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 RPTN 0 genome.wustl.edu 37 1 152127241 152127241 + Silent SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 152127241 152127241 G A SNP RPTN ENST00000316073 human ensembl 74_37 -1 known silent c.2334 p.D778 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 552 0 0 453 136 23.09 LCE1C 0 genome.wustl.edu 37 1 152777850 152777850 + Silent SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 152777850 152777850 A C SNP LCE1C ENST00000368768 human ensembl 74_37 -1 known silent c.105 p.P35 0.930 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 118 0 0 97 57 37.013 OR10T2 0 genome.wustl.edu 37 1 158368403 158368403 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 158368403 158368403 A C SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known missense c.854 p.L285R 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 48 0 0 34 7 17.0732 OR6Y1 0 genome.wustl.edu 37 1 158517216 158517216 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 158517216 158517216 A C SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.680 p.L227R 0.669 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 OR6Y1 HGNC ENSG00000197532 112 0 0 64 30 31.9149 SPTA1 0 genome.wustl.edu 37 1 158590195 158590195 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 158590195 158590195 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6182 p.K2061T 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 56 0 0 36 27 42.8571 CADM3 0 genome.wustl.edu 37 1 159163747 159163747 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 159163747 159163747 A G SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.710 p.D237G 0.999 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 72 0 0 49 30 37.9747 CEP350 0 genome.wustl.edu 37 1 179965870 179965870 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 179965870 179965870 T G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.578 p.V193G 0.915 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 23 0 0 13 10 43.4783 CEP350 0 genome.wustl.edu 37 1 179972336 179972336 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 179972336 179972336 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.1046 p.R349Q 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 29 0 0 25 6 19.3548 HMCN1 0 genome.wustl.edu 37 1 186106025 186106025 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 186106025 186106025 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13538 p.N4513T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 164 0 0 90 44 32.8358 KCNT2 0 genome.wustl.edu 37 1 196459020 196459020 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 196459020 196459020 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.223 p.L75V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 78 0 0 55 20 26.6667 CFHR5 0 genome.wustl.edu 37 1 196967334 196967334 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 196967334 196967334 T C SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known silent c.1119 p.F373 0.006 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 CFHR5 HGNC ENSG00000134389 22 0 0 10 9 47.3684 CFHR5 0 genome.wustl.edu 37 1 196967340 196967340 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 196967340 196967340 T G SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.1125 p.H375Q 0.015 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 CFHR5 HGNC ENSG00000134389 28 0 0 12 10 45.4545 CRB1 0 genome.wustl.edu 37 1 197390679 197390679 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 197390679 197390679 T G SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.1721 p.F574C 0.985 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 141 0 0 81 44 35.2 USH2A 0 genome.wustl.edu 37 1 216258109 216258109 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 216258109 216258109 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5098 p.I1700L 0.089 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 113 0 0 74 36 32.7273 RAB3GAP2 0 genome.wustl.edu 37 1 220440002 220440002 + RNA SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 220440002 220440002 T C SNP RAB3GAP2 ENST00000462353 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 42 0 0 24 9 27.2727 PCNXL2 0 genome.wustl.edu 37 1 233134183 233134183 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 233134183 233134183 T A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5605 p.M1869L 0.168 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 54 0 0 57 27 32.1429 LYST 0 genome.wustl.edu 37 1 235904748 235904748 + Nonsense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 235904748 235904748 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known nonsense c.8332 p.R2778* 0.753 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 119 0 0 71 35 33.0189 MTR 0 genome.wustl.edu 37 1 237049613 237049613 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 237049613 237049613 A C SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.2797 p.S933R 0.996 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 33 0 0 24 11 31.4286 FMN2 0 genome.wustl.edu 37 1 240374532 240374532 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 240374532 240374532 A C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4062 p.K1354N 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 74 0 0 39 16 29.0909 CEP170 0 genome.wustl.edu 37 1 243319561 243319561 + Nonsense_Mutation SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 243319561 243319561 G T SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known nonsense c.3873 p.Y1291* 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 17 0 0 9 6 40 OR2L2 0 genome.wustl.edu 37 1 248202142 248202142 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 248202142 248202142 T C SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known silent c.573 p.T191 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 270 0 0 171 74 30.2041 OR2T5 0 genome.wustl.edu 37 1 248651944 248651944 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 248651944 248651944 A C SNP OR2T5 ENST00000366473 human ensembl 74_37 +1 known missense c.55 p.M19L 0.010 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T5 HGNC ENSG00000203661 85 0 0 67 15 18.2927 RNF19B 0 genome.wustl.edu 37 1 33407927 33407927 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 33407927 33407927 C T SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known silent c.1539 p.T513 0.827 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 97 0 0 86 21 19.6262 GJB3 0 genome.wustl.edu 37 1 35250846 35250846 + Silent SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 35250846 35250846 G T SNP GJB3 ENST00000373362 human ensembl 74_37 +1 known silent c.483 p.L161 1.000 pfam_Connexin_CCC,prints_Connexin31 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 132 0 0 162 9 5.26316 ENSG00000230615 0 genome.wustl.edu 37 1 44569083 44569083 + RNA SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 44569083 44569083 G A SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 30 0 0 7 7 50 NEGR1 0 genome.wustl.edu 37 1 72076711 72076711 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 72076711 72076711 C T SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known silent c.786 p.K262 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 105 0 0 68 17 20 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74954890 74954890 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 74954890 74954890 T G SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known silent c.2481 p.S827 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 62 0 0 37 14 27.451 C1orf173 0 genome.wustl.edu 37 1 75037845 75037845 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 75037845 75037845 A C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3549 p.S1183R 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 270 0 0 160 54 25.2336 C1orf173 0 genome.wustl.edu 37 1 75097545 75097545 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 75097545 75097545 A C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.671 p.L224R 0.655 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 92 0 0 36 22 37.931 CAMTA1 0 genome.wustl.edu 37 1 7724054 7724054 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 7724054 7724054 T G SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.1447 p.F483V 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,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 149 0 0 106 47 30.719 IFI44L 0 genome.wustl.edu 37 1 79101176 79101176 + Splice_Site SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 79101176 79101176 T C SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known splice_site c.876+2 e4+2 1.000 - - - no_errors IFI44L HGNC ENSG00000137959 92 0 0 54 5 8.47458 IFI44L 0 genome.wustl.edu 37 1 79102722 79102722 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 79102722 79102722 T A SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.882 p.N294K 0.669 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 123 0 0 72 21 22.5806 LPHN2 0 genome.wustl.edu 37 1 82447530 82447530 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 82447530 82447530 T A SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.3185 p.L1062H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 259 0 0 135 63 31.8182 TTLL7 0 genome.wustl.edu 37 1 84412920 84412920 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 84412920 84412920 A G SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known silent c.393 p.T131 0.664 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 44 0 0 21 11 34.375 RBMXL1 0 genome.wustl.edu 37 1 89449506 89449506 + Missense_Mutation SNP C C G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 1 89449506 89449506 C G SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known missense c.4 p.V2L 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 177 0 0 110 22 16.6667 SEPHS1 0 genome.wustl.edu 37 10 13370452 13370452 + Splice_Site SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 13370452 13370452 T A SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known splice_site c.652-2 e6-2 1.000 - - - no_errors SEPHS1 HGNC ENSG00000086475 83 0 0 111 7 5.9322 CYP2E1 0 genome.wustl.edu 37 10 135340998 135340998 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 135340998 135340998 C T SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known silent c.99 p.P33 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 91 0 0 98 10 9.25926 CUBN 0 genome.wustl.edu 37 10 16970291 16970291 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 16970291 16970291 A C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6136 p.L2046V 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_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 CUBN HGNC ENSG00000107611 75 0 0 59 13 18.0556 101928757 0 genome.wustl.edu 37 10 17922668 17922668 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 17922668 17922668 T G SNP 101928757 ENST00000331429 human ensembl 74_37 +1 novel missense c.2851 p.F951V 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 41 0 0 31 4 11.4286 ARL5B 0 genome.wustl.edu 37 10 18957582 18957582 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 18957582 18957582 G C SNP ARL5B ENST00000377275 human ensembl 74_37 +1 known missense c.231 p.W77C 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5B HGNC ENSG00000165997 60 0 0 51 12 19.0476 ENSG00000241125 0 genome.wustl.edu 37 10 38466930 38466930 + RNA SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 38466930 38466930 A C SNP ENSG00000241125 ENST00000419779 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-508N22.9 Clone_based_vega_gene ENSG00000241125 17 0 0 8 4 33.3333 ENSG00000224761 0 genome.wustl.edu 37 10 38484550 38484550 + RNA SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 38484550 38484550 T C SNP ENSG00000224761 ENST00000423162 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-508N22.8 Clone_based_vega_gene ENSG00000224761 38 0 0 35 8 18.6047 ENSG00000234864 0 genome.wustl.edu 37 10 43197389 43197389 + RNA SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 43197389 43197389 A C SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 35 0 0 23 6 20.6897 CSTF2T 0 genome.wustl.edu 37 10 53458078 53458078 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 53458078 53458078 C T SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known missense c.1232 p.G411D 0.575 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 192 0 0 133 7 5 DKK1 0 genome.wustl.edu 37 10 54074399 54074399 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 54074399 54074399 C T SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.205 p.P69S 0.788 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 92 0 0 117 7 5.64516 FAM13C 0 genome.wustl.edu 37 10 61011428 61011428 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 61011428 61011428 A C SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1541 p.L514R 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 79 0 0 67 18 21.1765 PRKCQ 0 genome.wustl.edu 37 10 6520990 6520990 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 6520990 6520990 C T SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known silent c.1317 p.P439 0.133 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_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 82 0 0 49 39 44.3182 CCSER2 0 genome.wustl.edu 37 10 86131567 86131567 + Silent SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 86131567 86131567 T A SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known silent c.759 p.P253 1.000 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 91 0 0 39 14 26.4151 LIPF 0 genome.wustl.edu 37 10 90435384 90435384 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 10 90435384 90435384 T G SNP LIPF ENST00000394375 human ensembl 74_37 +1 known silent c.888 p.T296 0.974 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 42 0 0 17 4 19.0476 TRPC6 0 genome.wustl.edu 37 11 101454101 101454101 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 101454101 101454101 T C SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.134 p.Q45R 0.539 NULL 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 16 0 0 19 4 17.3913 CARD18 0 genome.wustl.edu 37 11 105009613 105009613 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 105009613 105009613 T C SNP CARD18 ENST00000530950 human ensembl 74_37 -1 known missense c.200 p.K67R 0.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD18 HGNC ENSG00000255501 195 0 0 97 38 28.1481 ELMOD1 0 genome.wustl.edu 37 11 107518220 107518220 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 107518220 107518220 T G SNP ELMOD1 ENST00000265840 human ensembl 74_37 +1 known silent c.447 p.T149 0.888 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 46 0 0 36 4 10 BCO2 0 genome.wustl.edu 37 11 112050053 112050053 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 112050053 112050053 G C SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.141 p.Q47H 0.000 NULL pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 103 0 0 129 7 5.14706 DRD2 0 genome.wustl.edu 37 11 113295322 113295322 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 113295322 113295322 A G SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.52 p.W18R 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 106 0 0 77 25 24.5098 KMT2A 0 genome.wustl.edu 37 11 118392870 118392870 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 118392870 118392870 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.11893 p.R3965W 1.000 smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_Post-SET_dom 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 66 0 0 63 4 5.97015 TECTA 0 genome.wustl.edu 37 11 121008322 121008322 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 121008322 121008322 T G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3134 p.L1045R 0.989 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 58 0 0 78 11 12.3596 OR6X1 0 genome.wustl.edu 37 11 123624329 123624329 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 123624329 123624329 T G SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known silent c.898 p.R300 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 128 0 0 108 18 14.2857 OR10G4 0 genome.wustl.edu 37 11 123886648 123886648 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 123886648 123886648 T G SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.367 p.L123V 0.994 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 OR10G4 HGNC ENSG00000254737 189 0 0 218 25 10.2881 OR10G8 0 genome.wustl.edu 37 11 123900631 123900631 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 123900631 123900631 A C SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.302 p.Y101S 0.992 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 OR10G8 HGNC ENSG00000234560 142 0 0 146 40 21.5054 VWA5A 0 genome.wustl.edu 37 11 124007748 124007748 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 124007748 124007748 A G SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.1652 p.K551R 1.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 95 0 0 83 19 18.6275 KCNC1 0 genome.wustl.edu 37 11 17793502 17793502 + Silent SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 17793502 17793502 G A SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known silent c.861 p.L287 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 139 0 0 148 11 6.91824 NELL1 0 genome.wustl.edu 37 11 20907078 20907078 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 20907078 20907078 T C SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.595 p.L199 0.990 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 NELL1 HGNC ENSG00000165973 44 0 0 26 10 27.7778 KCNQ1 0 genome.wustl.edu 37 11 2549242 2549242 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 2549242 2549242 C T SNP KCNQ1 ENST00000155840 human ensembl 74_37 +1 known silent c.471 p.F157 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 104 0 0 72 19 20.8791 ANO3 0 genome.wustl.edu 37 11 26663444 26663444 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 26663444 26663444 T C SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known silent c.2143 p.L715 0.988 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 90 0 0 55 31 36.0465 KCNA4 0 genome.wustl.edu 37 11 30033274 30033274 + Missense_Mutation SNP A A T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 30033274 30033274 A T SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.952 p.L318I 1.000 prints_K_chnl pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 148 0 0 61 30 32.967 DCDC1 0 genome.wustl.edu 37 11 30973999 30973999 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 30973999 30973999 A C SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2708 p.L903R 0.233 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 36 0 0 19 6 24 IMMP1L 0 genome.wustl.edu 37 11 31454111 31454111 + Missense_Mutation SNP C C A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 31454111 31454111 C A SNP IMMP1L ENST00000278200 human ensembl 74_37 -1 known missense c.437 p.W146L 1.000 superfamily_Peptidase_S24_S26A/B/C pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP1L HGNC ENSG00000148950 50 0 0 44 8 15.3846 OR4S1 0 genome.wustl.edu 37 11 48327862 48327862 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 48327862 48327862 T G SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known missense c.88 p.F30V 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 196 0 0 191 35 15.4867 OR51F2 0 genome.wustl.edu 37 11 4843208 4843208 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 4843208 4843208 T C SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.593 p.L198P 0.264 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 163 0 0 103 26 20.155 LOC440040 0 genome.wustl.edu 37 11 49597963 49597963 + RNA SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 49597963 49597963 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 49 0 0 44 8 15.3846 OR4C13 0 genome.wustl.edu 37 11 49974429 49974429 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 49974429 49974429 T G SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.455 p.L152R 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 138 0 0 82 34 29.3103 OR4A5 0 genome.wustl.edu 37 11 51411522 51411522 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 51411522 51411522 T C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.874 p.R292G 0.403 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 27 0 0 24 5 17.2414 OR5D14 0 genome.wustl.edu 37 11 55563320 55563320 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 55563320 55563320 T G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.289 p.F97V 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 OR5D14 HGNC ENSG00000186113 60 0 0 58 6 9.375 TRIM51 0 genome.wustl.edu 37 11 55653074 55653074 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 55653074 55653074 A C SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.170 p.K57T 0.027 NULL 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 48 0 0 36 9 20 TRIM51 0 genome.wustl.edu 37 11 55659067 55659067 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 55659067 55659067 T C SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.1318 p.S440P 0.328 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 222 0 0 108 47 30.3226 OR8J3 0 genome.wustl.edu 37 11 55905014 55905014 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 55905014 55905014 A G SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.181 p.F61L 0.590 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 OR8J3 HGNC ENSG00000167822 156 0 0 140 26 15.6627 OR5J2 0 genome.wustl.edu 37 11 55944631 55944631 + Missense_Mutation SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 55944631 55944631 G T SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.538 p.D180Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 121 0 0 94 14 12.963 OR5T3 0 genome.wustl.edu 37 11 56020319 56020319 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 56020319 56020319 T A SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.644 p.L215H 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 284 0 0 187 36 16.1435 OR8K1 0 genome.wustl.edu 37 11 56113842 56113842 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 56113842 56113842 T G SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.328 p.F110V 0.001 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 OR8K1 HGNC ENSG00000150261 214 0 0 125 46 26.9006 OR5M11 0 genome.wustl.edu 37 11 56309940 56309940 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 56309940 56309940 T A SNP OR5M11 ENST00000528616 human ensembl 74_37 -1 known missense c.794 p.K265M 0.686 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 79 0 0 61 19 23.75 OR52N1 0 genome.wustl.edu 37 11 5809914 5809914 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 5809914 5809914 A C SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.133 p.F45V 0.442 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 - no_errors OR52N1 HGNC ENSG00000181001 61 0 0 39 18 31.5789 MPEG1 0 genome.wustl.edu 37 11 58979085 58979085 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 58979085 58979085 C T SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known silent c.1254 p.P418 0.000 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 105 0 0 53 11 17.1875 GIF 0 genome.wustl.edu 37 11 59599167 59599167 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 59599167 59599167 T C SNP GIF ENST00000257248 human ensembl 74_37 -1 known silent c.1176 p.V392 0.106 NULL pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 96 0 0 63 4 5.97015 GIF 0 genome.wustl.edu 37 11 59609977 59609977 + Silent SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 59609977 59609977 G A SNP GIF ENST00000257248 human ensembl 74_37 -1 known silent c.450 p.T150 0.372 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 122 0 0 88 27 23.4783 OVOL1 0 genome.wustl.edu 37 11 65562559 65562559 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 65562559 65562559 C T SNP OVOL1 ENST00000335987 human ensembl 74_37 +1 known missense c.551 p.T184M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL1 HGNC ENSG00000172818 51 0 0 64 9 12.3288 OR10A4 0 genome.wustl.edu 37 11 6898758 6898758 + Missense_Mutation SNP A A T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 6898758 6898758 A T SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known missense c.880 p.R294W 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 68 0 0 37 62 62.6263 NLRP14 0 genome.wustl.edu 37 11 7064294 7064294 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 7064294 7064294 A C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.1037 p.K346T 0.011 pfscan_NACHT_NTPase 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 NLRP14 HGNC ENSG00000158077 136 0 0 94 36 27.6923 PIDD 0 genome.wustl.edu 37 11 803460 803460 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 803460 803460 C T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known silent c.423 p.P141 0.001 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 69 0 0 83 18 17.8218 DLG2 0 genome.wustl.edu 37 11 84996396 84996396 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 84996396 84996396 A G SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known silent c.54 p.F18 1.000 pfam_L27_1,pfscan_L27 pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 53 0 0 38 11 22.449 GRM5 0 genome.wustl.edu 37 11 88258487 88258487 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 88258487 88258487 T G SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2716 p.T906P 1.000 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,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 337 0 0 243 63 20.5882 TYR 0 genome.wustl.edu 37 11 88911404 88911404 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 88911404 88911404 T C SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.283 p.F95L 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 61 0 0 46 11 19.2982 KDM4D 0 genome.wustl.edu 37 11 94732108 94732108 + Nonstop_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 11 94732108 94732108 A C SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known nonstop c.1572 p.*524Y 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 34 0 0 32 9 21.9512 CLEC2B 0 genome.wustl.edu 37 12 10005931 10005931 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 10005931 10005931 T G SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known silent c.418 p.R140 0.965 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 46 0 0 42 8 16 ENSG00000180574 0 genome.wustl.edu 37 12 10659700 10659700 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 10659700 10659700 A G SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known missense c.1199 p.K400R 1.000 pfam_TIF2_gsu_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 173 0 0 139 27 16.2651 RFX4 0 genome.wustl.edu 37 12 107141233 107141233 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 107141233 107141233 C T SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known missense c.1679 p.T560M 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 80 0 0 80 6 6.97674 PRKAB1 0 genome.wustl.edu 37 12 120106129 120106129 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 120106129 120106129 G A SNP PRKAB1 ENST00000229328 human ensembl 74_37 +1 known missense c.80 p.G27D 1.000 NULL pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 24 0 0 36 10 21.7391 TMEM132B 0 genome.wustl.edu 37 12 126138479 126138479 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 126138479 126138479 C T SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known silent c.2460 p.R820 0.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 75 0 0 48 11 18.6441 TMEM132B 0 genome.wustl.edu 37 12 126139242 126139242 + Missense_Mutation SNP C C G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 126139242 126139242 C G SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.3223 p.Q1075E 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 90 0 0 66 4 5.71429 MMP17 0 genome.wustl.edu 37 12 132325352 132325352 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 132325352 132325352 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known silent c.657 p.A219 0.006 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 50 0 0 62 12 16.2162 KCNJ8 0 genome.wustl.edu 37 12 21919240 21919240 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 21919240 21919240 T G SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.692 p.K231T 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_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 141 0 0 81 22 21.3592 ABCC9 0 genome.wustl.edu 37 12 22025656 22025656 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 22025656 22025656 T G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2101 p.T701P 1.000 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,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 176 0 0 125 28 18.3007 OVCH1 0 genome.wustl.edu 37 12 29608191 29608191 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 29608191 29608191 T C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.2428 p.K810E 0.882 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 89 0 0 61 21 25.6098 LRRK2 0 genome.wustl.edu 37 12 40668743 40668743 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 40668743 40668743 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.1889 p.I630S 0.959 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 51 0 0 29 6 17.1429 LRRK2 0 genome.wustl.edu 37 12 40740625 40740625 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 40740625 40740625 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.6180 p.G2060 0.421 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_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_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 41 0 0 18 5 21.7391 ADAMTS20 0 genome.wustl.edu 37 12 43860519 43860519 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 43860519 43860519 T G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.1303 p.S435R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 59 0 0 35 6 14.6341 OR6C3 0 genome.wustl.edu 37 12 55725759 55725759 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 55725759 55725759 A C SNP OR6C3 ENST00000379667 human ensembl 74_37 +1 known missense c.275 p.N92T 0.001 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 OR6C3 HGNC ENSG00000205329 128 0 0 86 18 17.3077 LRIG3 0 genome.wustl.edu 37 12 59307779 59307779 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 59307779 59307779 T C SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.367 p.I123V 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 51 0 0 46 8 14.8148 TRHDE 0 genome.wustl.edu 37 12 72969051 72969051 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 72969051 72969051 T C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.2013 p.T671 0.290 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 28 0 0 32 7 17.9487 KCNC2 0 genome.wustl.edu 37 12 75444468 75444468 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 75444468 75444468 A G SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.1317 p.G439 0.005 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 64 0 0 37 12 24.4898 E2F7 0 genome.wustl.edu 37 12 77438527 77438527 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 77438527 77438527 T G SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.878 p.K293T 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 103 0 0 64 19 22.8916 SYT1 0 genome.wustl.edu 37 12 79747354 79747354 + Missense_Mutation SNP C C A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 79747354 79747354 C A SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known missense c.883 p.L295M 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 247 0 0 168 29 14.7208 LIN7A 0 genome.wustl.edu 37 12 81283099 81283099 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 81283099 81283099 T G SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.132 p.E44D 0.998 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 35 0 0 24 4 14.2857 PPFIA2 0 genome.wustl.edu 37 12 81741391 81741391 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 81741391 81741391 G A SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.2153 p.P718L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 183 0 0 78 55 41.3534 LRRIQ1 0 genome.wustl.edu 37 12 85626509 85626509 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 85626509 85626509 T G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.4991 p.L1664R 0.988 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 49 0 0 25 4 13.7931 MGAT4C 0 genome.wustl.edu 37 12 86383276 86383276 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 86383276 86383276 T C SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.136 p.M46V 1.000 superfamily_LSM_dom pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 26 0 0 15 3 16.6667 CLLU1 0 genome.wustl.edu 37 12 92818588 92818588 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 92818588 92818588 A G SNP CLLU1 ENST00000378485 human ensembl 74_37 +1 known missense c.132 p.I44M 0.030 NULL NULL - no_errors CLLU1 HGNC ENSG00000257127 28 0 0 20 7 25.9259 PZP 0 genome.wustl.edu 37 12 9303324 9303324 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 12 9303324 9303324 T G SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.4300 p.S1434R 0.019 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 63 0 0 36 15 29.4118 NALCN 0 genome.wustl.edu 37 13 101833582 101833582 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 101833582 101833582 A G SNP NALCN ENST00000376196 human ensembl 74_37 -1 known missense c.1871 p.L624P 0.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 129 0 0 100 22 18.0328 SHISA2 0 genome.wustl.edu 37 13 26620785 26620785 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 26620785 26620785 C T SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known missense c.754 p.V252M 0.992 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 76 0 0 81 28 25.6881 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776025 36776025 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 36776025 36776025 T C SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.485 p.K162R 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 80 0 0 42 17 28.8136 SERTM1 0 genome.wustl.edu 37 13 37269503 37269503 + Silent SNP C C G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 37269503 37269503 C G SNP SERTM1 ENST00000315190 human ensembl 74_37 +1 known silent c.288 p.S96 1.000 NULL NULL - no_errors SERTM1 HGNC ENSG00000180440 84 0 0 58 23 28.3951 TRPC4 0 genome.wustl.edu 37 13 38211727 38211727 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 38211727 38211727 T G SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.2262 p.E754D 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 55 0 0 41 10 19.6078 TRPC4 0 genome.wustl.edu 37 13 38229328 38229328 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 38229328 38229328 T C SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.1781 p.E594G 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 39 0 0 26 13 33.3333 FREM2 0 genome.wustl.edu 37 13 39262883 39262883 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 39262883 39262883 T C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.1402 p.L468 0.992 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 90 0 0 71 17 19.3182 WBP4 0 genome.wustl.edu 37 13 41639425 41639425 + Splice_Site SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 41639425 41639425 T C SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known splice_site c.262+2 e4+2 1.000 - - - no_errors WBP4 HGNC ENSG00000120688 19 0 0 10 6 37.5 KLHL1 0 genome.wustl.edu 37 13 70314643 70314643 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 70314643 70314643 T G SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1685 p.D562A 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 61 0 0 65 12 15.5844 TBC1D4 0 genome.wustl.edu 37 13 75936660 75936660 + Missense_Mutation SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 75936660 75936660 G T SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.582 p.D194E 0.869 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 242 0 0 251 16 5.99251 DZIP1 0 genome.wustl.edu 37 13 96237108 96237108 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 96237108 96237108 A G SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known silent c.2406 p.S802 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 70 0 0 55 14 20.2899 STK24 0 genome.wustl.edu 37 13 99114041 99114041 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 13 99114041 99114041 A C SNP STK24 ENST00000376547 human ensembl 74_37 -1 known missense c.1076 p.L359W 0.113 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 STK24 HGNC ENSG00000102572 158 0 0 134 40 22.9885 OR4N2 0 genome.wustl.edu 37 14 20295735 20295735 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 14 20295735 20295735 T G SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.128 p.F43C 0.992 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 OR4N2 HGNC ENSG00000176294 387 0 0 149 36 19.4595 MYH6 0 genome.wustl.edu 37 14 23869976 23869976 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 14 23869976 23869976 T A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.1352 p.K451M 1.000 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 98 0 0 54 30 35.7143 LRFN5 0 genome.wustl.edu 37 14 42356513 42356513 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 14 42356513 42356513 A G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.685 p.S229G 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 159 0 0 82 19 18.8119 SLC8A3 0 genome.wustl.edu 37 14 70634007 70634007 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 14 70634007 70634007 T G SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.1133 p.K378T 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 151 1 0.657895 84 30 26.3158 SERPINA10 0 genome.wustl.edu 37 14 94754773 94754773 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 14 94754773 94754773 T G SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known missense c.842 p.K281T 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 73 0 0 54 6 10 SERPINA9 0 genome.wustl.edu 37 14 94933607 94933607 + Silent SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 14 94933607 94933607 A C SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known silent c.795 p.A265 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 53 0 0 33 9 21.4286 ENSG00000259425 0 genome.wustl.edu 37 15 23098432 23098432 + RNA SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 23098432 23098432 G A SNP ENSG00000259425 ENST00000559740 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors RP11-566K19.5 Clone_based_vega_gene ENSG00000259425 16 0 0 17 5 22.7273 RYR3 0 genome.wustl.edu 37 15 33928718 33928718 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 33928718 33928718 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.3523 p.E1175K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 140 0 0 74 32 30.1887 GOLGA8A 0 genome.wustl.edu 37 15 34678911 34678911 + Missense_Mutation SNP C C G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 34678911 34678911 C G SNP GOLGA8A ENST00000432566 human ensembl 74_37 -1 known missense c.290 p.R97P 0.997 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 22 0 0 17 4 19.0476 SLC12A1 0 genome.wustl.edu 37 15 48533782 48533782 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 48533782 48533782 T C SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.1286 p.V429A 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 177 0 0 96 41 29.927 SECISBP2L 0 genome.wustl.edu 37 15 49284561 49284561 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 49284561 49284561 C T SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known silent c.3186 p.G1062 0.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 97 0 0 86 29 25.2174 UNC13C 0 genome.wustl.edu 37 15 54307854 54307854 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 54307854 54307854 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.2754 p.Q918 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_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 85 0 0 42 22 34.375 UNC13C 0 genome.wustl.edu 37 15 54435824 54435824 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 54435824 54435824 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3014 p.I1005T 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_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 23 0 0 13 4 23.5294 THSD4 0 genome.wustl.edu 37 15 72037465 72037465 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 72037465 72037465 C T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.1927 p.R643C 0.484 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 442 1 0.225734 293 135 31.5421 AGBL1 0 genome.wustl.edu 37 15 86807985 86807985 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 15 86807985 86807985 A G SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.1445 p.K482R 0.145 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 123 0 0 67 29 30.2083 SOX8 0 genome.wustl.edu 37 16 1034896 1034896 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 1034896 1034896 A C SNP SOX8 ENST00000293894 human ensembl 74_37 +1 known missense c.851 p.E284A 1.000 NULL pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 35 0 0 47 9 16.0714 TMC5 0 genome.wustl.edu 37 16 19451929 19451929 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 19451929 19451929 A G SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.569 p.H190R 0.004 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 168 0 0 100 17 14.5299 TMC5 0 genome.wustl.edu 37 16 19451957 19451957 + Silent SNP A A T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 19451957 19451957 A T SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known silent c.597 p.A199 0.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 143 0 0 82 15 15.4639 DNAH3 0 genome.wustl.edu 37 16 20975134 20975134 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 20975134 20975134 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10072 p.Y3358H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 137 0 0 120 14 10.4478 ABCC12 0 genome.wustl.edu 37 16 48174824 48174824 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 48174824 48174824 A C SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.431 p.L144R 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_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 57 0 0 56 9 13.8462 CNTNAP4 0 genome.wustl.edu 37 16 76523743 76523743 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 76523743 76523743 T G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.2040 p.T680 0.996 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 16 0 0 12 3 20 ADAMTS18 0 genome.wustl.edu 37 16 77397765 77397765 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 77397765 77397765 T G SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.990 p.K330N 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 58 0 0 54 13 19.403 CDH13 0 genome.wustl.edu 37 16 83159046 83159046 + Silent SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 83159046 83159046 G A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known silent c.423 p.V141 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 26 0 0 27 3 10 SPIRE2 0 genome.wustl.edu 37 16 89922632 89922632 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 89922632 89922632 T G SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known missense c.1090 p.W364G 0.705 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 10 0 0 10 10 50 GRIN2A 0 genome.wustl.edu 37 16 9923493 9923493 + Silent SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 16 9923493 9923493 A C SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.1794 p.S598 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 72 0 0 34 13 27.6596 MYH3 0 genome.wustl.edu 37 17 10542945 10542945 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 10542945 10542945 T C SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.2857 p.K953E 1.000 NULL 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 MYH3 HGNC ENSG00000109063 324 0 0 211 91 30.1325 PMP22 0 genome.wustl.edu 37 17 15142792 15142792 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 15142792 15142792 A C SNP PMP22 ENST00000494511 human ensembl 74_37 -1 novel missense c.136 p.C46G 0.922 NULL NULL - no_errors PMP22 HGNC ENSG00000109099 112 0 0 81 29 26.3636 SNORD3B-2 0 genome.wustl.edu 37 17 18967120 18967120 + RNA SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 18967120 18967120 T C SNP SNORD3B-2 ENST00000571722 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 HGNC ENSG00000262074 82 0 0 21 21 50 SNORD3B-2 0 genome.wustl.edu 37 17 18967152 18967152 + RNA SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 18967152 18967152 C T SNP SNORD3B-2 ENST00000571722 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 HGNC ENSG00000262074 186 0 0 90 11 10.8911 KCNJ12 0 genome.wustl.edu 37 17 21318958 21318958 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 21318958 21318958 T G SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.304 p.F102V 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 92 0 0 81 7 7.95455 ENSG00000266999 0 genome.wustl.edu 37 17 34234052 34234052 + RNA SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 34234052 34234052 T C SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 56 0 0 26 13 33.3333 ENSG00000266999 0 genome.wustl.edu 37 17 34235609 34235609 + RNA SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 34235609 34235609 T G SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 97 0 0 64 4 5.88235 PTGES3L-AARSD1 0 genome.wustl.edu 37 17 41122335 41122335 + Nonsense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 41122335 41122335 T A SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 74_37 -1 known nonsense c.532 p.R178* 0.077 pfam_Ala-tRNA-synth_IIc_N pfam_tRNA_SAD,pfam_CS_dom,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS_dom,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 303 0 0 213 17 7.3913 SMTNL2 0 genome.wustl.edu 37 17 4497135 4497135 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 4497135 4497135 C T SNP SMTNL2 ENST00000389313 human ensembl 74_37 +1 known missense c.749 p.T250M 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL2 HGNC ENSG00000188176 78 0 0 57 17 22.973 IGF2BP1 0 genome.wustl.edu 37 17 47075088 47075088 + RNA SNP C C A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 47075088 47075088 C A SNP IGF2BP1 ENST00000510023 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors IGF2BP1 HGNC ENSG00000159217 70 0 0 63 20 24.0964 KIF2B 0 genome.wustl.edu 37 17 51902400 51902400 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 51902400 51902400 A G SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.2006 p.K669R 0.313 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 58 0 0 29 5 14.7059 SMG8 0 genome.wustl.edu 37 17 57290673 57290673 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 57290673 57290673 C T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.2489 p.A830V 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 183 0 0 109 17 13.4921 CCDC42 0 genome.wustl.edu 37 17 8644934 8644934 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 8644934 8644934 A G SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.350 p.L117P 0.999 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 93 0 0 69 33 32.3529 GLP2R 0 genome.wustl.edu 37 17 9739737 9739737 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 17 9739737 9739737 T G SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known silent c.327 p.S109 0.001 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 194 0 0 112 44 28.2051 LAMA3 0 genome.wustl.edu 37 18 21526174 21526174 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 21526174 21526174 A C SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.9277 p.S3093R 0.446 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 84 0 0 63 31 32.9787 SETBP1 0 genome.wustl.edu 37 18 42281639 42281639 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 42281639 42281639 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.328 p.T110A 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 113 0 0 64 30 31.9149 EPB41L3 0 genome.wustl.edu 37 18 5406839 5406839 + Silent SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 5406839 5406839 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2286 p.S762 0.999 pirsf_Band_41_protein,pfam_SAB_dom pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 117 0 0 76 30 28.3019 L3MBTL4 0 genome.wustl.edu 37 18 5969416 5969416 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 5969416 5969416 T C SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known silent c.1617 p.Q539 0.022 superfamily_SAM/pointed pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 97 0 0 100 33 24.812 SERPINB3 0 genome.wustl.edu 37 18 61322928 61322928 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 61322928 61322928 T G SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known missense c.1136 p.N379T 0.037 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 194 0 0 124 44 26.1905 ARHGAP28 0 genome.wustl.edu 37 18 6870702 6870702 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 6870702 6870702 G A SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.925 p.E309K 0.656 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 72 0 0 51 27 34.6154 CBLN2 0 genome.wustl.edu 37 18 70205481 70205481 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 70205481 70205481 A G SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.605 p.L202P 1.000 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 CBLN2 HGNC ENSG00000141668 121 0 0 82 31 27.4336 ZNF236 0 genome.wustl.edu 37 18 74616428 74616428 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 74616428 74616428 T C SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1981 p.Y661H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 36 0 0 30 3 9.09091 ZNF208 0 genome.wustl.edu 37 19 22156135 22156135 + Silent SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 22156135 22156135 G T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.1701 p.T567 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 ZNF208 HGNC ENSG00000160321 27 0 0 11 5 31.25 ZNF99 0 genome.wustl.edu 37 19 22940372 22940372 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 22940372 22940372 T G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.2066 p.K689T 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 ZNF99 HGNC ENSG00000213973 39 0 0 24 3 11.1111 ZNF728 0 genome.wustl.edu 37 19 23159521 23159521 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 23159521 23159521 A G SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel silent c.618 p.H206 0.027 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 ZNF728 HGNC ENSG00000269067 37 0 0 12 7 36.8421 UPK1A 0 genome.wustl.edu 37 19 36164136 36164136 + Nonsense_Mutation SNP C C A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 36164136 36164136 C A SNP UPK1A ENST00000379013 human ensembl 74_37 +1 known nonsense c.288 p.Y96* 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 111 0 0 143 48 25.1309 ZNF793 0 genome.wustl.edu 37 19 38023304 38023304 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 38023304 38023304 A C SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.62 p.E21A 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 ZNF793 HGNC ENSG00000188227 48 0 0 52 6 10.3448 ZNF571 0 genome.wustl.edu 37 19 38057008 38057008 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 38057008 38057008 T C SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known missense c.322 p.M108V 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 95 0 0 54 32 37.2093 BCAM 0 genome.wustl.edu 37 19 45322958 45322958 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 45322958 45322958 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.1738 p.R580C 1.000 NULL pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 28 0 0 48 5 9.43396 NR1H2 0 genome.wustl.edu 37 19 50881825 50881825 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 50881825 50881825 G A SNP NR1H2 ENST00000593532 human ensembl 74_37 +1 known missense c.392 p.S131N 1.000 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1H2 HGNC ENSG00000131408 95 0 0 123 7 5.38462 ZNF665 0 genome.wustl.edu 37 19 53669150 53669150 + Missense_Mutation SNP C C A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 53669150 53669150 C A SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.593 p.R198I 0.000 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 ZNF665 HGNC ENSG00000197497 109 0 0 57 29 33.7209 ZNF813 0 genome.wustl.edu 37 19 53993839 53993839 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 53993839 53993839 A C SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.353 p.K118T 0.033 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF813 HGNC ENSG00000198346 262 0 0 185 19 9.31373 LILRA2 0 genome.wustl.edu 37 19 55098681 55098681 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 55098681 55098681 A C SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known missense c.1320 p.Q440H 0.001 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 117 0 0 86 7 7.52688 NLRP13 0 genome.wustl.edu 37 19 56422095 56422095 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 56422095 56422095 T A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.2116 p.S706C 0.000 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 NLRP13 HGNC ENSG00000173572 109 0 0 117 11 8.59375 ZNF264 0 genome.wustl.edu 37 19 57723986 57723986 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 57723986 57723986 A G SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known silent c.1521 p.G507 0.997 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 ZNF264 HGNC ENSG00000083844 91 0 0 69 11 13.75 AURKC 0 genome.wustl.edu 37 19 57743421 57743421 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 57743421 57743421 A G SNP AURKC ENST00000302804 human ensembl 74_37 +1 known missense c.125 p.D42G 1.000 superfamily_Kinase-like_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 AURKC HGNC ENSG00000105146 66 0 0 45 12 21.0526 ZNF460 0 genome.wustl.edu 37 19 57802744 57802744 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 57802744 57802744 C T SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known missense c.835 p.P279S 0.998 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 ZNF460 HGNC ENSG00000197714 136 0 0 129 10 7.19424 ZNF211 0 genome.wustl.edu 37 19 58152347 58152347 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 58152347 58152347 A C SNP ZNF211 ENST00000240731 human ensembl 74_37 +1 known missense c.532 p.S178R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF211 HGNC ENSG00000121417 88 0 0 55 14 20.2899 ZNF606 0 genome.wustl.edu 37 19 58491404 58491404 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 58491404 58491404 A G SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.644 p.L215P 0.018 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 ZNF606 HGNC ENSG00000166704 136 0 0 120 26 17.8082 ZNF329 0 genome.wustl.edu 37 19 58640334 58640334 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 58640334 58640334 A C SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.537 p.N179K 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 80 0 0 51 8 13.5593 MUC16 0 genome.wustl.edu 37 19 9058642 9058642 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 9058642 9058642 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.28804 p.T9602A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 44 0 0 29 8 21.6216 MUC16 0 genome.wustl.edu 37 19 9075479 9075479 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 9075479 9075479 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.11967 p.Q3989H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 44 0 0 15 14 48.2759 MUC16 0 genome.wustl.edu 37 19 9075509 9075509 + Silent SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 9075509 9075509 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.11937 p.S3979 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 40 0 0 25 3 10.7143 MUC16 0 genome.wustl.edu 37 19 9083248 9083248 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 19 9083248 9083248 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.8567 p.E2856G 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 29 0 0 11 5 31.25 SULT1C3 0 genome.wustl.edu 37 2 108872118 108872118 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 108872118 108872118 T G SNP SULT1C3 ENST00000329106 human ensembl 74_37 +1 known missense c.490 p.L164V 0.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 88 0 0 61 16 20.7792 MYO7B 0 genome.wustl.edu 37 2 128366344 128366344 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 128366344 128366344 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.2705 p.R902H 0.860 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,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_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 31 0 0 28 11 28.2051 ZRANB3 0 genome.wustl.edu 37 2 136023244 136023244 + Missense_Mutation SNP C C G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 136023244 136023244 C G SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.1399 p.G467R 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 20 0 0 26 5 16.129 LRP1B 0 genome.wustl.edu 37 2 141200150 141200150 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 141200150 141200150 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10337 p.T3446M 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 80 0 0 55 33 37.5 GTDC1 0 genome.wustl.edu 37 2 144764977 144764977 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 144764977 144764977 T G SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known missense c.647 p.K216T 0.010 NULL pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 79 0 0 64 6 8.57143 KCNJ3 0 genome.wustl.edu 37 2 155555450 155555450 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 155555450 155555450 G C SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.163 p.V55L 1.000 pfam_K_chnl_inward-rec_Kir,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 70 0 0 51 17 25 SLC4A10 0 genome.wustl.edu 37 2 162815046 162815046 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 162815046 162815046 C T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.2843 p.S948L 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_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 28 0 0 22 5 18.5185 SCN9A 0 genome.wustl.edu 37 2 167141153 167141153 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 167141153 167141153 T C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.1787 p.Q596R 0.906 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 88 0 0 87 14 13.8614 TTN 0 genome.wustl.edu 37 2 179485466 179485466 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 179485466 179485466 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.38167 p.S12723R 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 150 0 0 112 24 17.6471 TTN 0 genome.wustl.edu 37 2 179603061 179603061 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 179603061 179603061 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10387 p.E3463K 0.871 pfam_Ig_I-set,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 35 0 0 21 19 47.5 TTN 0 genome.wustl.edu 37 2 179615852 179615852 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 179615852 179615852 T A SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.11275 p.S3759C 0.247 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 72 0 0 48 17 26.1538 ITGA4 0 genome.wustl.edu 37 2 182374426 182374426 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 182374426 182374426 T C SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known silent c.1737 p.A579 0.361 pfam_Integrin_alpha-2,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 79 0 0 40 33 45.2055 ZSWIM2 0 genome.wustl.edu 37 2 187692958 187692958 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 187692958 187692958 T G SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known missense c.1655 p.N552T 0.000 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 55 0 0 34 9 20.9302 ENSG00000231689 0 genome.wustl.edu 37 2 189093058 189093058 + RNA SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 189093058 189093058 A C SNP ENSG00000231689 ENST00000415357 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors AC068718.1 Clone_based_vega_gene ENSG00000231689 29 0 0 25 7 21.875 ERBB4 0 genome.wustl.edu 37 2 212248779 212248779 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 212248779 212248779 A G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3488 p.L1163P 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 73 0 0 70 13 15.6627 ABCA12 0 genome.wustl.edu 37 2 215855595 215855595 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 215855595 215855595 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.3455 p.S1152L 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 89 0 0 52 36 40.9091 SPHKAP 0 genome.wustl.edu 37 2 228884001 228884001 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 228884001 228884001 T G SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1569 p.Q523H 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 95 0 0 81 24 22.8571 SP140 0 genome.wustl.edu 37 2 231157373 231157373 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 231157373 231157373 A C SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.1838 p.K613T 0.013 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom 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 103 0 0 84 30 26.3158 FSHR 0 genome.wustl.edu 37 2 49191060 49191060 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 49191060 49191060 T G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.900 p.E300D 0.239 pfam_GnHR_TM,prints_FSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 177 0 0 124 27 17.8808 NRXN1 0 genome.wustl.edu 37 2 50779932 50779932 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 50779932 50779932 A C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1528 p.L510V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 120 0 0 75 16 17.5824 AFTPH 0 genome.wustl.edu 37 2 64779733 64779733 + Silent SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 64779733 64779733 T A SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known silent c.1125 p.T375 0.993 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 82 0 0 60 24 28.5714 MEIS1 0 genome.wustl.edu 37 2 66796234 66796234 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 2 66796234 66796234 C T SNP MEIS1 ENST00000272369 human ensembl 74_37 +1 known silent c.1167 p.Y389 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 180 0 0 126 47 27.1676 SPTLC3 0 genome.wustl.edu 37 20 13107335 13107335 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 20 13107335 13107335 T G SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.1250 p.L417R 0.001 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 168 0 0 143 30 17.341 SEC23B 0 genome.wustl.edu 37 20 18505155 18505155 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 20 18505155 18505155 G C SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.445 p.E149Q 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 107 0 0 94 21 18.2609 XRN2 0 genome.wustl.edu 37 20 21312985 21312985 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 20 21312985 21312985 C T SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known silent c.765 p.F255 1.000 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 71 0 0 53 10 15.873 PTPRT 0 genome.wustl.edu 37 20 40864897 40864897 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 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 98 0 0 95 15 13.6364 DOK5 0 genome.wustl.edu 37 20 53171511 53171511 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 20 53171511 53171511 A G SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known missense c.106 p.S36G 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 46 0 0 49 7 12.5 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862951 10862951 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 21 10862951 10862951 T C SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.247 p.F83L 0.004 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 404 0 0 225 25 10 BAGE2 0 genome.wustl.edu 37 21 11049470 11049470 + RNA SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 21 11049470 11049470 G A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 221 0 0 117 7 5.64516 SAMSN1 0 genome.wustl.edu 37 21 15858379 15858379 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 21 15858379 15858379 A C SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.976 p.L326V 0.990 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 48 0 0 37 6 13.9535 TMPRSS15 0 genome.wustl.edu 37 21 19704431 19704431 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 21 19704431 19704431 A C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1624 p.F542V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 106 0 0 42 9 17.6471 RCAN1 0 genome.wustl.edu 37 21 35893737 35893737 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 21 35893737 35893737 T C SNP RCAN1 ENST00000492600 human ensembl 74_37 -1 putative missense c.481 p.R161G 0.000 NULL pfam_Calcipressin - no_errors RCAN1 HGNC ENSG00000159200 38 0 0 26 3 10.3448 PRDM15 0 genome.wustl.edu 37 21 43221454 43221454 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 21 43221454 43221454 C T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.4470 p.A1490 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 101 1 0.980392 95 23 19.4915 LIF 0 genome.wustl.edu 37 22 30640813 30640813 + Missense_Mutation SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 22 30640813 30640813 G T SNP LIF ENST00000249075 human ensembl 74_37 -1 known missense c.129 p.N43K 1.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF - no_errors LIF HGNC ENSG00000128342 68 0 0 70 6 7.89474 CACNG2 0 genome.wustl.edu 37 22 36960743 36960743 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 22 36960743 36960743 C T SNP CACNG2 ENST00000300105 human ensembl 74_37 -1 known silent c.627 p.R209 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin - no_errors CACNG2 HGNC ENSG00000166862 261 0 0 305 36 10.5572 ZBED2 0 genome.wustl.edu 37 3 111312683 111312683 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 111312683 111312683 C T SNP ZBED2 ENST00000317012 human ensembl 74_37 -1 known silent c.366 p.Q122 0.010 NULL pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED2 HGNC ENSG00000177494 90 0 0 110 8 6.77966 SLCO2A1 0 genome.wustl.edu 37 3 133748643 133748643 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 133748643 133748643 C T SNP SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known missense c.4 p.G2R 0.999 pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 9 0 0 6 3 33.3333 C3orf20 0 genome.wustl.edu 37 3 14803068 14803068 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 14803068 14803068 G A SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.2441 p.R814Q 0.005 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 103 0 0 60 20 25 SH3BP5 0 genome.wustl.edu 37 3 15300337 15300337 + Splice_Site SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 15300337 15300337 C T SNP SH3BP5 ENST00000383791 human ensembl 74_37 -1 known splice_site c.889+1 e7+1 1.000 - - - no_errors SH3BP5 HGNC ENSG00000131370 64 0 0 30 31 50.8197 SLITRK3 0 genome.wustl.edu 37 3 164905856 164905856 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 164905856 164905856 T C SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.2763 p.Q921 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 153 1 0.649351 70 42 37.5 OSTN 0 genome.wustl.edu 37 3 190936627 190936627 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 190936627 190936627 T G SNP OSTN ENST00000339051 human ensembl 74_37 +1 known missense c.194 p.L65R 1.000 pfam_Osteocrin pfam_Osteocrin - no_errors OSTN HGNC ENSG00000188729 72 0 0 38 13 25.4902 CCDC50 0 genome.wustl.edu 37 3 191074885 191074885 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 191074885 191074885 G C SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known missense c.58 p.D20H 1.000 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 44 0 0 22 7 24.1379 ACVR2B 0 genome.wustl.edu 37 3 38524780 38524780 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 38524780 38524780 C T SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known missense c.1496 p.S499F 1.000 prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2B HGNC ENSG00000114739 96 0 0 73 20 21.5054 CNTN3 0 genome.wustl.edu 37 3 74350898 74350898 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 74350898 74350898 T C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.1845 p.Q615 0.314 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 76 0 0 40 9 18.3673 EPHA6 0 genome.wustl.edu 37 3 96706694 96706694 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 96706694 96706694 T A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.971 p.V324D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 189 0 0 91 37 28.9062 OR5H15 0 genome.wustl.edu 37 3 97887637 97887637 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 97887637 97887637 T G SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known missense c.94 p.L32V 0.956 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 304 0 0 145 55 27.5 USP38 0 genome.wustl.edu 37 4 144134809 144134809 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 144134809 144134809 T G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known silent c.1680 p.T560 0.100 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 40 0 0 20 11 35.4839 GYPE 0 genome.wustl.edu 37 4 144826643 144826643 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 144826643 144826643 G C SNP GYPE ENST00000358615 human ensembl 74_37 -1 known missense c.18 p.I6M 0.000 NULL NULL - no_errors GYPE HGNC ENSG00000197465 60 0 0 23 8 25.8065 FBXW7 0 genome.wustl.edu 37 4 153251934 153251934 + Nonsense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 153251934 153251934 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known nonsense c.1072 p.Q358* 1.000 superfamily_F-box_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 116 0 0 29 38 56.7164 RBM46 0 genome.wustl.edu 37 4 155719399 155719399 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 155719399 155719399 T C SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known silent c.588 p.A196 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 54 0 0 28 11 28.2051 TLL1 0 genome.wustl.edu 37 4 166999084 166999084 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 166999084 166999084 A C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.2344 p.S782R 0.978 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 63 0 0 28 8 22.2222 HSP90AA4P 0 genome.wustl.edu 37 4 190396320 190396320 + RNA SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 190396320 190396320 C T SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 105 0 0 32 29 47.541 EVC2 0 genome.wustl.edu 37 4 5696169 5696169 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 5696169 5696169 T C SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.343 p.T115A 0.389 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 70 0 0 45 13 22.4138 UBA6-AS1 0 genome.wustl.edu 37 4 68928500 68928500 + RNA SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 68928500 68928500 G A SNP UBA6-AS1 ENST00000500538 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 119 0 0 63 24 27.5862 ODAM 0 genome.wustl.edu 37 4 71068595 71068595 + Silent SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 71068595 71068595 T A SNP ODAM ENST00000396094 human ensembl 74_37 +1 known silent c.771 p.A257 0.000 NULL NULL - no_errors ODAM HGNC ENSG00000109205 54 0 0 39 12 23.5294 IBSP 0 genome.wustl.edu 37 4 88732666 88732666 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 88732666 88732666 A G SNP IBSP ENST00000226284 human ensembl 74_37 +1 known silent c.558 p.A186 0.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 48 0 0 30 12 28.5714 PPM1K 0 genome.wustl.edu 37 4 89198370 89198370 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 89198370 89198370 A C SNP PPM1K ENST00000608933 human ensembl 74_37 -1 known missense c.466 p.L156V 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1K HGNC ENSG00000163644 59 0 0 44 6 12 CTNND2 0 genome.wustl.edu 37 5 11098707 11098707 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 11098707 11098707 A C SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.2617 p.L873V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 89 0 0 72 13 15.2941 CTNND2 0 genome.wustl.edu 37 5 11364952 11364952 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 11364952 11364952 A G SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.1228 p.L410 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 51 0 0 50 19 27.5362 FAM170A 0 genome.wustl.edu 37 5 118969843 118969843 + Missense_Mutation SNP C C A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 118969843 118969843 C A SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.400 p.Q134K 0.043 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 96 0 0 56 4 6.66667 SNCAIP 0 genome.wustl.edu 37 5 121786608 121786608 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 121786608 121786608 A C SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2207 p.K736T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 97 0 0 40 21 34.4262 DNAH5 0 genome.wustl.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 13717530 13717530 T C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12599 p.K4200R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 53 0 0 45 16 26.2295 DNAH5 0 genome.wustl.edu 37 5 13751329 13751329 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 13751329 13751329 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11069 p.F3690C 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 DNAH5 HGNC ENSG00000039139 66 0 0 50 7 12.2807 DNAH5 0 genome.wustl.edu 37 5 13824402 13824402 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 13824402 13824402 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.6485 p.L2162R 0.967 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 82 0 0 53 9 14.5161 DNAH5 0 genome.wustl.edu 37 5 13864531 13864531 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 13864531 13864531 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.4571 p.L1524R 1.000 pfam_Dynein_heavy_dom-2 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 81 0 0 45 11 19.6429 HARS 0 genome.wustl.edu 37 5 140054668 140054668 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 140054668 140054668 A G SNP HARS ENST00000504156 human ensembl 74_37 -1 known silent c.1245 p.S415 0.970 pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 97 0 0 89 6 6.31579 PCDHA7 0 genome.wustl.edu 37 5 140216285 140216285 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 140216285 140216285 A C SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.2317 p.S773R 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 67 0 0 63 5 7.35294 PCDHB3 0 genome.wustl.edu 37 5 140481107 140481107 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 140481107 140481107 T G SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.874 p.F292V 0.687 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 PCDHB3 HGNC ENSG00000113205 69 0 0 46 20 30.303 PCDHB7 0 genome.wustl.edu 37 5 140554081 140554081 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 140554081 140554081 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1665 p.N555 1.000 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 PCDHB7 HGNC ENSG00000113212 135 0 0 133 96 41.9214 SLC25A2 0 genome.wustl.edu 37 5 140683221 140683221 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 140683221 140683221 A C SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known missense c.212 p.L71R 0.912 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 116 0 0 92 24 20.6897 PCDHGA7 0 genome.wustl.edu 37 5 140764249 140764249 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 140764249 140764249 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1783 p.D595N 1.000 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 PCDHGA7 HGNC ENSG00000253537 192 0 0 185 12 6.09137 PCDHGA12 0 genome.wustl.edu 37 5 140812471 140812471 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 140812471 140812471 G C SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.2145 p.R715S 0.572 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 205 0 0 248 14 5.34351 CNOT8 0 genome.wustl.edu 37 5 154251334 154251334 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 154251334 154251334 G A SNP CNOT8 ENST00000285896 human ensembl 74_37 +1 known missense c.518 p.R173H 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT8 HGNC ENSG00000155508 59 0 0 32 13 28.8889 CYFIP2 0 genome.wustl.edu 37 5 156786056 156786056 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 156786056 156786056 A C SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.2792 p.N931T 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 210 0 0 151 32 17.4863 C1QTNF2 0 genome.wustl.edu 37 5 159776372 159776372 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 159776372 159776372 G A SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known missense c.796 p.R266W 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 140 0 0 99 34 25.5639 FAM153A 0 genome.wustl.edu 37 5 177171957 177171957 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 177171957 177171957 G A SNP FAM153A ENST00000360669 human ensembl 74_37 -1 known missense c.40 p.R14W 0.012 prints_FAM153 prints_FAM153 - no_errors FAM153A HGNC ENSG00000170074 76 0 0 52 21 28.7671 ADAMTS12 0 genome.wustl.edu 37 5 33616122 33616122 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 33616122 33616122 T G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2199 p.E733D 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 78 0 0 53 9 14.5161 RXFP3 0 genome.wustl.edu 37 5 33937101 33937101 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 33937101 33937101 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.256 p.V86M 0.660 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 65 0 0 80 39 32.7731 PLCXD3 0 genome.wustl.edu 37 5 41382380 41382380 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 41382380 41382380 T G SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.360 p.K120N 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 125 0 0 78 31 28.4404 PLCXD3 0 genome.wustl.edu 37 5 41382435 41382435 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 41382435 41382435 T C SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.305 p.K102R 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 79 0 0 66 13 16.4557 HCN1 0 genome.wustl.edu 37 5 45645680 45645680 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 45645680 45645680 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.456 p.M152I 1.000 pfam_Ion_trans_N 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 50 0 0 43 10 18.8679 EMB 0 genome.wustl.edu 37 5 49701604 49701604 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 49701604 49701604 A C SNP EMB ENST00000303221 human ensembl 74_37 -1 known missense c.555 p.C185W 0.027 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors EMB HGNC ENSG00000170571 49 0 0 38 5 11.6279 ANKRD55 0 genome.wustl.edu 37 5 55412549 55412549 + Silent SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 55412549 55412549 C T SNP ANKRD55 ENST00000341048 human ensembl 74_37 -1 known silent c.858 p.E286 0.983 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 - no_errors ANKRD55 HGNC ENSG00000164512 59 0 0 34 13 27.6596 TPPP 0 genome.wustl.edu 37 5 665397 665397 + Silent SNP C C A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 665397 665397 C A SNP TPPP ENST00000360578 human ensembl 74_37 -1 known silent c.480 p.S160 0.979 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 41 0 0 36 14 28 GPR98 0 genome.wustl.edu 37 5 89949308 89949308 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 89949308 89949308 G C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3917 p.G1306A 0.991 superfamily_ConA-like_lec_gl_sf pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 37 0 0 21 7 25 GPR98 0 genome.wustl.edu 37 5 90079735 90079735 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 90079735 90079735 T C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.13514 p.I4505T 0.963 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 29 0 0 7 4 36.3636 SLC35F1 0 genome.wustl.edu 37 6 118635388 118635388 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 118635388 118635388 A G SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known silent c.1200 p.E400 1.000 NULL pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 73 0 0 73 10 12.0482 KIAA1244 0 genome.wustl.edu 37 6 138584055 138584055 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 138584055 138584055 T G SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.1435 p.F479V 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 24 0 0 24 9 27.2727 SYNE1 0 genome.wustl.edu 37 6 152557432 152557432 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 152557432 152557432 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.20206 p.K6736Q 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 27 0 0 27 7 20.5882 SYNE1 0 genome.wustl.edu 37 6 152722378 152722378 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 152722378 152722378 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.6924 p.Q2308H 0.126 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 62 0 0 47 9 16.0714 MYCT1 0 genome.wustl.edu 37 6 153019200 153019200 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 153019200 153019200 A G SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.163 p.S55G 0.998 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 35 0 0 16 8 33.3333 IGF2R 0 genome.wustl.edu 37 6 160445719 160445719 + Missense_Mutation SNP A A T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 160445719 160445719 A T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.629 p.N210I 0.212 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 108 0 0 86 27 23.8938 PARK2 0 genome.wustl.edu 37 6 162683735 162683735 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 162683735 162683735 T C SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.234 p.Q78 0.000 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 85 0 0 93 8 7.92079 C6orf118 0 genome.wustl.edu 37 6 165723051 165723051 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 165723051 165723051 A C SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.25 p.L9V 0.026 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 54 0 0 47 3 6 PRR18 0 genome.wustl.edu 37 6 166721313 166721313 + Silent SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 166721313 166721313 G C SNP PRR18 ENST00000322583 human ensembl 74_37 -1 known silent c.318 p.T106 0.020 NULL NULL - no_errors PRR18 HGNC ENSG00000176381 8 0 0 10 8 44.4444 FAM8A1 0 genome.wustl.edu 37 6 17600920 17600920 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 17600920 17600920 G A SNP FAM8A1 ENST00000259963 human ensembl 74_37 +1 known missense c.280 p.E94K 0.752 NULL pfam_RDD - no_errors FAM8A1 HGNC ENSG00000137414 39 0 0 44 5 10.2041 NUP153 0 genome.wustl.edu 37 6 17629488 17629488 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 17629488 17629488 A C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.3035 p.F1012C 1.000 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 57 0 0 35 14 28.5714 TNXB 0 genome.wustl.edu 37 6 32011292 32011292 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 32011292 32011292 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.11566 p.E3856K 0.674 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 14 0 0 20 7 25.9259 HLA-DPB1 0 genome.wustl.edu 37 6 33048641 33048641 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 33048641 33048641 A C SNP HLA-DPB1 ENST00000418931 human ensembl 74_37 +1 known missense c.293 p.K98T 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DPB1 HGNC ENSG00000223865 86 0 0 90 23 20.354 RXRB 0 genome.wustl.edu 37 6 33166234 33166234 + Nonsense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 33166234 33166234 G C SNP RXRB ENST00000374680 human ensembl 74_37 -1 known nonsense c.491 p.S164* 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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 159 0 0 138 34 19.7674 PKHD1 0 genome.wustl.edu 37 6 51656136 51656136 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 51656136 51656136 A G SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.8338 p.F2780L 0.523 pfam_G8_domain pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 77 0 0 89 14 13.5922 GSTA4 0 genome.wustl.edu 37 6 52843163 52843163 + RNA SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 52843163 52843163 T G SNP GSTA4 ENST00000477599 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GSTA4 HGNC ENSG00000170899 31 0 0 36 18 33.3333 TINAG 0 genome.wustl.edu 37 6 54212312 54212312 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 54212312 54212312 G A SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.896 p.R299H 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 45 0 0 36 15 29.4118 GFRAL 0 genome.wustl.edu 37 6 55266591 55266591 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 55266591 55266591 T G SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known silent c.1125 p.T375 0.952 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 75 0 0 27 6 18.1818 COL21A1 0 genome.wustl.edu 37 6 55990378 55990378 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 55990378 55990378 A G SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.1637 p.F546S 1.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 19 0 0 16 5 23.8095 EYS 0 genome.wustl.edu 37 6 66094372 66094372 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 66094372 66094372 T A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1206 p.E402D 1.000 smart_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 32 0 0 22 3 12 COL19A1 0 genome.wustl.edu 37 6 70639447 70639447 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 70639447 70639447 T A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.521 p.L174H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 81 0 0 92 18 16.3636 TBX18 0 genome.wustl.edu 37 6 85466473 85466473 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 6 85466473 85466473 T G SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.714 p.Q238H 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 61 0 0 60 10 14.2857 KMT2E 0 genome.wustl.edu 37 7 104753074 104753074 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 104753074 104753074 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.4871 p.A1624V 0.012 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 146 0 0 103 35 25.3623 DOCK4 0 genome.wustl.edu 37 7 111387326 111387326 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 111387326 111387326 T G SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.4590 p.Q1530H 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 37 0 0 19 8 29.6296 PPP1R3A 0 genome.wustl.edu 37 7 113518066 113518066 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 113518066 113518066 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.3081 p.E1027D 0.097 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 194 0 0 106 42 28.3784 PTPRZ1 0 genome.wustl.edu 37 7 121651971 121651971 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 121651971 121651971 T C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.2871 p.T957 0.693 NULL 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 140 0 0 64 33 34.0206 SMO 0 genome.wustl.edu 37 7 128846344 128846344 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 128846344 128846344 T C SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.1180 p.Y394H 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like 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 238 0 0 204 60 22.7273 FERD3L 0 genome.wustl.edu 37 7 19184942 19184942 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 19184942 19184942 T C SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.44 p.D15G 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 61 0 0 53 20 27.3973 DNAH11 0 genome.wustl.edu 37 7 21629008 21629008 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 21629008 21629008 A C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.2156 p.N719T 1.000 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 DNAH11 HGNC ENSG00000105877 71 0 0 36 13 26.5306 BBS9 0 genome.wustl.edu 37 7 33427710 33427710 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 33427710 33427710 C T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.2069 p.A690V 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 156 0 0 111 37 25 AMPH 0 genome.wustl.edu 37 7 38462019 38462019 + Splice_Site SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 38462019 38462019 A G SNP AMPH ENST00000356264 human ensembl 74_37 -1 known splice_site c.1272+2 e16+2 1.000 - - - no_errors AMPH HGNC ENSG00000078053 149 0 0 92 32 25.8065 GLI3 0 genome.wustl.edu 37 7 42005876 42005876 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 42005876 42005876 T G SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2795 p.K932T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 39 0 0 56 17 23.2877 ZMIZ2 0 genome.wustl.edu 37 7 44801438 44801438 + Silent SNP C C G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 44801438 44801438 C G SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known silent c.1530 p.L510 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 65 0 0 62 9 12.6761 ABCA13 0 genome.wustl.edu 37 7 48312083 48312083 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 48312083 48312083 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2820 p.E940D 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 34 0 0 43 15 25.8621 ABCA13 0 genome.wustl.edu 37 7 48313132 48313132 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 48313132 48313132 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.3869 p.E1290A 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 15 0 0 7 4 36.3636 COL28A1 0 genome.wustl.edu 37 7 7412809 7412809 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 7412809 7412809 G A SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.2728 p.R910C 0.927 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 55 0 0 27 28 50.9091 MAGI2 0 genome.wustl.edu 37 7 77885431 77885431 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 77885431 77885431 G C SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.1876 p.Q626E 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 34 0 0 20 8 28.5714 GLCCI1 0 genome.wustl.edu 37 7 8126036 8126036 + Silent SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 8126036 8126036 G A SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known silent c.1512 p.T504 0.004 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 348 0 0 182 182 50 HGF 0 genome.wustl.edu 37 7 81346652 81346652 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 81346652 81346652 T G SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.1301 p.K434T 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 94 0 0 46 23 33.3333 SEMA3E 0 genome.wustl.edu 37 7 82996981 82996981 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 82996981 82996981 T C SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.2249 p.K750R 1.000 NULL pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 179 0 0 147 48 24.6154 COL1A2 0 genome.wustl.edu 37 7 94052389 94052389 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 94052389 94052389 T G SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2524 p.F842V 0.997 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 137 0 0 98 36 26.8657 TRRAP 0 genome.wustl.edu 37 7 98547092 98547092 + Missense_Mutation SNP A A T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 98547092 98547092 A T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.4820 p.N1607I 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 74 0 0 73 27 27 CNPY4 0 genome.wustl.edu 37 7 99722428 99722428 + Nonsense_Mutation SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 7 99722428 99722428 G T SNP CNPY4 ENST00000262932 human ensembl 74_37 +1 known nonsense c.664 p.E222* 0.277 NULL pfam_DUF3456 - no_errors CNPY4 HGNC ENSG00000166997 115 0 0 68 36 34.6154 RRM2B 0 genome.wustl.edu 37 8 103226371 103226371 + Missense_Mutation SNP A A T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 103226371 103226371 A T SNP RRM2B ENST00000251810 human ensembl 74_37 -1 known missense c.700 p.F234I 1.000 pfam_RNR_small,superfamily_Ferritin-like_SF pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2B HGNC ENSG00000048392 63 0 0 48 7 12.7273 RIMS2 0 genome.wustl.edu 37 8 105261784 105261784 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 105261784 105261784 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3659 p.L1220P 1.000 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 51 0 0 34 5 12.8205 CSMD3 0 genome.wustl.edu 37 8 113529326 113529326 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 113529326 113529326 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.4693 p.R1565 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 88 0 0 68 10 12.8205 LONRF1 0 genome.wustl.edu 37 8 12586497 12586497 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 12586497 12586497 T C SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known silent c.1923 p.T641 0.995 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N 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 94 0 0 59 4 6.34921 ZNF251 0 genome.wustl.edu 37 8 145948654 145948654 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 145948654 145948654 C T SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.391 p.A131T 0.007 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 ZNF251 HGNC ENSG00000198169 51 0 0 55 14 20.2899 SDAD1P1 0 genome.wustl.edu 37 8 26237619 26237619 + RNA SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 26237619 26237619 T G SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDAD1P1 HGNC ENSG00000228451 59 0 0 34 9 20.9302 NRG1 0 genome.wustl.edu 37 8 32621594 32621594 + Missense_Mutation SNP C C T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 32621594 32621594 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1621 p.P541S 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 51 0 0 36 21 36.8421 ADAM18 0 genome.wustl.edu 37 8 39587554 39587554 + RNA SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 39587554 39587554 T G SNP ADAM18 ENST00000523755 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAM18 HGNC ENSG00000168619 32 0 0 16 4 20 PREX2 0 genome.wustl.edu 37 8 69028107 69028107 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 69028107 69028107 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3266 p.V1089A 1.000 NULL 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 97 0 0 101 18 15.1261 NCOA2 0 genome.wustl.edu 37 8 71036127 71036127 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 71036127 71036127 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.4285 p.P1429S 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,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 NCOA2 HGNC ENSG00000140396 39 0 0 49 6 10.9091 KCNB2 0 genome.wustl.edu 37 8 73480109 73480109 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 73480109 73480109 A G SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.140 p.E47G 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 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 139 0 0 166 24 12.6316 ZFHX4 0 genome.wustl.edu 37 8 77764494 77764494 + Missense_Mutation SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 77764494 77764494 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.5337 p.K1779N 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 ZFHX4 HGNC ENSG00000091656 19 0 0 15 11 42.3077 DECR1 0 genome.wustl.edu 37 8 91033213 91033213 + Missense_Mutation SNP C C G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 8 91033213 91033213 C G SNP DECR1 ENST00000220764 human ensembl 74_37 +1 known missense c.494 p.T165S 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 51 0 0 49 8 14.0351 CCDC180 0 genome.wustl.edu 37 9 100124034 100124034 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 100124034 100124034 A C SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.3642 p.E1214D 0.001 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 64 0 0 49 12 19.6721 OR13F1 0 genome.wustl.edu 37 9 107267289 107267289 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 107267289 107267289 T G SNP OR13F1 ENST00000334726 human ensembl 74_37 +1 known missense c.746 p.V249G 0.228 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC ENSG00000186881 132 0 0 60 30 33.3333 OR1L6 0 genome.wustl.edu 37 9 125512140 125512140 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 125512140 125512140 A C SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known missense c.122 p.N41T 0.304 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 203 0 0 135 51 27.4194 SWI5 0 genome.wustl.edu 37 9 131038425 131038425 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 131038425 131038425 A C SNP SWI5 ENST00000320188 human ensembl 74_37 +1 known missense c.1 p.M1L 0.000 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 143 0 0 106 25 19.084 TRUB2 0 genome.wustl.edu 37 9 131077859 131077859 + Missense_Mutation SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 131077859 131077859 G T SNP TRUB2 ENST00000372890 human ensembl 74_37 -1 known missense c.365 p.A122D 0.986 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC ENSG00000167112 40 0 0 13 6 31.5789 ZER1 0 genome.wustl.edu 37 9 131515471 131515471 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 131515471 131515471 G A SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.718 p.R240W 0.999 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 10 0 0 10 2 16.6667 COL5A1 0 genome.wustl.edu 37 9 137711978 137711978 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 137711978 137711978 T G SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.4463 p.I1488S 1.000 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 93 0 0 37 62 62.6263 DENND4C 0 genome.wustl.edu 37 9 19372168 19372168 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 19372168 19372168 T G SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.5727 p.I1909M 1.000 NULL 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 DENND4C HGNC ENSG00000137145 114 0 0 53 27 33.75 SLC24A2 0 genome.wustl.edu 37 9 19786835 19786835 + Silent SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 19786835 19786835 A C SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known silent c.30 p.T10 0.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 116 0 0 79 35 30.7018 TAF1L 0 genome.wustl.edu 37 9 32630782 32630782 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 32630782 32630782 A C SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.4796 p.V1599G 1.000 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 109 0 0 43 22 33.8462 TAF1L 0 genome.wustl.edu 37 9 32632465 32632465 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 32632465 32632465 T C SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3113 p.K1038R 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 315 0 0 190 49 20.5021 SIT1 0 genome.wustl.edu 37 9 35650844 35650844 + Missense_Mutation SNP G G C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 35650844 35650844 G C SNP SIT1 ENST00000259608 human ensembl 74_37 -1 known missense c.7 p.Q3E 0.000 NULL NULL - no_errors SIT1 HGNC ENSG00000137078 17 0 0 16 6 27.2727 ENSG00000224267 0 genome.wustl.edu 37 9 68324718 68324718 + RNA SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 68324718 68324718 A G SNP ENSG00000224267 ENST00000431077 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-149F8.5 Clone_based_vega_gene ENSG00000224267 17 0 0 10 4 28.5714 APBA1 0 genome.wustl.edu 37 9 72131002 72131002 + Silent SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 72131002 72131002 T C SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known silent c.1125 p.K375 1.000 NULL 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 144 0 0 89 41 31.5385 NXF5 0 genome.wustl.edu 37 X 101091790 101091790 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 101091790 101091790 A C SNP NXF5 ENST00000263032 human ensembl 74_37 -1 known missense c.1096 p.L366V 0.015 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 137 0 0 65 16 19.7531 ARHGEF6 0 genome.wustl.edu 37 X 135750188 135750188 + Nonstop_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 135750188 135750188 T G SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known nonstop c.2331 p.*777Y 0.963 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 134 0 0 63 20 24.0964 MCF2 0 genome.wustl.edu 37 X 138714595 138714595 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 138714595 138714595 A C SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.505 p.L169V 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 69 0 0 27 9 25 MAGEC3 0 genome.wustl.edu 37 X 140953386 140953386 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 140953386 140953386 T G SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.253 p.F85V 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 107 0 0 45 25 35.7143 MAGEC1 0 genome.wustl.edu 37 X 140994814 140994814 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 140994814 140994814 T C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1624 p.S542P 0.002 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 462 0 0 213 60 21.978 PASD1 0 genome.wustl.edu 37 X 150773196 150773196 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 150773196 150773196 T G SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.107 p.V36G 0.000 superfamily_PAS,smart_PAS superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 35 0 0 8 5 38.4615 ATP2B3 0 genome.wustl.edu 37 X 152830478 152830478 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 152830478 152830478 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.3259 p.E1087K 0.668 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 33 0 0 7 5 41.6667 FLNA 0 genome.wustl.edu 37 X 153592919 153592919 + Missense_Mutation SNP G G A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 153592919 153592919 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.1997 p.A666V 0.988 superfamily_Ig_E-set,smart_Filamin 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 102 0 0 39 40 50.6329 GAB3 0 genome.wustl.edu 37 X 153940729 153940729 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 153940729 153940729 T G SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known missense c.844 p.S282R 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 172 0 0 104 33 24.0876 REPS2 0 genome.wustl.edu 37 X 17153480 17153480 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 17153480 17153480 A C SNP REPS2 ENST00000357277 human ensembl 74_37 +1 known missense c.1759 p.S587R 0.027 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 239 0 0 119 62 34.2541 MAGEB3 0 genome.wustl.edu 37 X 30254229 30254229 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 30254229 30254229 A G SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known missense c.188 p.K63R 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 40 0 0 22 4 15.3846 DMD 0 genome.wustl.edu 37 X 32360278 32360278 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 32360278 32360278 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.5861 p.K1954R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 56 0 0 34 8 19.0476 DMD 0 genome.wustl.edu 37 X 32430014 32430014 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 32430014 32430014 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.4088 p.K1363T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 34 0 0 15 14 48.2759 MAGEB16 0 genome.wustl.edu 37 X 35821201 35821201 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 35821201 35821201 A G SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known silent c.984 p.K328 0.158 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 49 0 0 28 5 15.1515 CACNA1F 0 genome.wustl.edu 37 X 49071806 49071806 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 49071806 49071806 T G SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.3467 p.N1156T 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 46 0 0 14 18 56.25 CCNB3 0 genome.wustl.edu 37 X 50051704 50051704 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 50051704 50051704 A C SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.535 p.K179Q 0.001 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 120 0 0 31 36 53.7313 GPR173 0 genome.wustl.edu 37 X 53106155 53106155 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 53106155 53106155 A G SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.352 p.S118G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 110 0 0 84 13 13.4021 PFKFB1 0 genome.wustl.edu 37 X 54987257 54987257 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 54987257 54987257 T A SNP PFKFB1 ENST00000375006 human ensembl 74_37 -1 known missense c.317 p.K106M 1.000 pfam_6Phosfructo_kin,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 72 0 0 40 11 21.5686 APEX2 0 genome.wustl.edu 37 X 55026917 55026917 + Missense_Mutation SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 55026917 55026917 A G SNP APEX2 ENST00000374987 human ensembl 74_37 +1 known missense c.62 p.N21S 0.004 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX2 HGNC ENSG00000169188 19 0 0 11 2 15.3846 KIAA2022 0 genome.wustl.edu 37 X 73963789 73963789 + Silent SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 73963789 73963789 T G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known silent c.603 p.S201 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 148 0 0 57 13 18.5714 CYSLTR1 0 genome.wustl.edu 37 X 77528938 77528938 + Silent SNP A A G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 77528938 77528938 A G SNP CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known silent c.306 p.A102 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 52 0 0 22 15 40.5405 P2RY10 0 genome.wustl.edu 37 X 78216154 78216154 + Missense_Mutation SNP T T A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 78216154 78216154 T A SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.137 p.I46N 0.996 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 127 0 0 94 7 6.93069 FAM46D 0 genome.wustl.edu 37 X 79698243 79698243 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 79698243 79698243 A C SNP FAM46D ENST00000308293 human ensembl 74_37 +1 known missense c.205 p.S69R 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 99 0 0 56 14 20 CYLC1 0 genome.wustl.edu 37 X 83127964 83127964 + Missense_Mutation SNP A A C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 83127964 83127964 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.248 p.K83T 0.052 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 34 0 0 18 6 25 PCDH11X 0 genome.wustl.edu 37 X 91133643 91133643 + Missense_Mutation SNP G G T TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 91133643 91133643 G T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.2404 p.D802Y 0.645 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 131 0 0 71 24 25.2632 NAP1L3 0 genome.wustl.edu 37 X 92927391 92927391 + Missense_Mutation SNP T T C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 92927391 92927391 T C SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.913 p.R305G 0.758 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 97 0 0 50 3 5.66038 TBL1X 0 genome.wustl.edu 37 X 9665416 9665416 + Missense_Mutation SNP T T G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 9665416 9665416 T G SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.1061 p.I354R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 149 0 0 60 68 53.125 RBM25 0 genome.wustl.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 14 73572607 73572608 AG - DEL RBM25 ENST00000261973 human ensembl 74_37 +1 known frame_shift_del c.1195_1196 p.E402fs 0.998:1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 24 0 0 31 5 13.8889 B4GALT6 0 genome.wustl.edu 37 18 29218671 29218671 + Frame_Shift_Del DEL A A - TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 29218671 29218671 A - DEL B4GALT6 ENST00000306851 human ensembl 74_37 -1 known frame_shift_del c.524 p.F175fs 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 69 0 0 74 15 16.8539 KLHL14 0 genome.wustl.edu 37 18 30275464 30275466 + In_Frame_Del DEL AAG AAG - TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 18 30275464 30275466 AAG - DEL KLHL14 ENST00000359358 human ensembl 74_37 -1 known in_frame_del c.1121_1119 p.F373in_frame_del 1.000:0.998:1.000 pfam_Kelch_1,smart_Kelch_1,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 KLHL14 HGNC ENSG00000197705 65 0 0 36 4 10 KCNB1 0 genome.wustl.edu 37 20 47990175 47990175 + Frame_Shift_Del DEL T T - TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 20 47990175 47990175 T - DEL KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_del c.1922 p.N641fs 1.000 pfam_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_Kv2.1,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 KCNB1 HGNC ENSG00000158445 105 0 0 162 19 10.4972 IFT57 0 genome.wustl.edu 37 3 107910459 107910460 + Frame_Shift_Del DEL AT AT - TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 107910459 107910460 AT - DEL IFT57 ENST00000264538 human ensembl 74_37 -1 known frame_shift_del c.686_685 p.I229fs 1.000:1.000 pfam_Intra-flagellar_transport_57 pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC ENSG00000114446 48 0 0 24 19 44.186 COL6A5 0 genome.wustl.edu 37 3 130095304 130095306 + In_Frame_Del DEL AAG AAG - TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 130095304 130095306 AAG - DEL COL6A5 ENST00000265379 human ensembl 74_37 +1 known in_frame_del c.292_294 p.K99in_frame_del 1.000:1.000:0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 34 0 0 18 2 10 TF 0 genome.wustl.edu 37 3 133476713 133476714 + Frame_Shift_Ins INS - - C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 3 133476713 133476714 - C INS TF ENST00000402696 human ensembl 74_37 +1 known frame_shift_ins c.971_972 p.R327fs 0.061:0.032 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 93 0 0 51 13 20.3125 GRK4 0 genome.wustl.edu 37 4 3040278 3040279 + RNA INS - - G TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 4 3040278 3040279 - G INS GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GRK4 HGNC ENSG00000125388 41 0 0 28 5 15.1515 BRIX1 0 genome.wustl.edu 37 5 34925328 34925329 + Splice_Site INS - - A TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 5 34925328 34925329 - A INS BRIX1 ENST00000336767 human ensembl 74_37 +1 known splice_site_ins c.793-3_793-2 e10-2 0.213:0.997 - - - no_errors BRIX1 HGNC ENSG00000113460 12 0 0 16 2 11.1111 ZNF484 0 genome.wustl.edu 37 9 95609123 95609123 + Frame_Shift_Del DEL G G - TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a 9 95609123 95609123 G - DEL ZNF484 ENST00000395506 human ensembl 74_37 -1 known frame_shift_del c.1952 p.S651fs 0.048 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 ZNF484 HGNC ENSG00000127081 115 0 0 41 25 37.8788 PCDH11X 0 genome.wustl.edu 37 X 91133642 91133643 + Frame_Shift_Ins INS - - C TCGA-BR-8485-01A-11D-2394-08 TCGA-BR-8485-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 402ccb96-9853-435a-8b18-f7331e3ef5d9 aeb401f8-7686-47d9-a690-d7fda664079a X 91133642 91133643 - C INS PCDH11X ENST00000373094 human ensembl 74_37 +1 known frame_shift_ins c.2403_2404 p.D801fs 0.583:0.645 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 163 0 0 88 23 20.7207