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 AP4B1 0 genome.wustl.edu 37 1 114437899 114437899 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 114437899 114437899 C T SNP AP4B1 ENST00000256658 human ensembl 74_37 -1 known missense c.2008 p.A670T 0.995 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 114 0 0 70 33 32.0388 TDRD10 0 genome.wustl.edu 37 1 154516536 154516536 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 154516536 154516536 A G SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known missense c.601 p.T201A 0.965 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 182 1 0.546448 218 25 10.2881 CD1E 0 genome.wustl.edu 37 1 158324409 158324409 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 158324409 158324409 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.301 p.F101V 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 100 0 0 76 27 26.2136 OR10Z1 0 genome.wustl.edu 37 1 158576892 158576892 + Silent SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 158576892 158576892 T C SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.664 p.L222 0.489 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 293 0 0 339 62 15.4613 SPTA1 0 genome.wustl.edu 37 1 158606534 158606534 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 158606534 158606534 A C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5207 p.V1736G 1.000 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 176 0 0 206 66 24.2647 LOC100131825 0 genome.wustl.edu 37 1 159169651 159169651 + Splice_Site SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 159169651 159169651 T G SNP LOC100131825 ENST00000415675 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 68 0 0 76 17 18.2796 FCRLA 0 genome.wustl.edu 37 1 161682977 161682977 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 161682977 161682977 C T SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known missense c.956 p.P319L 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 192 0 0 191 85 30.7971 PIGC 0 genome.wustl.edu 37 1 172411186 172411186 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 172411186 172411186 G A SNP PIGC ENST00000258324 human ensembl 74_37 -1 known missense c.577 p.L193F 1.000 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 - no_errors PIGC HGNC ENSG00000135845 81 0 0 99 36 26.6667 TNFSF18 0 genome.wustl.edu 37 1 173010835 173010835 + Nonsense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 173010835 173010835 C T SNP TNFSF18 ENST00000404377 human ensembl 74_37 -1 known nonsense c.272 p.W91* 1.000 superfamily_Tumour_necrosis_fac-like_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom - no_errors TNFSF18 HGNC ENSG00000120337 212 0 0 236 40 14.4928 C1orf27 0 genome.wustl.edu 37 1 186388262 186388262 + RNA SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 186388262 186388262 G A SNP C1orf27 ENST00000461662 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors C1orf27 HGNC ENSG00000157181 17 0 0 9 4 30.7692 CENPF 0 genome.wustl.edu 37 1 214814102 214814102 + Missense_Mutation SNP G G T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 214814102 214814102 G T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.2421 p.M807I 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 49 0 0 75 22 22.6804 ESRRG 0 genome.wustl.edu 37 1 216692753 216692753 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 216692753 216692753 C T SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known silent c.873 p.T291 0.836 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 59 0 0 55 13 19.1176 EPRS 0 genome.wustl.edu 37 1 220193402 220193402 + Missense_Mutation SNP A A T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 220193402 220193402 A T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.1277 p.L426Q 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 187 0 0 160 75 31.9149 KIAA1804 0 genome.wustl.edu 37 1 233498012 233498012 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 233498012 233498012 G A SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known missense c.1525 p.D509N 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 110 0 0 126 10 7.35294 AHCTF1 0 genome.wustl.edu 37 1 247054343 247054343 + Silent SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 247054343 247054343 A G SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.1992 p.N664 0.998 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 74 0 0 67 25 27.1739 ZNF670 0 genome.wustl.edu 37 1 247201286 247201286 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 247201286 247201286 A C SNP ZNF670 ENST00000366503 human ensembl 74_37 -1 known missense c.635 p.L212R 0.029 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 ZNF670 HGNC ENSG00000135747 82 0 0 73 23 23.9583 OR2L3 0 genome.wustl.edu 37 1 248224727 248224727 + Silent SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 248224727 248224727 T C SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.744 p.T248 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 279 0 0 364 30 7.61421 SLC9A1 0 genome.wustl.edu 37 1 27434258 27434258 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 27434258 27434258 C T SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.1163 p.S388N 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 19 0 0 8 8 50 RBBP4 0 genome.wustl.edu 37 1 33134400 33134400 + Nonsense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 33134400 33134400 G A SNP RBBP4 ENST00000492348 human ensembl 74_37 +1 known nonsense c.225 p.W75* 1.000 NULL pfam_Histone-bd_RBBP4_N - no_errors RBBP4 HGNC ENSG00000162521 138 0 0 113 45 28.481 TEKT2 0 genome.wustl.edu 37 1 36553335 36553335 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 36553335 36553335 T G SNP TEKT2 ENST00000207457 human ensembl 74_37 +1 known missense c.1006 p.Y336D 1.000 pfam_Tektin,superfamily_Prefoldin,prints_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 36 0 0 38 5 11.6279 MAP7D1 0 genome.wustl.edu 37 1 36642154 36642154 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 36642154 36642154 C T SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.1205 p.P402L 0.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 14 0 0 31 3 8.82353 RLF 0 genome.wustl.edu 37 1 40703533 40703533 + Missense_Mutation SNP G G T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 40703533 40703533 G T SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.3159 p.R1053S 0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 112 0 0 133 9 6.33803 SLFNL1 0 genome.wustl.edu 37 1 41483646 41483646 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 41483646 41483646 G A SNP SLFNL1 ENST00000302946 human ensembl 74_37 -1 known silent c.618 p.I206 0.737 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 31 0 0 28 19 40.4255 PIK3R3 0 genome.wustl.edu 37 1 46597556 46597556 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 46597556 46597556 C T SNP PIK3R3 ENST00000262741 human ensembl 74_37 -1 known silent c.69 p.S23 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 137 0 0 181 40 18.0995 SLC35D1 0 genome.wustl.edu 37 1 67512967 67512967 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 67512967 67512967 T G SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known missense c.617 p.K206T 1.000 pfam_Tpt_PEP_trans_dom pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 50 0 0 53 5 8.62069 COL24A1 0 genome.wustl.edu 37 1 86355275 86355275 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 86355275 86355275 T G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2944 p.S982R 0.570 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 140 0 0 107 25 18.9394 HFM1 0 genome.wustl.edu 37 1 91850767 91850767 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 91850767 91850767 G A SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.779 p.S260F 0.039 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 97 0 0 48 17 26.1538 FAM196A 0 genome.wustl.edu 37 10 128974010 128974010 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 10 128974010 128974010 G A SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.650 p.S217F 0.000 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 60 0 0 50 11 18.0328 CUBN 0 genome.wustl.edu 37 10 17087092 17087092 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 10 17087092 17087092 T G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.3586 p.K1196Q 0.389 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 155 0 0 123 40 24.5399 BTAF1 0 genome.wustl.edu 37 10 93786897 93786897 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 10 93786897 93786897 T G SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.5246 p.V1749G 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 114 1 0.869565 78 45 36.5854 DDI1 0 genome.wustl.edu 37 11 103907674 103907674 + Missense_Mutation SNP G G T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 11 103907674 103907674 G T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.124 p.V42F 0.007 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 259 0 0 334 50 13.0208 HBG1 0 genome.wustl.edu 37 11 5269719 5269719 + Splice_Site SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 11 5269719 5269719 T A SNP HBG1 ENST00000330597 human ensembl 74_37 -1 known splice_site c.316-2 e3-2 1.000 - - - no_errors HBG1 HGNC ENSG00000213934 44 0 0 26 37 58.7302 OR4C15 0 genome.wustl.edu 37 11 55322842 55322842 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 11 55322842 55322842 A C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.1060 p.I354L 0.009 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 149 0 0 65 135 67.5 OR8H1 0 genome.wustl.edu 37 11 56057755 56057755 + Silent SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 11 56057755 56057755 T G SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.784 p.R262 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 148 0 0 73 126 63.3166 OR52N4 0 genome.wustl.edu 37 11 5776694 5776694 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 11 5776694 5776694 A G SNP OR52N4 ENST00000317254 human ensembl 74_37 +1 known missense c.724 p.T242A 0.996 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 OR52N4 HGNC ENSG00000181074 269 0 0 97 253 72.2857 OVCH2 0 genome.wustl.edu 37 11 7722004 7722004 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 11 7722004 7722004 C T SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known missense c.740 p.R247Q 0.016 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,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 OVCH2 HGNC ENSG00000183378 26 0 0 10 35 77.7778 FAT3 0 genome.wustl.edu 37 11 92616518 92616518 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 11 92616518 92616518 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12896 p.C4299Y 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 93 0 0 32 80 71.4286 SH2B3 0 genome.wustl.edu 37 12 111884628 111884628 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 12 111884628 111884628 G A SNP SH2B3 ENST00000341259 human ensembl 74_37 +1 putative missense c.804 p.M268I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Phe_ZIP,pfam_SH2,pfam_Pleckstrin_homology,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B3 HGNC ENSG00000111252 45 0 0 43 5 10.4167 SLCO1B7 0 genome.wustl.edu 37 12 21200087 21200087 + Silent SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 12 21200087 21200087 T G SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known silent c.1071 p.T357 0.993 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 40 0 0 34 6 15 KCNA5 0 genome.wustl.edu 37 12 5154807 5154807 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 12 5154807 5154807 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.1494 p.S498 0.002 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 182 0 0 215 66 23.4875 GNB3 0 genome.wustl.edu 37 12 6954785 6954785 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 12 6954785 6954785 G A SNP GNB3 ENST00000229264 human ensembl 74_37 +1 known silent c.735 p.S245 0.027 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC ENSG00000111664 162 0 0 183 65 26.2097 CD163L1 0 genome.wustl.edu 37 12 7528460 7528460 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 12 7528460 7528460 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2522 p.A841V 0.002 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 147 0 0 174 29 14.2857 SLC9A7P1 0 genome.wustl.edu 37 12 98849655 98849655 + RNA SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 12 98849655 98849655 C A SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 108 0 0 85 24 22.0183 SACS 0 genome.wustl.edu 37 13 23905608 23905608 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 13 23905608 23905608 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.12407 p.L4136R 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 188 1 0.529101 180 64 26.2295 DCLK1 0 genome.wustl.edu 37 13 36686252 36686252 + Silent SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 13 36686252 36686252 A C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known silent c.477 p.A159 0.052 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 169 0 0 186 29 13.4884 SPG20 0 genome.wustl.edu 37 13 36888456 36888456 + Missense_Mutation SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 13 36888456 36888456 T C SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.1391 p.E464G 1.000 pfam_Senescence/spartin pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 259 0 0 214 68 24.1135 FOXO1 0 genome.wustl.edu 37 13 41134248 41134248 + Silent SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 13 41134248 41134248 T C SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known silent c.1380 p.G460 0.423 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 77 0 0 74 35 32.1101 RTL1 0 genome.wustl.edu 37 14 101350961 101350961 + Missense_Mutation SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 14 101350961 101350961 C A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.165 p.K55N 0.004 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 45 0 0 25 15 37.5 COCH 0 genome.wustl.edu 37 14 31349900 31349900 + Missense_Mutation SNP A A T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 14 31349900 31349900 A T SNP COCH ENST00000216361 human ensembl 74_37 +1 known missense c.589 p.I197F 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 282 0 0 247 39 13.6364 EXOC5 0 genome.wustl.edu 37 14 57675476 57675476 + Missense_Mutation SNP G G C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 14 57675476 57675476 G C SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known missense c.1978 p.L660V 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 64 0 0 55 37 40.2174 ARID4A 0 genome.wustl.edu 37 14 58832906 58832906 + Missense_Mutation SNP C C G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 14 58832906 58832906 C G SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known missense c.3481 p.P1161A 0.994 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 261 0 0 207 18 8 SNRPN 0 genome.wustl.edu 37 15 25219561 25219561 + RNA SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 15 25219561 25219561 A C SNP SNRPN ENST00000553597 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNRPN HGNC ENSG00000128739 181 0 0 166 40 19.4175 SNHG14 0 genome.wustl.edu 37 15 25492381 25492381 + RNA SNP G G T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 15 25492381 25492381 G T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 81 0 0 65 22 25.2874 PAQR5 0 genome.wustl.edu 37 15 69696009 69696009 + Nonsense_Mutation SNP G G T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 15 69696009 69696009 G T SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known nonsense c.841 p.E281* 0.046 NULL pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 148 0 0 158 12 7.05882 ACAN 0 genome.wustl.edu 37 15 89392845 89392845 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 15 89392845 89392845 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.1909 p.V637I 0.971 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 25 0 0 20 9 31.0345 SNX29 0 genome.wustl.edu 37 16 12662459 12662459 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 16 12662459 12662459 C T SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known silent c.1260 p.N420 0.958 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 57 0 0 46 24 34.2857 GPR139 0 genome.wustl.edu 37 16 20043132 20043132 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 16 20043132 20043132 C T SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known silent c.987 p.P329 0.086 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 302 0 0 249 78 23.8532 ACSM2B 0 genome.wustl.edu 37 16 20559473 20559473 + Nonsense_Mutation SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 16 20559473 20559473 C A SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known nonsense c.1009 p.G337* 0.211 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 364 0 0 256 131 33.8501 MMP2 0 genome.wustl.edu 37 16 55516874 55516874 + Silent SNP G G C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 16 55516874 55516874 G C SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.207 p.V69 1.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 119 0 0 109 54 33.1288 ADAT1 0 genome.wustl.edu 37 16 75636996 75636996 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 16 75636996 75636996 G A SNP ADAT1 ENST00000307921 human ensembl 74_37 -1 known missense c.1363 p.P455S 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ENSG00000065457 644 0 0 570 123 17.7489 MYH8 0 genome.wustl.edu 37 17 10303964 10303964 + Missense_Mutation SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 17 10303964 10303964 T A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.3478 p.T1160S 0.990 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 266 0 0 283 26 8.41424 ANKRD13B 0 genome.wustl.edu 37 17 27936244 27936244 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 17 27936244 27936244 G A SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known missense c.706 p.A236T 0.997 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 65 0 0 119 23 16.1972 ATAD5 0 genome.wustl.edu 37 17 29167747 29167747 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 17 29167747 29167747 G A SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.2189 p.R730H 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 198 0 0 171 26 13.198 ACACA 0 genome.wustl.edu 37 17 35766476 35766476 + RNA SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 17 35766476 35766476 A C SNP ACACA ENST00000587545 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ACACA HGNC ENSG00000132142 87 0 0 269 32 10.6312 FMNL1 0 genome.wustl.edu 37 17 43322779 43322779 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 17 43322779 43322779 C T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.2888 p.A963V 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 123 0 0 139 32 18.7135 CA10 0 genome.wustl.edu 37 17 50008436 50008436 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 17 50008436 50008436 G A SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.211 p.R71W 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 264 0 0 773 79 9.2723 DDX42 0 genome.wustl.edu 37 17 61889335 61889335 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 17 61889335 61889335 G A SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known missense c.1442 p.G481E 1.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 484 1 0.206186 343 82 19.2941 GLP2R 0 genome.wustl.edu 37 17 9745873 9745873 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 17 9745873 9745873 C T SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known silent c.444 p.N148 0.998 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 116 0 0 107 29 21.3235 PSMA8 0 genome.wustl.edu 37 18 23759077 23759077 + Silent SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 18 23759077 23759077 A C SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known silent c.661 p.R221 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 88 0 0 31 27 46.5517 SETBP1 0 genome.wustl.edu 37 18 42530045 42530045 + Missense_Mutation SNP G G C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 18 42530045 42530045 G C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.740 p.S247T 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 153 1 0.649351 70 53 43.0894 EPB41L3 0 genome.wustl.edu 37 18 5419834 5419834 + Missense_Mutation SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 18 5419834 5419834 T C SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.1382 p.Q461R 1.000 pirsf_Band_41_protein 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 94 0 0 196 48 19.6721 SAMD1 0 genome.wustl.edu 37 19 14200075 14200075 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 14200075 14200075 C T SNP SAMD1 ENST00000533683 human ensembl 74_37 -1 novel missense c.736 p.E246K 0.997 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 9 0 0 7 3 30 ZNF208 0 genome.wustl.edu 37 19 22156444 22156444 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 22156444 22156444 C T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1392 p.M464I 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 145 0 0 124 32 20.5128 UPK1A 0 genome.wustl.edu 37 19 36166802 36166802 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 36166802 36166802 G A SNP UPK1A ENST00000379013 human ensembl 74_37 +1 known missense c.529 p.A177T 0.363 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 87 0 0 190 38 16.6667 ZNF260 0 genome.wustl.edu 37 19 37006121 37006121 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 37006121 37006121 C T SNP ZNF260 ENST00000523638 human ensembl 74_37 -1 known missense c.20 p.S7N 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 51 0 0 83 11 11.7021 ZNF461 0 genome.wustl.edu 37 19 37130918 37130918 + Missense_Mutation SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 37130918 37130918 T C SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.329 p.K110R 0.002 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 ZNF461 HGNC ENSG00000197808 110 0 0 236 36 13.2353 GGN 0 genome.wustl.edu 37 19 38877004 38877004 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 38877004 38877004 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.898 p.R300C 0.063 NULL NULL - no_errors GGN HGNC ENSG00000179168 28 0 0 73 13 15.1163 FCGBP 0 genome.wustl.edu 37 19 40392045 40392045 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 40392045 40392045 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.8341 p.V2781M 0.301 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 67 0 0 74 15 16.8539 NAPA-AS1 0 genome.wustl.edu 37 19 47996781 47996781 + RNA SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 47996781 47996781 G A SNP NAPA-AS1 ENST00000593284 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors NAPA-AS1 HGNC ENSG00000268061 161 0 0 188 65 25.6917 GYS1 0 genome.wustl.edu 37 19 49489176 49489176 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 49489176 49489176 G A SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known silent c.609 p.T203 1.000 pfam_Glycogen_synth,pfam_Starch_synth_cat_dom pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 130 0 0 140 31 18.1287 ZNF613 0 genome.wustl.edu 37 19 52439311 52439311 + RNA SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 52439311 52439311 C T SNP ZNF613 ENST00000593395 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF613 HGNC ENSG00000176024 16 0 0 23 3 11.5385 LILRA1 0 genome.wustl.edu 37 19 55107775 55107775 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 55107775 55107775 G A SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known silent c.1080 p.A360 0.000 smart_Ig_sub,smart_Ig_sub2,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 LILRA1 HGNC ENSG00000104974 176 0 0 326 57 14.8825 ZSCAN18 0 genome.wustl.edu 37 19 58601615 58601615 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 58601615 58601615 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.188 p.A63V 0.006 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 124 0 0 223 42 15.8491 MUC16 0 genome.wustl.edu 37 19 9084024 9084024 + Missense_Mutation SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 9084024 9084024 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7791 p.L2597F 0.054 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 141 0 0 91 24 20.8696 RNF149 0 genome.wustl.edu 37 2 101893708 101893708 + Missense_Mutation SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 101893708 101893708 T A SNP RNF149 ENST00000295317 human ensembl 74_37 -1 known missense c.1195 p.I399F 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 47 0 0 29 12 29.2683 CNTNAP5 0 genome.wustl.edu 37 2 124999958 124999958 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 124999958 124999958 A C SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.369 p.E123D 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom 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 CNTNAP5 HGNC ENSG00000155052 47 0 0 45 3 6.25 SNTG2 0 genome.wustl.edu 37 2 1271173 1271173 + Missense_Mutation SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 1271173 1271173 T A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1114 p.L372M 0.938 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 15 0 0 14 6 30 ERCC3 0 genome.wustl.edu 37 2 128051203 128051203 + Silent SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 128051203 128051203 C A SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known silent c.120 p.S40 0.039 NULL pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 139 0 0 170 11 6.07735 NCKAP5 0 genome.wustl.edu 37 2 133539979 133539979 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 133539979 133539979 A G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4405 p.S1469P 0.946 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 68 0 0 107 13 10.8333 CCNT2 0 genome.wustl.edu 37 2 135711860 135711860 + Missense_Mutation SNP C C G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 135711860 135711860 C G SNP CCNT2 ENST00000264157 human ensembl 74_37 +1 known missense c.1835 p.S612C 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 177 0 0 138 82 37.2727 THSD7B 0 genome.wustl.edu 37 2 138373777 138373777 + Silent SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 138373777 138373777 T G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.3465 p.T1155 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 222 0 0 199 20 9.13242 SCN3A 0 genome.wustl.edu 37 2 165984255 165984255 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 165984255 165984255 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known silent c.3279 p.F1093 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 132 0 0 138 11 7.38255 GAD1 0 genome.wustl.edu 37 2 171687621 171687621 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 171687621 171687621 T G SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.466 p.L156V 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 165 0 0 158 61 27.8539 GPR155 0 genome.wustl.edu 37 2 175335232 175335232 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 175335232 175335232 G A SNP GPR155 ENST00000295500 human ensembl 74_37 -1 known silent c.912 p.G304 0.000 pfam_Auxin_eff pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 114 0 0 94 49 34.2657 PRKRA 0 genome.wustl.edu 37 2 179301024 179301024 + Nonsense_Mutation SNP A A T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 179301024 179301024 A T SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known nonsense c.632 p.L211* 0.998 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors PRKRA HGNC ENSG00000180228 206 0 0 173 62 26.383 ORMDL1 0 genome.wustl.edu 37 2 190636564 190636564 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 190636564 190636564 G A SNP ORMDL1 ENST00000325795 human ensembl 74_37 -1 known missense c.391 p.L131F 1.000 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL1 HGNC ENSG00000128699 110 0 0 114 16 12.3077 NDUFS1 0 genome.wustl.edu 37 2 207014614 207014614 + Missense_Mutation SNP G G T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 207014614 207014614 G T SNP NDUFS1 ENST00000455934 human ensembl 74_37 -1 known missense c.231 p.F77L 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 176 0 0 192 15 7.24638 PTH2R 0 genome.wustl.edu 37 2 209324631 209324631 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 209324631 209324631 T G SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.926 p.L309R 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like 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 PTH2R HGNC ENSG00000144407 235 0 0 200 87 30.3136 CPS1 0 genome.wustl.edu 37 2 211512654 211512654 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 211512654 211512654 A G SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3227 p.K1076R 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 146 0 0 135 53 28.1915 SPEG 0 genome.wustl.edu 37 2 220315878 220315878 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 220315878 220315878 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.2134 p.V712M 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 328 0 0 288 125 30.2663 SPHKAP 0 genome.wustl.edu 37 2 228882722 228882722 + Missense_Mutation SNP C C G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 228882722 228882722 C G SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.2848 p.D950H 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 212 0 0 234 70 23.0263 ZFP36L2 0 genome.wustl.edu 37 2 43452657 43452657 + Missense_Mutation SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 43452657 43452657 T C SNP ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known missense c.286 p.T96A 0.015 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 10 0 0 14 4 22.2222 PAPOLG 0 genome.wustl.edu 37 2 61021178 61021178 + Missense_Mutation SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 61021178 61021178 T C SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.1841 p.V614A 1.000 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 157 1 0.632911 147 61 29.3269 PROKR1 0 genome.wustl.edu 37 2 68882442 68882442 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 68882442 68882442 G A SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known missense c.916 p.V306M 0.943 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 105 0 0 103 13 11.2069 REG3G 0 genome.wustl.edu 37 2 79255020 79255020 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 79255020 79255020 T G SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.421 p.L141V 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 182 0 0 188 78 29.3233 EIF2AK3 0 genome.wustl.edu 37 2 88889965 88889965 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 88889965 88889965 G A SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known silent c.1161 p.Y387 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 203 0 0 184 66 26.4 TEKT4 0 genome.wustl.edu 37 2 95540714 95540714 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 2 95540714 95540714 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.907 p.R303W 0.028 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 28 0 0 29 9 23.6842 NEURL2 0 genome.wustl.edu 37 20 44519034 44519034 + Missense_Mutation SNP A A T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 20 44519034 44519034 A T SNP NEURL2 ENST00000372518 human ensembl 74_37 -1 known missense c.597 p.D199E 0.961 pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 99 0 0 202 34 14.4068 HELZ2 0 genome.wustl.edu 37 20 62191324 62191324 + Silent SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 20 62191324 62191324 C A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.7782 p.V2594 0.999 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 115 0 0 254 35 12.1107 ABHD16B 0 genome.wustl.edu 37 20 62493204 62493204 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 20 62493204 62493204 A G SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known missense c.311 p.H104R 1.000 NULL pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 10 0 0 32 7 17.9487 GRIK1 0 genome.wustl.edu 37 21 31045320 31045320 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 21 31045320 31045320 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.709 p.A237T 0.996 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 307 0 0 202 43 17.551 KCNE2 0 genome.wustl.edu 37 21 35742989 35742989 + Missense_Mutation SNP C C G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 21 35742989 35742989 C G SNP KCNE2 ENST00000290310 human ensembl 74_37 +1 known missense c.212 p.T71S 0.998 pfam_K_chnl_volt-dep_bsu_KCNE pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE2 - no_errors KCNE2 HGNC ENSG00000159197 73 0 0 50 23 31.5068 COL6A1 0 genome.wustl.edu 37 21 47422312 47422312 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 21 47422312 47422312 C T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known silent c.2247 p.I749 0.971 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 13 0 0 34 5 12.8205 GGT3P 0 genome.wustl.edu 37 22 18769261 18769261 + Splice_Site SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 22 18769261 18769261 T C SNP GGT3P ENST00000412448 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors GGT3P HGNC ENSG00000197421 15 0 0 23 6 20.6897 RTN4R 0 genome.wustl.edu 37 22 20229416 20229416 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 22 20229416 20229416 G A SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known missense c.1240 p.R414C 0.922 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 57 0 0 54 9 14.2857 CSF2RB 0 genome.wustl.edu 37 22 37319374 37319374 + Silent SNP G G T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 22 37319374 37319374 G T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known silent c.165 p.R55 0.000 pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 63 0 0 64 25 28.0899 PICK1 0 genome.wustl.edu 37 22 38469813 38469813 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 22 38469813 38469813 G A SNP PICK1 ENST00000356976 human ensembl 74_37 +1 known missense c.817 p.E273K 1.000 pfam_AH_dom,pfam_BAR_dom,pfscan_AH_dom pfam_AH_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_AH_dom,pfscan_PDZ - no_errors PICK1 HGNC ENSG00000100151 155 0 0 128 44 25.5814 MKL1 0 genome.wustl.edu 37 22 40820311 40820311 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 22 40820311 40820311 C T SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known missense c.376 p.E126K 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 202 0 0 172 86 33.3333 ARHGAP31 0 genome.wustl.edu 37 3 119132796 119132796 + Missense_Mutation SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 119132796 119132796 C A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.2020 p.P674T 0.297 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 263 0 0 280 47 14.3731 POPDC2 0 genome.wustl.edu 37 3 119367093 119367093 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 119367093 119367093 G A SNP POPDC2 ENST00000341124 human ensembl 74_37 -1 known silent c.1023 p.T341 1.000 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 30 0 0 40 7 14.8936 TRH 0 genome.wustl.edu 37 3 129694763 129694763 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 129694763 129694763 C T SNP TRH ENST00000302649 human ensembl 74_37 +1 known missense c.104 p.T35M 0.000 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC ENSG00000170893 38 0 0 17 4 19.0476 CPNE4 0 genome.wustl.edu 37 3 131442333 131442333 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 131442333 131442333 T G SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.371 p.K124T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 392 0 0 223 127 36.2857 SLC6A6 0 genome.wustl.edu 37 3 14520637 14520637 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 14520637 14520637 C T SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known missense c.1495 p.R499W 0.999 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 173 0 0 128 26 16.8831 KCNMB2 0 genome.wustl.edu 37 3 178560470 178560470 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 178560470 178560470 T G SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.453 p.N151K 0.997 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 147 0 0 96 62 39.2405 KLHL24 0 genome.wustl.edu 37 3 183396874 183396874 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 183396874 183396874 G A SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.1603 p.E535K 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 157 0 0 110 19 14.7287 CHL1 0 genome.wustl.edu 37 3 403458 403458 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 403458 403458 C T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known silent c.1383 p.C461 0.013 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 233 1 0.42735 185 30 13.9535 TCAIM 0 genome.wustl.edu 37 3 44434444 44434444 + Missense_Mutation SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 44434444 44434444 C A SNP TCAIM ENST00000342649 human ensembl 74_37 +1 known missense c.670 p.H224N 0.586 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 117 0 0 99 31 23.8462 KLHDC8B 0 genome.wustl.edu 37 3 49212502 49212502 + Nonsense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 49212502 49212502 G A SNP KLHDC8B ENST00000332780 human ensembl 74_37 +1 known nonsense c.774 p.W258* 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 96 0 0 106 21 16.5354 PDE12 0 genome.wustl.edu 37 3 57542655 57542655 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 57542655 57542655 C T SNP PDE12 ENST00000311180 human ensembl 74_37 +1 known silent c.549 p.L183 0.759 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 122 0 0 114 27 19.1489 PDHB 0 genome.wustl.edu 37 3 58419403 58419403 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 58419403 58419403 C T SNP PDHB ENST00000302746 human ensembl 74_37 -1 known silent c.51 p.G17 1.000 NULL pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 29 0 0 21 7 25 HTR1F 0 genome.wustl.edu 37 3 88040723 88040723 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 3 88040723 88040723 A G SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known missense c.824 p.E275G 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_5HT1F_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 67 0 0 46 8 14.8148 TRMT10A 0 genome.wustl.edu 37 4 100470429 100470429 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 4 100470429 100470429 A C SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.836 p.V279G 0.977 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 233 0 0 142 51 26.4249 FAT4 0 genome.wustl.edu 37 4 126411219 126411219 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 4 126411219 126411219 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.13242 p.L4414 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 339 0 0 275 34 11.0032 KIAA0922 0 genome.wustl.edu 37 4 154525488 154525488 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 4 154525488 154525488 G A SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known silent c.3324 p.L1108 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 131 0 0 83 34 29.0598 TRIML1 0 genome.wustl.edu 37 4 189068336 189068336 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 4 189068336 189068336 A C SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.1217 p.K406T 0.187 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 272 1 0.3663 161 41 20.297 GRXCR1 0 genome.wustl.edu 37 4 42895288 42895288 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 4 42895288 42895288 T G SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.5 p.L2R 0.423 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 153 0 0 95 47 33.0986 CORIN 0 genome.wustl.edu 37 4 47682178 47682178 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 4 47682178 47682178 T G SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.1112 p.K371T 1.000 pirsf_Peptidase_S1A_corin,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 74 0 0 44 26 37.1429 EVC2 0 genome.wustl.edu 37 4 5617166 5617166 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 4 5617166 5617166 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2812 p.E938K 0.279 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 122 0 0 63 34 35.0515 KCNN2 0 genome.wustl.edu 37 5 113740479 113740479 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 113740479 113740479 C T SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known silent c.927 p.C309 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 308 0 0 233 38 14.0221 PCDHA3 0 genome.wustl.edu 37 5 140182956 140182956 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 140182956 140182956 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.2174 p.A725V 0.007 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 275 0 0 292 28 8.75 PCDHAC1 0 genome.wustl.edu 37 5 140307553 140307553 + Missense_Mutation SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 140307553 140307553 T A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.1076 p.I359N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 160 0 0 128 43 25.1462 PCDHB2 0 genome.wustl.edu 37 5 140476674 140476674 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 140476674 140476674 A C SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.2300 p.K767T 0.948 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 124 0 0 127 31 19.6203 PCDHB5 0 genome.wustl.edu 37 5 140516111 140516111 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 140516111 140516111 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1095 p.A365 0.003 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 200 0 0 179 17 8.67347 PCDHGA1 0 genome.wustl.edu 37 5 140712418 140712418 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 140712418 140712418 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.2167 p.R723C 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 155 0 0 175 28 13.7931 LARP1 0 genome.wustl.edu 37 5 154183812 154183812 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 154183812 154183812 C T SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.2260 p.H754Y 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 254 0 0 193 31 13.8393 GABRA1 0 genome.wustl.edu 37 5 161300185 161300185 + Silent SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 161300185 161300185 A C SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.318 p.G106 0.994 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 185 0 0 166 14 7.77778 GFPT2 0 genome.wustl.edu 37 5 179729482 179729482 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 179729482 179729482 G A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known silent c.1945 p.L649 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 111 0 0 119 21 15 SPEF2 0 genome.wustl.edu 37 5 35705878 35705878 + Missense_Mutation SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 35705878 35705878 T C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.2633 p.L878P 0.016 superfamily_P-loop_NTPase pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 33 0 0 31 12 27.907 LIFR 0 genome.wustl.edu 37 5 38527279 38527279 + Missense_Mutation SNP G G C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 38527279 38527279 G C SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.375 p.F125L 0.989 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 44 0 0 33 4 10.8108 HCN1 0 genome.wustl.edu 37 5 45262335 45262335 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 45262335 45262335 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.2361 p.S787 0.205 NULL 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 113 0 0 121 16 11.6788 ADAMTS16 0 genome.wustl.edu 37 5 5303848 5303848 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 5303848 5303848 A C SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.3155 p.K1052T 0.993 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,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 ADAMTS16 HGNC ENSG00000145536 73 0 0 48 11 18.6441 ADAMTS16 0 genome.wustl.edu 37 5 5319202 5319202 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 5319202 5319202 A G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.3626 p.K1209R 0.704 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,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 ADAMTS16 HGNC ENSG00000145536 37 0 0 19 7 26.9231 PIK3R1 0 genome.wustl.edu 37 5 67591121 67591121 + Nonsense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 67591121 67591121 C T SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known nonsense c.1714 p.Q572* 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 171 0 0 103 38 26.9504 GPR98 0 genome.wustl.edu 37 5 90119348 90119348 + Missense_Mutation SNP G G C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 5 90119348 90119348 G C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.16303 p.G5435R 1.000 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 104 1 0.952381 87 9 9.375 MIR548A2 0 genome.wustl.edu 37 6 135560344 135560344 + RNA SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 135560344 135560344 G A SNP MIR548A2 ENST00000384956 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors MIR548A2 HGNC ENSG00000207689 70 0 0 69 9 11.5385 SERAC1 0 genome.wustl.edu 37 6 158540190 158540190 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 158540190 158540190 T G SNP SERAC1 ENST00000367104 human ensembl 74_37 -1 known missense c.1179 p.K393N 1.000 pfam_PGAP1-like pfam_PGAP1-like,superfamily_ARM-type_fold - no_errors SERAC1 HGNC ENSG00000122335 19 0 0 25 4 13.7931 HIST1H2BG 0 genome.wustl.edu 37 6 26216771 26216771 + Missense_Mutation SNP C C G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 26216771 26216771 C G SNP HIST1H2BG ENST00000244601 human ensembl 74_37 -1 known missense c.101 p.R34P 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BG HGNC ENSG00000187990 340 0 0 277 63 18.5294 SCAND3 0 genome.wustl.edu 37 6 28554203 28554203 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 28554203 28554203 C T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.292 p.E98K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 218 0 0 223 31 12.2047 SCAND3 0 genome.wustl.edu 37 6 28554204 28554204 + Silent SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 28554204 28554204 C A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known silent c.291 p.L97 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 221 0 0 223 30 11.8577 EHMT2 0 genome.wustl.edu 37 6 31852223 31852223 + Missense_Mutation SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 31852223 31852223 T A SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.2888 p.K963M 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 208 0 0 226 40 15.0376 TFAP2B 0 genome.wustl.edu 37 6 50803904 50803904 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 50803904 50803904 G A SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known silent c.759 p.S253 0.981 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 107 0 0 134 17 11.2583 BAI3 0 genome.wustl.edu 37 6 70071176 70071176 + Silent SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 70071176 70071176 T C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.4011 p.H1337 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 122 0 0 121 38 23.8994 DSP 0 genome.wustl.edu 37 6 7583269 7583269 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 6 7583269 7583269 A G SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.5774 p.Q1925R 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 128 0 0 136 33 19.5266 PCOLCE-AS1 0 genome.wustl.edu 37 7 100200269 100200269 + RNA SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 100200269 100200269 G A SNP PCOLCE-AS1 ENST00000442166 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PCOLCE-AS1 HGNC ENSG00000224729 21 0 0 32 7 17.9487 MOGAT3 0 genome.wustl.edu 37 7 100839530 100839530 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 100839530 100839530 C T SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known missense c.809 p.R270H 0.017 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 15 0 0 22 6 21.4286 KMT2E 0 genome.wustl.edu 37 7 104753038 104753038 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 104753038 104753038 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.4835 p.S1612F 0.999 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 187 1 0.531915 199 26 11.5556 FOXP2 0 genome.wustl.edu 37 7 114174676 114174676 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 114174676 114174676 T G SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.173 p.L58R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 240 0 0 170 26 13.2653 AHCYL2 0 genome.wustl.edu 37 7 129066383 129066383 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 129066383 129066383 C T SNP AHCYL2 ENST00000325006 human ensembl 74_37 +1 known missense c.1808 p.P603L 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 102 0 0 72 42 36.8421 ACTR3C 0 genome.wustl.edu 37 7 149986639 149986639 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 149986639 149986639 A G SNP ACTR3C ENST00000252071 human ensembl 74_37 -1 known missense c.197 p.I66T 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3C HGNC ENSG00000106526 41 0 0 39 12 23.5294 KMT2C 0 genome.wustl.edu 37 7 151874791 151874791 + Missense_Mutation SNP C C G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 151874791 151874791 C G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.7747 p.E2583Q 0.980 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 143 0 0 88 63 41.7219 TMEM196 0 genome.wustl.edu 37 7 19765389 19765389 + Missense_Mutation SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 19765389 19765389 C A SNP TMEM196 ENST00000405764 human ensembl 74_37 -1 known missense c.207 p.M69I 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 109 0 0 125 11 8.08824 ADCY1 0 genome.wustl.edu 37 7 45753346 45753346 + Nonsense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 45753346 45753346 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known nonsense c.3112 p.R1038* 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 86 0 0 167 21 11.1702 IGFBP3 0 genome.wustl.edu 37 7 45954522 45954522 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 45954522 45954522 T G SNP IGFBP3 ENST00000381083 human ensembl 74_37 -1 known missense c.791 p.K264T 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1 - no_errors IGFBP3 HGNC ENSG00000146674 84 0 0 113 9 7.37705 WIPI2 0 genome.wustl.edu 37 7 5256764 5256764 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 5256764 5256764 G A SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known silent c.522 p.A174 0.065 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 109 0 0 178 16 8.24742 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658637 72658637 + RNA SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 72658637 72658637 C A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.138 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 64 0 0 63 186 74.6988 BCL7B 0 genome.wustl.edu 37 7 72954381 72954381 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 72954381 72954381 G A SNP BCL7B ENST00000454871 human ensembl 74_37 -1 known missense c.170 p.T57M 1.000 NULL pfam_BCL7 - no_errors BCL7B HGNC ENSG00000106635 33 0 0 38 6 13.6364 PTPN12 0 genome.wustl.edu 37 7 77212905 77212905 + Missense_Mutation SNP C C G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 77212905 77212905 C G SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known missense c.319 p.Q107E 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Ptpn_12,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 143 0 0 88 35 28.4553 ZNF804B 0 genome.wustl.edu 37 7 88965108 88965108 + Nonsense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 88965108 88965108 C T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known nonsense c.2812 p.Q938* 0.960 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 267 0 0 277 45 13.9752 TRRAP 0 genome.wustl.edu 37 7 98513368 98513368 + Missense_Mutation SNP A A T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 7 98513368 98513368 A T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2222 p.N741I 1.000 superfamily_ARM-type_fold 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 161 0 0 204 13 5.99078 RIMS2 0 genome.wustl.edu 37 8 105160990 105160990 + Missense_Mutation SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 105160990 105160990 A G SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.3302 p.K1101R 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 134 1 0.740741 154 24 13.4831 RIMS2 0 genome.wustl.edu 37 8 105263384 105263384 + Missense_Mutation SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 105263384 105263384 T A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3824 p.V1275D 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 19 0 0 31 8 20.5128 CSMD3 0 genome.wustl.edu 37 8 113933947 113933947 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 113933947 113933947 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1542 p.E514D 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 147 0 0 162 79 32.7801 TRPS1 0 genome.wustl.edu 37 8 116599678 116599678 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 116599678 116599678 T G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2250 p.K750N 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 369 0 0 375 184 32.9159 OC90 0 genome.wustl.edu 37 8 133048652 133048652 + Silent SNP A A G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 133048652 133048652 A G SNP OC90 ENST00000443356 human ensembl 74_37 -1 known silent c.693 p.T231 0.000 NULL pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 90 0 0 73 43 37.069 GSR 0 genome.wustl.edu 37 8 30546716 30546716 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 30546716 30546716 G A SNP GSR ENST00000221130 human ensembl 74_37 -1 known missense c.1003 p.R335W 0.994 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 77 0 0 35 27 43.5484 UNC5D 0 genome.wustl.edu 37 8 35631916 35631916 + Missense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 35631916 35631916 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2578 p.R860W 0.994 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 121 0 0 87 37 29.8387 PXDNL 0 genome.wustl.edu 37 8 52321637 52321637 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 52321637 52321637 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.2547 p.H849 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 32 0 0 49 23 31.9444 MOS 0 genome.wustl.edu 37 8 57026167 57026167 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 57026167 57026167 C T SNP MOS ENST00000311923 human ensembl 74_37 -1 known silent c.375 p.T125 0.306 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOS HGNC ENSG00000172680 242 0 0 272 109 28.6089 CYP7B1 0 genome.wustl.edu 37 8 65536991 65536991 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 65536991 65536991 T G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.228 p.Q76H 0.831 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 217 0 0 269 36 11.8033 CNGB3 0 genome.wustl.edu 37 8 87751922 87751922 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 87751922 87751922 T G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.172 p.T58P 0.001 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 152 0 0 187 37 16.5179 CNBD1 0 genome.wustl.edu 37 8 87899806 87899806 + Missense_Mutation SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 87899806 87899806 T C SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.125 p.L42S 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 8 0 0 13 6 31.5789 MMP16 0 genome.wustl.edu 37 8 89068435 89068435 + Missense_Mutation SNP T T C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 8 89068435 89068435 T C SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1294 p.S432G 0.983 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 140 0 0 224 53 19.1336 TLR4 0 genome.wustl.edu 37 9 120475898 120475898 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 120475898 120475898 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1492 p.L498V 0.773 pirsf_Toll-like_receptor,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 119 0 0 132 43 24.5714 SPTAN1 0 genome.wustl.edu 37 9 131329152 131329152 + Nonsense_Mutation SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 131329152 131329152 C T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known nonsense c.133 p.R45* 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 154 0 0 152 63 29.3023 FAM78A 0 genome.wustl.edu 37 9 134136516 134136516 + Missense_Mutation SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 134136516 134136516 T A SNP FAM78A ENST00000372271 human ensembl 74_37 -1 known missense c.545 p.N182I 1.000 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 185 0 0 165 35 17.5 KCNV2 0 genome.wustl.edu 37 9 2718193 2718193 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 2718193 2718193 G A SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.454 p.D152N 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 33 0 0 14 12 46.1538 PTPRD 0 genome.wustl.edu 37 9 8376048 8376048 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 8376048 8376048 T G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.4549 p.T1517P 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 95 0 0 30 28 48.2759 SPATA31D5P 0 genome.wustl.edu 37 9 84531877 84531877 + RNA SNP C C A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 84531877 84531877 C A SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors SPATA31D5P HGNC ENSG00000240632 48 0 0 44 21 32.3077 SPATA31D5P 0 genome.wustl.edu 37 9 84531878 84531878 + RNA SNP T T A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 84531878 84531878 T A SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors SPATA31D5P HGNC ENSG00000240632 48 0 0 45 21 31.8182 KIF27 0 genome.wustl.edu 37 9 86506355 86506355 + Missense_Mutation SNP A A C TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 86506355 86506355 A C SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.1664 p.L555R 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 94 0 0 72 31 30.0971 NXNL2 0 genome.wustl.edu 37 9 91150520 91150520 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 9 91150520 91150520 C T SNP NXNL2 ENST00000375854 human ensembl 74_37 +1 known silent c.171 p.A57 0.961 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors NXNL2 HGNC ENSG00000130045 49 0 0 29 17 36.9565 SLC6A14 0 genome.wustl.edu 37 X 115586617 115586617 + Silent SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 X 115586617 115586617 G A SNP SLC6A14 ENST00000371900 human ensembl 74_37 +1 known silent c.1599 p.T533 0.019 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 72 0 0 96 30 23.8095 ATP1B4 0 genome.wustl.edu 37 X 119505008 119505008 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 X 119505008 119505008 G A SNP ATP1B4 ENST00000218008 human ensembl 74_37 +1 known missense c.505 p.V169I 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B4 HGNC ENSG00000101892 86 0 0 85 17 16.6667 CNKSR2 0 genome.wustl.edu 37 X 21581553 21581553 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 X 21581553 21581553 G A SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.1591 p.E531K 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 87 0 0 53 32 37.6471 DMD 0 genome.wustl.edu 37 X 32486747 32486747 + Silent SNP C C T TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 X 32486747 32486747 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.3030 p.A1010 0.097 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 64 0 0 50 10 16.6667 KLHL4 0 genome.wustl.edu 37 X 86887303 86887303 + Missense_Mutation SNP T T G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 X 86887303 86887303 T G SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1418 p.V473G 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 43 0 0 38 31 44.9275 GPR143 0 genome.wustl.edu 37 X 9693809 9693809 + Missense_Mutation SNP G G A TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 X 9693809 9693809 G A SNP GPR143 ENST00000380929 human ensembl 74_37 -1 known missense c.1252 p.L418F 0.000 pfam_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 33 0 0 35 5 12.5 SPTA1 0 genome.wustl.edu 37 1 158590118 158590118 + Frame_Shift_Del DEL C C - TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 158590118 158590118 C - DEL SPTA1 ENST00000368147 human ensembl 74_37 -1 known frame_shift_del c.6259 p.D2087fs 0.998 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 93 0 0 125 13 9.42029 RPS10P7 0 genome.wustl.edu 37 1 201489719 201489719 + RNA DEL A A - TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 1 201489719 201489719 A - DEL RPS10P7 ENST00000441932 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors RPS10P7 HGNC ENSG00000223396 12 0 0 12 2 14.2857 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 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 65 0 0 89 12 11.8812 TNFAIP2 0 genome.wustl.edu 37 14 103592889 103592891 + In_Frame_Del DEL AGA AGA - TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 14 103592889 103592891 AGA - DEL TNFAIP2 ENST00000333007 human ensembl 74_37 +1 known in_frame_del c.95_97 p.K36in_frame_del 0.988:0.992:0.995 NULL pfam_Sec6 - no_errors TNFAIP2 HGNC ENSG00000185215 10 0 0 8 2 20 LILRA1 0 genome.wustl.edu 37 19 55112391 55112392 + RNA INS - - G TCGA-BR-4369-01A-01D-1158-08 TCGA-BR-4369-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 45e9bc01-ad92-4a4c-bb2d-c54999962c8d 124ae002-8b64-4eac-baa6-ece7e7482b43 19 55112391 55112392 - G INS LILRA1 ENST00000473156 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LILRA1 HGNC ENSG00000104974 41 0 0 63 11 14.8649