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 137790602 137790602 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.1498 p.R500W 0.001 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 78 0 0 69 15 17.8571 ZIC4 0 genome.wustl.edu 37 3 147114073 147114073 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 147114073 147114073 C A SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.404 p.R135L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 32 0 0 22 6 21.4286 NR2C2 0 genome.wustl.edu 37 3 15045441 15045441 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 15045441 15045441 G A SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.20 p.R7H 1.000 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,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 60 0 0 44 8 15.3846 P2RY14 0 genome.wustl.edu 37 3 150931269 150931269 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 150931269 150931269 A G SNP P2RY14 ENST00000309170 human ensembl 74_37 -1 known missense c.836 p.F279S 1.000 pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY14 HGNC ENSG00000174944 118 0 0 86 22 20.3704 MBNL1 0 genome.wustl.edu 37 3 152165478 152165478 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 152165478 152165478 G A SNP MBNL1 ENST00000282486 human ensembl 74_37 +1 known missense c.931 p.A311T 1.000 NULL smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 112 0 0 119 19 13.7681 DHX36 0 genome.wustl.edu 37 3 154006670 154006670 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 154006670 154006670 T C SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known silent c.2016 p.R672 0.988 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 37 0 0 22 3 12 ANKRD28 0 genome.wustl.edu 37 3 15755084 15755084 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 15755084 15755084 G A SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known silent c.1149 p.G383 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 229 0 0 164 27 14.1361 BCHE 0 genome.wustl.edu 37 3 165548072 165548072 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 165548072 165548072 C T SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.750 p.L250 0.970 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 128 0 0 134 13 8.84354 PIK3CA 0 genome.wustl.edu 37 3 178928348 178928348 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 178928348 178928348 G T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known nonsense c.1534 p.G512* 1.000 superfamily_ARM-type_fold pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 80 0 0 62 4 6.06061 GNB4 0 genome.wustl.edu 37 3 179131207 179131207 + Missense_Mutation SNP G G C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 179131207 179131207 G C SNP GNB4 ENST00000232564 human ensembl 74_37 -1 known missense c.692 p.A231G 1.000 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB4 HGNC ENSG00000114450 58 0 0 37 8 17.7778 YEATS2 0 genome.wustl.edu 37 3 183521825 183521825 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 183521825 183521825 G A SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known silent c.3633 p.K1211 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 101 0 0 87 20 18.6916 HTR3C 0 genome.wustl.edu 37 3 183778041 183778041 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 183778041 183778041 G T SNP HTR3C ENST00000318351 human ensembl 74_37 +1 known missense c.1245 p.W415C 0.989 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC ENSG00000178084 177 0 0 158 13 7.60234 CLCN2 0 genome.wustl.edu 37 3 184064539 184064539 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 184064539 184064539 C T SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.2552 p.R851Q 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 67 0 0 66 10 13.1579 EPHB3 0 genome.wustl.edu 37 3 184290449 184290449 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 184290449 184290449 G A SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.341 p.R114H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 EPHB3 HGNC ENSG00000182580 48 0 0 34 4 10.5263 LEPREL1 0 genome.wustl.edu 37 3 189689785 189689785 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 189689785 189689785 T C SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.1711 p.R571G 0.916 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 44 0 0 29 4 12.1212 MUC4 0 genome.wustl.edu 37 3 195505772 195505772 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 195505772 195505772 C G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12679 p.V4227L 0.879 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 29 0 0 11 3 21.4286 MUC4 0 genome.wustl.edu 37 3 195506005 195506005 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 195506005 195506005 A C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12446 p.I4149S 0.000 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 8 0 0 2 2 50 MUC4 0 genome.wustl.edu 37 3 195515860 195515860 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 195515860 195515860 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.2591 p.A864V 0.000 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 56 0 0 37 7 15.9091 PCYT1A 0 genome.wustl.edu 37 3 195974240 195974240 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 195974240 195974240 G A SNP PCYT1A ENST00000292823 human ensembl 74_37 -1 known missense c.484 p.R162W 1.000 pfam_Cyt_trans-like pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 182 0 0 159 38 19.2893 LRCH3 0 genome.wustl.edu 37 3 197593070 197593070 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 197593070 197593070 T G SNP LRCH3 ENST00000438796 human ensembl 74_37 +1 known missense c.1853 p.V618G 0.219 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 106 0 0 77 16 17.2043 VILL 0 genome.wustl.edu 37 3 38035838 38035838 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 38035838 38035838 C T SNP VILL ENST00000283713 human ensembl 74_37 +1 known silent c.222 p.G74 0.008 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 44 0 0 33 3 8.33333 PLCD1 0 genome.wustl.edu 37 3 38052911 38052911 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 38052911 38052911 G T SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known missense c.647 p.S216Y 1.000 smart_EF_hand_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 59 0 0 39 16 29.0909 XYLB 0 genome.wustl.edu 37 3 38404473 38404473 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 38404473 38404473 T A SNP XYLB ENST00000207870 human ensembl 74_37 +1 known missense c.256 p.F86I 0.998 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ENSG00000093217 120 0 0 94 22 18.9655 TTC21A 0 genome.wustl.edu 37 3 39174572 39174572 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 39174572 39174572 G A SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known silent c.2616 p.K872 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 73 0 0 59 13 18.0556 TRAK1 0 genome.wustl.edu 37 3 42264629 42264629 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 42264629 42264629 C T SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known silent c.2088 p.Y696 0.596 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 49 0 0 32 9 21.9512 ZBTB47 0 genome.wustl.edu 37 3 42701286 42701286 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 42701286 42701286 T A SNP ZBTB47 ENST00000232974 human ensembl 74_37 +1 known missense c.1439 p.L480Q 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 39 0 0 23 5 17.8571 CCDC13 0 genome.wustl.edu 37 3 42777197 42777197 + Splice_Site SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 42777197 42777197 A G SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known splice_site c.1371+2 e9+2 1.000 - - - no_errors CCDC13 HGNC ENSG00000244607 160 0 0 131 32 19.6319 ZKSCAN7 0 genome.wustl.edu 37 3 44598765 44598765 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 44598765 44598765 C T SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.226 p.R76W 0.994 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 89 0 0 50 16 24.2424 KIF15 0 genome.wustl.edu 37 3 44816853 44816853 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 44816853 44816853 C T SNP KIF15 ENST00000438321 human ensembl 74_37 +1 known nonsense c.127 p.R43* 0.191 NULL NULL - no_errors KIF15 HGNC ENSG00000163808 88 0 0 60 18 23.0769 FYCO1 0 genome.wustl.edu 37 3 46008021 46008021 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 46008021 46008021 G A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known silent c.2805 p.D935 0.000 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 88 0 0 56 16 22.2222 ITPR1 0 genome.wustl.edu 37 3 4709083 4709083 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 4709083 4709083 G T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.1691 p.G564V 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 26 0 0 17 4 19.0476 PTPN23 0 genome.wustl.edu 37 3 47453286 47453286 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 47453286 47453286 G A SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.3902 p.R1301H 0.995 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 125 0 0 104 8 7.14286 USP4 0 genome.wustl.edu 37 3 49321537 49321537 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 49321537 49321537 G A SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.2423 p.A808V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 136 0 0 92 18 16.3636 BSN 0 genome.wustl.edu 37 3 49689135 49689135 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 49689135 49689135 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.2146 p.P716S 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 105 0 0 73 20 21.5054 UBA7 0 genome.wustl.edu 37 3 49850959 49850959 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 49850959 49850959 T C SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.178 p.T60A 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 120 0 0 82 17 17.1717 CAMKV 0 genome.wustl.edu 37 3 49898646 49898646 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 49898646 49898646 T C SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.529 p.I177V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKV HGNC ENSG00000164076 65 0 0 57 4 6.55738 RBM6 0 genome.wustl.edu 37 3 50005642 50005642 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 50005642 50005642 C T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known nonsense c.784 p.R262* 0.993 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 100 0 0 66 21 24.1379 DOCK3 0 genome.wustl.edu 37 3 51418626 51418626 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 51418626 51418626 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.5729 p.R1910H 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 71 0 0 57 11 16.1765 TEX264 0 genome.wustl.edu 37 3 51708379 51708379 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 51708379 51708379 C T SNP TEX264 ENST00000341333 human ensembl 74_37 +1 known missense c.59 p.T20M 0.999 NULL superfamily_Reg_factor_effector_dom - no_errors TEX264 HGNC ENSG00000164081 123 0 0 103 20 16.2602 GRM2 0 genome.wustl.edu 37 3 51746637 51746637 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 51746637 51746637 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.599 p.R200H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 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 138 0 0 104 23 18.1102 GRM2 0 genome.wustl.edu 37 3 51746765 51746765 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 51746765 51746765 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.727 p.R243C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3 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 57 0 0 33 10 23.2558 SLMAP 0 genome.wustl.edu 37 3 57913112 57913112 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 57913112 57913112 A G SNP SLMAP ENST00000428312 human ensembl 74_37 +1 known silent c.2484 p.P828 0.998 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 21 0 0 21 6 22.2222 FRMD4B 0 genome.wustl.edu 37 3 69246143 69246143 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 69246143 69246143 G A SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known nonsense c.1000 p.Q334* 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 53 0 0 39 10 20.4082 LMCD1 0 genome.wustl.edu 37 3 8590329 8590329 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 8590329 8590329 C T SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.463 p.R155C 0.966 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 179 0 0 126 8 5.97015 MTHFD2P1 0 genome.wustl.edu 37 3 95373869 95373869 + RNA SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 95373869 95373869 A G SNP MTHFD2P1 ENST00000494840 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors MTHFD2P1 HGNC ENSG00000244681 17 0 0 13 4 23.5294 BRPF1 0 genome.wustl.edu 37 3 9776020 9776020 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 9776020 9776020 C T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.196 p.R66C 1.000 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,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 200 0 0 136 28 17.0732 BRPF1 0 genome.wustl.edu 37 3 9776143 9776143 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 9776143 9776143 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.319 p.V107I 0.999 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 126 1 0.787402 95 17 15.1786 SLC9B1 0 genome.wustl.edu 37 4 103866441 103866441 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 103866441 103866441 C T SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known missense c.562 p.A188T 0.047 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 170 0 0 135 19 12.3377 CXXC4 0 genome.wustl.edu 37 4 105412467 105412467 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 105412467 105412467 C T SNP CXXC4 ENST00000394767 human ensembl 74_37 -1 known missense c.493 p.G165S 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC4 HGNC ENSG00000168772 104 0 0 57 16 21.9178 NPNT 0 genome.wustl.edu 37 4 106888380 106888380 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 106888380 106888380 C T SNP NPNT ENST00000379987 human ensembl 74_37 +1 known missense c.1381 p.P461S 0.977 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 59 0 0 50 12 19.3548 ALPK1 0 genome.wustl.edu 37 4 113346862 113346862 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 113346862 113346862 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known nonsense c.577 p.Q193* 1.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 181 0 0 148 14 8.64198 LARP7 0 genome.wustl.edu 37 4 113567814 113567814 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 113567814 113567814 G A SNP LARP7 ENST00000324052 human ensembl 74_37 +1 known missense c.374 p.R125H 0.995 pfscan_RRM_dom,prints_Lupus_La pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 20 0 0 23 3 11.5385 NDST3 0 genome.wustl.edu 37 4 119163293 119163293 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 119163293 119163293 A C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known silent c.2388 p.S796 0.858 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 97 0 0 93 16 14.6789 CTBP1 0 genome.wustl.edu 37 4 1207290 1207290 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 1207290 1207290 G A SNP CTBP1 ENST00000290921 human ensembl 74_37 -1 known missense c.997 p.R333W 0.975 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors CTBP1 HGNC ENSG00000159692 119 0 0 94 18 16.0714 TNIP3 0 genome.wustl.edu 37 4 122062982 122062982 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 122062982 122062982 G A SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.874 p.R292W 0.001 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 65 0 0 52 13 20 KIAA1109 0 genome.wustl.edu 37 4 123107276 123107276 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 123107276 123107276 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known silent c.444 p.L148 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 93 0 0 62 14 18.4211 KIAA1109 0 genome.wustl.edu 37 4 123275094 123275094 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 123275094 123275094 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.14227 p.R4743C 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 46 0 0 34 10 22.7273 SPATA5 0 genome.wustl.edu 37 4 123868515 123868515 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 123868515 123868515 G A SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.1586 p.R529Q 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 102 0 0 82 22 21.1538 PCDH18 0 genome.wustl.edu 37 4 138451730 138451730 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 138451730 138451730 A G SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.1513 p.L505 0.004 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 PCDH18 HGNC ENSG00000189184 173 0 0 119 24 16.7832 POU4F2 0 genome.wustl.edu 37 4 147561442 147561442 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 147561442 147561442 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.712 p.A238T 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 26 0 0 20 3 13.0435 CPEB2 0 genome.wustl.edu 37 4 15063798 15063798 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 15063798 15063798 C T SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known nonsense c.2791 p.R931* 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 160 0 0 154 27 14.9171 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 176 0 0 164 24 12.766 TLR2 0 genome.wustl.edu 37 4 154625775 154625775 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 154625775 154625775 C A SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known silent c.1716 p.G572 0.999 pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 153 0 0 102 27 20.9302 PLRG1 0 genome.wustl.edu 37 4 155458569 155458569 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 155458569 155458569 C T SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.1354 p.A452T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,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 PLRG1 HGNC ENSG00000171566 94 0 0 69 20 22.4719 PLRG1 0 genome.wustl.edu 37 4 155459192 155459192 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 155459192 155459192 T A SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.1220 p.Q407L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 65 0 0 54 9 14.2857 GRIA2 0 genome.wustl.edu 37 4 158281228 158281228 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 158281228 158281228 A G SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2224 p.M742V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 104 0 0 70 12 14.6341 TLL1 0 genome.wustl.edu 37 4 166964495 166964495 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 166964495 166964495 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1448 p.R483H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 143 0 0 117 21 15.2174 CLCN3 0 genome.wustl.edu 37 4 170634343 170634343 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 170634343 170634343 C A SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known missense c.2263 p.L755I 1.000 pfam_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 98 0 0 69 19 21.5909 QDPR 0 genome.wustl.edu 37 4 17493907 17493907 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 17493907 17493907 C T SNP QDPR ENST00000281243 human ensembl 74_37 -1 known missense c.493 p.A165T 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR - no_errors QDPR HGNC ENSG00000151552 61 0 0 41 12 22.6415 IRF2 0 genome.wustl.edu 37 4 185339800 185339800 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 185339800 185339800 C T SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.250 p.A84T 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 58 0 0 54 3 5.26316 HELT 0 genome.wustl.edu 37 4 185941701 185941701 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 185941701 185941701 G A SNP HELT ENST00000338875 human ensembl 74_37 +1 known silent c.759 p.P253 0.992 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 33 0 0 29 4 12.1212 HELT 0 genome.wustl.edu 37 4 185941780 185941780 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 185941780 185941780 C T SNP HELT ENST00000338875 human ensembl 74_37 +1 known missense c.838 p.P280S 0.002 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 37 0 0 20 7 25.9259 ZFYVE28 0 genome.wustl.edu 37 4 2306637 2306637 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 2306637 2306637 C A SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.1430 p.S477I 0.002 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 87 0 0 85 14 14.1414 KLB 0 genome.wustl.edu 37 4 39409172 39409172 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 39409172 39409172 A G SNP KLB ENST00000257408 human ensembl 74_37 +1 known silent c.603 p.A201 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 95 0 0 83 12 12.6316 RPL9 0 genome.wustl.edu 37 4 39458044 39458044 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 39458044 39458044 T C SNP RPL9 ENST00000295955 human ensembl 74_37 -1 known missense c.373 p.R125G 0.989 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 - no_errors RPL9 HGNC ENSG00000163682 54 0 0 44 13 22.807 LOC401127 0 genome.wustl.edu 37 4 39482707 39482707 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 39482707 39482707 C T SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 87 0 0 62 13 17.3333 ENSG00000221301 0 genome.wustl.edu 37 4 4086072 4086072 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 4086072 4086072 G A SNP ENSG00000221301 ENST00000408374 human ensembl 74_37 +1 novel rna NULL NULL 0.032 - - - no_errors AC116562.1 Clone_based_ensembl_gene ENSG00000221301 85 0 0 72 12 14.2857 KCTD8 0 genome.wustl.edu 37 4 44450159 44450159 + Nonsense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 44450159 44450159 C A SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known nonsense c.382 p.E128* 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 43 0 0 22 6 21.4286 GUF1 0 genome.wustl.edu 37 4 44683221 44683221 + Splice_Site SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 44683221 44683221 G A SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known splice_site c.507+1 e4+1 1.000 - - - no_errors GUF1 HGNC ENSG00000151806 246 0 0 199 25 11.1607 CORIN 0 genome.wustl.edu 37 4 47682178 47682178 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 47682178 47682178 T G SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.1112 p.K371T 1.000 pirsf_Peptidase_S1A_corin,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 45 0 0 44 6 12 UBA6 0 genome.wustl.edu 37 4 68536191 68536191 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 68536191 68536191 C T SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known silent c.666 p.T222 0.996 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 45 0 0 42 7 14.2857 AFAP1 0 genome.wustl.edu 37 4 7802207 7802207 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 7802207 7802207 G A SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1228 p.R410W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 60 0 0 37 6 13.9535 FRAS1 0 genome.wustl.edu 37 4 79400796 79400796 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 79400796 79400796 G T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.8367 p.K2789N 0.989 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 66 0 0 54 6 10 FRAS1 0 genome.wustl.edu 37 4 79443907 79443907 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 79443907 79443907 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.10753 p.A3585T 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 34 0 0 35 3 7.89474 ACOX3 0 genome.wustl.edu 37 4 8398700 8398700 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 8398700 8398700 C A SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.1020 p.E340D 0.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 117 0 0 91 19 17.2727 FAM175A 0 genome.wustl.edu 37 4 84391425 84391425 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 84391425 84391425 G A SNP FAM175A ENST00000321945 human ensembl 74_37 -1 known missense c.407 p.T136I 1.000 prints_FAM175_BRISC_cplx_Abro1_su prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su - no_errors FAM175A HGNC ENSG00000163322 159 0 0 135 35 20.5882 PTPN13 0 genome.wustl.edu 37 4 87622727 87622727 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 87622727 87622727 G A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.968 p.R323H 0.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 110 0 0 81 18 18.1818 GPRIN3 0 genome.wustl.edu 37 4 90170138 90170138 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 90170138 90170138 C T SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.1124 p.S375N 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 100 0 0 99 7 6.60377 CTNND2 0 genome.wustl.edu 37 5 11364852 11364852 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 11364852 11364852 T C SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1328 p.D443G 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 56 0 0 61 6 8.95522 SLC22A4 0 genome.wustl.edu 37 5 131671563 131671563 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 131671563 131671563 C A SNP SLC22A4 ENST00000200652 human ensembl 74_37 +1 known silent c.1314 p.T438 0.940 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 237 0 0 183 39 17.5676 IRF1 0 genome.wustl.edu 37 5 131819656 131819656 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 131819656 131819656 G T SNP IRF1 ENST00000245414 human ensembl 74_37 -1 known missense c.965 p.P322H 1.000 NULL pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 63 0 0 61 8 11.5942 NEUROG1 0 genome.wustl.edu 37 5 134871159 134871159 + Silent SNP G G C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 134871159 134871159 G C SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known silent c.222 p.R74 0.542 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 18 0 0 12 5 29.4118 DNAH5 0 genome.wustl.edu 37 5 13817727 13817727 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 13817727 13817727 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.6918 p.D2306 0.981 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 94 0 0 85 30 26.087 CXXC5 0 genome.wustl.edu 37 5 139062576 139062576 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 139062576 139062576 G A SNP CXXC5 ENST00000515038 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CXXC5 HGNC ENSG00000171604 25 0 0 19 2 9.52381 DNAH5 0 genome.wustl.edu 37 5 13923470 13923470 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 13923470 13923470 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.357 p.N119 0.993 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 DNAH5 HGNC ENSG00000039139 198 0 0 181 36 16.5899 PURA 0 genome.wustl.edu 37 5 139494404 139494404 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 139494404 139494404 A C SNP PURA ENST00000331327 human ensembl 74_37 +1 known missense c.638 p.E213A 1.000 pfam_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC ENSG00000185129 48 0 0 41 17 29.3103 SLC35A4 0 genome.wustl.edu 37 5 139946971 139946971 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 139946971 139946971 T C SNP SLC35A4 ENST00000323146 human ensembl 74_37 +1 known missense c.217 p.W73R 0.871 pfam_DMT,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 90 0 0 59 14 19.1781 PCDHA4 0 genome.wustl.edu 37 5 140188299 140188299 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140188299 140188299 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1527 p.S509 0.733 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 179 0 0 139 31 18.2353 PCDHA6 0 genome.wustl.edu 37 5 140209639 140209639 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140209639 140209639 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1963 p.G655S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 108 0 0 73 14 16.092 PCDHA13 0 genome.wustl.edu 37 5 140263299 140263299 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140263299 140263299 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1446 p.A482 0.822 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 169 0 0 129 19 12.8378 PCDHA13 0 genome.wustl.edu 37 5 140263504 140263504 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140263504 140263504 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1651 p.L551 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 205 0 0 173 26 13.0653 PCDHA13 0 genome.wustl.edu 37 5 140263536 140263536 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140263536 140263536 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1683 p.N561 0.802 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 172 0 0 164 28 14.5833 PCDHAC2 0 genome.wustl.edu 37 5 140346519 140346519 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140346519 140346519 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.168 p.A56 0.042 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 26 0 0 11 5 31.25 PCDHB2 0 genome.wustl.edu 37 5 140475355 140475355 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140475355 140475355 G T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.981 p.G327 0.664 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 89 0 0 76 11 12.6437 PCDHB12 0 genome.wustl.edu 37 5 140590109 140590109 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140590109 140590109 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1630 p.E544K 0.987 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 128 0 0 88 19 17.757 PCDHGB1 0 genome.wustl.edu 37 5 140731683 140731683 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140731683 140731683 C T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1856 p.T619M 0.892 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 PCDHGB1 HGNC ENSG00000254221 49 0 0 27 9 25 PCDHGA6 0 genome.wustl.edu 37 5 140754749 140754749 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140754749 140754749 G A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1099 p.A367T 0.311 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 155 0 0 131 9 6.42857 DIAPH1 0 genome.wustl.edu 37 5 140903716 140903716 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140903716 140903716 G A SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.3658 p.R1220C 0.996 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 104 0 0 108 13 10.7438 GNPDA1 0 genome.wustl.edu 37 5 141385765 141385765 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 141385765 141385765 C T SNP GNPDA1 ENST00000311337 human ensembl 74_37 -1 known missense c.353 p.C118Y 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA1 HGNC ENSG00000113552 144 0 0 111 32 22.3776 NDST1 0 genome.wustl.edu 37 5 149915269 149915269 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 149915269 149915269 G A SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.1259 p.G420D 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 65 0 0 72 5 6.49351 TNIP1 0 genome.wustl.edu 37 5 150411891 150411891 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 150411891 150411891 G T SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known missense c.1833 p.S611R 0.934 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 51 0 0 41 4 8.88889 G3BP1 0 genome.wustl.edu 37 5 151170610 151170610 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 151170610 151170610 T C SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known missense c.338 p.V113A 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 232 0 0 176 40 18.5185 HAVCR2 0 genome.wustl.edu 37 5 156514218 156514218 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 156514218 156514218 A G SNP HAVCR2 ENST00000307851 human ensembl 74_37 -1 known silent c.801 p.I267 0.872 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR2 HGNC ENSG00000135077 104 0 0 89 5 5.31915 FBXL7 0 genome.wustl.edu 37 5 15936751 15936751 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 15936751 15936751 T C SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.932 p.L311P 1.000 smart_Leu-rich_rpt_Cys-con_subtyp 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 42 0 0 36 7 16.2791 GABRA6 0 genome.wustl.edu 37 5 161116141 161116141 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 161116141 161116141 A G SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.412 p.I138V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 59 0 0 40 8 16.6667 MYO10 0 genome.wustl.edu 37 5 16672919 16672919 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 16672919 16672919 T C SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.5188 p.I1730V 1.000 pfam_Ras-assoc,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 40 0 0 21 5 19.2308 MYO10 0 genome.wustl.edu 37 5 16701393 16701393 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 16701393 16701393 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.3111 p.N1037 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 44 0 0 35 6 14.6341 TENM2 0 genome.wustl.edu 37 5 167589717 167589717 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 167589717 167589717 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.2524 p.V842I 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 83 0 0 69 14 16.8675 SH3PXD2B 0 genome.wustl.edu 37 5 171777412 171777412 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 171777412 171777412 C A SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known missense c.967 p.G323W 0.009 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 91 0 0 65 6 8.4507 DRD1 0 genome.wustl.edu 37 5 174870015 174870015 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 174870015 174870015 G T SNP DRD1 ENST00000393752 human ensembl 74_37 -1 known missense c.88 p.L30M 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam - no_errors DRD1 HGNC ENSG00000184845 128 1 0.775194 82 20 19.6078 RNF44 0 genome.wustl.edu 37 5 175959004 175959004 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 175959004 175959004 C T SNP RNF44 ENST00000274811 human ensembl 74_37 -1 known splice_site c.297+1 e2+1 1.000 - - - no_errors RNF44 HGNC ENSG00000146083 81 0 0 81 5 5.81395 RGS14 0 genome.wustl.edu 37 5 176797920 176797920 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 176797920 176797920 C T SNP RGS14 ENST00000408923 human ensembl 74_37 +1 known missense c.1142 p.A381V 0.002 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS14 HGNC ENSG00000169220 37 0 0 36 6 14.2857 CANX 0 genome.wustl.edu 37 5 179150668 179150668 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 179150668 179150668 T C SNP CANX ENST00000415618 human ensembl 74_37 +1 known missense c.1511 p.V504A 0.823 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 177 0 0 141 22 13.4969 CDH10 0 genome.wustl.edu 37 5 24509929 24509929 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 24509929 24509929 C T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known splice_site c.1003-1 e6-1 1.000 - - - no_errors CDH10 HGNC ENSG00000040731 67 0 0 38 13 25.4902 PDZD2 0 genome.wustl.edu 37 5 31983446 31983446 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 31983446 31983446 T C SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.662 p.V221A 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 115 0 0 88 23 20.7207 RXFP3 0 genome.wustl.edu 37 5 33937788 33937788 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 33937788 33937788 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.943 p.G315R 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 33 0 0 9 6 40 NIPBL 0 genome.wustl.edu 37 5 37045628 37045628 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 37045628 37045628 T A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.6427 p.S2143T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 245 1 0.406504 244 50 17.0068 MROH2B 0 genome.wustl.edu 37 5 41004956 41004956 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 41004956 41004956 T C SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.3931 p.S1311G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 70 0 0 52 9 14.7541 MROH2B 0 genome.wustl.edu 37 5 41018858 41018858 + Nonsense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 41018858 41018858 C A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known nonsense c.2608 p.G870* 0.480 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 97 0 0 80 22 21.5686 C6 0 genome.wustl.edu 37 5 41160334 41160334 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 41160334 41160334 G A SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.1594 p.P532S 1.000 prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 179 0 0 122 21 14.6853 HCN1 0 genome.wustl.edu 37 5 45303873 45303873 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 45303873 45303873 A C SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1446 p.N482K 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 140 0 0 117 38 24.5161 ISL1 0 genome.wustl.edu 37 5 50685514 50685514 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 50685514 50685514 G A SNP ISL1 ENST00000230658 human ensembl 74_37 +1 known silent c.513 p.R171 0.998 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL1 HGNC ENSG00000016082 59 0 0 40 12 23.0769 CCNO 0 genome.wustl.edu 37 5 54527374 54527374 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 54527374 54527374 C T SNP CCNO ENST00000282572 human ensembl 74_37 -1 known missense c.882 p.M294I 0.997 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNO HGNC ENSG00000152669 71 0 0 49 16 24.6154 MAP3K1 0 genome.wustl.edu 37 5 56168713 56168713 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 56168713 56168713 G A SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.1567 p.V523I 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 79 0 0 83 12 12.6316 HTR1A 0 genome.wustl.edu 37 5 63256881 63256881 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 63256881 63256881 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.666 p.A222 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 214 0 0 151 32 17.4863 PAPD7 0 genome.wustl.edu 37 5 6739961 6739961 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 6739961 6739961 C A SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.254 p.A85D 1.000 pfam_Nucleotidyltransferase pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 61 0 0 48 13 21.3115 TMEM171 0 genome.wustl.edu 37 5 72419385 72419385 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 72419385 72419385 C T SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known missense c.185 p.A62V 0.000 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 78 0 0 80 5 5.88235 XRCC4 0 genome.wustl.edu 37 5 82554470 82554470 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 82554470 82554470 G T SNP XRCC4 ENST00000338635 human ensembl 74_37 +1 known missense c.867 p.Q289H 0.992 pfam_DNA_repair_prot_XRCC4 pfam_DNA_repair_prot_XRCC4,superfamily_XRCC4_N - no_errors XRCC4 HGNC ENSG00000152422 63 0 0 49 11 18.3333 RGMB 0 genome.wustl.edu 37 5 98115291 98115291 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 98115291 98115291 C T SNP RGMB ENST00000308234 human ensembl 74_37 +1 known silent c.267 p.C89 1.000 pfam_RGM_N pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 274 0 0 195 43 18.0672 ASCC3 0 genome.wustl.edu 37 6 101053556 101053556 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 101053556 101053556 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.5065 p.R1689C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 49 0 0 43 8 15.6863 GRIK2 0 genome.wustl.edu 37 6 102266333 102266333 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 102266333 102266333 G A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.1292 p.R431H 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 31 0 0 22 7 24.1379 BEND3 0 genome.wustl.edu 37 6 107390838 107390838 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 107390838 107390838 G A SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.1557 p.G519 0.568 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 53 0 0 32 8 20 GPR6 0 genome.wustl.edu 37 6 110300547 110300547 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 110300547 110300547 C T SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.277 p.L93F 1.000 prints_GPR_3/6/12_orphan pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 180 0 0 139 32 18.7135 KPNA5 0 genome.wustl.edu 37 6 117010486 117010486 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 117010486 117010486 C A SNP KPNA5 ENST00000356348 human ensembl 74_37 +1 known missense c.8 p.A3D 1.000 pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 194 0 0 163 33 16.8367 GPRC6A 0 genome.wustl.edu 37 6 117130556 117130556 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 117130556 117130556 A C SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.419 p.V140G 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 100 0 0 69 15 17.8571 RFX6 0 genome.wustl.edu 37 6 117248667 117248667 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 117248667 117248667 G A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.2363 p.C788Y 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 74 0 0 62 5 7.46269 HIVEP1 0 genome.wustl.edu 37 6 12125503 12125503 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 12125503 12125503 T C SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.5475 p.N1825 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 133 0 0 102 26 20.3125 SOGA3 0 genome.wustl.edu 37 6 127796581 127796581 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 127796581 127796581 G T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2590 p.R864S 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 142 0 0 101 22 17.8862 TMEM200A 0 genome.wustl.edu 37 6 130762913 130762913 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 130762913 130762913 C G SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.1346 p.A449G 0.007 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 87 0 0 77 10 11.4943 GFOD1 0 genome.wustl.edu 37 6 13365634 13365634 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 13365634 13365634 C T SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.514 p.G172S 1.000 pfam_OxRdtase_C pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 41 0 0 22 4 15.3846 MAP7 0 genome.wustl.edu 37 6 136698972 136698972 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 136698972 136698972 G A SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known silent c.738 p.S246 1.000 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 79 0 0 71 14 16.4706 MAP7 0 genome.wustl.edu 37 6 136742893 136742893 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 136742893 136742893 G A SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known missense c.178 p.R60C 0.718 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 127 0 0 117 22 15.8273 TNFAIP3 0 genome.wustl.edu 37 6 138202374 138202374 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 138202374 138202374 C T SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.2291 p.A764V 1.000 pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20 pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 150 0 0 130 24 15.5844 GRM1 0 genome.wustl.edu 37 6 146351044 146351044 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 146351044 146351044 C A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.391 p.R131 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 105 0 0 62 14 18.4211 PLEKHG1 0 genome.wustl.edu 37 6 151054849 151054849 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 151054849 151054849 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.32 p.S11N 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 132 0 0 118 20 14.4928 C6orf211 0 genome.wustl.edu 37 6 151789994 151789994 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 151789994 151789994 G A SNP C6orf211 ENST00000367294 human ensembl 74_37 +1 known missense c.1075 p.A359T 1.000 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 92 0 0 95 18 15.9292 SYNE1 0 genome.wustl.edu 37 6 152734552 152734552 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 152734552 152734552 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.6165 p.E2055D 0.995 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 145 0 0 118 27 18.6207 JARID2 0 genome.wustl.edu 37 6 15496729 15496729 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 15496729 15496729 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1273 p.R425W 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 87 0 0 68 5 6.84932 JARID2 0 genome.wustl.edu 37 6 15520332 15520332 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 15520332 15520332 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.3591 p.C1197 0.996 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 55 0 0 50 12 19.3548 TULP4 0 genome.wustl.edu 37 6 158900838 158900838 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 158900838 158900838 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.1082 p.S361L 0.951 superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 101 0 0 75 13 14.7727 AGPAT4 0 genome.wustl.edu 37 6 161560486 161560486 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 161560486 161560486 G A SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.1010 p.T337M 0.997 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 191 0 0 153 22 12.5714 C6orf118 0 genome.wustl.edu 37 6 165715715 165715715 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 165715715 165715715 C T SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known silent c.96 p.T32 0.006 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 140 0 0 104 14 11.8644 GPR31 0 genome.wustl.edu 37 6 167570859 167570859 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 167570859 167570859 T C SNP GPR31 ENST00000366834 human ensembl 74_37 -1 known missense c.461 p.E154G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC ENSG00000120436 148 0 0 118 15 11.2782 TBP 0 genome.wustl.edu 37 6 170871040 170871040 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 170871040 170871040 A G SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.216 p.Q72 0.938 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 98 0 0 57 3 5 TBP 0 genome.wustl.edu 37 6 170871061 170871061 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 170871061 170871061 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.237 p.Q79 0.988 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 72 0 0 41 5 10.8696 C6orf62 0 genome.wustl.edu 37 6 24714607 24714607 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 24714607 24714607 T C SNP C6orf62 ENST00000378119 human ensembl 74_37 -1 known missense c.368 p.K123R 1.000 NULL NULL - no_errors C6orf62 HGNC ENSG00000112308 99 0 0 87 18 17.1429 BTN3A3 0 genome.wustl.edu 37 6 26452193 26452193 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 26452193 26452193 A G SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known missense c.1309 p.T437A 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 124 0 0 85 14 14.1414 BTN1A1 0 genome.wustl.edu 37 6 26501975 26501975 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 26501975 26501975 C T SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known silent c.237 p.D79 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 55 0 0 27 6 18.1818 NKAPL 0 genome.wustl.edu 37 6 28227433 28227433 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 28227433 28227433 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.284 p.R95H 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 103 1 0.961538 76 18 19.1489 OR5V1 0 genome.wustl.edu 37 6 29323689 29323689 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 29323689 29323689 A G SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.284 p.V95A 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 OR5V1 HGNC ENSG00000243729 99 0 0 80 16 16.6667 HLA-A 0 genome.wustl.edu 37 6 29910672 29910672 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 29910672 29910672 C A SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known missense c.212 p.P71Q 0.914 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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-A HGNC ENSG00000206503 56 0 0 38 14 26.9231 PPP1R11 0 genome.wustl.edu 37 6 30036905 30036905 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 30036905 30036905 G A SNP PPP1R11 ENST00000376772 human ensembl 74_37 +1 known missense c.203 p.R68Q 1.000 pfam_PPI_Ypi1 pfam_PPI_Ypi1 - no_errors PPP1R11 HGNC ENSG00000204619 86 0 0 60 18 23.0769 HLA-B 0 genome.wustl.edu 37 6 31323371 31323371 + Splice_Site SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 31323371 31323371 T G SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known splice_site c.620-2 e4-2 0.926 - - - no_errors HLA-B HGNC ENSG00000234745 167 0 0 157 39 19.898 PRRC2A 0 genome.wustl.edu 37 6 31597533 31597533 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 31597533 31597533 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.2165 p.R722Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 83 0 0 62 10 13.8889 VARS 0 genome.wustl.edu 37 6 31747238 31747238 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 31747238 31747238 G A SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.3364 p.R1122W 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 52 0 0 41 7 14.5833 TNXB 0 genome.wustl.edu 37 6 32035685 32035685 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 32035685 32035685 C A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.6297 p.G2099 0.995 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 105 0 0 94 16 14.5455 COL11A2 0 genome.wustl.edu 37 6 33137233 33137233 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 33137233 33137233 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.3725 p.S1242L 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 63 0 0 33 9 21.4286 BAK1 0 genome.wustl.edu 37 6 33543205 33543205 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 33543205 33543205 C T SNP BAK1 ENST00000360661 human ensembl 74_37 -1 known missense c.220 p.V74M 1.000 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAK1 HGNC ENSG00000030110 64 0 0 50 19 27.5362 PPARD 0 genome.wustl.edu 37 6 35389648 35389648 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 35389648 35389648 C T SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.337 p.R113C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 68 0 0 56 12 17.6471 TULP1 0 genome.wustl.edu 37 6 35473838 35473838 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 35473838 35473838 T C SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known missense c.941 p.K314R 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 129 0 0 142 8 5.33333 PPIL1 0 genome.wustl.edu 37 6 36842542 36842542 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 36842542 36842542 C T SNP PPIL1 ENST00000373699 human ensembl 74_37 -1 known missense c.7 p.A3T 0.992 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL1 HGNC ENSG00000137168 47 0 0 32 4 11.1111 DNAH8 0 genome.wustl.edu 37 6 38747811 38747811 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 38747811 38747811 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.1458 p.Y486 0.876 pfam_Dynein_heavy_dom-1 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 DNAH8 HGNC ENSG00000124721 58 0 0 35 8 18.6047 LRFN2 0 genome.wustl.edu 37 6 40399747 40399747 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 40399747 40399747 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.1106 p.T369M 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 71 0 0 44 9 16.9811 XPO5 0 genome.wustl.edu 37 6 43515414 43515414 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 43515414 43515414 C T SNP XPO5 ENST00000265351 human ensembl 74_37 -1 known silent c.2091 p.A697 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 79 0 0 50 12 19.3548 TDRD6 0 genome.wustl.edu 37 6 46659451 46659451 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 46659451 46659451 A C SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.3586 p.S1196R 0.001 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 82 0 0 59 12 16.9014 PLA2G7 0 genome.wustl.edu 37 6 46679257 46679257 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 46679257 46679257 C T SNP PLA2G7 ENST00000274793 human ensembl 74_37 -1 known silent c.639 p.E213 0.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 166 0 0 142 33 18.8571 GPR111 0 genome.wustl.edu 37 6 47649996 47649996 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 47649996 47649996 C A SNP GPR111 ENST00000296862 human ensembl 74_37 +1 known silent c.1701 p.G567 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 95 0 0 75 10 11.7647 MUT 0 genome.wustl.edu 37 6 49416614 49416614 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 49416614 49416614 A G SNP MUT ENST00000274813 human ensembl 74_37 -1 known silent c.1359 p.G453 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 141 0 0 124 18 12.6761 MCM3 0 genome.wustl.edu 37 6 52144285 52144285 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 52144285 52144285 C T SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known missense c.779 p.R260H 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase,prints_Mcm3 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 156 0 0 108 30 21.7391 RREB1 0 genome.wustl.edu 37 6 7231972 7231972 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 7231972 7231972 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.3640 p.D1214N 0.509 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 60 0 0 40 9 18.3673 OOEP 0 genome.wustl.edu 37 6 74078937 74078937 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 74078937 74078937 C T SNP OOEP ENST00000370359 human ensembl 74_37 -1 known missense c.362 p.R121H 0.001 NULL NULL - no_errors OOEP HGNC ENSG00000203907 60 0 0 48 5 9.43396 DSP 0 genome.wustl.edu 37 6 7576615 7576615 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 7576615 7576615 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.2719 p.R907C 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 89 0 0 82 14 14.5833 IBTK 0 genome.wustl.edu 37 6 82950101 82950101 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 82950101 82950101 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.103 p.A35T 0.999 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 165 0 0 155 32 17.1123 MEPCE 0 genome.wustl.edu 37 7 100028470 100028470 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 100028470 100028470 G A SNP MEPCE ENST00000310512 human ensembl 74_37 +1 known missense c.829 p.G277R 0.987 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 166 0 0 137 33 19.4118 NYAP1 0 genome.wustl.edu 37 7 100085812 100085812 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 100085812 100085812 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known silent c.468 p.S156 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 259 0 0 196 46 19.0083 MUC17 0 genome.wustl.edu 37 7 100678887 100678887 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 100678887 100678887 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.4190 p.P1397L 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 637 0 0 518 82 13.6667 TRIM56 0 genome.wustl.edu 37 7 100732016 100732016 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 100732016 100732016 A C SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.1423 p.S475R 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 146 0 0 104 25 19.3798 VGF 0 genome.wustl.edu 37 7 100807605 100807605 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 100807605 100807605 C T SNP VGF ENST00000249330 human ensembl 74_37 -1 known missense c.520 p.A174T 0.882 NULL NULL - no_errors VGF HGNC ENSG00000128564 103 0 0 66 13 16.4557 ALKBH4 0 genome.wustl.edu 37 7 102098052 102098052 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 102098052 102098052 G A SNP ALKBH4 ENST00000292566 human ensembl 74_37 -1 known missense c.698 p.A233V 0.999 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH4 HGNC ENSG00000160993 16 0 0 19 6 24 DNAJC2 0 genome.wustl.edu 37 7 102982389 102982389 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 102982389 102982389 C T SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.77 p.C26Y 1.000 superfamily_DnaJ_domain pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 71 0 0 45 12 21.0526 PSMC2 0 genome.wustl.edu 37 7 103004675 103004675 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 103004675 103004675 C T SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known missense c.677 p.A226V 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 103 1 0.961538 81 14 14.7368 RELN 0 genome.wustl.edu 37 7 103293021 103293021 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 103293021 103293021 A G SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.1740 p.C580 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 91 0 0 67 11 14.1026 PUS7 0 genome.wustl.edu 37 7 105148756 105148756 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 105148756 105148756 C T SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known silent c.204 p.G68 0.000 pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 201 0 0 153 27 15 LAMB4 0 genome.wustl.edu 37 7 107738955 107738955 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 107738955 107738955 G A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.1253 p.S418F 0.002 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 80 0 0 76 7 8.43373 TMEM168 0 genome.wustl.edu 37 7 112423832 112423832 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 112423832 112423832 C T SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 superfamily_ConA-like_lec_gl_sf superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 225 0 0 194 12 5.82524 C7orf60 0 genome.wustl.edu 37 7 112555379 112555379 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 112555379 112555379 C T SNP C7orf60 ENST00000297145 human ensembl 74_37 -1 known missense c.284 p.R95H 1.000 NULL pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 78 0 0 79 15 15.9574 PPP1R3A 0 genome.wustl.edu 37 7 113558541 113558541 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 113558541 113558541 C G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.511 p.D171H 1.000 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 68 0 0 44 8 15.3846 ANKRD7 0 genome.wustl.edu 37 7 117874902 117874902 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 117874902 117874902 G A SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known missense c.502 p.E168K 0.005 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 55 0 0 47 10 17.5439 PTPRZ1 0 genome.wustl.edu 37 7 121679626 121679626 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 121679626 121679626 A C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.5621 p.N1874T 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_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 57 0 0 27 6 18.1818 SMO 0 genome.wustl.edu 37 7 128850231 128850231 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 128850231 128850231 G A SNP SMO ENST00000249373 human ensembl 74_37 +1 known silent c.1494 p.L498 0.996 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 103 0 0 75 11 12.7907 PLXNA4 0 genome.wustl.edu 37 7 131982977 131982977 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 131982977 131982977 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1376 p.R459Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 PLXNA4 HGNC ENSG00000221866 79 0 0 55 10 15.3846 ZC3HAV1L 0 genome.wustl.edu 37 7 138713581 138713581 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 138713581 138713581 C T SNP ZC3HAV1L ENST00000275766 human ensembl 74_37 -1 known silent c.627 p.R209 0.027 NULL NULL - no_errors ZC3HAV1L HGNC ENSG00000146858 50 0 0 46 11 19.2982 TBXAS1 0 genome.wustl.edu 37 7 139611034 139611034 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 139611034 139611034 G T SNP TBXAS1 ENST00000416849 human ensembl 74_37 +1 known missense c.250 p.G84C 1.000 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_B - no_errors TBXAS1 HGNC ENSG00000059377 131 1 0.757576 118 20 14.4928 NDUFB2 0 genome.wustl.edu 37 7 140402766 140402766 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 140402766 140402766 T C SNP NDUFB2 ENST00000247866 human ensembl 74_37 +1 known missense c.199 p.F67L 1.000 NULL NULL - no_errors NDUFB2 HGNC ENSG00000090266 272 2 0.729927 220 44 16.6667 TAS2R3 0 genome.wustl.edu 37 7 141464526 141464526 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 141464526 141464526 C T SNP TAS2R3 ENST00000247879 human ensembl 74_37 +1 known silent c.568 p.L190 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 70 0 0 50 8 13.7931 TAS2R4 0 genome.wustl.edu 37 7 141478798 141478798 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 141478798 141478798 C A SNP TAS2R4 ENST00000247881 human ensembl 74_37 +1 known silent c.510 p.I170 0.005 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 257 1 0.387597 230 39 14.4981 TRPV5 0 genome.wustl.edu 37 7 142605706 142605706 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 142605706 142605706 C T SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.2164 p.D722N 0.507 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 80 0 0 68 13 16.0494 SSPO 0 genome.wustl.edu 37 7 149502667 149502667 + RNA SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 149502667 149502667 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 47 0 0 39 12 23.5294 GBX1 0 genome.wustl.edu 37 7 150846112 150846112 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 150846112 150846112 A G SNP GBX1 ENST00000297537 human ensembl 74_37 -1 known missense c.656 p.L219P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors GBX1 HGNC ENSG00000164900 487 0 0 378 80 17.4672 INTS1 0 genome.wustl.edu 37 7 1511207 1511207 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 1511207 1511207 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.6867 p.S2289 0.995 superfamily_ARM-type_fold pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 91 0 0 77 15 16.3043 GALNT11 0 genome.wustl.edu 37 7 151800311 151800311 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 151800311 151800311 G A SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known silent c.534 p.T178 0.046 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 72 0 0 65 5 7.14286 GALNT11 0 genome.wustl.edu 37 7 151805218 151805218 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 151805218 151805218 G A SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known missense c.808 p.V270M 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 67 0 0 52 12 18.75 DNAH11 0 genome.wustl.edu 37 7 21640745 21640745 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 21640745 21640745 A G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.3373 p.K1125E 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 65 0 0 85 6 6.59341 SKAP2 0 genome.wustl.edu 37 7 26729927 26729927 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 26729927 26729927 T C SNP SKAP2 ENST00000345317 human ensembl 74_37 -1 known missense c.851 p.Q284R 1.000 superfamily_SH3_domain pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP2 HGNC ENSG00000005020 89 0 0 82 17 17.1717 HOXA1 0 genome.wustl.edu 37 7 27134370 27134370 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 27134370 27134370 G A SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known missense c.697 p.R233C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 120 1 0.826446 103 27 20.7692 CARD11 0 genome.wustl.edu 37 7 2984023 2984023 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 2984023 2984023 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.507 p.T169 0.721 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 164 0 0 105 25 19.2308 ELMO1 0 genome.wustl.edu 37 7 37136224 37136224 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 37136224 37136224 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1300 p.P434S 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 82 0 0 75 4 5.06329 POLD2 0 genome.wustl.edu 37 7 44157263 44157263 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 44157263 44157263 G A SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known missense c.421 p.R141C 1.000 NULL pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 23 0 0 15 2 11.7647 ADCY1 0 genome.wustl.edu 37 7 45699707 45699707 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 45699707 45699707 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.1374 p.Y458 0.069 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 103 0 0 81 17 17.3469 ADCY1 0 genome.wustl.edu 37 7 45725766 45725766 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 45725766 45725766 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.2279 p.T760I 0.064 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 109 0 0 123 7 5.38462 AP5Z1 0 genome.wustl.edu 37 7 4823848 4823848 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 4823848 4823848 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.636 p.T212 0.948 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 15 0 0 12 4 25 ABCA13 0 genome.wustl.edu 37 7 48285466 48285466 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 48285466 48285466 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.1498 p.A500T 0.054 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 43 0 0 30 4 11.7647 ASL 0 genome.wustl.edu 37 7 65547883 65547883 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 65547883 65547883 C T SNP ASL ENST00000304874 human ensembl 74_37 +1 known missense c.308 p.T103M 0.010 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 46 0 0 45 7 13.4615 GTF2IRD2P1 0 genome.wustl.edu 37 7 72683331 72683331 + RNA SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 72683331 72683331 A G SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 314 0 0 248 42 14.4828 TBL2 0 genome.wustl.edu 37 7 72984992 72984992 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 72984992 72984992 G A SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known missense c.1189 p.R397W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 78 0 0 61 4 6.15385 LIMK1 0 genome.wustl.edu 37 7 73513447 73513447 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 73513447 73513447 G A SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known missense c.487 p.V163I 0.999 superfamily_PDZ pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 205 0 0 179 32 15.1659 MIOS 0 genome.wustl.edu 37 7 7612723 7612723 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 7612723 7612723 G A SNP MIOS ENST00000340080 human ensembl 74_37 +1 known missense c.617 p.R206H 1.000 smart_WD40_repeat smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 58 0 0 42 13 23.6364 POMZP3 0 genome.wustl.edu 37 7 76255377 76255377 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 76255377 76255377 A G SNP POMZP3 ENST00000310842 human ensembl 74_37 -1 known missense c.5 p.V2A 0.032 NULL pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 69 0 0 52 3 5.45455 CD36 0 genome.wustl.edu 37 7 80285858 80285858 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 80285858 80285858 A C SNP CD36 ENST00000309881 human ensembl 74_37 +1 known missense c.123 p.Q41H 1.000 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 51 0 0 50 8 13.7931 ABCB4 0 genome.wustl.edu 37 7 87073079 87073079 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 87073079 87073079 A T SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.1130 p.I377N 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 57 0 0 41 7 14.5833 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99022445 99022445 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 99022445 99022445 G A SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known silent c.1857 p.D619 0.664 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 71 0 0 38 9 19.1489 PILRB 0 genome.wustl.edu 37 7 99955941 99955941 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 99955941 99955941 C T SNP PILRB ENST00000448382 human ensembl 74_37 +1 known silent c.382 p.L128 0.008 NULL NULL - no_errors PILRB HGNC ENSG00000121716 139 0 0 108 17 13.6 VPS13B 0 genome.wustl.edu 37 8 100523683 100523683 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 100523683 100523683 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.4651 p.T1551A 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 45 0 0 44 6 12 RGS22 0 genome.wustl.edu 37 8 101076163 101076163 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 101076163 101076163 A C SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.833 p.V278G 0.016 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 186 1 0.534759 179 34 15.9624 PABPC1 0 genome.wustl.edu 37 8 101733798 101733798 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 101733798 101733798 G A SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.14 p.A5V 1.000 NULL pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 39 0 0 31 8 20.5128 NCALD 0 genome.wustl.edu 37 8 102731832 102731832 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 102731832 102731832 C T SNP NCALD ENST00000311028 human ensembl 74_37 -1 known missense c.26 p.R9H 1.000 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 91 0 0 92 19 17.1171 RP1L1 0 genome.wustl.edu 37 8 10470612 10470612 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 10470612 10470612 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.996 p.V332 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 156 0 0 141 31 18.0233 NUDCD1 0 genome.wustl.edu 37 8 110308619 110308619 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 110308619 110308619 T A SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known missense c.453 p.K151N 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 129 1 0.769231 120 30 20 CSMD3 0 genome.wustl.edu 37 8 113657441 113657441 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 113657441 113657441 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.3207 p.G1069 0.999 pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,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 71 0 0 80 19 19.1919 CSMD3 0 genome.wustl.edu 37 8 113966979 113966979 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 113966979 113966979 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1354 p.I452V 1.000 NULL 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 27 0 0 27 6 18.1818 COLEC10 0 genome.wustl.edu 37 8 120114599 120114599 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 120114599 120114599 A G SNP COLEC10 ENST00000332843 human ensembl 74_37 +1 known missense c.305 p.E102G 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC10 HGNC ENSG00000184374 53 0 0 46 10 17.8571 ATAD2 0 genome.wustl.edu 37 8 124382158 124382158 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 124382158 124382158 T A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.834 p.E278D 0.866 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 51 0 0 38 9 19.1489 FBXO32 0 genome.wustl.edu 37 8 124544175 124544175 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 124544175 124544175 G A SNP FBXO32 ENST00000517956 human ensembl 74_37 -1 known missense c.335 p.A112V 1.000 NULL superfamily_F-box_dom - no_errors FBXO32 HGNC ENSG00000156804 126 0 0 110 26 19.1176 LONRF1 0 genome.wustl.edu 37 8 12594548 12594548 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 12594548 12594548 C A SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known missense c.1215 p.E405D 0.979 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 109 0 0 99 17 14.6552 NSMCE2 0 genome.wustl.edu 37 8 126114681 126114681 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 126114681 126114681 G T SNP NSMCE2 ENST00000287437 human ensembl 74_37 +1 known missense c.109 p.G37C 1.000 NULL pfscan_Znf_MIZ - no_errors NSMCE2 HGNC ENSG00000156831 150 0 0 139 19 12.0253 EFR3A 0 genome.wustl.edu 37 8 132952816 132952816 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 132952816 132952816 T C SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.81 p.D27 0.989 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 19 0 0 15 4 21.0526 DENND3 0 genome.wustl.edu 37 8 142199100 142199100 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 142199100 142199100 G A SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.2860 p.A954T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 49 0 0 48 9 15.7895 GPR20 0 genome.wustl.edu 37 8 142367165 142367165 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 142367165 142367165 T C SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known missense c.859 p.S287G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 80 0 0 75 14 15.7303 LY6D 0 genome.wustl.edu 37 8 143867043 143867043 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 143867043 143867043 C T SNP LY6D ENST00000301263 human ensembl 74_37 -1 known missense c.113 p.C38Y 0.020 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6D HGNC ENSG00000167656 98 0 0 96 18 15.7895 GPIHBP1 0 genome.wustl.edu 37 8 144296900 144296900 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 144296900 144296900 G A SNP GPIHBP1 ENST00000330824 human ensembl 74_37 +1 known missense c.194 p.C65Y 0.069 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors GPIHBP1 HGNC ENSG00000182851 12 0 0 16 4 20 ZNF696 0 genome.wustl.edu 37 8 144378828 144378828 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 144378828 144378828 G A SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known missense c.983 p.R328H 0.010 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 21 0 0 13 3 18.75 EEF1D 0 genome.wustl.edu 37 8 144662275 144662275 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 144662275 144662275 G A SNP EEF1D ENST00000532400 human ensembl 74_37 -1 novel missense c.161 p.T54M 0.886 NULL NULL - no_errors EEF1D HGNC ENSG00000104529 59 0 0 65 12 15.5844 FAM83H 0 genome.wustl.edu 37 8 144808253 144808253 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 144808253 144808253 C T SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known missense c.3378 p.M1126I 1.000 NULL pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 28 0 0 20 5 20 SCRIB 0 genome.wustl.edu 37 8 144890967 144890967 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 144890967 144890967 C A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.1927 p.G643W 0.004 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 116 0 0 133 11 7.63889 EPPK1 0 genome.wustl.edu 37 8 144943762 144943762 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 144943762 144943762 C A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.3660 p.E1220D 0.002 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 16 0 0 15 2 11.7647 SCRT1 0 genome.wustl.edu 37 8 145559733 145559733 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 145559733 145559733 C T SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known silent c.99 p.A33 0.526 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 25 0 0 23 4 14.8148 SLC39A4 0 genome.wustl.edu 37 8 145638044 145638044 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 145638044 145638044 C T SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known missense c.1822 p.A608T 0.975 pfam_ZIP pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 67 0 0 82 7 7.86517 SLC39A4 0 genome.wustl.edu 37 8 145640473 145640473 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 145640473 145640473 C T SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known missense c.689 p.R230H 0.246 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 86 0 0 87 17 16.3462 CLN8 0 genome.wustl.edu 37 8 1728566 1728566 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 1728566 1728566 A C SNP CLN8 ENST00000331222 human ensembl 74_37 +1 known missense c.694 p.T232P 0.001 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors CLN8 HGNC ENSG00000182372 127 0 0 121 15 11.0294 PCM1 0 genome.wustl.edu 37 8 17817868 17817868 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 17817868 17817868 T C SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.2237 p.L746P 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 58 0 0 75 21 21.875 NAT2 0 genome.wustl.edu 37 8 18257800 18257800 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 18257800 18257800 C T SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known missense c.287 p.P96L 0.000 pfam_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 154 0 0 134 21 13.5484 LZTS1 0 genome.wustl.edu 37 8 20107417 20107417 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 20107417 20107417 T G SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.1607 p.K536T 1.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 118 0 0 113 16 12.4031 LZTS1 0 genome.wustl.edu 37 8 20110667 20110667 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 20110667 20110667 C A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.775 p.D259Y 0.998 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 129 0 0 138 15 9.80392 GFRA2 0 genome.wustl.edu 37 8 21608373 21608373 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 21608373 21608373 C T SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known missense c.521 p.C174Y 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 76 0 0 66 6 8.33333 BMP1 0 genome.wustl.edu 37 8 22066962 22066962 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 22066962 22066962 C T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known silent c.2580 p.C860 0.759 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 115 0 0 132 22 14.2857 CCAR2 0 genome.wustl.edu 37 8 22473348 22473348 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 22473348 22473348 G A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.1531 p.A511T 0.819 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 107 1 0.925926 117 20 14.5985 NEFM 0 genome.wustl.edu 37 8 24771399 24771399 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 24771399 24771399 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.93 p.P31 1.000 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 54 0 0 46 11 19.2982 TRIM35 0 genome.wustl.edu 37 8 27145310 27145310 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 27145310 27145310 C T SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known silent c.1239 p.S413 0.006 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 29 0 0 25 4 13.7931 ZNF395 0 genome.wustl.edu 37 8 28218564 28218564 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 28218564 28218564 C A SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known missense c.78 p.E26D 0.037 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 52 0 0 51 14 21.5385 INTS9 0 genome.wustl.edu 37 8 28625830 28625830 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 28625830 28625830 T C SNP INTS9 ENST00000521022 human ensembl 74_37 -1 known missense c.1810 p.S604G 1.000 NULL pfam_Beta_Casp - no_errors INTS9 HGNC ENSG00000104299 224 2 0.884956 225 34 13.1274 KIF13B 0 genome.wustl.edu 37 8 29005051 29005051 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 29005051 29005051 G A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.1882 p.R628C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 44 0 0 42 6 12.5 CSMD1 0 genome.wustl.edu 37 8 3008955 3008955 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 3008955 3008955 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5998 p.D2000Y 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 CSMD1 HGNC ENSG00000183117 33 0 0 33 3 8.33333 WRN 0 genome.wustl.edu 37 8 30958372 30958372 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 30958372 30958372 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.1989 p.T663 0.273 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 56 0 0 53 12 18.4615 UNC5D 0 genome.wustl.edu 37 8 35579836 35579836 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 35579836 35579836 A G SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1226 p.D409G 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,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 UNC5D HGNC ENSG00000156687 266 1 0.374532 263 42 13.7705 RAB11FIP1 0 genome.wustl.edu 37 8 37730005 37730005 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 37730005 37730005 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.2315 p.A772V 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 133 0 0 118 25 17.4825 ADAM32 0 genome.wustl.edu 37 8 39112035 39112035 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 39112035 39112035 G A SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.2005 p.G669S 0.840 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 20 0 0 5 2 28.5714 IKBKB 0 genome.wustl.edu 37 8 42175289 42175289 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 42175289 42175289 C T SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known missense c.1240 p.L414F 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 61 0 0 92 6 6.12245 HOOK3 0 genome.wustl.edu 37 8 42837826 42837826 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 42837826 42837826 A G SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1378 p.T460A 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 76 0 0 63 7 10 PRKDC 0 genome.wustl.edu 37 8 48825009 48825009 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 48825009 48825009 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.2895 p.T965 0.001 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 214 0 0 189 35 15.625 PXDNL 0 genome.wustl.edu 37 8 52721799 52721799 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 52721799 52721799 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.106 p.R36C 0.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 29 0 0 32 5 13.5135 ST18 0 genome.wustl.edu 37 8 53050089 53050089 + RNA SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 53050089 53050089 G T SNP ST18 ENST00000518501 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ST18 HGNC ENSG00000147488 25 0 0 23 4 14.8148 RP1 0 genome.wustl.edu 37 8 55540178 55540178 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 55540178 55540178 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3736 p.A1246T 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 153 0 0 137 34 19.883 RP1 0 genome.wustl.edu 37 8 55540519 55540519 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 55540519 55540519 T G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.4077 p.T1359 0.064 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 77 0 0 62 7 10.1449 TOX 0 genome.wustl.edu 37 8 59728047 59728047 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 59728047 59728047 A C SNP TOX ENST00000361421 human ensembl 74_37 -1 known silent c.1242 p.A414 0.925 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 65 0 0 63 11 14.8649 PDE7A 0 genome.wustl.edu 37 8 66639191 66639191 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 66639191 66639191 A G SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known missense c.839 p.V280A 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 157 0 0 143 22 13.3333 ALG1L13P 0 genome.wustl.edu 37 8 8097785 8097785 + RNA SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 8097785 8097785 T C SNP ALG1L13P ENST00000522393 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors ALG1L13P HGNC ENSG00000253981 28 0 0 22 6 21.4286 MMP16 0 genome.wustl.edu 37 8 89198805 89198805 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 89198805 89198805 C T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.304 p.G102S 1.000 pirsf_Pept_M10A_Metazoans,superfamily_Peptidoglycan-bd-like,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 176 1 0.564972 185 34 15.5251 PPP1R3B 0 genome.wustl.edu 37 8 8998807 8998807 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 8998807 8998807 C T SNP PPP1R3B ENST00000310455 human ensembl 74_37 -1 known missense c.355 p.A119T 0.883 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 94 0 0 84 10 10.6383 CALB1 0 genome.wustl.edu 37 8 91078155 91078155 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 91078155 91078155 T C SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known missense c.421 p.T141A 0.920 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 58 0 0 64 11 14.6667 GDF6 0 genome.wustl.edu 37 8 97157037 97157037 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 97157037 97157037 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known silent c.1122 p.A374 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 52 0 0 45 5 10 TSPYL5 0 genome.wustl.edu 37 8 98289908 98289908 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 98289908 98289908 A G SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known silent c.165 p.A55 0.989 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 11 0 0 9 5 35.7143 POP1 0 genome.wustl.edu 37 8 99168525 99168525 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 99168525 99168525 G A SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.2305 p.A769T 0.002 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 151 0 0 154 20 11.4943 SLC44A1 0 genome.wustl.edu 37 9 108136891 108136891 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 108136891 108136891 G A SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known missense c.1507 p.A503T 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 113 0 0 106 26 19.697 IKBKAP 0 genome.wustl.edu 37 9 111674625 111674625 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 111674625 111674625 C T SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.1108 p.A370T 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 97 0 0 77 5 6.09756 MUSK 0 genome.wustl.edu 37 9 113445033 113445033 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 113445033 113445033 C A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known silent c.159 p.S53 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 142 0 0 121 37 23.4177 C9orf84 0 genome.wustl.edu 37 9 114484788 114484788 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 114484788 114484788 G T SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.1840 p.L614I 0.001 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 68 0 0 64 6 8.57143 ZNF618 0 genome.wustl.edu 37 9 116812114 116812114 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 116812114 116812114 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.2532 p.A844 0.762 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 147 0 0 118 20 14.4928 ZNF618 0 genome.wustl.edu 37 9 116812464 116812464 + RNA SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 116812464 116812464 A G SNP ZNF618 ENST00000470105 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF618 HGNC ENSG00000157657 116 0 0 85 13 13.2653 COL27A1 0 genome.wustl.edu 37 9 117044798 117044798 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 117044798 117044798 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.3833 p.P1278L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 16 0 0 13 3 18.75 TNC 0 genome.wustl.edu 37 9 117853180 117853180 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 117853180 117853180 T C SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.118 p.T40A 0.502 NULL 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 96 0 0 92 20 17.8571 ASTN2 0 genome.wustl.edu 37 9 120176829 120176829 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 120176829 120176829 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.388 p.R130C 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 58 0 0 60 5 7.69231 FBXW2 0 genome.wustl.edu 37 9 123550083 123550083 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 123550083 123550083 A G SNP FBXW2 ENST00000608872 human ensembl 74_37 -1 known missense c.454 p.Y152H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 66 0 0 56 9 13.8462 NR5A1 0 genome.wustl.edu 37 9 127262986 127262986 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 127262986 127262986 C T SNP NR5A1 ENST00000373588 human ensembl 74_37 -1 known missense c.253 p.A85T 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A1 HGNC ENSG00000136931 114 0 0 82 18 18 LCN2 0 genome.wustl.edu 37 9 130915419 130915419 + RNA SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 130915419 130915419 G T SNP LCN2 ENST00000494317 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LCN2 HGNC ENSG00000148346 178 1 0.558659 151 28 15.6425 TBC1D13 0 genome.wustl.edu 37 9 131559481 131559481 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 131559481 131559481 T G SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known missense c.531 p.S177R 0.624 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 106 0 0 92 14 13.2075 ASS1 0 genome.wustl.edu 37 9 133355136 133355136 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 133355136 133355136 G A SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.722 p.G241D 0.996 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 118 1 0.840336 90 15 14.2857 NTNG2 0 genome.wustl.edu 37 9 135073569 135073569 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 135073569 135073569 G A SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.430 p.G144S 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 61 0 0 44 9 16.9811 BARHL1 0 genome.wustl.edu 37 9 135458245 135458245 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 135458245 135458245 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known missense c.61 p.A21T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 131 0 0 126 10 7.35294 RALGDS 0 genome.wustl.edu 37 9 136031293 136031293 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 136031293 136031293 C T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.256 p.A86T 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 134 0 0 100 24 19.3548 DBH 0 genome.wustl.edu 37 9 136501831 136501831 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 136501831 136501831 C T SNP DBH ENST00000393056 human ensembl 74_37 +1 known missense c.338 p.A113V 1.000 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 48 0 0 34 7 17.0732 BRD3 0 genome.wustl.edu 37 9 136901431 136901431 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 136901431 136901431 G A SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known silent c.1659 p.G553 0.725 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 85 0 0 45 11 19.6429 COL5A1 0 genome.wustl.edu 37 9 137642653 137642653 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 137642653 137642653 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.1587 p.G529 0.019 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 69 0 0 44 9 16.9811 FAM69B 0 genome.wustl.edu 37 9 139616671 139616671 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 139616671 139616671 G A SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known missense c.401 p.R134Q 1.000 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 58 0 0 52 12 18.75 LCN6 0 genome.wustl.edu 37 9 139641886 139641886 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 139641886 139641886 A C SNP LCN6 ENST00000341206 human ensembl 74_37 -1 known missense c.220 p.S74A 0.172 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCN6 HGNC ENSG00000267206 72 0 0 71 7 8.97436 RABL6 0 genome.wustl.edu 37 9 139732066 139732066 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 139732066 139732066 A G SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.1081 p.R361G 0.200 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 15 0 0 10 3 23.0769 MAMDC4 0 genome.wustl.edu 37 9 139749902 139749902 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 139749902 139749902 G A SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known silent c.1302 p.P434 0.000 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 30 0 0 22 7 24.1379 EXD3 0 genome.wustl.edu 37 9 140289857 140289857 + Splice_Site SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 140289857 140289857 C A SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 0.039 - - - no_errors EXD3 HGNC ENSG00000187609 54 0 0 24 11 31.4286 CACNA1B 0 genome.wustl.edu 37 9 140777297 140777297 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 140777297 140777297 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.492 p.N164 0.235 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 360 0 0 293 34 10.3976 ZDHHC21 0 genome.wustl.edu 37 9 14674235 14674235 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 14674235 14674235 A T SNP ZDHHC21 ENST00000380916 human ensembl 74_37 -1 known missense c.104 p.V35D 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC21 HGNC ENSG00000175893 116 0 0 79 7 8.13953 FREM1 0 genome.wustl.edu 37 9 14859279 14859279 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 14859279 14859279 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.533 p.A178V 0.161 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 172 0 0 134 33 19.7605 TTC39B 0 genome.wustl.edu 37 9 15214143 15214143 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 15214143 15214143 C T SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known missense c.476 p.R159H 0.986 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 54 0 0 42 8 16 MLLT3 0 genome.wustl.edu 37 9 20622265 20622265 + RNA SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 20622265 20622265 C G SNP MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC ENSG00000171843 45 0 0 34 7 17.0732 TEK 0 genome.wustl.edu 37 9 27204916 27204916 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 27204916 27204916 G A SNP TEK ENST00000380036 human ensembl 74_37 +1 known silent c.2217 p.A739 0.000 superfamily_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 224 0 0 165 24 12.6984 IFNK 0 genome.wustl.edu 37 9 27524595 27524595 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 27524595 27524595 C A SNP IFNK ENST00000276943 human ensembl 74_37 +1 known missense c.261 p.F87L 0.560 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNK HGNC ENSG00000147896 186 0 0 126 29 18.7097 TOPORS 0 genome.wustl.edu 37 9 32550787 32550787 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 32550787 32550787 C T SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known silent c.183 p.A61 0.076 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 82 0 0 67 16 19.2771 UNC13B 0 genome.wustl.edu 37 9 35396854 35396854 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 35396854 35396854 G A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.3205 p.V1069M 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 358 0 0 288 62 17.7143 OR13J1 0 genome.wustl.edu 37 9 35869700 35869700 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 35869700 35869700 C A SNP OR13J1 ENST00000377981 human ensembl 74_37 -1 known missense c.699 p.R233S 0.764 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13J1 HGNC ENSG00000168828 70 0 0 45 14 23.7288 FRMPD1 0 genome.wustl.edu 37 9 37740128 37740128 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 37740128 37740128 G A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.1603 p.V535I 0.165 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 154 0 0 130 28 17.7215 DOCK8 0 genome.wustl.edu 37 9 429720 429720 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 429720 429720 G A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.4492 p.E1498K 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 101 0 0 71 14 16.4706 TJP2 0 genome.wustl.edu 37 9 71836320 71836320 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 71836320 71836320 G A SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.953 p.R318H 0.995 superfamily_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 15 0 0 12 4 25 APBA1 0 genome.wustl.edu 37 9 72046264 72046264 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 72046264 72046264 C A SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.2493 p.Q831H 1.000 superfamily_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 215 0 0 153 33 17.7419 TMEM2 0 genome.wustl.edu 37 9 74360375 74360375 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 74360375 74360375 G A SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.593 p.S198F 1.000 pfam_G8_domain pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 174 0 0 138 26 15.8537 RORB 0 genome.wustl.edu 37 9 77275630 77275630 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 77275630 77275630 A C SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.768 p.E256D 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ROR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 98 0 0 84 12 12.5 TRPM6 0 genome.wustl.edu 37 9 77415342 77415342 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 77415342 77415342 C T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.2066 p.R689H 0.935 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 96 0 0 86 6 6.52174 PRUNE2 0 genome.wustl.edu 37 9 79469112 79469112 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 79469112 79469112 G A SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.49 p.R17C 0.998 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 38 0 0 32 4 11.1111 SPATA31D1 0 genome.wustl.edu 37 9 84608351 84608351 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 84608351 84608351 T G SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2966 p.V989G 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 286 0 0 212 39 15.5378 ZNF169 0 genome.wustl.edu 37 9 97062645 97062645 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 97062645 97062645 C T SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.805 p.R269C 0.705 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 ZNF169 HGNC ENSG00000175787 111 0 0 90 22 19.6429 FBP2 0 genome.wustl.edu 37 9 97349699 97349699 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 97349699 97349699 C T SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known missense c.223 p.D75N 1.000 pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 305 0 0 229 53 18.7943 ERCC6L2 0 genome.wustl.edu 37 9 98643499 98643499 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 98643499 98643499 G A SNP ERCC6L2 ENST00000288985 human ensembl 74_37 +1 novel missense c.428 p.R143Q 0.996 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 65 0 0 49 13 20.9677 CSTF2 0 genome.wustl.edu 37 X 100078882 100078882 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 100078882 100078882 T C SNP CSTF2 ENST00000415585 human ensembl 74_37 +1 known missense c.452 p.V151A 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 112 0 0 92 17 15.5963 DRP2 0 genome.wustl.edu 37 X 100515504 100515504 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 100515504 100515504 G A SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.2768 p.S923N 1.000 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 200 0 0 155 37 19.2708 NXF4 0 genome.wustl.edu 37 X 101818384 101818384 + RNA SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 101818384 101818384 T C SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.473 - - - no_errors NXF4 HGNC ENSG00000196970 84 0 0 59 20 25.3165 GPRASP2 0 genome.wustl.edu 37 X 101969892 101969892 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 101969892 101969892 T C SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.95 p.V32A 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 210 0 0 156 29 15.6757 NRK 0 genome.wustl.edu 37 X 105178281 105178281 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 105178281 105178281 C T SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.3347 p.A1116V 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 116 0 0 89 19 17.5926 NRK 0 genome.wustl.edu 37 X 105179301 105179301 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 105179301 105179301 C T SNP NRK ENST00000428173 human ensembl 74_37 +1 known silent c.3642 p.C1214 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 54 0 0 37 6 13.9535 MUM1L1 0 genome.wustl.edu 37 X 105451074 105451074 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 105451074 105451074 A G SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1649 p.D550G 0.996 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 27 0 0 18 7 28 TBC1D8B 0 genome.wustl.edu 37 X 106070528 106070528 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 106070528 106070528 C T SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known silent c.1164 p.C388 0.877 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 172 0 0 126 21 14.2857 MORC4 0 genome.wustl.edu 37 X 106236537 106236537 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 106236537 106236537 C A SNP MORC4 ENST00000355610 human ensembl 74_37 -1 known missense c.231 p.E77D 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 84 0 0 53 16 23.1884 COL4A6 0 genome.wustl.edu 37 X 107448667 107448667 + Splice_Site SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 107448667 107448667 A G SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known splice_site c.690+2 e11+2 1.000 - - - no_errors COL4A6 HGNC ENSG00000197565 346 0 0 290 34 10.4938 CAPN6 0 genome.wustl.edu 37 X 110494317 110494317 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 110494317 110494317 T G SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.986 p.D329A 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 518 0 0 448 50 10.0402 ALG13 0 genome.wustl.edu 37 X 111002996 111002996 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 111002996 111002996 T G SNP ALG13 ENST00000251943 human ensembl 74_37 +1 known silent c.2634 p.P878 0.979 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 35 0 0 31 4 11.4286 CXorf56 0 genome.wustl.edu 37 X 118694234 118694234 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 118694234 118694234 C T SNP CXorf56 ENST00000371594 human ensembl 74_37 -1 known missense c.239 p.R80Q 1.000 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 178 0 0 159 31 16.3158 C1GALT1C1 0 genome.wustl.edu 37 X 119760212 119760212 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 119760212 119760212 A C SNP C1GALT1C1 ENST00000304661 human ensembl 74_37 -1 known missense c.810 p.C270W 0.993 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 158 0 0 118 22 15.7143 CT47B1 0 genome.wustl.edu 37 X 120009089 120009089 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 120009089 120009089 G A SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.436 p.R146C 0.002 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 190 0 0 157 23 12.7778 GLUD2 0 genome.wustl.edu 37 X 120182522 120182522 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 120182522 120182522 T C SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known silent c.984 p.I328 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 311 0 0 237 57 19.3878 STAG2 0 genome.wustl.edu 37 X 123196831 123196831 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 123196831 123196831 A G SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.1718 p.Q573R 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 69 0 0 50 10 16.6667 STAG2 0 genome.wustl.edu 37 X 123217382 123217382 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 123217382 123217382 A G SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known silent c.3036 p.R1012 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 103 0 0 91 10 9.90099 TENM1 0 genome.wustl.edu 37 X 123775719 123775719 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 123775719 123775719 A T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1999 p.S667T 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 346 1 0.288184 284 35 10.9718 TENM1 0 genome.wustl.edu 37 X 123775729 123775729 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 123775729 123775729 T G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1989 p.Q663H 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 364 0 0 305 36 10.5572 ZDHHC9 0 genome.wustl.edu 37 X 128944952 128944952 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 128944952 128944952 G A SNP ZDHHC9 ENST00000357166 human ensembl 74_37 -1 known missense c.907 p.P303S 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC9 HGNC ENSG00000188706 114 0 0 92 21 18.5841 ZNF280C 0 genome.wustl.edu 37 X 129380885 129380885 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 129380885 129380885 G A SNP ZNF280C ENST00000370978 human ensembl 74_37 -1 known silent c.126 p.D42 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 317 0 0 266 60 18.4049 DDX26B 0 genome.wustl.edu 37 X 134703344 134703344 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 134703344 134703344 A G SNP DDX26B ENST00000370752 human ensembl 74_37 +1 known silent c.1275 p.P425 0.914 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 109 0 0 110 16 12.6984 MAP7D3 0 genome.wustl.edu 37 X 135314039 135314039 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 135314039 135314039 G A SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.1023 p.D341 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 154 0 0 140 22 13.5802 FGF13 0 genome.wustl.edu 37 X 137715071 137715071 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 137715071 137715071 G T SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.708 p.S236R 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 209 0 0 170 37 17.8744 SOX3 0 genome.wustl.edu 37 X 139586596 139586596 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 139586596 139586596 C T SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known silent c.630 p.P210 1.000 pfam_TF_SOX,superfamily_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 99 0 0 61 22 26.506 MAGEC3 0 genome.wustl.edu 37 X 140953283 140953283 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 140953283 140953283 C A SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.150 p.D50E 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 119 0 0 119 18 13.1387 CSF2RA 0 genome.wustl.edu 37 X 1413263 1413263 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 1413263 1413263 C T SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.689 p.T230M 0.000 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 283 0 0 188 44 18.9655 MAGEA3 0 genome.wustl.edu 37 X 151935622 151935622 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 151935622 151935622 A G SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.545 p.L182P 0.032 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 129 0 0 62 45 42.0561 NSDHL 0 genome.wustl.edu 37 X 152018835 152018835 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 152018835 152018835 C A SNP NSDHL ENST00000370274 human ensembl 74_37 +1 known silent c.135 p.G45 0.968 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 255 0 0 218 45 17.1103 ZNF275 0 genome.wustl.edu 37 X 152612686 152612686 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 152612686 152612686 C T SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known silent c.633 p.F211 0.317 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 ZNF275 HGNC ENSG00000063587 113 0 0 81 11 11.9565 BGN 0 genome.wustl.edu 37 X 152770093 152770093 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 152770093 152770093 T C SNP BGN ENST00000331595 human ensembl 74_37 +1 known missense c.4 p.W2R 0.001 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC ENSG00000182492 59 0 0 52 7 11.8644 PDZD4 0 genome.wustl.edu 37 X 153073995 153073995 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 153073995 153073995 C T SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known missense c.116 p.R39H 0.998 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 31 0 0 24 5 17.2414 FLNA 0 genome.wustl.edu 37 X 153596212 153596212 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 153596212 153596212 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.620 p.P207L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 FLNA HGNC ENSG00000196924 75 0 0 42 10 19.2308 TAZ 0 genome.wustl.edu 37 X 153640245 153640245 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 153640245 153640245 G A SNP TAZ ENST00000299328 human ensembl 74_37 +1 known missense c.65 p.S22N 0.984 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,prints_Tafazzin - no_errors TAZ HGNC ENSG00000102125 32 0 0 28 9 24.3243 BEND2 0 genome.wustl.edu 37 X 18189251 18189251 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 18189251 18189251 G A SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known silent c.2055 p.C685 0.009 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 154 0 0 134 24 15.1899 KLHL34 0 genome.wustl.edu 37 X 21674964 21674964 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 21674964 21674964 C T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known missense c.943 p.E315K 0.082 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 25 0 0 21 4 16 PPP2R3B 0 genome.wustl.edu 37 X 322220 322220 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 322220 322220 C T SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.430 p.V144I 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 107 0 0 91 5 5.20833 MXRA5 0 genome.wustl.edu 37 X 3228137 3228137 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 3228137 3228137 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.8107 p.V2703M 0.429 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 95 0 0 69 12 14.8148 MXRA5 0 genome.wustl.edu 37 X 3242753 3242753 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 3242753 3242753 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.973 p.E325K 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 73 0 0 62 13 17.3333 DDX3X 0 genome.wustl.edu 37 X 41203054 41203054 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 41203054 41203054 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known silent c.744 p.G248 0.227 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 88 0 0 69 9 11.5385 OTUD5 0 genome.wustl.edu 37 X 48781133 48781133 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 48781133 48781133 G A SNP OTUD5 ENST00000156084 human ensembl 74_37 -1 known missense c.1475 p.A492V 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD5 HGNC ENSG00000068308 43 0 0 37 3 7.5 TFE3 0 genome.wustl.edu 37 X 48887806 48887806 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 48887806 48887806 C G SNP TFE3 ENST00000315869 human ensembl 74_37 -1 known missense c.1591 p.G531R 0.453 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 70 0 0 76 16 17.3913 PPP1R3F 0 genome.wustl.edu 37 X 49127204 49127204 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 49127204 49127204 C T SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.872 p.P291L 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 16 0 0 11 4 26.6667 HUWE1 0 genome.wustl.edu 37 X 53574996 53574996 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 53574996 53574996 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10274 p.S3425N 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 33 0 0 27 5 15.625 FAM120C 0 genome.wustl.edu 37 X 54107839 54107839 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 54107839 54107839 A G SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.2894 p.V965A 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 106 0 0 85 15 15 TSR2 0 genome.wustl.edu 37 X 54470537 54470537 + Nonsense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 54470537 54470537 A T SNP TSR2 ENST00000375151 human ensembl 74_37 +1 known nonsense c.361 p.K121* 0.000 NULL pfam_Pre-rRNA_process_TSR2 - no_errors TSR2 HGNC ENSG00000158526 172 0 0 130 20 13.3333 ITIH6 0 genome.wustl.edu 37 X 54815025 54815025 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 54815025 54815025 A T SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.674 p.I225N 0.894 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 65 0 0 49 18 26.8657 ALAS2 0 genome.wustl.edu 37 X 55047483 55047483 + Splice_Site SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 55047483 55047483 A G SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known splice_site c.638+2 e4+2 1.000 - - - no_errors ALAS2 HGNC ENSG00000158578 69 0 0 54 13 19.403 RRAGB 0 genome.wustl.edu 37 X 55757850 55757850 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 55757850 55757850 G T SNP RRAGB ENST00000262850 human ensembl 74_37 +1 known missense c.431 p.R144L 1.000 pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGB HGNC ENSG00000083750 37 0 0 31 3 8.82353 ZXDA 0 genome.wustl.edu 37 X 57936033 57936033 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 57936033 57936033 G A SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known silent c.822 p.C274 0.807 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 31 0 0 28 7 20 NLGN4X 0 genome.wustl.edu 37 X 6069136 6069136 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 6069136 6069136 C A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.372 p.L124 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 161 0 0 114 34 22.973 MTMR8 0 genome.wustl.edu 37 X 63579408 63579408 + Splice_Site SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 63579408 63579408 C G SNP MTMR8 ENST00000374852 human ensembl 74_37 -1 known splice_site c.25-1 e2-1 1.000 - - - no_errors MTMR8 HGNC ENSG00000102043 103 0 0 61 11 15.2778 OPHN1 0 genome.wustl.edu 37 X 67430049 67430049 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 67430049 67430049 A G SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.778 p.C260R 0.945 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 105 0 0 91 25 21.5517 IGBP1 0 genome.wustl.edu 37 X 69354476 69354476 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 69354476 69354476 C T SNP IGBP1 ENST00000342206 human ensembl 74_37 +1 known missense c.292 p.R98C 1.000 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 97 0 0 90 14 13.4615 ZDHHC15 0 genome.wustl.edu 37 X 74641702 74641702 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 74641702 74641702 G T SNP ZDHHC15 ENST00000373367 human ensembl 74_37 -1 known missense c.860 p.S287Y 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 107 0 0 87 18 17.1429 ATRX 0 genome.wustl.edu 37 X 76938509 76938509 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 76938509 76938509 T C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.2239 p.S747G 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 325 0 0 263 63 19.3252 KAL1 0 genome.wustl.edu 37 X 8522076 8522076 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 8522076 8522076 C T SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.1271 p.R424Q 0.059 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 50 0 0 44 8 15.3846 PCDH19 0 genome.wustl.edu 37 X 99551740 99551740 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 99551740 99551740 A G SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.2982 p.S994 0.996 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 137 0 0 97 22 18.4874 PCDH19 0 genome.wustl.edu 37 X 99662844 99662844 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 99662844 99662844 G T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known nonsense c.752 p.S251* 1.000 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 PCDH19 HGNC ENSG00000165194 223 0 0 186 28 13.0841 NMNAT1 0 genome.wustl.edu 37 1 10042384 10042385 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 10042384 10042385 - G INS NMNAT1 ENST00000377205 human ensembl 74_37 +1 known frame_shift_ins c.465_466 p.A156fs 0.998:1.000 pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT1 HGNC ENSG00000173614 212 0 0 157 27 14.6739 SLC16A1 0 genome.wustl.edu 37 1 113471889 113471890 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 113471889 113471890 - G INS SLC16A1 ENST00000369626 human ensembl 74_37 -1 known frame_shift_ins c.42_41 p.D15fs 1.000:1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 76 0 0 49 9 15.5172 DENND2C 0 genome.wustl.edu 37 1 115165628 115165628 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 115165628 115165628 T - DEL DENND2C ENST00000393274 human ensembl 74_37 -1 known frame_shift_del c.1036 p.S346fs 0.987 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 139 0 0 135 22 14.0127 SYCP1 0 genome.wustl.edu 37 1 115469134 115469134 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 115469134 115469134 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.1876 p.G629fs 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 13 0 0 8 3 27.2727 MTMR11 0 genome.wustl.edu 37 1 149900986 149900988 + RNA DEL AAA AAA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 149900986 149900988 AAA - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003 - - - no_errors MTMR11 HGNC ENSG00000014914 54 0 0 39 7 15.2174 TRIM46 0 genome.wustl.edu 37 1 155152178 155152179 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 155152178 155152179 - C INS TRIM46 ENST00000334634 human ensembl 74_37 +1 known frame_shift_ins c.1356_1357 p.H454fs 1.000:1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 62 0 0 44 13 22.807 MRPL24 0 genome.wustl.edu 37 1 156708445 156708445 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 156708445 156708445 G - DEL MRPL24 ENST00000361531 human ensembl 74_37 -1 known frame_shift_del c.52 p.H18fs 0.034 NULL pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 126 0 0 101 18 15.1261 IGSF9 0 genome.wustl.edu 37 1 159912846 159912846 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 159912846 159912846 G - DEL IGSF9 ENST00000368094 human ensembl 74_37 -1 known frame_shift_del c.154 p.L52fs 0.980 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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 75 0 0 48 9 15.7895 NAV1 0 genome.wustl.edu 37 1 201618272 201618272 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 201618272 201618272 C - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known frame_shift_del c.476 p.L161fs 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 34 0 0 31 10 24.3902 NAV1 0 genome.wustl.edu 37 1 201750218 201750218 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 201750218 201750218 A - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known frame_shift_del c.1444 p.K483fs 0.001 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 159 0 0 133 29 17.9012 CR2 0 genome.wustl.edu 37 1 207641844 207641844 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 207641844 207641844 T - DEL CR2 ENST00000485707 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors CR2 HGNC ENSG00000117322 49 0 0 53 7 11.6667 CD34 0 genome.wustl.edu 37 1 208063101 208063102 + Frame_Shift_Del DEL AA AA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 208063101 208063102 AA - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82_81 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 35 0 0 28 5 15.1515 MUL1 0 genome.wustl.edu 37 1 20827876 20827877 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 20827876 20827877 - T INS MUL1 ENST00000264198 human ensembl 74_37 -1 known frame_shift_ins c.366_365 p.N122fs 1.000:1.000 pfam_MULAN pfam_MULAN,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 118 0 0 106 23 17.8295 GPATCH2 0 genome.wustl.edu 37 1 217793263 217793264 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 217793263 217793264 - T INS GPATCH2 ENST00000366935 human ensembl 74_37 -1 known frame_shift_ins c.635_634 p.R212fs 1.000:1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 159 0 0 123 17 12.1429 DUSP10 0 genome.wustl.edu 37 1 221875662 221875663 + RNA DEL AA AA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 221875662 221875663 AA - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.067 - - - no_errors DUSP10 HGNC ENSG00000143507 51 0 0 40 13 24.5283 OBSCN 0 genome.wustl.edu 37 1 228559450 228559450 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 228559450 228559450 G - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.20971 p.A6993fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 65 0 0 52 13 20 SPHAR 0 genome.wustl.edu 37 1 229440936 229440936 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 229440936 229440936 T - DEL SPHAR ENST00000366688 human ensembl 74_37 +1 known frame_shift_del c.55 p.Y21fs 0.001 NULL NULL - no_errors SPHAR HGNC ENSG00000213029 46 0 0 55 7 11.2903 LYPLA2 0 genome.wustl.edu 37 1 24120833 24120833 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 24120833 24120833 C - DEL LYPLA2 ENST00000374502 human ensembl 74_37 +1 known frame_shift_del c.489 p.A166fs 0.001 NULL pfam_PLipase/COase/thioEstase,pfam_AB_hydrolase_3 - no_errors LYPLA2 HGNC ENSG00000011009 41 0 0 21 6 22.2222 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.308 p.F105fs 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 78 0 0 69 12 14.8148 SH3BGRL3 0 genome.wustl.edu 37 1 26607440 26607440 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 26607440 26607440 G - DEL SH3BGRL3 ENST00000319041 human ensembl 74_37 +1 known frame_shift_del c.233 p.G80fs 0.000 NULL pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL3 HGNC ENSG00000142669 25 0 0 30 3 9.09091 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 159 1 0.625 123 35 22.1519 SYTL1 0 genome.wustl.edu 37 1 27680355 27680356 + RNA DEL CT CT - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 27680355 27680356 CT - DEL SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 60 0 0 51 4 7.27273 ACTRT2 0 genome.wustl.edu 37 1 2939156 2939156 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 2939156 2939156 G - DEL ACTRT2 ENST00000378404 human ensembl 74_37 +1 known frame_shift_del c.906 p.G304fs 0.003 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 140 0 0 103 18 14.876 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475027 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 36475027 36475027 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 21 0 0 22 8 26.6667 MAP7D1 0 genome.wustl.edu 37 1 36636763 36636764 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 36636763 36636764 - C INS MAP7D1 ENST00000373151 human ensembl 74_37 +1 known frame_shift_ins c.238_239 p.Q83fs 0.034:0.008 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 111 0 0 107 11 9.32203 MACF1 0 genome.wustl.edu 37 1 39785384 39785385 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 39785384 39785385 - A INS MACF1 ENST00000317713 human ensembl 74_37 +1 known frame_shift_ins c.4009_4010 p.F1339fs 1.000:1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 74 0 0 43 15 25.8621 MYSM1 0 genome.wustl.edu 37 1 59156023 59156023 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 59156023 59156023 T - DEL MYSM1 ENST00000472487 human ensembl 74_37 -1 known frame_shift_del c.285 p.K95fs 0.822 NULL pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 50 0 0 27 6 18.1818 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 46 0 0 52 6 10.3448 LRRIQ3 0 genome.wustl.edu 37 1 74575213 74575213 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 74575213 74575213 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.732 p.K244fs 0.004 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 128 0 0 140 16 10.2564 TTLL7 0 genome.wustl.edu 37 1 84383310 84383310 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 84383310 84383310 T - DEL TTLL7 ENST00000260505 human ensembl 74_37 -1 known frame_shift_del c.1564 p.T522fs 0.933 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 85 0 0 72 12 14.2857 DNASE2B 0 genome.wustl.edu 37 1 84864322 84864322 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 84864322 84864322 G - DEL DNASE2B ENST00000370665 human ensembl 74_37 +1 known frame_shift_del c.75 p.A27fs 0.004 pfam_DNase_II pfam_DNase_II - no_errors DNASE2B HGNC ENSG00000137976 336 0 0 317 47 12.9121 ZNF644 0 genome.wustl.edu 37 1 91406040 91406040 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 91406040 91406040 T - DEL ZNF644 ENST00000337393 human ensembl 74_37 -1 known frame_shift_del c.871 p.R291fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 71 0 0 76 8 9.52381 EVI5 0 genome.wustl.edu 37 1 93073081 93073081 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 93073081 93073081 A - DEL EVI5 ENST00000492513 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EVI5 HGNC ENSG00000067208 17 0 0 14 6 30 EVI5 0 genome.wustl.edu 37 1 93169000 93169000 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 93169000 93169000 A - DEL EVI5 ENST00000543509 human ensembl 74_37 -1 known frame_shift_del c.648 p.F216fs 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 87 0 0 81 12 12.9032 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 75 0 0 68 11 13.9241 PIK3CD 0 genome.wustl.edu 37 1 9776037 9776037 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 1 9776037 9776037 C - DEL PIK3CD ENST00000536656 human ensembl 74_37 +1 known frame_shift_del c.501 p.L169fs 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 29 0 0 24 5 17.2414 CNNM1 0 genome.wustl.edu 37 10 101089318 101089318 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 101089318 101089318 G - DEL CNNM1 ENST00000356713 human ensembl 74_37 +1 known frame_shift_del c.174 p.G60fs 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 14 0 0 11 3 21.4286 PAX2 0 genome.wustl.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 102587324 102587324 C - DEL PAX2 ENST00000428433 human ensembl 74_37 +1 known frame_shift_del c.1202 p.R403fs 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 128 0 0 115 16 12.2137 NOLC1 0 genome.wustl.edu 37 10 103919299 103919299 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 103919299 103919299 A - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_del c.863 p.K290fs 0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 77 0 0 69 5 6.75676 ATRNL1 0 genome.wustl.edu 37 10 116930893 116930893 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 116930893 116930893 A - DEL ATRNL1 ENST00000355044 human ensembl 74_37 +1 known frame_shift_del c.1191 p.T399fs 1.000 pfam_Kelch_2 pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 136 0 0 141 15 9.61538 UPF2 0 genome.wustl.edu 37 10 12071011 12071011 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 12071011 12071011 T - DEL UPF2 ENST00000356352 human ensembl 74_37 -1 known frame_shift_del c.878 p.N293fs 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 79 0 0 69 5 6.75676 OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 172 1 0.578035 158 30 15.9574 CCDC3 0 genome.wustl.edu 37 10 12940430 12940431 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 12940430 12940431 - G INS CCDC3 ENST00000378825 human ensembl 74_37 -1 known frame_shift_ins c.799_798 p.Y266fs 0.987:0.964 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 47 0 0 41 7 14.5833 GLRX3 0 genome.wustl.edu 37 10 131958325 131958325 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 131958325 131958325 T - DEL GLRX3 ENST00000331244 human ensembl 74_37 +1 known frame_shift_del c.268 p.F91fs 1.000 pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel - no_errors GLRX3 HGNC ENSG00000108010 198 0 0 134 19 12.4183 PFKP 0 genome.wustl.edu 37 10 3149418 3149418 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 3149418 3149418 A - DEL PFKP ENST00000381125 human ensembl 74_37 +1 known frame_shift_del c.787 p.R265fs 0.989 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 78 0 0 82 16 16.3265 C10orf68 0 genome.wustl.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 33018277 33018277 A - DEL C10orf68 ENST00000375025 human ensembl 74_37 +1 known frame_shift_del c.718 p.K242fs 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 63 0 0 55 7 11.2903 C10orf71 0 genome.wustl.edu 37 10 50530930 50530930 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 50530930 50530930 A - DEL C10orf71 ENST00000374144 human ensembl 74_37 +1 known frame_shift_del c.340 p.T115fs 0.942 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 199 0 0 127 15 10.5634 PCDH15 0 genome.wustl.edu 37 10 55569132 55569132 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 55569132 55569132 T - DEL PCDH15 ENST00000395445 human ensembl 74_37 -1 novel frame_shift_del c.4678 p.R1560fs 0.677 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 129 0 0 114 21 15.5556 ENSG00000232807 0 genome.wustl.edu 37 10 5979048 5979049 + RNA DEL CT CT - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 5979048 5979049 CT - DEL ENSG00000232807 ENST00000397264 human ensembl 74_37 -1 known rna NULL NULL 0.009:0.000 - - - no_errors RP11-536K7.3 Clone_based_vega_gene ENSG00000232807 58 0 0 41 10 19.6078 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 53 0 0 38 8 17.3913 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 48 0 0 33 12 26.6667 KAT6B 0 genome.wustl.edu 37 10 76741703 76741703 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 76741703 76741703 A - DEL KAT6B ENST00000490365 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors KAT6B HGNC ENSG00000156650 48 0 0 43 10 18.8679 KIN 0 genome.wustl.edu 37 10 7820854 7820854 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 7820854 7820854 T - DEL KIN ENST00000379562 human ensembl 74_37 -1 known frame_shift_del c.505 p.T169fs 1.000 pfam_DNA/RNA-bd_Kin17_cons_domain pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 287 0 0 249 52 17.2757 ZMIZ1 0 genome.wustl.edu 37 10 81067245 81067245 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 81067245 81067245 C - DEL ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known frame_shift_del c.2752 p.Q920fs 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 80 0 0 47 10 17.5439 SLC16A12 0 genome.wustl.edu 37 10 91203598 91203598 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 10 91203598 91203598 A - DEL SLC16A12 ENST00000371790 human ensembl 74_37 -1 known frame_shift_del c.219 p.F73fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 51 0 0 51 7 12.069 DLAT 0 genome.wustl.edu 37 11 111904183 111904183 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 111904183 111904183 A - DEL DLAT ENST00000280346 human ensembl 74_37 +1 known frame_shift_del c.716 p.V242fs 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_LAT1 pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 89 0 0 80 17 17.5258 CEP164 0 genome.wustl.edu 37 11 117222648 117222648 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 117222648 117222648 A - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_del c.337 p.K116fs 1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 42 0 0 29 13 30.9524 DPAGT1 0 genome.wustl.edu 37 11 118969143 118969143 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 118969143 118969143 A - DEL DPAGT1 ENST00000354202 human ensembl 74_37 -1 known frame_shift_del c.698 p.F233fs 1.000 pfam_Glycosyl_transferase_4 pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 176 0 0 140 19 11.9497 PLEKHA7 0 genome.wustl.edu 37 11 16822525 16822525 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 16822525 16822525 A - DEL PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known frame_shift_del c.2405 p.F802fs 0.999 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 288 2 0.689655 237 34 12.5461 PIK3C2A 0 genome.wustl.edu 37 11 17190949 17190949 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 17190949 17190949 T - DEL PIK3C2A ENST00000265970 human ensembl 74_37 -1 known frame_shift_del c.340 p.T114fs 0.984 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 168 0 0 159 9 5.35714 USH1C 0 genome.wustl.edu 37 11 17518325 17518326 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 17518325 17518326 - G INS USH1C ENST00000005226 human ensembl 74_37 -1 known frame_shift_ins c.2526_2525 p.E844fs 1.000:1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 85 0 0 70 10 12.5 SAAL1 0 genome.wustl.edu 37 11 18108472 18108473 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 18108472 18108473 - A INS SAAL1 ENST00000524803 human ensembl 74_37 -1 known frame_shift_ins c.983_982 p.S328fs 1.000:0.995 NULL superfamily_ARM-type_fold - no_errors SAAL1 HGNC ENSG00000166788 95 0 0 67 20 22.9885 PTPN5 0 genome.wustl.edu 37 11 18751285 18751286 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 18751285 18751286 - G INS PTPN5 ENST00000358540 human ensembl 74_37 -1 known frame_shift_ins c.1410_1409 p.L471fs 0.951:1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 108 0 0 84 13 13.4021 MRGPRX1 0 genome.wustl.edu 37 11 18955772 18955772 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 18955772 18955772 A - DEL MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known frame_shift_del c.560 p.L187fs 0.237 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 68 0 0 58 15 20.5479 FANCF 0 genome.wustl.edu 37 11 22647044 22647044 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 22647044 22647044 C - DEL FANCF ENST00000327470 human ensembl 74_37 -1 known frame_shift_del c.313 p.D105fs 0.000 NULL NULL - no_errors FANCF HGNC ENSG00000183161 242 0 0 168 14 7.69231 FAM160A2 0 genome.wustl.edu 37 11 6238994 6238994 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 6238994 6238994 C - DEL FAM160A2 ENST00000265978 human ensembl 74_37 -1 known frame_shift_del c.1864 p.E622fs 0.962 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 33 0 0 17 10 37.037 RASGRP2 0 genome.wustl.edu 37 11 64508388 64508388 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 64508388 64508388 C - DEL RASGRP2 ENST00000377486 human ensembl 74_37 -1 putative frame_shift_del c.403 p.A135fs 0.001 NULL pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 63 0 0 56 5 8.19672 MALAT1 0 genome.wustl.edu 37 11 65270091 65270091 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 65270091 65270091 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 72 0 0 44 12 21.4286 ENSG00000245156 0 genome.wustl.edu 37 11 66039142 66039143 + RNA INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 66039142 66039143 - A INS ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.020 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 14 0 0 13 4 23.5294 RIN1 0 genome.wustl.edu 37 11 66102472 66102472 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 66102472 66102472 G - DEL RIN1 ENST00000311320 human ensembl 74_37 -1 known frame_shift_del c.798 p.V267fs 0.002 NULL pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 69 0 0 42 8 16 DCHS1 0 genome.wustl.edu 37 11 6644914 6644914 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 6644914 6644914 G - DEL DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_del c.7993 p.L2665fs 0.086 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 46 0 0 27 4 12.9032 TBC1D10C 0 genome.wustl.edu 37 11 67177175 67177175 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 67177175 67177175 C - DEL TBC1D10C ENST00000312390 human ensembl 74_37 +1 known frame_shift_del c.1291 p.R433fs 0.049 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 61 0 0 89 16 15.2381 CCDC83 0 genome.wustl.edu 37 11 85593704 85593704 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 11 85593704 85593704 A - DEL CCDC83 ENST00000280245 human ensembl 74_37 +1 known frame_shift_del c.329 p.N112fs 0.982 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 74 0 0 53 8 13.1148 SYCP3 0 genome.wustl.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 102122901 102122901 T - DEL SYCP3 ENST00000266743 human ensembl 74_37 -1 known frame_shift_del c.643 p.I215fs 0.988 NULL pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 58 0 0 47 11 18.9655 BTBD11 0 genome.wustl.edu 37 12 108011162 108011162 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 108011162 108011162 C - DEL BTBD11 ENST00000280758 human ensembl 74_37 +1 known frame_shift_del c.2180 p.Q729fs 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 124 0 0 93 13 12.2642 ACACB 0 genome.wustl.edu 37 12 109577798 109577798 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 109577798 109577798 G - DEL ACACB ENST00000338432 human ensembl 74_37 +1 known frame_shift_del c.588 p.A198fs 0.999 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 95 0 0 99 13 11.6071 WSB2 0 genome.wustl.edu 37 12 118481123 118481123 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 118481123 118481123 C - DEL WSB2 ENST00000315436 human ensembl 74_37 -1 known frame_shift_del c.242 p.G81fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 217 0 0 145 36 19.8895 COQ5 0 genome.wustl.edu 37 12 120966756 120966758 + In_Frame_Del DEL CTC CTC - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 120966756 120966758 CTC - DEL COQ5 ENST00000288532 human ensembl 74_37 -1 known in_frame_del c.189_187 p.E63in_frame_del 1.000:1.000:1.000 pfam_UbiE/COQ5_MeTrFase pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC ENSG00000110871 214 0 0 179 19 9.59596 DNAH10 0 genome.wustl.edu 37 12 124311423 124311423 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 124311423 124311423 A - DEL DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_del c.4015 p.N1340fs 1.000 pfam_Dynein_heavy_dom-2,superfamily_PyrdxlP-dep_Trfase 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 72 0 0 69 13 15.8537 NCOR2 0 genome.wustl.edu 37 12 124821593 124821593 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 124821593 124821593 G - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.5842 p.R1948fs 0.155 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 17 0 0 10 4 28.5714 NCOR2 0 genome.wustl.edu 37 12 124841250 124841251 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 124841250 124841251 - G INS NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_ins c.3200_3199 p.R1067fs 0.404:0.395 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 29 0 0 19 2 9.52381 UBC 0 genome.wustl.edu 37 12 125396267 125396267 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 125396267 125396267 C - DEL UBC ENST00000339647 human ensembl 74_37 -1 known frame_shift_del c.2051 p.G684fs 1.000 pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBC HGNC ENSG00000150991 119 1 0.833333 107 30 21.8978 FAM60A 0 genome.wustl.edu 37 12 31448178 31448178 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 31448178 31448178 T - DEL FAM60A ENST00000337682 human ensembl 74_37 -1 known frame_shift_del c.218 p.N73fs 1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 42 0 0 36 3 7.69231 LRRK2 0 genome.wustl.edu 37 12 40713870 40713870 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 40713870 40713870 A - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.4908 p.R1639fs 0.408 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 146 0 0 127 25 16.4474 ARID2 0 genome.wustl.edu 37 12 46245449 46245449 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 46245449 46245449 T - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.3543 p.F1182fs 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 123 0 0 92 14 13.2075 KCNA6 0 genome.wustl.edu 37 12 4919970 4919970 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 4919970 4919970 G - DEL KCNA6 ENST00000280684 human ensembl 74_37 +1 known frame_shift_del c.763 p.G256fs 0.865 prints_K_chnl_volt-dep_Kv1.6 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 170 1 0.584795 155 25 13.8889 KRT75 0 genome.wustl.edu 37 12 52827889 52827889 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 52827889 52827889 C - DEL KRT75 ENST00000252245 human ensembl 74_37 -1 known frame_shift_del c.200 p.G67fs 0.126 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 120 0 0 90 12 11.7647 TENC1 0 genome.wustl.edu 37 12 53453311 53453311 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 53453311 53453311 C - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.1916 p.Q641fs 0.004 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 29 0 0 25 3 10.7143 SP7 0 genome.wustl.edu 37 12 53722074 53722075 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 53722074 53722075 - G INS SP7 ENST00000303846 human ensembl 74_37 -1 known frame_shift_ins c.1152_1151 p.P385fs 0.026:0.115 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 41 0 0 40 9 18.3673 AMHR2 0 genome.wustl.edu 37 12 53824050 53824050 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 53824050 53824050 G - DEL AMHR2 ENST00000257863 human ensembl 74_37 +1 known frame_shift_del c.1409 p.W470fs 1.000 pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 196 0 0 168 21 11.1111 OR6C4 0 genome.wustl.edu 37 12 55945453 55945454 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 55945453 55945454 - G INS OR6C4 ENST00000394256 human ensembl 74_37 +1 known frame_shift_ins c.443_444 p.F151fs 0.773:0.251 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C4 HGNC ENSG00000179626 247 0 0 215 42 16.3424 STAT2 0 genome.wustl.edu 37 12 56744034 56744034 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 56744034 56744034 A - DEL STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors STAT2 HGNC ENSG00000170581 60 0 0 47 19 28.7879 MBD6 0 genome.wustl.edu 37 12 57920934 57920934 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 57920934 57920934 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2006 p.P671fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 36 0 0 36 4 10 AVPR1A 0 genome.wustl.edu 37 12 63541343 63541343 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 63541343 63541343 A - DEL AVPR1A ENST00000299178 human ensembl 74_37 -1 known frame_shift_del c.1053 p.F351fs 0.998 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 132 0 0 118 14 10.6061 XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_del c.370 p.F126fs 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 134 0 0 127 24 15.894 HELB 0 genome.wustl.edu 37 12 66704208 66704208 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 66704208 66704208 A - DEL HELB ENST00000247815 human ensembl 74_37 +1 known frame_shift_del c.1500 p.A503fs 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 109 0 0 89 11 11 E2F7 0 genome.wustl.edu 37 12 77419716 77419717 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 77419716 77419717 - G INS E2F7 ENST00000322886 human ensembl 74_37 -1 known frame_shift_ins c.2187_2186 p.T730fs 0.000:0.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 52 0 0 40 7 14.8936 EEA1 0 genome.wustl.edu 37 12 93213103 93213103 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 12 93213103 93213103 T - DEL EEA1 ENST00000322349 human ensembl 74_37 -1 known frame_shift_del c.1709 p.N570fs 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 87 0 0 84 14 14.2857 TM9SF2 0 genome.wustl.edu 37 13 100181813 100181814 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 100181813 100181814 - A INS TM9SF2 ENST00000376387 human ensembl 74_37 +1 known frame_shift_ins c.426_427 p.S144fs 1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 93 0 0 83 22 20.9524 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 28 0 0 26 6 18.75 ANKRD20A19P 0 genome.wustl.edu 37 13 24515468 24515468 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 24515468 24515468 T - DEL ANKRD20A19P ENST00000420143 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors ANKRD20A19P HGNC ENSG00000196593 189 0 0 156 15 8.77193 WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 27255387 27255387 C - DEL WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_del c.913 p.P307fs 0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 114 1 0.869565 91 21 18.75 ZC3H13 0 genome.wustl.edu 37 13 46616336 46616337 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 46616336 46616337 - G INS ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_ins c.302_301 p.Q101fs 1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 195 0 0 177 31 14.9038 LRRC63 0 genome.wustl.edu 37 13 46844471 46844471 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 46844471 46844471 G - DEL LRRC63 ENST00000446175 human ensembl 74_37 +1 known frame_shift_del c.1553 p.A520fs 0.849 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 126 0 0 109 8 6.83761 SCEL 0 genome.wustl.edu 37 13 78178491 78178491 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 78178491 78178491 A - DEL SCEL ENST00000349847 human ensembl 74_37 +1 known frame_shift_del c.1098 p.D369fs 0.997 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 105 0 0 114 18 13.6364 SLITRK1 0 genome.wustl.edu 37 13 84455508 84455509 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 84455508 84455509 - T INS SLITRK1 ENST00000377084 human ensembl 74_37 -1 known frame_shift_ins c.135_134 p.F47fs 1.000:1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 164 0 0 134 20 12.987 ABCC4 0 genome.wustl.edu 37 13 95735432 95735432 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 13 95735432 95735432 A - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.2648 p.L883fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 104 0 0 90 14 13.4615 PPP2R5C 0 genome.wustl.edu 37 14 102378891 102378891 + RNA DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 102378891 102378891 G - DEL PPP2R5C ENST00000556218 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP2R5C HGNC ENSG00000078304 39 0 0 34 7 17.0732 PPP1R13B 0 genome.wustl.edu 37 14 104208418 104208418 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 104208418 104208418 G - DEL PPP1R13B ENST00000202556 human ensembl 74_37 -1 known frame_shift_del c.1531 p.Q511fs 0.045 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 209 0 0 181 12 6.21762 OR4L1 0 genome.wustl.edu 37 14 20528881 20528881 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 20528881 20528881 A - DEL OR4L1 ENST00000315683 human ensembl 74_37 +1 known frame_shift_del c.678 p.K228fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 219 0 0 178 31 14.8325 ARHGEF40 0 genome.wustl.edu 37 14 21546604 21546604 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 21546604 21546604 G - DEL ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known frame_shift_del c.2203 p.A737fs 0.899 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 120 0 0 114 8 6.55738 ARHGEF40 0 genome.wustl.edu 37 14 21556192 21556192 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 21556192 21556192 C - DEL ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known frame_shift_del c.4453 p.H1487fs 0.081 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 138 0 0 115 18 13.5338 ZNF219 0 genome.wustl.edu 37 14 21558706 21558707 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 21558706 21558707 - C INS ZNF219 ENST00000360947 human ensembl 74_37 -1 known frame_shift_ins c.2158_2157 p.Q719fs 0.315:0.012 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt - no_errors ZNF219 HGNC ENSG00000165804 43 0 0 52 7 11.8644 IRF9 0 genome.wustl.edu 37 14 24635084 24635084 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 24635084 24635084 C - DEL IRF9 ENST00000396864 human ensembl 74_37 +1 known frame_shift_del c.1020 p.P342fs 0.271 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 57 0 0 53 11 17.1875 KIAA0391 0 genome.wustl.edu 37 14 35593160 35593160 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 35593160 35593160 A - DEL KIAA0391 ENST00000534898 human ensembl 74_37 +1 known frame_shift_del c.709 p.V239fs 0.945 NULL NULL - no_errors KIAA0391 HGNC ENSG00000100890 60 0 0 39 7 15.2174 ENSG00000258843 0 genome.wustl.edu 37 14 51290059 51290059 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 51290059 51290059 A - DEL ENSG00000258843 ENST00000555966 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-286O18.1 Clone_based_vega_gene ENSG00000258843 45 0 0 31 6 16.2162 ARID4A 0 genome.wustl.edu 37 14 58831995 58831996 + Frame_Shift_Ins INS - - AG TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 58831995 58831996 - AG INS ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_ins c.3188_3189 p.E1067fs 0.993:0.988 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 91 0 0 86 6 6.52174 PCNXL4 0 genome.wustl.edu 37 14 60591389 60591389 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 60591389 60591389 A - DEL PCNXL4 ENST00000404681 human ensembl 74_37 +1 known frame_shift_del c.2500 p.V836fs 0.009 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 252 0 0 216 31 12.5506 ZBTB1 0 genome.wustl.edu 37 14 64989787 64989787 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 64989787 64989787 A - DEL ZBTB1 ENST00000394712 human ensembl 74_37 +1 known frame_shift_del c.1565 p.K524fs 0.222 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 185 1 0.537634 155 22 12.4294 ZFP36L1 0 genome.wustl.edu 37 14 69256455 69256455 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 69256455 69256455 C - DEL ZFP36L1 ENST00000336440 human ensembl 74_37 -1 known frame_shift_del c.812 p.G271fs 0.994 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 189 0 0 149 31 17.2222 YLPM1 0 genome.wustl.edu 37 14 75230947 75230947 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 14 75230947 75230947 C - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.755 p.P254fs 0.006 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 81 0 0 80 12 13.0435 TUBGCP5 0 genome.wustl.edu 37 15 22863109 22863109 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 22863109 22863109 A - DEL TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known frame_shift_del c.2130 p.D713fs 0.957 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 132 0 0 103 18 14.876 MAGEL2 0 genome.wustl.edu 37 15 23890069 23890069 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 23890069 23890069 G - DEL MAGEL2 ENST00000532292 human ensembl 74_37 -1 known frame_shift_del c.1012 p.R338fs 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 89 0 0 91 13 12.5 SNORD115-32 0 genome.wustl.edu 37 15 25474162 25474162 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 25474162 25474162 A - DEL SNORD115-32 ENST00000364079 human ensembl 74_37 +1 known rna NULL NULL 0.941 - - - no_errors SNORD115-32 HGNC ENSG00000200949 449 0 0 378 59 13.5011 DISP2 0 genome.wustl.edu 37 15 40659686 40659686 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 40659686 40659686 C - DEL DISP2 ENST00000267889 human ensembl 74_37 +1 known frame_shift_del c.1373 p.W460fs 0.000 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 333 0 0 281 47 14.3293 UBR1 0 genome.wustl.edu 37 15 43252854 43252855 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 43252854 43252855 - T INS UBR1 ENST00000290650 human ensembl 74_37 -1 known frame_shift_ins c.4746_4745 p.N1582fs 0.742:0.838 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 28 0 0 28 4 12.5 MAP1A 0 genome.wustl.edu 37 15 43814941 43814941 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 43814941 43814941 A - DEL MAP1A ENST00000399453 human ensembl 74_37 +1 known frame_shift_del c.1270 p.K425fs 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 18 0 0 5 4 44.4444 MAP1A 0 genome.wustl.edu 37 15 43819858 43819858 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 43819858 43819858 C - DEL MAP1A ENST00000399453 human ensembl 74_37 +1 known frame_shift_del c.6187 p.R2065fs 0.638 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 52 0 0 48 7 12.7273 B2M 0 genome.wustl.edu 37 15 45003781 45003782 + Frame_Shift_Del DEL CT CT - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 45003781 45003782 CT - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.37_38 p.L15fs 0.000:0.000 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 123 0 0 83 13 13.5417 IL16 0 genome.wustl.edu 37 15 81592469 81592469 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 15 81592469 81592469 C - DEL IL16 ENST00000302987 human ensembl 74_37 +1 known frame_shift_del c.2802 p.P936fs 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 87 0 0 62 17 21.519 ENSG00000261312 0 genome.wustl.edu 37 16 19718152 19718153 + RNA INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 19718152 19718153 - A INS ENSG00000261312 ENST00000565916 human ensembl 74_37 +1 known rna NULL NULL 0.300:0.126 - - - no_errors AC002550.5 Clone_based_vega_gene ENSG00000261312 173 0 0 135 19 12.3377 LOC81691 0 genome.wustl.edu 37 16 20844363 20844363 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 20844363 20844363 T - DEL LOC81691 ENST00000261377 human ensembl 74_37 +1 known frame_shift_del c.1301 p.L436fs 0.996 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 112 0 0 96 14 12.7273 PALB2 0 genome.wustl.edu 37 16 23647028 23647028 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 23647028 23647028 T - DEL PALB2 ENST00000261584 human ensembl 74_37 -1 known frame_shift_del c.839 p.N280fs 0.001 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 170 0 0 104 19 15.4472 ZNF48 0 genome.wustl.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 30409310 30409310 C - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.739 p.R249fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 66 0 0 70 11 13.5802 BCL7C 0 genome.wustl.edu 37 16 30899222 30899223 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 30899222 30899223 - G INS BCL7C ENST00000215115 human ensembl 74_37 -1 known frame_shift_ins c.618_617 p.L207fs 1.000:1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 281 0 0 226 47 17.2161 PRSS36 0 genome.wustl.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 31151942 31151942 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2038 p.L680fs 0.448 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 25 0 0 29 8 21.6216 PPL 0 genome.wustl.edu 37 16 4944500 4944500 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 4944500 4944500 G - DEL PPL ENST00000345988 human ensembl 74_37 -1 known frame_shift_del c.1362 p.T455fs 0.933 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 80 0 0 58 8 12.1212 NAGPA 0 genome.wustl.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 5083678 5083679 GC - DEL NAGPA ENST00000312251 human ensembl 74_37 -1 known frame_shift_del c.138_137 p.R46fs 0.004:0.541 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 37 0 0 30 3 9.09091 MT1JP 0 genome.wustl.edu 37 16 56670909 56670909 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 56670909 56670909 T - DEL MT1JP ENST00000563395 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MT1JP HGNC ENSG00000255986 42 0 0 39 3 7.14286 CDH11 0 genome.wustl.edu 37 16 65026836 65026836 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 65026836 65026836 A - DEL CDH11 ENST00000268603 human ensembl 74_37 -1 known frame_shift_del c.625 p.S209fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 84 0 0 52 7 11.8644 CDH16 0 genome.wustl.edu 37 16 66945906 66945906 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 66945906 66945906 G - DEL CDH16 ENST00000299752 human ensembl 74_37 -1 known frame_shift_del c.1686 p.K563fs 0.250 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 137 0 0 108 18 14.2857 HSF4 0 genome.wustl.edu 37 16 67201666 67201666 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 67201666 67201666 G - DEL HSF4 ENST00000264009 human ensembl 74_37 +1 known frame_shift_del c.898 p.D302fs 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 23 0 0 15 5 25 TMED6 0 genome.wustl.edu 37 16 69377458 69377458 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 69377458 69377458 A - DEL TMED6 ENST00000288025 human ensembl 74_37 -1 known frame_shift_del c.575 p.F192fs 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED6 HGNC ENSG00000157315 172 1 0.578035 131 29 18.125 AP1G1 0 genome.wustl.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 16 71803440 71803440 A - DEL AP1G1 ENST00000423132 human ensembl 74_37 -1 known splice_site_del c.643-1 e6-1 0.996 - - - no_errors AP1G1 HGNC ENSG00000166747 41 0 0 39 9 18.75 MPRIP 0 genome.wustl.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 17046886 17046886 C - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.1052 p.P353fs 0.999 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 38 0 0 30 4 11.7647 MYO15A 0 genome.wustl.edu 37 17 18023293 18023293 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 18023293 18023293 C - DEL MYO15A ENST00000205890 human ensembl 74_37 +1 known frame_shift_del c.1179 p.E396fs 0.850 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 104 0 0 104 11 9.56522 MIEF2 0 genome.wustl.edu 37 17 18167276 18167277 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 18167276 18167277 - G INS MIEF2 ENST00000323019 human ensembl 74_37 +1 known frame_shift_ins c.563_564 p.A190fs 0.513:0.000 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 22 0 0 23 2 8 TAF15 0 genome.wustl.edu 37 17 34171885 34171886 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 34171885 34171886 - G INS TAF15 ENST00000588240 human ensembl 74_37 +1 known frame_shift_ins c.1582_1583 p.Y531fs 1.000:1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 114 0 0 99 17 14.6552 TADA2A 0 genome.wustl.edu 37 17 35837046 35837047 + Frame_Shift_Del DEL TA TA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 35837046 35837047 TA - DEL TADA2A ENST00000225396 human ensembl 74_37 +1 known frame_shift_del c.1291_1292 p.Y431fs 1.000:1.000 pfam_SWIRM,superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 263 0 0 256 40 13.5135 TOP2A 0 genome.wustl.edu 37 17 38546381 38546381 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 38546381 38546381 T - DEL TOP2A ENST00000423485 human ensembl 74_37 -1 known frame_shift_del c.4303 p.R1435fs 0.997 pfam_DTHCT pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 42 0 0 41 6 12.766 KRT34 0 genome.wustl.edu 37 17 39538427 39538427 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 39538427 39538427 G - DEL KRT34 ENST00000394001 human ensembl 74_37 -1 known frame_shift_del c.198 p.S67fs 0.999 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 189 1 0.526316 194 17 8.05687 BECN1 0 genome.wustl.edu 37 17 40970673 40970675 + In_Frame_Del DEL ATG ATG - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 40970673 40970675 ATG - DEL BECN1 ENST00000361523 human ensembl 74_37 -1 known in_frame_del c.377_375 p.I125in_frame_del 1.000:1.000:1.000 pfam_Beclin_fam pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 82 0 0 58 6 9.375 GPATCH8 0 genome.wustl.edu 37 17 42477205 42477207 + In_Frame_Del DEL CTT CTT - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 42477205 42477207 CTT - DEL GPATCH8 ENST00000591680 human ensembl 74_37 -1 known in_frame_del c.2240_2238 p.R749in_frame_del 0.006:0.003:0.002 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 101 0 0 66 14 17.5 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 42 0 0 30 4 11.7647 CAMTA2 0 genome.wustl.edu 37 17 4889569 4889569 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 4889569 4889569 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.18 p.S7fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 34 0 0 21 3 12.5 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 232 1 0.429185 192 30 13.5135 RNF43 0 genome.wustl.edu 37 17 56435205 56435205 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 56435205 56435205 T - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1932 p.K644fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 231 0 0 219 12 5.19481 TEX14 0 genome.wustl.edu 37 17 56663315 56663316 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 56663315 56663316 - G INS TEX14 ENST00000240361 human ensembl 74_37 -1 known frame_shift_ins c.2935_2934 p.I978fs 0.000:0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 224 0 0 173 31 15.1961 TBX2 0 genome.wustl.edu 37 17 59479233 59479234 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 59479233 59479234 - G INS TBX2 ENST00000240328 human ensembl 74_37 +1 novel frame_shift_ins c.584_585 p.E197fs 1.000:0.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 80 0 0 59 8 11.9403 TEX2 0 genome.wustl.edu 37 17 62265566 62265566 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 62265566 62265566 G - DEL TEX2 ENST00000258991 human ensembl 74_37 -1 known frame_shift_del c.2407 p.L803fs 0.957 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 122 0 0 109 10 8.40336 ABCA10 0 genome.wustl.edu 37 17 67218780 67218780 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 67218780 67218780 T - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.93 p.K31fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 131 0 0 102 17 14.2857 ENSG00000272884 0 genome.wustl.edu 37 17 7348740 7348741 + RNA INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 7348740 7348741 - G INS ENSG00000272884 ENST00000575331 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-104H15.10 Clone_based_vega_gene ENSG00000272884 40 0 0 36 6 14.2857 TNRC6C 0 genome.wustl.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 76046980 76046980 A - DEL TNRC6C ENST00000335749 human ensembl 74_37 +1 known frame_shift_del c.1837 p.N615fs 0.960 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 159 1 0.625 130 29 18.239 KDM6B 0 genome.wustl.edu 37 17 7751561 7751561 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 7751561 7751561 C - DEL KDM6B ENST00000254846 human ensembl 74_37 +1 known frame_shift_del c.1955 p.Q654fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 71 0 0 50 12 19.3548 SCARNA21 0 genome.wustl.edu 37 17 7809454 7809454 + RNA DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 7809454 7809454 G - DEL SCARNA21 ENST00000517026 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SCARNA21 HGNC ENSG00000252835 80 0 0 70 8 10.2564 ABR 0 genome.wustl.edu 37 17 970397 970397 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 17 970397 970397 G - DEL ABR ENST00000302538 human ensembl 74_37 -1 known frame_shift_del c.1102 p.Q368fs 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 58 0 0 39 6 13.3333 RBBP8 0 genome.wustl.edu 37 18 20572853 20572853 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 20572853 20572853 A - DEL RBBP8 ENST00000327155 human ensembl 74_37 +1 known frame_shift_del c.1063 p.K357fs 0.002 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 104 1 0.952381 91 18 16.5138 NPC1 0 genome.wustl.edu 37 18 21118569 21118569 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 21118569 21118569 C - DEL NPC1 ENST00000269228 human ensembl 74_37 -1 known frame_shift_del c.2978 p.G993fs 0.004 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 236 0 0 190 28 12.844 DSG4 0 genome.wustl.edu 37 18 28989503 28989505 + In_Frame_Del DEL AGA AGA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 28989503 28989505 AGA - DEL DSG4 ENST00000359747 human ensembl 74_37 +1 known in_frame_del c.2022_2024 p.E675in_frame_del 0.864:1.000:1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 174 0 0 122 24 16.4384 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 29 0 0 14 4 22.2222 DTNA 0 genome.wustl.edu 37 18 32395860 32395860 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 32395860 32395860 T - DEL DTNA ENST00000592114 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors DTNA HGNC ENSG00000134769 143 0 0 121 17 12.3188 MOCOS 0 genome.wustl.edu 37 18 33836815 33836815 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 33836815 33836815 T - DEL MOCOS ENST00000588132 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MOCOS HGNC ENSG00000075643 30 0 0 23 9 28.125 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 54358513 54358513 G - DEL WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_del c.784 p.D264fs 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 165 0 0 127 18 12.4138 ALPK2 0 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 56246440 56246440 T - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1568 p.K523fs 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 438 0 0 413 52 11.1828 SERPINB10 0 genome.wustl.edu 37 18 61584738 61584739 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 61584738 61584739 - A INS SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_ins c.217_218 p.R76fs 0.991:0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 23 0 0 25 2 7.40741 ADNP2 0 genome.wustl.edu 37 18 77894261 77894261 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 18 77894261 77894261 C - DEL ADNP2 ENST00000262198 human ensembl 74_37 +1 known frame_shift_del c.965 p.P324fs 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 126 0 0 78 16 17.0213 ZNF433 0 genome.wustl.edu 37 19 12128744 12128744 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 12128744 12128744 T - DEL ZNF433 ENST00000344980 human ensembl 74_37 -1 known frame_shift_del c.147 p.K49fs 0.040 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF433 HGNC ENSG00000197647 41 0 0 35 4 10.2564 CACNA1A 0 genome.wustl.edu 37 19 13414640 13414640 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 13414640 13414640 C - DEL CACNA1A ENST00000360228 human ensembl 74_37 -1 known frame_shift_del c.2045 p.G682fs 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 282 0 0 239 32 11.8081 CPAMD8 0 genome.wustl.edu 37 19 17081703 17081703 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 17081703 17081703 G - DEL CPAMD8 ENST00000443236 human ensembl 74_37 -1 known frame_shift_del c.2352 p.R785fs 0.962 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 54 0 0 34 5 12.8205 ZNF43 0 genome.wustl.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 21992087 21992087 T - DEL ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_del c.752 p.N251fs 0.932 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 ZNF43 HGNC ENSG00000198521 70 0 0 53 9 14.5161 LRFN3 0 genome.wustl.edu 37 19 36431074 36431074 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 36431074 36431074 C - DEL LRFN3 ENST00000246529 human ensembl 74_37 +1 known frame_shift_del c.747 p.L251fs 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 108 0 0 82 6 6.81818 ZNF569 0 genome.wustl.edu 37 19 37905171 37905171 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 37905171 37905171 A - DEL ZNF569 ENST00000316950 human ensembl 74_37 -1 known frame_shift_del c.389 p.F130fs 0.001 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 ZNF569 HGNC ENSG00000196437 82 0 0 81 15 15.625 DYRK1B 0 genome.wustl.edu 37 19 40320999 40320999 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 40320999 40320999 G - DEL DYRK1B ENST00000601972 human ensembl 74_37 -1 putative frame_shift_del c.388 p.H130fs 0.002 NULL superfamily_Kinase-like_dom - no_errors DYRK1B HGNC ENSG00000105204 72 0 0 55 11 16.6667 TGFB1 0 genome.wustl.edu 37 19 41836966 41836967 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 41836966 41836967 - T INS TGFB1 ENST00000221930 human ensembl 74_37 -1 known frame_shift_ins c.1164_1163 p.C389fs 1.000:1.000 pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta - no_errors TGFB1 HGNC ENSG00000105329 12 0 0 10 5 33.3333 GRIK5 0 genome.wustl.edu 37 19 42507742 42507742 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 42507742 42507742 C - DEL GRIK5 ENST00000301218 human ensembl 74_37 -1 known frame_shift_del c.2357 p.G786fs 1.000 pfam_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 68 0 0 65 8 10.9589 CIC 0 genome.wustl.edu 37 19 42796882 42796883 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 42796882 42796883 - C INS CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_ins c.3340_3341 p.S1117fs 1.000:0.993 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 101 0 0 88 12 12 DHX34 0 genome.wustl.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 47883158 47883160 GGA - DEL DHX34 ENST00000328771 human ensembl 74_37 +1 known in_frame_del c.2898_2900 p.E970in_frame_del 0.000:0.005:0.004 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 73 0 0 62 10 13.8889 EPN1 0 genome.wustl.edu 37 19 56203184 56203184 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 56203184 56203184 G - DEL EPN1 ENST00000411543 human ensembl 74_37 +1 known frame_shift_del c.1085 p.G364fs 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 148 0 0 124 11 8.14815 DENND1C 0 genome.wustl.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 6477251 6477251 G - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.491 p.P164fs 0.983 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 53 0 0 46 9 16.3636 MUC16 0 genome.wustl.edu 37 19 9060188 9060189 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 9060188 9060189 - G INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.27258_27257 p.G9087fs 0.000:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 223 0 0 207 22 9.60699 MUC16 0 genome.wustl.edu 37 19 9083008 9083008 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 19 9083008 9083008 T - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.8807 p.N2936fs 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 133 0 0 134 16 10.6667 EPB41L5 0 genome.wustl.edu 37 2 120836150 120836150 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 120836150 120836150 T - DEL EPB41L5 ENST00000263713 human ensembl 74_37 +1 known frame_shift_del c.796 p.W268fs 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 63 0 0 60 9 13.0435 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 40 0 0 25 7 21.875 AMER3 0 genome.wustl.edu 37 2 131521307 131521308 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 131521307 131521308 - G INS AMER3 ENST00000321420 human ensembl 74_37 +1 known frame_shift_ins c.1662_1663 p.A556fs 0.000:0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 31 0 0 22 3 12 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 119 0 0 89 32 26.4463 TPO 0 genome.wustl.edu 37 2 1507748 1507748 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 1507748 1507748 C - DEL TPO ENST00000329066 human ensembl 74_37 +1 known frame_shift_del c.2415 p.C808fs 0.002 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 82 0 0 53 13 19.697 MARCH7 0 genome.wustl.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 160604680 160604680 T - DEL MARCH7 ENST00000259050 human ensembl 74_37 +1 known frame_shift_del c.879 p.S296fs 0.910 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 81 0 0 64 17 20.9877 IFIH1 0 genome.wustl.edu 37 2 163134716 163134716 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 163134716 163134716 T - DEL IFIH1 ENST00000263642 human ensembl 74_37 -1 known frame_shift_del c.1764 p.A589fs 1.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 76 0 0 63 15 19.2308 HOXD8 0 genome.wustl.edu 37 2 176995458 176995458 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 176995458 176995458 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.364 p.C124fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 222 0 0 167 32 16.0804 COL5A2 0 genome.wustl.edu 37 2 189929324 189929324 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 189929324 189929324 C - DEL COL5A2 ENST00000374866 human ensembl 74_37 -1 known frame_shift_del c.1675 p.D559fs 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 121 0 0 88 15 14.5631 MYO1B 0 genome.wustl.edu 37 2 192257904 192257904 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 192257904 192257904 A - DEL MYO1B ENST00000304164 human ensembl 74_37 +1 known frame_shift_del c.2182 p.S730fs 0.955 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 52 0 0 59 8 11.9403 TMEFF2 0 genome.wustl.edu 37 2 192818525 192818525 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 192818525 192818525 T - DEL TMEFF2 ENST00000272771 human ensembl 74_37 -1 known frame_shift_del c.908 p.K303fs 1.000 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 95 0 0 73 11 13.0952 CCDC150 0 genome.wustl.edu 37 2 197584401 197584401 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 197584401 197584401 T - DEL CCDC150 ENST00000461825 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors CCDC150 HGNC ENSG00000144395 28 0 0 24 4 14.2857 CCDC150 0 genome.wustl.edu 37 2 197584490 197584490 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 197584490 197584490 A - DEL CCDC150 ENST00000461825 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CCDC150 HGNC ENSG00000144395 8 0 0 5 3 37.5 SF3B1 0 genome.wustl.edu 37 2 198265662 198265663 + Splice_Site INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 198265662 198265663 - A INS SF3B1 ENST00000335508 human ensembl 74_37 -1 known splice_site_ins c.2497-3_2497-2 e18-2 1.000:0.736 - - - no_errors SF3B1 HGNC ENSG00000115524 51 0 0 49 8 14.0351 CFLAR 0 genome.wustl.edu 37 2 202005127 202005128 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 202005127 202005128 - A INS CFLAR ENST00000309955 human ensembl 74_37 +1 known frame_shift_ins c.571_572 p.S193fs 0.034:0.052 NULL pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_ICE_p20 - no_errors CFLAR HGNC ENSG00000003402 150 0 0 131 20 13.245 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 85 0 0 68 11 13.9241 NRP2 0 genome.wustl.edu 37 2 206659845 206659845 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 206659845 206659845 T - DEL NRP2 ENST00000467850 human ensembl 74_37 +1 known rna NULL NULL 0.465 - - - no_errors NRP2 HGNC ENSG00000118257 9 0 0 3 3 50 INO80D 0 genome.wustl.edu 37 2 206874385 206874386 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 206874385 206874386 - G INS INO80D ENST00000403263 human ensembl 74_37 -1 known frame_shift_ins c.1676_1675 p.Q559fs 1.000:1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 102 0 0 116 16 12.1212 MAP2 0 genome.wustl.edu 37 2 210561666 210561667 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 210561666 210561667 - A INS MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_ins c.4413_4414 p.T1473fs 1.000:1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 49 0 0 47 10 17.5439 SPEG 0 genome.wustl.edu 37 2 220348470 220348470 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 220348470 220348470 G - DEL SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_del c.6285 p.G2097fs 0.792 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 11 0 0 4 2 33.3333 SLC4A3 0 genome.wustl.edu 37 2 220504282 220504282 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 220504282 220504282 G - DEL SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_del c.3183 p.L1064fs 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 115 1 0.862069 86 16 15.6863 STK25 0 genome.wustl.edu 37 2 242437662 242437662 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 242437662 242437662 G - DEL STK25 ENST00000316586 human ensembl 74_37 -1 known frame_shift_del c.1020 p.H340fs 0.026 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK25 HGNC ENSG00000115694 163 0 0 113 26 18.705 MAPRE3 0 genome.wustl.edu 37 2 27248517 27248517 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 27248517 27248517 C - DEL MAPRE3 ENST00000233121 human ensembl 74_37 +1 known frame_shift_del c.536 p.C182fs 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 85 0 0 71 12 14.4578 MPHOSPH10 0 genome.wustl.edu 37 2 71360643 71360643 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 71360643 71360643 T - DEL MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known frame_shift_del c.705 p.F237fs 0.995 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 107 0 0 112 27 19.4245 EIF5B 0 genome.wustl.edu 37 2 99985020 99985021 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 2 99985020 99985021 - A INS EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_ins c.1353_1354 p.I453fs 1.000:1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 56 0 0 52 10 16.129 TGM6 0 genome.wustl.edu 37 20 2384126 2384126 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 2384126 2384126 C - DEL TGM6 ENST00000202625 human ensembl 74_37 +1 known frame_shift_del c.1073 p.Q360fs 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 109 0 0 89 16 15.2381 CCM2L 0 genome.wustl.edu 37 20 30602812 30602812 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 30602812 30602812 C - DEL CCM2L ENST00000300415 human ensembl 74_37 +1 known frame_shift_del c.136 p.D48fs 1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 137 0 0 99 18 15.3846 TM9SF4 0 genome.wustl.edu 37 20 30737491 30737491 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 30737491 30737491 C - DEL TM9SF4 ENST00000398022 human ensembl 74_37 +1 known frame_shift_del c.1009 p.Q339fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 62 0 0 59 9 13.2353 CNBD2 0 genome.wustl.edu 37 20 34572693 34572693 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 34572693 34572693 T - DEL CNBD2 ENST00000373973 human ensembl 74_37 +1 known frame_shift_del c.709 p.F238fs 0.958 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 216 0 0 154 32 17.2043 RGS19 0 genome.wustl.edu 37 20 62705215 62705217 + In_Frame_Del DEL GGA GGA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 20 62705215 62705217 GGA - DEL RGS19 ENST00000332298 human ensembl 74_37 -1 known in_frame_del c.645_643 p.S215in_frame_del 0.003:0.167:0.163 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS19 HGNC ENSG00000171700 76 0 0 69 11 13.75 CXADR 0 genome.wustl.edu 37 21 18933045 18933045 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 18933045 18933045 A - DEL CXADR ENST00000284878 human ensembl 74_37 +1 known frame_shift_del c.597 p.N201fs 0.978 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CXADR HGNC ENSG00000154639 94 0 0 83 16 16.1616 SH3BGR 0 genome.wustl.edu 37 21 40823995 40823995 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 40823995 40823995 G - DEL SH3BGR ENST00000333634 human ensembl 74_37 +1 known frame_shift_del c.162 p.G56fs 0.996 NULL pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGR HGNC ENSG00000185437 289 0 0 241 34 12.3636 FAM3B 0 genome.wustl.edu 37 21 42694775 42694775 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 42694775 42694775 G - DEL FAM3B ENST00000398646 human ensembl 74_37 +1 putative frame_shift_del c.14 p.D7fs 0.001 NULL NULL - no_errors FAM3B HGNC ENSG00000183844 34 0 0 29 7 19.4444 TRPM2 0 genome.wustl.edu 37 21 45811295 45811295 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 21 45811295 45811295 C - DEL TRPM2 ENST00000300482 human ensembl 74_37 +1 known frame_shift_del c.1581 p.S529fs 0.996 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 146 1 0.680272 118 25 17.4825 SERPIND1 0 genome.wustl.edu 37 22 21138420 21138420 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 21138420 21138420 G - DEL SERPIND1 ENST00000215727 human ensembl 74_37 +1 known frame_shift_del c.1050 p.G352fs 0.957 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPIND1 HGNC ENSG00000099937 128 0 0 96 16 14.2857 HIC2 0 genome.wustl.edu 37 22 21799659 21799659 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 22 21799659 21799659 C - DEL HIC2 ENST00000407464 human ensembl 74_37 +1 known frame_shift_del c.475 p.R161fs 0.907 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 21 0 0 24 3 11.1111 LNP1 0 genome.wustl.edu 37 3 100170527 100170527 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 100170527 100170527 T - DEL LNP1 ENST00000489752 human ensembl 74_37 +1 novel frame_shift_del c.160 p.Y55fs 0.000 NULL NULL - no_errors LNP1 HGNC ENSG00000206535 24 0 0 22 6 21.4286 BBX 0 genome.wustl.edu 37 3 107492284 107492284 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 107492284 107492284 A - DEL BBX ENST00000325805 human ensembl 74_37 +1 known frame_shift_del c.1716 p.A574fs 0.991 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 91 0 0 66 17 20.4819 MYH15 0 genome.wustl.edu 37 3 108229398 108229398 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 108229398 108229398 A - DEL MYH15 ENST00000273353 human ensembl 74_37 -1 known frame_shift_del c.40 p.W14fs 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 114 0 0 102 10 8.92857 BOC 0 genome.wustl.edu 37 3 112991288 112991288 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 112991288 112991288 C - DEL BOC ENST00000273395 human ensembl 74_37 +1 known frame_shift_del c.699 p.P235fs 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 240 0 0 167 33 16.5 PARP15 0 genome.wustl.edu 37 3 122345823 122345823 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 122345823 122345823 A - DEL PARP15 ENST00000464300 human ensembl 74_37 +1 known frame_shift_del c.1381 p.R463fs 0.149 pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 98 0 0 78 9 10.3448 GK5 0 genome.wustl.edu 37 3 141923492 141923492 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 141923492 141923492 A - DEL GK5 ENST00000487672 human ensembl 74_37 -1 known frame_shift_del c.456 p.L153fs 0.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK5 HGNC ENSG00000175066 58 0 0 48 8 14.2857 PBX2P1 0 genome.wustl.edu 37 3 142895211 142895211 + RNA DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 142895211 142895211 G - DEL PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.341 - - - no_errors PBX2P1 HGNC ENSG00000244171 18 0 0 19 3 13.6364 MECOM 0 genome.wustl.edu 37 3 169381201 169381201 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 169381201 169381201 T - DEL MECOM ENST00000485957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MECOM HGNC ENSG00000085276 13 0 0 10 5 33.3333 LAMP3 0 genome.wustl.edu 37 3 182872079 182872079 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 182872079 182872079 T - DEL LAMP3 ENST00000265598 human ensembl 74_37 -1 known frame_shift_del c.150 p.K50fs 0.064 NULL pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP3 HGNC ENSG00000078081 187 0 0 143 33 18.75 MAP3K13 0 genome.wustl.edu 37 3 185165720 185165720 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 185165720 185165720 A - DEL MAP3K13 ENST00000265026 human ensembl 74_37 +1 known frame_shift_del c.995 p.V334fs 1.000 pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 46 0 0 38 8 17.3913 KIAA0226 0 genome.wustl.edu 37 3 197427914 197427915 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 197427914 197427915 - G INS KIAA0226 ENST00000296343 human ensembl 74_37 -1 known frame_shift_ins c.831_830 p.V278fs 0.000:0.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 134 1 0.740741 99 14 12.3894 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838275 + RNA DEL AA AA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 197838274 197838275 AA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 31 0 0 15 3 16.6667 HMGB1P5 0 genome.wustl.edu 37 3 22424081 22424081 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 22424081 22424081 T - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 26 0 0 20 4 16.6667 SCN10A 0 genome.wustl.edu 37 3 38750970 38750970 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 38750970 38750970 T - DEL SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_del c.4280 p.K1427fs 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 132 0 0 123 21 14.5833 QARS 0 genome.wustl.edu 37 3 49135641 49135641 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 49135641 49135641 A - DEL QARS ENST00000306125 human ensembl 74_37 -1 known frame_shift_del c.2135 p.L712fs 1.000 pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 87 0 0 57 8 12.3077 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 82 0 0 47 8 14.5455 ENSG00000271976 0 genome.wustl.edu 37 3 53894308 53894308 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 53894308 53894308 T - DEL ENSG00000271976 ENST00000607783 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-884K10.7 Clone_based_vega_gene ENSG00000271976 59 0 0 35 10 22.2222 PRICKLE2-AS3 0 genome.wustl.edu 37 3 64184686 64184686 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 3 64184686 64184686 T - DEL PRICKLE2-AS3 ENST00000473434 human ensembl 74_37 +1 known rna NULL NULL 0.222 - - - no_errors PRICKLE2-AS3 HGNC ENSG00000226017 27 0 0 18 11 37.931 ANK2 0 genome.wustl.edu 37 4 114280135 114280135 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 114280135 114280135 G - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.10361 p.G3456fs 0.005 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 77 0 0 73 9 10.9756 MGST2 0 genome.wustl.edu 37 4 140624683 140624683 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 140624683 140624683 A - DEL MGST2 ENST00000265498 human ensembl 74_37 +1 known frame_shift_del c.304 p.K103fs 0.060 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP - no_errors MGST2 HGNC ENSG00000085871 83 0 0 92 16 14.8148 SH3D19 0 genome.wustl.edu 37 4 152054188 152054188 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 152054188 152054188 A - DEL SH3D19 ENST00000304527 human ensembl 74_37 -1 known frame_shift_del c.1916 p.L639fs 0.943 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 37 0 0 25 3 10.7143 FGFBP1 0 genome.wustl.edu 37 4 15938178 15938178 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 15938178 15938178 T - DEL FGFBP1 ENST00000259988 human ensembl 74_37 -1 known frame_shift_del c.78 p.V27fs 0.001 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP1 HGNC ENSG00000137440 166 0 0 131 26 16.5605 WHSC1 0 genome.wustl.edu 37 4 1980558 1980559 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 1980558 1980559 - C INS WHSC1 ENST00000382891 human ensembl 74_37 +1 known frame_shift_ins c.4020_4021 p.E1343fs 0.734:0.982 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 38 0 0 43 5 10.4167 SH3BP2 0 genome.wustl.edu 37 4 2831768 2831768 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 2831768 2831768 C - DEL SH3BP2 ENST00000503393 human ensembl 74_37 +1 known frame_shift_del c.1306 p.V438fs 0.997 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 76 0 0 61 10 14.0845 GRK4 0 genome.wustl.edu 37 4 3040280 3040282 + RNA DEL AAA AAA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 3040280 3040282 AAA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003:0.005 - - - no_errors GRK4 HGNC ENSG00000125388 49 0 0 24 13 35.1351 KLF3 0 genome.wustl.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 38690460 38690460 A - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.312 p.K106fs 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 102 0 0 103 12 10.4348 KLF3 0 genome.wustl.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 38691476 38691476 C - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.671 p.P226fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 179 0 0 138 26 15.8537 UGDH 0 genome.wustl.edu 37 4 39515753 39515753 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 39515753 39515753 A - DEL UGDH ENST00000316423 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 171 0 0 159 10 5.91716 LIMCH1 0 genome.wustl.edu 37 4 41648508 41648511 + Frame_Shift_Del DEL GAGA GAGA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 41648508 41648511 GAGA - DEL LIMCH1 ENST00000503057 human ensembl 74_37 +1 known frame_shift_del c.2418_2421 p.R809fs 0.997:1.000:1.000:1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 138 0 0 136 11 7.48299 GUF1 0 genome.wustl.edu 37 4 44680574 44680574 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 44680574 44680574 A - DEL GUF1 ENST00000506793 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUF1 HGNC ENSG00000151806 13 0 0 9 4 30.7692 GABRG1 0 genome.wustl.edu 37 4 46060357 46060358 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 46060357 46060358 - A INS GABRG1 ENST00000295452 human ensembl 74_37 -1 known frame_shift_ins c.793_792 p.D264fs 1.000:1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 87 0 0 91 16 14.9533 HSD17B11 0 genome.wustl.edu 37 4 88312252 88312252 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 88312252 88312252 T - DEL HSD17B11 ENST00000508413 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HSD17B11 HGNC ENSG00000198189 20 0 0 12 3 20 ATOH1 0 genome.wustl.edu 37 4 94750381 94750382 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 4 94750381 94750382 - G INS ATOH1 ENST00000306011 human ensembl 74_37 +1 known frame_shift_ins c.304_305 p.E104fs 0.035:0.113 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 40 0 0 37 3 7.5 FTMT 0 genome.wustl.edu 37 5 121187789 121187789 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 121187789 121187789 C - DEL FTMT ENST00000321339 human ensembl 74_37 +1 known frame_shift_del c.131 p.R46fs 0.000 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 25 0 0 23 5 17.8571 ZNF608 0 genome.wustl.edu 37 5 123984684 123984684 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 123984684 123984684 C - DEL ZNF608 ENST00000306315 human ensembl 74_37 -1 known frame_shift_del c.1393 p.A465fs 0.918 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 136 0 0 118 19 13.8686 MEGF10 0 genome.wustl.edu 37 5 126732274 126732274 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 126732274 126732274 A - DEL MEGF10 ENST00000274473 human ensembl 74_37 +1 known frame_shift_del c.463 p.N156fs 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 150 0 0 140 20 12.5 DNAH5 0 genome.wustl.edu 37 5 13766156 13766156 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 13766156 13766156 T - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.10030 p.S3344fs 0.326 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 DNAH5 HGNC ENSG00000039139 194 0 0 168 27 13.8462 PCDHGA10 0 genome.wustl.edu 37 5 140794611 140794611 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 140794611 140794611 G - DEL PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known frame_shift_del c.1869 p.E625fs 0.964 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 PCDHGA10 HGNC ENSG00000253846 155 0 0 137 20 12.7389 ARHGAP26 0 genome.wustl.edu 37 5 142586763 142586763 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 142586763 142586763 C - DEL ARHGAP26 ENST00000274498 human ensembl 74_37 +1 known frame_shift_del c.1989 p.P665fs 1.000 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP26 HGNC ENSG00000145819 101 0 0 107 18 14.4 SLC6A7 0 genome.wustl.edu 37 5 149580755 149580755 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 149580755 149580755 C - DEL SLC6A7 ENST00000230671 human ensembl 74_37 +1 known frame_shift_del c.827 p.Q278fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 79 0 0 62 9 12.6761 SYNPO 0 genome.wustl.edu 37 5 150028264 150028264 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 150028264 150028264 C - DEL SYNPO ENST00000394243 human ensembl 74_37 +1 known frame_shift_del c.1159 p.Q388fs 0.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 210 0 0 180 10 5.26316 FAT2 0 genome.wustl.edu 37 5 150946553 150946553 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 150946553 150946553 T - DEL FAT2 ENST00000261800 human ensembl 74_37 -1 known frame_shift_del c.1940 p.N647fs 0.120 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 85 0 0 77 14 15.3846 SIMC1 0 genome.wustl.edu 37 5 175772230 175772230 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 175772230 175772230 A - DEL SIMC1 ENST00000443967 human ensembl 74_37 +1 known frame_shift_del c.2401 p.R802fs 1.000 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 193 1 0.515464 145 27 15.6977 PHYKPL 0 genome.wustl.edu 37 5 177658502 177658503 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 177658502 177658503 - A INS PHYKPL ENST00000308158 human ensembl 74_37 -1 known frame_shift_ins c.82_81 p.P27fs 0.742:0.486 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors PHYKPL HGNC ENSG00000175309 187 0 0 161 13 7.47126 DNAJC21 0 genome.wustl.edu 37 5 34945872 34945873 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 34945872 34945873 - A INS DNAJC21 ENST00000382021 human ensembl 74_37 +1 known frame_shift_ins c.1149_1150 p.Q385fs 1.000:1.000 NULL pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC21 HGNC ENSG00000168724 232 0 0 186 27 12.6761 MARVELD2 0 genome.wustl.edu 37 5 68736316 68736316 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 68736316 68736316 A - DEL MARVELD2 ENST00000325631 human ensembl 74_37 +1 known frame_shift_del c.1543 p.K517fs 0.996 pfam_Occludin_RNApol2_elong_fac_ELL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 53 0 0 35 7 16.6667 TBCA 0 genome.wustl.edu 37 5 76989051 76989051 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 76989051 76989051 A - DEL TBCA ENST00000306388 human ensembl 74_37 -1 putative frame_shift_del c.286 p.S96fs 0.176 NULL pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd - no_errors TBCA HGNC ENSG00000171530 21 0 0 19 5 20.8333 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 172 0 0 159 24 13.1148 RASA1 0 genome.wustl.edu 37 5 86675571 86675571 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 5 86675571 86675571 A - DEL RASA1 ENST00000274376 human ensembl 74_37 +1 known frame_shift_del c.2507 p.N838fs 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 59 0 0 41 7 14.5833 TBC1D32 0 genome.wustl.edu 37 6 121563353 121563353 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 121563353 121563353 T - DEL TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative frame_shift_del c.2151 p.K717fs 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 70 0 0 60 12 16.6667 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 73 0 0 61 14 18.6667 GPR126 0 genome.wustl.edu 37 6 142741018 142741019 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 142741018 142741019 - T INS GPR126 ENST00000367609 human ensembl 74_37 +1 known frame_shift_ins c.3096_3097 p.L1034fs 1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 162 0 0 128 24 15.7895 HIVEP2 0 genome.wustl.edu 37 6 143095843 143095843 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 143095843 143095843 T - DEL HIVEP2 ENST00000012134 human ensembl 74_37 -1 known frame_shift_del c.33 p.A12fs 0.954 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 307 0 0 217 44 16.8582 GRM1 0 genome.wustl.edu 37 6 146755373 146755374 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 146755373 146755374 - C INS GRM1 ENST00000282753 human ensembl 74_37 +1 known frame_shift_ins c.3026_3027 p.K1011fs 0.091:0.512 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 246 0 0 184 19 9.35961 LATS1 0 genome.wustl.edu 37 6 150005455 150005455 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 150005455 150005455 G - DEL LATS1 ENST00000253339 human ensembl 74_37 -1 known frame_shift_del c.770 p.P257fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 312 0 0 290 43 12.9129 PLEKHG1 0 genome.wustl.edu 37 6 151089838 151089838 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 151089838 151089838 T - DEL PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known frame_shift_del c.476 p.F160fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 40 0 0 29 5 14.7059 JARID2 0 genome.wustl.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 15496722 15496722 G - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1266 p.R425fs 0.963 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 105 0 0 73 9 10.9756 MLLT4 0 genome.wustl.edu 37 6 168272982 168272982 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 168272982 168272982 A - DEL MLLT4 ENST00000366806 human ensembl 74_37 +1 known frame_shift_del c.503 p.K170fs 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 132 0 0 92 26 22.0339 MLLT4 0 genome.wustl.edu 37 6 168325729 168325729 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 168325729 168325729 A - DEL MLLT4 ENST00000366806 human ensembl 74_37 +1 known frame_shift_del c.3036 p.K1014fs 0.004 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 70 0 0 87 9 9.375 THBS2 0 genome.wustl.edu 37 6 169637324 169637324 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 169637324 169637324 C - DEL THBS2 ENST00000366787 human ensembl 74_37 -1 known frame_shift_del c.1418 p.G473fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 37 0 0 38 7 15.5556 HLA-A 0 genome.wustl.edu 37 6 29910372 29910372 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 29910372 29910372 G - DEL HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_del c.42 p.A16fs 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-A HGNC ENSG00000206503 88 0 0 62 11 15.0685 PRR3 0 genome.wustl.edu 37 6 30530201 30530201 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 30530201 30530201 A - DEL PRR3 ENST00000376560 human ensembl 74_37 +1 known frame_shift_del c.496 p.K167fs 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors PRR3 HGNC ENSG00000204576 356 0 0 289 41 12.4242 TAP2 0 genome.wustl.edu 37 6 32805788 32805788 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 32805788 32805788 G - DEL TAP2 ENST00000374897 human ensembl 74_37 -1 known frame_shift_del c.223 p.L75fs 0.060 prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 81 0 0 84 11 11.5789 BAK1 0 genome.wustl.edu 37 6 33543655 33543655 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 33543655 33543655 A - DEL BAK1 ENST00000360661 human ensembl 74_37 -1 known frame_shift_del c.121 p.Y41fs 0.805 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAK1 HGNC ENSG00000030110 119 1 0.833333 93 20 17.6991 SPDEF 0 genome.wustl.edu 37 6 34512173 34512173 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 34512173 34512173 G - DEL SPDEF ENST00000374037 human ensembl 74_37 -1 known frame_shift_del c.60 p.D21fs 0.165 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPDEF HGNC ENSG00000124664 38 0 0 27 4 12.9032 PRPF4B 0 genome.wustl.edu 37 6 4052975 4052975 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 4052975 4052975 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.2334 p.K780fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 53 0 0 29 5 14.7059 MDFI 0 genome.wustl.edu 37 6 41617367 41617367 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 41617367 41617367 G - DEL MDFI ENST00000230321 human ensembl 74_37 +1 known frame_shift_del c.270 p.N92fs 0.997 NULL NULL - no_errors MDFI HGNC ENSG00000112559 432 0 0 327 45 12.0968 RIMS1 0 genome.wustl.edu 37 6 73110525 73110525 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 73110525 73110525 T - DEL RIMS1 ENST00000431478 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS1 HGNC ENSG00000079841 14 0 0 9 4 30.7692 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 94 0 0 68 14 17.0732 MANEA 0 genome.wustl.edu 37 6 96053719 96053719 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 6 96053719 96053719 A - DEL MANEA ENST00000358812 human ensembl 74_37 +1 known frame_shift_del c.827 p.K277fs 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 83 0 0 77 15 16.3043 PCOLCE 0 genome.wustl.edu 37 7 100204202 100204202 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 100204202 100204202 C - DEL PCOLCE ENST00000223061 human ensembl 74_37 +1 known frame_shift_del c.889 p.K299fs 0.006 NULL pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 78 0 0 49 5 9.25926 IFRD1 0 genome.wustl.edu 37 7 112108039 112108039 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 112108039 112108039 T - DEL IFRD1 ENST00000005558 human ensembl 74_37 +1 known frame_shift_del c.910 p.Y306fs 1.000 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 53 0 0 46 6 11.5385 TBXAS1 0 genome.wustl.edu 37 7 139719863 139719863 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 139719863 139719863 A - DEL TBXAS1 ENST00000416849 human ensembl 74_37 +1 known frame_shift_del c.1707 p.N571fs 0.058 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 136 1 0.729927 134 15 10.0671 FASTK 0 genome.wustl.edu 37 7 150773780 150773780 + RNA DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 150773780 150773780 G - DEL FASTK ENST00000489884 human ensembl 74_37 -1 known rna NULL NULL 0.065 - - - no_errors FASTK HGNC ENSG00000164896 17 0 0 12 4 25 CHPF2 0 genome.wustl.edu 37 7 150932283 150932283 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 150932283 150932283 G - DEL CHPF2 ENST00000035307 human ensembl 74_37 +1 known frame_shift_del c.413 p.A140fs 1.000 NULL pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 172 0 0 163 18 9.94475 WDR60 0 genome.wustl.edu 37 7 158695164 158695164 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 158695164 158695164 A - DEL WDR60 ENST00000407559 human ensembl 74_37 +1 known frame_shift_del c.1235 p.K414fs 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 107 1 0.925926 94 14 12.963 MPP6 0 genome.wustl.edu 37 7 24705665 24705666 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 24705665 24705666 - A INS MPP6 ENST00000222644 human ensembl 74_37 +1 known frame_shift_ins c.909_910 p.K306fs 1.000:1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP6 HGNC ENSG00000105926 230 0 0 202 29 12.5541 CBX3 0 genome.wustl.edu 37 7 26242614 26242614 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 26242614 26242614 A - DEL CBX3 ENST00000497498 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CBX3 HGNC ENSG00000122565 109 0 0 92 21 18.5841 SNX10 0 genome.wustl.edu 37 7 26404689 26404689 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 26404689 26404689 A - DEL SNX10 ENST00000446848 human ensembl 74_37 +1 known frame_shift_del c.313 p.N106fs 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX10 HGNC ENSG00000086300 82 0 0 73 11 13.0952 CARD11 0 genome.wustl.edu 37 7 2962854 2962854 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 2962854 2962854 C - DEL CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_del c.2054 p.G685fs 1.000 superfamily_PDZ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 82 0 0 71 7 8.97436 CDK13 0 genome.wustl.edu 37 7 40134237 40134238 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 40134237 40134238 - T INS CDK13 ENST00000181839 human ensembl 74_37 +1 known frame_shift_ins c.4197_4198 p.P1400fs 0.949:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 245 0 0 187 30 13.8249 COL28A1 0 genome.wustl.edu 37 7 7412846 7412846 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 7412846 7412846 T - DEL COL28A1 ENST00000399429 human ensembl 74_37 -1 known frame_shift_del c.2691 p.V898fs 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 64 0 0 53 16 23.1884 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 99 0 0 77 14 15.3846 AKAP9 0 genome.wustl.edu 37 7 91671391 91671392 + Frame_Shift_Ins INS - - AG TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 7 91671391 91671392 - AG INS AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_ins c.4985_4986 p.E1666fs 1.000:1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 71 0 0 67 8 10.6667 VPS13B 0 genome.wustl.edu 37 8 100654474 100654474 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 100654474 100654474 A - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.5731 p.I1913fs 0.452 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 251 0 0 223 33 12.8906 POLR2K 0 genome.wustl.edu 37 8 101164033 101164033 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 101164033 101164033 T - DEL POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POLR2K HGNC ENSG00000147669 33 0 0 17 18 51.4286 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 46 0 0 39 16 29.0909 RIMS2 0 genome.wustl.edu 37 8 105263262 105263262 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 105263262 105263262 A - DEL RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_del c.3702 p.V1236fs 0.832 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 88 0 0 89 7 7.29167 LRP12 0 genome.wustl.edu 37 8 105601140 105601141 + RNA DEL GA GA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 105601140 105601141 GA - DEL LRP12 ENST00000520770 human ensembl 74_37 -1 known rna NULL NULL 0.991:0.989 - - - no_errors LRP12 HGNC ENSG00000147650 31 0 0 39 3 7.14286 EFR3A 0 genome.wustl.edu 37 8 132982802 132982802 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 132982802 132982802 G - DEL EFR3A ENST00000254624 human ensembl 74_37 +1 known frame_shift_del c.1071 p.G359fs 0.042 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 121 0 0 143 11 7.14286 AGO2 0 genome.wustl.edu 37 8 141557692 141557692 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 141557692 141557692 C - DEL AGO2 ENST00000220592 human ensembl 74_37 -1 known frame_shift_del c.1623 p.M542fs 0.091 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 88 0 0 89 7 7.29167 PSD3 0 genome.wustl.edu 37 8 18490296 18490296 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 18490296 18490296 T - DEL PSD3 ENST00000440756 human ensembl 74_37 -1 known frame_shift_del c.2243 p.K748fs 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 49 0 0 35 9 20.4545 PSD3 0 genome.wustl.edu 37 8 18729796 18729796 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 18729796 18729796 T - DEL PSD3 ENST00000440756 human ensembl 74_37 -1 known frame_shift_del c.578 p.N193fs 0.030 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 169 0 0 142 33 18.8571 ZNF395 0 genome.wustl.edu 37 8 28209225 28209226 + In_Frame_Ins INS - - GCA TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 28209225 28209226 - GCA INS ZNF395 ENST00000344423 human ensembl 74_37 -1 known in_frame_ins c.1020_1019 p.342in_frame_insA 0.001:0.082 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 185 0 0 172 28 14 WRN 0 genome.wustl.edu 37 8 31001132 31001132 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 31001132 31001132 A - DEL WRN ENST00000298139 human ensembl 74_37 +1 known frame_shift_del c.3376 p.S1128fs 0.872 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 103 1 0.961538 136 11 7.48299 NRG1 0 genome.wustl.edu 37 8 32607050 32607050 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 32607050 32607050 T - DEL NRG1 ENST00000523681 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NRG1 HGNC ENSG00000157168 105 0 0 92 17 15.5963 PRKDC 0 genome.wustl.edu 37 8 48733302 48733302 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 48733302 48733302 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.9311 p.N3104fs 0.119 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 13 0 0 4 3 42.8571 PREX2 0 genome.wustl.edu 37 8 68992721 68992721 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 68992721 68992721 T - DEL PREX2 ENST00000288368 human ensembl 74_37 +1 known frame_shift_del c.1686 p.S565fs 0.015 smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 101 0 0 95 16 14.4144 TRPA1 0 genome.wustl.edu 37 8 72958792 72958792 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 72958792 72958792 T - DEL TRPA1 ENST00000262209 human ensembl 74_37 -1 known frame_shift_del c.2017 p.T673fs 0.001 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 138 0 0 158 15 8.67052 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 184 0 0 147 22 13.0178 ZFHX4 0 genome.wustl.edu 37 8 77763477 77763477 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 77763477 77763477 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.4320 p.K1442fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 45 0 0 35 5 12.5 LRRCC1 0 genome.wustl.edu 37 8 86041489 86041489 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 86041489 86041489 A - DEL LRRCC1 ENST00000360375 human ensembl 74_37 +1 known frame_shift_del c.1501 p.K502fs 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 177 0 0 204 34 14.2857 KCNS2 0 genome.wustl.edu 37 8 99441338 99441339 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 8 99441338 99441339 - G INS KCNS2 ENST00000287042 human ensembl 74_37 +1 known frame_shift_ins c.1131_1132 p.D378fs 0.890:1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,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,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 137 0 0 120 15 11.1111 ZNF462 0 genome.wustl.edu 37 9 109689690 109689690 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 109689690 109689690 C - DEL ZNF462 ENST00000457913 human ensembl 74_37 +1 known frame_shift_del c.3497 p.R1168fs 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 234 0 0 164 41 20 RGS3 0 genome.wustl.edu 37 9 116356322 116356323 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 116356322 116356323 - T INS RGS3 ENST00000462403 human ensembl 74_37 +1 known frame_shift_ins c.123_124 p.P44fs 0.005:0.003 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 341 0 0 302 40 11.6959 GAPVD1 0 genome.wustl.edu 37 9 128104522 128104522 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 128104522 128104522 A - DEL GAPVD1 ENST00000394105 human ensembl 74_37 +1 known frame_shift_del c.3071 p.K1025fs 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 133 0 0 101 29 22.3077 C9orf50 0 genome.wustl.edu 37 9 132382823 132382823 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 132382823 132382823 G - DEL C9orf50 ENST00000372478 human ensembl 74_37 -1 known frame_shift_del c.31 p.Q11fs 0.080 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 21 0 0 21 6 22.2222 PRRC2B 0 genome.wustl.edu 37 9 134351425 134351425 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 134351425 134351425 C - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known frame_shift_del c.3909 p.P1305fs 0.911 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 200 0 0 176 20 10.2041 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 135158548 135158549 AA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003 - - - no_errors SETX HGNC ENSG00000107290 20 0 0 11 6 35.2941 BRD3 0 genome.wustl.edu 37 9 136918529 136918529 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 136918529 136918529 G - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.71 p.P24fs 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 84 0 0 64 14 17.9487 PNPLA7 0 genome.wustl.edu 37 9 140356678 140356679 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 140356678 140356679 - G INS PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_ins c.3598_3597 p.I1199fs 1.000:1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 58 0 0 47 7 12.963 FREM1 0 genome.wustl.edu 37 9 14842654 14842654 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 14842654 14842654 C - DEL FREM1 ENST00000380881 human ensembl 74_37 -1 known frame_shift_del c.1401 p.F470fs 0.953 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 94 0 0 89 16 15.2381 CNTLN 0 genome.wustl.edu 37 9 17484353 17484353 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 17484353 17484353 A - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.3916 p.M1308fs 0.999 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 150 0 0 147 30 16.9492 ENSG00000272842 0 genome.wustl.edu 37 9 19371687 19371688 + RNA INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 19371687 19371688 - A INS ENSG00000272842 ENST00000609609 human ensembl 74_37 -1 known rna NULL NULL 0.095:0.000 - - - no_errors RP11-513M16.7 Clone_based_vega_gene ENSG00000272842 25 0 0 19 4 17.3913 MLLT3 0 genome.wustl.edu 37 9 20622295 20622295 + RNA DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 20622295 20622295 C - DEL MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC ENSG00000171843 29 0 0 26 2 7.14286 APBA1 0 genome.wustl.edu 37 9 72047493 72047493 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 72047493 72047493 G - DEL APBA1 ENST00000265381 human ensembl 74_37 -1 known frame_shift_del c.2401 p.H801fs 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 60 0 0 54 5 8.47458 FGD3 0 genome.wustl.edu 37 9 95738900 95738900 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 95738900 95738900 C - DEL FGD3 ENST00000337352 human ensembl 74_37 +1 known frame_shift_del c.362 p.Q123fs 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 74 0 0 57 6 9.52381 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 19 0 0 19 9 32.1429 TAF7L 0 genome.wustl.edu 37 X 100533995 100533996 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 100533995 100533996 - T INS TAF7L ENST00000372907 human ensembl 74_37 -1 known frame_shift_ins c.749_748 p.S250fs 0.000:0.001 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 222 0 0 216 37 14.6245 BHLHB9 0 genome.wustl.edu 37 X 102003967 102003967 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 102003967 102003967 A - DEL BHLHB9 ENST00000361229 human ensembl 74_37 +1 known frame_shift_del c.44 p.K17fs 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 118 0 0 107 8 6.95652 AGTR2 0 genome.wustl.edu 37 X 115303928 115303928 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 115303928 115303928 T - DEL AGTR2 ENST00000371906 human ensembl 74_37 +1 known frame_shift_del c.395 p.F134fs 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 335 1 0.297619 276 53 16.1094 SMARCA1 0 genome.wustl.edu 37 X 128605245 128605245 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 128605245 128605245 T - DEL SMARCA1 ENST00000371122 human ensembl 74_37 -1 known frame_shift_del c.2501 p.K834fs 1.000 pfam_ISWI_HAND-dom,superfamily_ISWI_HAND-dom pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 210 0 0 187 37 16.5179 USP26 0 genome.wustl.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 132160788 132160788 A - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1461 p.F487fs 0.033 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 319 0 0 258 38 12.8378 FGF13 0 genome.wustl.edu 37 X 137939822 137939823 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 137939822 137939823 - G INS FGF13 ENST00000370603 human ensembl 74_37 -1 known frame_shift_ins c.69_68 p.G24fs 1.000:1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 56 0 0 45 12 21.0526 MECP2 0 genome.wustl.edu 37 X 153296568 153296569 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 153296568 153296569 - C INS MECP2 ENST00000303391 human ensembl 74_37 -1 known frame_shift_ins c.711_710 p.G238fs 0.305:0.687 superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 255 1 0.390625 185 31 14.3519 ASB11 0 genome.wustl.edu 37 X 15333633 15333633 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 15333633 15333633 A - DEL ASB11 ENST00000480796 human ensembl 74_37 -1 known frame_shift_del c.95 p.L32fs 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 126 0 0 132 7 5.03597 FUNDC2 0 genome.wustl.edu 37 X 154274835 154274835 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 154274835 154274835 G - DEL FUNDC2 ENST00000369498 human ensembl 74_37 +1 known frame_shift_del c.336 p.G113fs 0.984 pfam_FUN14 pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 213 0 0 164 21 11.3514 AKAP17A 0 genome.wustl.edu 37 X 1712781 1712781 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 1712781 1712781 G - DEL AKAP17A ENST00000313871 human ensembl 74_37 +1 known frame_shift_del c.426 p.E144fs 0.965 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 396 0 0 316 34 9.71429 PPEF1 0 genome.wustl.edu 37 X 18779674 18779675 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 18779674 18779675 - T INS PPEF1 ENST00000361511 human ensembl 74_37 +1 known frame_shift_ins c.538_539 p.L182fs 0.387:0.380 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 146 0 0 133 17 11.3333 PHEX 0 genome.wustl.edu 37 X 22112144 22112144 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 22112144 22112144 T - DEL PHEX ENST00000379374 human ensembl 74_37 +1 known frame_shift_del c.776 p.L260fs 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 143 0 0 123 21 14.5833 EIF2S3 0 genome.wustl.edu 37 X 24091437 24091437 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 24091437 24091437 A - DEL EIF2S3 ENST00000460032 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EIF2S3 HGNC ENSG00000130741 32 0 0 20 6 23.0769 RBM10 0 genome.wustl.edu 37 X 47030467 47030469 + In_Frame_Del DEL GGC GGC - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 47030467 47030469 GGC - DEL RBM10 ENST00000377604 human ensembl 74_37 +1 known in_frame_del c.242_244 p.R85in_frame_del 1.000:1.000:1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 59 0 0 47 7 12.963 MAP2K4P1 0 genome.wustl.edu 37 X 72744763 72744763 + RNA DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 72744763 72744763 T - DEL MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 36 0 0 20 5 20 ATRX 0 genome.wustl.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 76907782 76907784 TCC - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known in_frame_del c.4379_4377 p.E1463in_frame_del 0.844:0.838:0.239 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 190 0 0 188 10 5.05051 FAM9A 0 genome.wustl.edu 37 X 8764320 8764320 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 8764320 8764320 T - DEL FAM9A ENST00000381003 human ensembl 74_37 -1 known frame_shift_del c.477 p.K159fs 0.007 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 28 0 0 31 6 16.2162 SHROOM2 0 genome.wustl.edu 37 X 9900744 9900744 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb X 9900744 9900744 G - DEL SHROOM2 ENST00000380913 human ensembl 74_37 +1 known frame_shift_del c.3421 p.D1142fs 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 83 0 0 59 5 7.8125