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 HSD3B1 0 genome.wustl.edu 37 1 120056814 120056814 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 120056814 120056814 C T SNP HSD3B1 ENST00000235547 human ensembl 74_37 +1 known missense c.674 p.P225L 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 42 0 0 284 22 7.18954 UBE2J2 0 genome.wustl.edu 37 1 1203290 1203290 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 1203290 1203290 G A SNP UBE2J2 ENST00000400930 human ensembl 74_37 -1 known missense c.83 p.P28L 0.999 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 201 0 0 650 61 8.57947 LCE1A 0 genome.wustl.edu 37 1 152800031 152800031 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 152800031 152800031 A C SNP LCE1A ENST00000335123 human ensembl 74_37 +1 known missense c.83 p.K28T 0.171 NULL NULL - no_errors LCE1A HGNC ENSG00000186844 51 0 0 214 12 5.30973 PMVK 0 genome.wustl.edu 37 1 154904868 154904868 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 154904868 154904868 A C SNP PMVK ENST00000368467 human ensembl 74_37 -1 known missense c.119 p.V40G 0.705 pfam_Pmev_kin_anim,superfamily_P-loop_NTPase,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim pfam_Pmev_kin_anim,superfamily_P-loop_NTPase,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim - no_errors PMVK HGNC ENSG00000163344 21 0 0 95 5 5 BCAN 0 genome.wustl.edu 37 1 156622677 156622677 + Silent SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 156622677 156622677 C A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known silent c.1935 p.P645 1.000 NULL 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,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 37 0 0 250 15 5.66038 OR10K2 0 genome.wustl.edu 37 1 158390187 158390187 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158390187 158390187 T G SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.470 p.Q157P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 55 0 0 303 26 7.90274 OR10K2 0 genome.wustl.edu 37 1 158390391 158390391 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158390391 158390391 T G SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.266 p.K89T 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC ENSG00000180708 85 0 0 419 46 9.89247 OR10K1 0 genome.wustl.edu 37 1 158435416 158435416 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158435416 158435416 G T SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.65 p.R22M 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 36 0 0 229 18 7.28745 OR10Z1 0 genome.wustl.edu 37 1 158576978 158576978 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158576978 158576978 T C SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.750 p.I250 0.006 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 OR10Z1 HGNC ENSG00000198967 87 0 0 531 42 7.32984 SPTA1 0 genome.wustl.edu 37 1 158583547 158583547 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158583547 158583547 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6953 p.K2318R 0.999 pfscan_EF_hand_dom 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 25 0 0 132 10 7.04225 SPTA1 0 genome.wustl.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158606546 158606546 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5195 p.K1732T 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 54 0 0 285 32 10.0946 SPTA1 0 genome.wustl.edu 37 1 158615013 158615013 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158615013 158615013 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4159 p.R1387C 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 55 0 0 352 39 9.97442 SPTA1 0 genome.wustl.edu 37 1 158651331 158651331 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158651331 158651331 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.517 p.W173R 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 134 0 0 702 60 7.87402 PYHIN1 0 genome.wustl.edu 37 1 158908331 158908331 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 158908331 158908331 A G SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.410 p.Q137R 0.009 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 22 0 0 148 8 5.12821 OR10J1 0 genome.wustl.edu 37 1 159410501 159410501 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 159410501 159410501 A C SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.953 p.K318T 0.034 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 31 0 0 209 12 5.42986 VANGL2 0 genome.wustl.edu 37 1 160394940 160394940 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 160394940 160394940 T C SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known silent c.1338 p.P446 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 23 0 0 114 6 5 HMCN1 0 genome.wustl.edu 37 1 185992242 185992242 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 185992242 185992242 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.5706 p.N1902K 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 30 0 0 185 13 6.56566 UBR4 0 genome.wustl.edu 37 1 19451145 19451145 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 19451145 19451145 G C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.9478 p.L3160V 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 35 0 0 236 18 7.08661 CFH 0 genome.wustl.edu 37 1 196684839 196684839 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 196684839 196684839 A C SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1636 p.S546R 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 54 0 0 340 30 8.10811 KLHL12 0 genome.wustl.edu 37 1 202861698 202861698 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 202861698 202861698 C T SNP KLHL12 ENST00000435533 human ensembl 74_37 -1 known missense c.1784 p.R595H 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 KLHL12 HGNC ENSG00000117153 36 0 0 173 18 9.42408 CD34 0 genome.wustl.edu 37 1 208061155 208061155 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 208061155 208061155 G A SNP CD34 ENST00000310833 human ensembl 74_37 -1 known silent c.1086 p.N362 1.000 pfam_CD34/Podocalyxin,prints_CD34 pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 40 0 0 114 44 27.8481 AIDA 0 genome.wustl.edu 37 1 222849460 222849460 + Silent SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 222849460 222849460 G C SNP AIDA ENST00000541237 human ensembl 74_37 -1 known silent c.489 p.P163 1.000 pfam_AIDA_N pfam_AIDA_N,superfamily_AIDA_N - no_errors AIDA HGNC ENSG00000186063 44 0 0 225 19 7.78689 SDE2 0 genome.wustl.edu 37 1 226180108 226180108 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 226180108 226180108 C T SNP SDE2 ENST00000272091 human ensembl 74_37 -1 known missense c.511 p.V171I 0.999 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 35 0 0 170 37 17.8744 ZBTB40 0 genome.wustl.edu 37 1 22837716 22837716 + Silent SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 22837716 22837716 G C SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known silent c.1878 p.L626 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 72 0 0 305 26 7.85498 OBSCN 0 genome.wustl.edu 37 1 228434396 228434396 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 228434396 228434396 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3925 p.A1309T 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 71 0 0 327 30 8.40336 EGLN1 0 genome.wustl.edu 37 1 231556836 231556836 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 231556836 231556836 C T SNP EGLN1 ENST00000366641 human ensembl 74_37 -1 known missense c.799 p.E267K 0.992 smart_Pro_4_hyd_alph pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND - no_errors EGLN1 HGNC ENSG00000135766 44 0 0 186 53 22.1757 DISC1 0 genome.wustl.edu 37 1 231954086 231954086 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 231954086 231954086 T C SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known missense c.1804 p.W602R 0.172 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 36 0 0 228 15 6.17284 SIPA1L2 0 genome.wustl.edu 37 1 232561464 232561464 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 232561464 232561464 A G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4501 p.F1501L 0.874 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 16 0 0 71 6 7.79221 FMN2 0 genome.wustl.edu 37 1 240555824 240555824 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 240555824 240555824 A C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4872 p.Q1624H 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 23 0 0 209 13 5.85586 OR2L2 0 genome.wustl.edu 37 1 248201578 248201578 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 248201578 248201578 T G SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.9 p.N3K 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 40 0 0 322 18 5.29412 HCRTR1 0 genome.wustl.edu 37 1 32085185 32085185 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 32085185 32085185 C A SNP HCRTR1 ENST00000373706 human ensembl 74_37 +1 known missense c.252 p.F84L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 22 0 0 89 11 11 SZT2 0 genome.wustl.edu 37 1 43891237 43891237 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 43891237 43891237 A C SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.2738 p.Q913P 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 66 0 0 264 50 15.9236 NFIA 0 genome.wustl.edu 37 1 61824865 61824865 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 61824865 61824865 G C SNP NFIA ENST00000371189 human ensembl 74_37 +1 known missense c.1000 p.G334R 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 56 0 0 319 17 5.05952 NEGR1 0 genome.wustl.edu 37 1 72163810 72163810 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 72163810 72163810 T G SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.548 p.E183A 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 18 0 0 85 15 15 LPHN2 0 genome.wustl.edu 37 1 82436124 82436124 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 1 82436124 82436124 A G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.2848 p.K950E 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 26 0 0 233 15 6.04839 INA 0 genome.wustl.edu 37 10 105037931 105037931 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 105037931 105037931 G A SNP INA ENST00000369849 human ensembl 74_37 +1 known silent c.963 p.A321 0.193 pfam_IF,superfamily_Prefoldin pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 19 0 0 58 7 10.7692 SORCS1 0 genome.wustl.edu 37 10 108923912 108923912 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 108923912 108923912 T C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.373 p.S125G 0.005 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 40 0 0 120 10 7.69231 CCDC172 0 genome.wustl.edu 37 10 118137945 118137945 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 118137945 118137945 G C SNP CCDC172 ENST00000333254 human ensembl 74_37 +1 known missense c.664 p.E222Q 1.000 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 11 0 0 159 22 12.1547 PRLHR 0 genome.wustl.edu 37 10 120353892 120353892 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 120353892 120353892 C T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.865 p.V289I 0.980 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_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 42 0 0 135 8 5.59441 C10orf137 0 genome.wustl.edu 37 10 127438041 127438041 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 127438041 127438041 G T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.3184 p.A1062S 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 25 0 0 151 22 12.7168 EBF3 0 genome.wustl.edu 37 10 131666103 131666103 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 131666103 131666103 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known silent c.855 p.G285 0.301 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 44 0 0 136 24 15 PTCHD3 0 genome.wustl.edu 37 10 27703150 27703150 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 27703150 27703150 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.30 p.P10 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 52 0 0 202 42 17.2131 ANKRD30A 0 genome.wustl.edu 37 10 37421204 37421204 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 37421204 37421204 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.379 p.R127G 0.004 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 25 0 0 234 16 6.4 DDX50 0 genome.wustl.edu 37 10 70666568 70666568 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 70666568 70666568 A G SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known silent c.189 p.K63 0.952 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 33 0 0 251 60 19.2926 ENSG00000271880 0 genome.wustl.edu 37 10 88768495 88768495 + RNA SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 88768495 88768495 G T SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 111 0 0 706 50 6.61376 CC2D2B 0 genome.wustl.edu 37 10 97791581 97791581 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 10 97791581 97791581 C T SNP CC2D2B ENST00000410012 human ensembl 74_37 +1 known missense c.1022 p.T341M 0.657 NULL NULL - no_errors CC2D2B HGNC ENSG00000188649 57 0 0 513 44 7.89946 MRVI1 0 genome.wustl.edu 37 11 10648081 10648081 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 10648081 10648081 A G SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.773 p.V258A 1.000 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 9 0 0 41 8 16.3265 DSCAML1 0 genome.wustl.edu 37 11 117332215 117332215 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 117332215 117332215 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.3543 p.G1181 0.118 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 78 0 0 163 12 6.85714 C11orf63 0 genome.wustl.edu 37 11 122756770 122756770 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 122756770 122756770 C T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known silent c.213 p.P71 0.001 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 75 0 0 222 36 13.9535 MUC5B 0 genome.wustl.edu 37 11 1270309 1270309 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 1270309 1270309 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.12208 p.S4070P 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 58 0 0 103 22 17.6 IGF2 0 genome.wustl.edu 37 11 2154256 2154256 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 2154256 2154256 G A SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known silent c.672 p.H224 0.998 NULL pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 73 0 0 267 19 6.64336 LRRC4C 0 genome.wustl.edu 37 11 40137506 40137506 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 40137506 40137506 T C SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.337 p.R113G 0.910 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 21 0 0 135 18 11.7647 CKAP5 0 genome.wustl.edu 37 11 46774965 46774965 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 46774965 46774965 A C SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.4952 p.L1651R 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 49 0 0 187 41 17.9825 LRP4 0 genome.wustl.edu 37 11 46890212 46890212 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 46890212 46890212 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.4890 p.A1630 1.000 smart_EG-like_dom pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 47 0 0 132 14 9.58904 OR52R1 0 genome.wustl.edu 37 11 4825639 4825639 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 4825639 4825639 A G SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known missense c.209 p.V70A 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 43 0 0 158 10 5.95238 OR5D16 0 genome.wustl.edu 37 11 55606243 55606243 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 55606243 55606243 A G SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.16 p.R6G 0.142 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 35 0 0 204 19 8.52018 OR52N4 0 genome.wustl.edu 37 11 5776163 5776163 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 5776163 5776163 T C SNP OR52N4 ENST00000317254 human ensembl 74_37 +1 known silent c.193 p.L65 0.998 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 OR52N4 HGNC ENSG00000181074 29 0 0 136 22 13.9241 TCN1 0 genome.wustl.edu 37 11 59626717 59626717 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 59626717 59626717 C T SNP TCN1 ENST00000257264 human ensembl 74_37 -1 known missense c.580 p.A194T 1.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 37 0 0 291 23 7.32484 MS4A2 0 genome.wustl.edu 37 11 59857259 59857259 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 59857259 59857259 C A SNP MS4A2 ENST00000278888 human ensembl 74_37 +1 known missense c.151 p.L51M 0.144 NULL pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 29 0 0 150 9 5.66038 B3GAT3 0 genome.wustl.edu 37 11 62383980 62383980 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 62383980 62383980 G A SNP B3GAT3 ENST00000265471 human ensembl 74_37 -1 known missense c.907 p.R303W 0.999 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT3 HGNC ENSG00000149541 29 0 0 155 12 7.18563 CLEC12A 0 genome.wustl.edu 37 12 10133243 10133243 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 10133243 10133243 A C SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known missense c.472 p.S158R 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 34 0 0 236 29 10.9434 UNG 0 genome.wustl.edu 37 12 109541289 109541289 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 109541289 109541289 C G SNP UNG ENST00000242576 human ensembl 74_37 +1 known missense c.674 p.S225C 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC ENSG00000076248 12 0 0 98 8 7.54717 CCDC60 0 genome.wustl.edu 37 12 119943022 119943022 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 119943022 119943022 G C SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.797 p.S266T 0.092 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 123 0 0 427 29 6.35965 CLIP1 0 genome.wustl.edu 37 12 122845597 122845597 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 122845597 122845597 G C SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.914 p.A305G 0.997 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 26 0 0 127 10 7.29927 MMP17 0 genome.wustl.edu 37 12 132325159 132325159 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 132325159 132325159 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.464 p.T155M 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 73 0 0 252 18 6.66667 PARP11 0 genome.wustl.edu 37 12 3923335 3923335 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 3923335 3923335 T C SNP PARP11 ENST00000228820 human ensembl 74_37 -1 known missense c.568 p.K190E 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 21 0 0 128 13 9.21986 LRRK2 0 genome.wustl.edu 37 12 40657648 40657648 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 40657648 40657648 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.1601 p.K534T 0.011 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 43 0 0 187 12 6.03015 SLC38A4 0 genome.wustl.edu 37 12 47186787 47186787 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 47186787 47186787 G T SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.68 p.A23D 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 67 0 0 420 29 6.4588 KRT84 0 genome.wustl.edu 37 12 52774882 52774882 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 52774882 52774882 A C SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.1185 p.I395M 0.308 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 101 0 0 505 45 8.18182 TENC1 0 genome.wustl.edu 37 12 53457541 53457541 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 53457541 53457541 G A SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.4135 p.V1379M 1.000 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 121 0 0 453 31 6.40496 STAT6 0 genome.wustl.edu 37 12 57501478 57501478 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 57501478 57501478 G A SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known silent c.165 p.A55 0.001 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 38 0 0 152 22 12.6437 LRP1 0 genome.wustl.edu 37 12 57554830 57554830 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 57554830 57554830 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.2134 p.R712C 0.998 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 100 0 0 440 27 5.78158 ANO2 0 genome.wustl.edu 37 12 5908717 5908717 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 5908717 5908717 C T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known silent c.1002 p.A334 0.999 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 17 0 0 79 7 8.13953 KLRG1 0 genome.wustl.edu 37 12 9162086 9162086 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 9162086 9162086 A G SNP KLRG1 ENST00000266551 human ensembl 74_37 +1 known missense c.523 p.S175G 0.974 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 KLRG1 HGNC ENSG00000139187 30 0 0 175 11 5.91398 A2M 0 genome.wustl.edu 37 12 9231846 9231846 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 9231846 9231846 T G SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.3113 p.N1038T 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 22 0 0 124 8 6.06061 APAF1 0 genome.wustl.edu 37 12 99077029 99077029 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 12 99077029 99077029 G A SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.2155 p.G719R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 47 0 0 228 23 9.16335 SLC10A2 0 genome.wustl.edu 37 13 103703770 103703770 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 103703770 103703770 C T SNP SLC10A2 ENST00000245312 human ensembl 74_37 -1 known missense c.598 p.A200T 0.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A2 HGNC ENSG00000125255 28 0 0 84 16 16 SACS 0 genome.wustl.edu 37 13 23907855 23907855 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 23907855 23907855 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.10160 p.L3387R 0.999 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 29 0 0 164 17 9.39227 ENSG00000243008 0 genome.wustl.edu 37 13 25144712 25144712 + RNA SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 25144712 25144712 A C SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 9 0 0 54 9 14.2857 RNF17 0 genome.wustl.edu 37 13 25444738 25444738 + Silent SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 25444738 25444738 T G SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known silent c.4308 p.T1436 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 35 0 0 108 21 16.2791 DCLK1 0 genome.wustl.edu 37 13 36686166 36686166 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 36686166 36686166 A G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.563 p.V188A 1.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom 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 68 0 0 269 31 10.3333 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36748937 36748937 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 36748937 36748937 A T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.942 p.D314E 0.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 30 0 0 133 7 5 CKAP2 0 genome.wustl.edu 37 13 53048035 53048035 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 53048035 53048035 G C SNP CKAP2 ENST00000378037 human ensembl 74_37 +1 known missense c.1621 p.D541H 0.000 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 23 0 0 153 9 5.55556 PCDH9 0 genome.wustl.edu 37 13 67205373 67205373 + Silent SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 67205373 67205373 A C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.3309 p.T1103 0.609 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 48 0 0 175 27 13.3663 CLN5 0 genome.wustl.edu 37 13 77574734 77574734 + Nonsense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 77574734 77574734 T G SNP CLN5 ENST00000377453 human ensembl 74_37 +1 known nonsense c.854 p.L285* 1.000 NULL NULL - no_errors CLN5 HGNC ENSG00000102805 30 0 0 172 18 9.47368 NOVA1 0 genome.wustl.edu 37 14 26917993 26917993 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 14 26917993 26917993 T C SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known silent c.696 p.K232 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 47 0 0 297 23 7.1875 MDGA2 0 genome.wustl.edu 37 14 47426697 47426697 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 14 47426697 47426697 A G SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.1969 p.F657L 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 33 0 0 180 29 13.8756 PYGL 0 genome.wustl.edu 37 14 51383825 51383825 + Splice_Site SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 14 51383825 51383825 T G SNP PYGL ENST00000216392 human ensembl 74_37 -1 known splice_site c.856-2 e8-2 1.000 - - - no_errors PYGL HGNC ENSG00000100504 24 0 0 189 28 12.9032 KCNH5 0 genome.wustl.edu 37 14 63483661 63483661 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 14 63483661 63483661 A C SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.85 p.L29V 1.000 superfamily_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 28 0 0 160 23 12.5683 EML5 0 genome.wustl.edu 37 14 89168805 89168805 + Nonsense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 14 89168805 89168805 G C SNP EML5 ENST00000554922 human ensembl 74_37 -1 known nonsense c.2223 p.Y741* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 11 0 0 70 5 6.66667 DNM1P46 0 genome.wustl.edu 37 15 100340166 100340166 + RNA SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 100340166 100340166 G T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors DNM1P46 HGNC ENSG00000182397 12 0 0 45 11 19.6429 DNM1P46 0 genome.wustl.edu 37 15 100340264 100340264 + RNA SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 100340264 100340264 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.954 - - - no_errors DNM1P46 HGNC ENSG00000182397 21 0 0 34 16 32 DNM1P46 0 genome.wustl.edu 37 15 100340266 100340266 + RNA SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 100340266 100340266 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.916 - - - no_errors DNM1P46 HGNC ENSG00000182397 21 0 0 35 16 31.3725 SNORD116-11 0 genome.wustl.edu 37 15 25321115 25321115 + RNA SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 25321115 25321115 T G SNP SNORD116-11 ENST00000383882 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors SNORD116-11 HGNC ENSG00000206609 36 0 0 248 14 5.34351 TTBK2 0 genome.wustl.edu 37 15 43045040 43045040 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 43045040 43045040 T C SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.2404 p.I802V 0.939 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 35 0 0 257 23 8.21429 SLC12A1 0 genome.wustl.edu 37 15 48522588 48522588 + Splice_Site SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 48522588 48522588 A C SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known splice_site c.865-2 e6-2 1.000 - - - no_errors SLC12A1 HGNC ENSG00000074803 15 0 0 42 5 10.6383 ONECUT1 0 genome.wustl.edu 37 15 53049845 53049845 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 53049845 53049845 G A SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known silent c.1305 p.N435 0.980 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 63 0 0 307 24 7.25076 HERC1 0 genome.wustl.edu 37 15 63950881 63950881 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 63950881 63950881 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.9461 p.R3154K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 16 0 0 114 10 8.06452 THSD4 0 genome.wustl.edu 37 15 71952875 71952875 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 71952875 71952875 G A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.1159 p.G387S 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 98 0 0 477 35 6.83594 SLC5A11 0 genome.wustl.edu 37 16 24902195 24902195 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 16 24902195 24902195 G A SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known missense c.670 p.A224T 0.321 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 107 0 0 343 47 12.0513 HS3ST4 0 genome.wustl.edu 37 16 26147507 26147507 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 16 26147507 26147507 T G SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known missense c.1309 p.L437V 0.998 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 15 0 0 56 4 6.66667 CLDN9 0 genome.wustl.edu 37 16 3063534 3063534 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 16 3063534 3063534 G A SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known silent c.171 p.Q57 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 57 0 0 233 16 6.4257 CLDN6 0 genome.wustl.edu 37 16 3065603 3065603 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 16 3065603 3065603 C T SNP CLDN6 ENST00000328796 human ensembl 74_37 -1 known silent c.420 p.A140 0.926 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 23 0 0 107 10 8.54701 TSNAXIP1 0 genome.wustl.edu 37 16 67861893 67861893 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 16 67861893 67861893 C A SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.1974 p.S658R 0.876 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 77 0 0 254 35 12.1107 TAT 0 genome.wustl.edu 37 16 71606201 71606201 + Silent SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 16 71606201 71606201 C A SNP TAT ENST00000355962 human ensembl 74_37 -1 known silent c.594 p.L198 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 25 0 0 176 12 6.38298 HS3ST3B1 0 genome.wustl.edu 37 17 14205355 14205355 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 14205355 14205355 G T SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known missense c.520 p.D174Y 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 11 0 0 22 3 12 LOC440416 0 genome.wustl.edu 37 17 20805638 20805638 + RNA SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 20805638 20805638 A T SNP LOC440416 ENST00000577537 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 70 0 0 199 18 8.29493 TNFAIP1 0 genome.wustl.edu 37 17 26667474 26667474 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 26667474 26667474 G A SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known silent c.345 p.G115 0.978 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 58 0 0 217 13 5.65217 OR1E1 0 genome.wustl.edu 37 17 3301639 3301639 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 3301639 3301639 C T SNP OR1E1 ENST00000322608 human ensembl 74_37 -1 known silent c.66 p.E22 0.287 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC ENSG00000180016 34 0 0 173 16 8.46561 MED24 0 genome.wustl.edu 37 17 38191438 38191438 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 38191438 38191438 C T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.491 p.R164H 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 101 0 0 329 25 7.06215 KRTAP9-3 0 genome.wustl.edu 37 17 39388901 39388901 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 39388901 39388901 A C SNP KRTAP9-3 ENST00000411528 human ensembl 74_37 +1 known missense c.148 p.T50P 0.057 NULL NULL - no_errors KRTAP9-3 HGNC ENSG00000204873 57 0 0 252 14 5.26316 CDC27 0 genome.wustl.edu 37 17 45234287 45234287 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 45234287 45234287 T G SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.834 p.L278F 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 11 0 0 110 6 5.17241 CDC27 0 genome.wustl.edu 37 17 45234367 45234367 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 45234367 45234367 A T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.754 p.S252T 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 26 0 0 146 10 6.41026 KIF2B 0 genome.wustl.edu 37 17 51901901 51901901 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 51901901 51901901 C A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1507 p.L503I 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 21 0 0 126 10 7.35294 BCAS3 0 genome.wustl.edu 37 17 58885385 58885385 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 58885385 58885385 T G SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.424 p.F142V 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 96 0 0 574 72 11.1455 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 39 0 0 110 40 26.6667 MYH10 0 genome.wustl.edu 37 17 8526315 8526315 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 8526315 8526315 A C SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.250 p.F84V 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 60 0 0 399 79 16.5272 SETBP1 0 genome.wustl.edu 37 18 42531308 42531308 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 18 42531308 42531308 A C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2003 p.K668T 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 35 0 0 151 17 10.119 SALL3 0 genome.wustl.edu 37 18 76752229 76752229 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 18 76752229 76752229 C A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.238 p.L80M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 14 0 0 25 6 19.3548 GRIN3B 0 genome.wustl.edu 37 19 1005304 1005304 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 1005304 1005304 G A SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1804 p.G602S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 40 0 0 179 26 12.6829 JUNB 0 genome.wustl.edu 37 19 12903585 12903585 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 12903585 12903585 A T SNP JUNB ENST00000302754 human ensembl 74_37 +1 known missense c.1000 p.N334Y 1.000 prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 23 0 0 38 6 13.6364 FKBP8 0 genome.wustl.edu 37 19 18650400 18650400 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 18650400 18650400 C T SNP FKBP8 ENST00000453489 human ensembl 74_37 -1 known silent c.510 p.P170 0.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 118 0 0 356 43 10.7769 ZNF257 0 genome.wustl.edu 37 19 22271961 22271961 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 22271961 22271961 A T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.1409 p.Q470L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 17 0 0 126 8 5.97015 LOC440518 0 genome.wustl.edu 37 19 22785433 22785433 + RNA SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 22785433 22785433 A C SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 38 0 0 144 24 14.2857 ZNF91 0 genome.wustl.edu 37 19 23544823 23544823 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 23544823 23544823 T C SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.958 p.K320E 1.000 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 ZNF91 HGNC ENSG00000167232 45 0 0 247 22 8.17844 APLP1 0 genome.wustl.edu 37 19 36365445 36365445 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 36365445 36365445 T C SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1096 p.S366P 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 69 0 0 230 35 13.2075 SPRED3 0 genome.wustl.edu 37 19 38881012 38881012 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 38881012 38881012 G A SNP SPRED3 ENST00000338502 human ensembl 74_37 +1 known missense c.70 p.G24R 1.000 smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 32 0 0 56 7 11.1111 FCGBP 0 genome.wustl.edu 37 19 40389741 40389741 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 40389741 40389741 A G SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.8441 p.V2814A 0.000 smart_VWC_out,smart_VWF_C 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 8 0 0 16 13 44.8276 MADCAM1 0 genome.wustl.edu 37 19 501767 501767 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 501767 501767 C T SNP MADCAM1 ENST00000215637 human ensembl 74_37 +1 known missense c.766 p.P256S 0.189 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 12 0 0 39 13 25 TBC1D17 0 genome.wustl.edu 37 19 50390983 50390983 + Nonsense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 50390983 50390983 G A SNP TBC1D17 ENST00000221543 human ensembl 74_37 +1 known nonsense c.1551 p.W517* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 24 0 0 59 6 9.23077 LENG9 0 genome.wustl.edu 37 19 54973371 54973371 + Missense_Mutation SNP T T A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 54973371 54973371 T A SNP LENG9 ENST00000333834 human ensembl 74_37 -1 known missense c.1405 p.S469C 0.000 superfamily_RNA_ligase/cNuc_Pdiesterase superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 65 0 0 157 85 35.124 ZNF471 0 genome.wustl.edu 37 19 57036546 57036546 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 57036546 57036546 T C SNP ZNF471 ENST00000591537 human ensembl 74_37 +1 putative missense c.689 p.L230P 0.992 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 36 0 0 311 22 6.60661 USP29 0 genome.wustl.edu 37 19 57641380 57641380 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 57641380 57641380 T C SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.1337 p.L446P 0.012 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 51 0 0 332 59 15.0895 ZNF135 0 genome.wustl.edu 37 19 58578734 58578734 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 58578734 58578734 T C SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known silent c.954 p.G318 0.010 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 ZNF135 HGNC ENSG00000176293 57 0 0 188 11 5.52764 MUC16 0 genome.wustl.edu 37 19 9067492 9067492 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 19 9067492 9067492 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.19954 p.T6652P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 55 0 0 269 19 6.59722 CNTNAP5 0 genome.wustl.edu 37 2 125262020 125262020 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 125262020 125262020 T C SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1211 p.L404P 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,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 41 0 0 150 22 12.7907 AMER3 0 genome.wustl.edu 37 2 131520539 131520539 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 131520539 131520539 C T SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known silent c.894 p.P298 0.624 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 32 0 0 121 7 5.46875 NCKAP5 0 genome.wustl.edu 37 2 133971302 133971302 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 133971302 133971302 T G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.193 p.S65R 0.992 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 11 0 0 58 7 10.7692 LRP1B 0 genome.wustl.edu 37 2 141665505 141665505 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 141665505 141665505 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3461 p.E1154G 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 74 0 0 325 22 6.34006 LRP1B 0 genome.wustl.edu 37 2 141747223 141747223 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 141747223 141747223 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2648 p.N883T 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 32 0 0 200 16 7.40741 GALNT13 0 genome.wustl.edu 37 2 155102400 155102400 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 155102400 155102400 T C SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known silent c.762 p.T254 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 22 0 0 195 15 7.14286 FAM49A 0 genome.wustl.edu 37 2 16736390 16736390 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 16736390 16736390 T C SNP FAM49A ENST00000355549 human ensembl 74_37 -1 known silent c.855 p.K285 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 16 0 0 71 10 12.3457 XIRP2 0 genome.wustl.edu 37 2 167760333 167760333 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 167760333 167760333 T G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.341 p.L114R 0.956 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 38 0 0 206 14 6.36364 MYO3B 0 genome.wustl.edu 37 2 171258164 171258164 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 171258164 171258164 C T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.2119 p.R707C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 22 0 0 77 14 15.3846 PRKRA 0 genome.wustl.edu 37 2 179300871 179300871 + Splice_Site SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 179300871 179300871 C T SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known splice_site c.784+1 e7+1 1.000 - - - no_errors PRKRA HGNC ENSG00000180228 25 0 0 195 17 8.01887 TTN 0 genome.wustl.edu 37 2 179470170 179470170 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 179470170 179470170 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46148 p.P15383L 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 16 0 0 142 34 19.3182 TTN 0 genome.wustl.edu 37 2 179614992 179614992 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 179614992 179614992 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.12135 p.K4045N 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 33 0 0 276 15 5.15464 PLCL1 0 genome.wustl.edu 37 2 198950584 198950584 + Silent SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 198950584 198950584 T G SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.2343 p.T781 0.803 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 53 0 0 336 31 8.44687 PLCL1 0 genome.wustl.edu 37 2 198950764 198950764 + Silent SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 198950764 198950764 T G SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.2523 p.L841 0.057 superfamily_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 18 0 0 171 26 13.198 SPATS2L 0 genome.wustl.edu 37 2 201305422 201305422 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 201305422 201305422 C G SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.793 p.L265V 1.000 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 22 0 0 150 23 13.2948 RAPH1 0 genome.wustl.edu 37 2 204354397 204354397 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 204354397 204354397 G A SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known silent c.642 p.S214 0.944 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 60 0 0 304 54 15.0838 ZDBF2 0 genome.wustl.edu 37 2 207170797 207170797 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 207170797 207170797 A C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.1545 p.E515D 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 31 0 0 154 15 8.87574 MAP2 0 genome.wustl.edu 37 2 210557419 210557419 + Silent SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 210557419 210557419 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.525 p.S175 0.968 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 29 0 0 162 17 9.49721 APOB 0 genome.wustl.edu 37 2 21234209 21234209 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 21234209 21234209 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.5531 p.S1844F 0.995 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 44 0 0 310 56 15.3005 ABCA12 0 genome.wustl.edu 37 2 215812241 215812241 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 215812241 215812241 A C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.7144 p.F2382V 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 29 0 0 176 18 9.27835 CCDC108 0 genome.wustl.edu 37 2 219892286 219892286 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 219892286 219892286 C T SNP CCDC108 ENST00000409865 human ensembl 74_37 -1 putative missense c.2264 p.G755D 0.024 NULL superfamily_PapD-like - no_errors CCDC108 HGNC ENSG00000181378 15 0 0 115 9 7.25806 CHRND 0 genome.wustl.edu 37 2 233394675 233394675 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 233394675 233394675 C T SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.646 p.R216W 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 51 0 0 160 28 14.8936 EHBP1 0 genome.wustl.edu 37 2 63058193 63058193 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 63058193 63058193 G A SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.534 p.M178I 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 23 0 0 160 16 9.09091 CNRIP1 0 genome.wustl.edu 37 2 68544371 68544371 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 68544371 68544371 A C SNP CNRIP1 ENST00000263655 human ensembl 74_37 -1 known missense c.248 p.V83G 1.000 NULL NULL - no_errors CNRIP1 HGNC ENSG00000119865 42 0 0 199 19 8.7156 DYSF 0 genome.wustl.edu 37 2 71741005 71741005 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 71741005 71741005 C A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.710 p.A237E 0.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 46 0 0 129 15 10.4167 CTNNA2 0 genome.wustl.edu 37 2 80540716 80540716 + Silent SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 80540716 80540716 A T SNP CTNNA2 ENST00000343114 human ensembl 74_37 +1 putative silent c.30 p.S10 0.001 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 8 0 0 43 6 12.2449 C20orf26 0 genome.wustl.edu 37 20 20051611 20051611 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 20051611 20051611 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.257 p.S86L 0.004 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 36 0 0 188 16 7.84314 SSTR4 0 genome.wustl.edu 37 20 23016284 23016284 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 23016284 23016284 C T SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.164 p.A55V 0.217 prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 63 0 0 250 15 5.66038 CD93 0 genome.wustl.edu 37 20 23065702 23065702 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 23065702 23065702 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known silent c.1128 p.G376 0.000 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 26 0 0 120 7 5.51181 ACSS1 0 genome.wustl.edu 37 20 24993551 24993551 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 24993551 24993551 G A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.1604 p.A535V 0.997 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 83 0 0 303 17 5.3125 AAR2 0 genome.wustl.edu 37 20 34832708 34832708 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 34832708 34832708 C T SNP AAR2 ENST00000320849 human ensembl 74_37 +1 known missense c.847 p.R283W 1.000 pfam_AAR2 pfam_AAR2 - no_errors AAR2 HGNC ENSG00000131043 34 0 0 247 26 9.52381 ZFP64 0 genome.wustl.edu 37 20 50701472 50701472 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 50701472 50701472 C A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1562 p.R521L 0.999 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 41 0 0 204 21 9.33333 RAE1 0 genome.wustl.edu 37 20 55931555 55931555 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 55931555 55931555 G C SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known missense c.249 p.Q83H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 14 0 0 55 6 9.83607 TAF4 0 genome.wustl.edu 37 20 60584158 60584158 + Nonsense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 60584158 60584158 G A SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known nonsense c.1834 p.Q612* 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 42 0 0 221 69 23.7931 PLCB1 0 genome.wustl.edu 37 20 8626804 8626804 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 20 8626804 8626804 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.440 p.S147F 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 21 0 0 144 23 13.7725 TMPRSS15 0 genome.wustl.edu 37 21 19704431 19704431 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 21 19704431 19704431 A G SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1624 p.F542L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 36 0 0 156 9 5.45455 ADAMTS5 0 genome.wustl.edu 37 21 28306875 28306875 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 21 28306875 28306875 C A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1599 p.K533N 1.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 16 0 0 133 11 7.63889 ITGB2 0 genome.wustl.edu 37 21 46330674 46330674 + Silent SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 21 46330674 46330674 C A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.24 p.L8 0.007 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 30 0 0 36 5 12.1951 SLC5A4 0 genome.wustl.edu 37 22 32625330 32625330 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 22 32625330 32625330 T C SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known silent c.1131 p.G377 0.972 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 29 0 0 120 15 11.1111 CBX6 0 genome.wustl.edu 37 22 39263079 39263079 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 22 39263079 39263079 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.374 p.R125H 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 11 0 0 28 3 9.67742 CELSR1 0 genome.wustl.edu 37 22 46805053 46805053 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 22 46805053 46805053 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.5066 p.P1689L 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 32 0 0 114 12 9.52381 IGSF11 0 genome.wustl.edu 37 3 118645003 118645003 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 118645003 118645003 A G SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known silent c.525 p.T175 0.995 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 25 0 0 210 17 7.48899 POLQ 0 genome.wustl.edu 37 3 121151768 121151768 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 121151768 121151768 A G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.7656 p.V2552 0.951 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 8 0 0 86 5 5.49451 PLXNA1 0 genome.wustl.edu 37 3 126751404 126751404 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 126751404 126751404 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.5406 p.Y1802 0.879 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 52 0 0 158 10 5.95238 PAQR9 0 genome.wustl.edu 37 3 142681901 142681901 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 142681901 142681901 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.278 p.P93L 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 25 0 0 64 11 14.6667 FGF12 0 genome.wustl.edu 37 3 191861866 191861866 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 191861866 191861866 G A SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known missense c.664 p.R222C 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 71 0 0 470 48 9.26641 KCNH8 0 genome.wustl.edu 37 3 19554711 19554711 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 19554711 19554711 A C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2329 p.T777P 0.920 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 37 0 0 206 11 5.06912 KIAA0226 0 genome.wustl.edu 37 3 197402382 197402382 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 197402382 197402382 C A SNP KIAA0226 ENST00000296343 human ensembl 74_37 -1 known missense c.2651 p.C884F 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 79 0 0 317 19 5.65476 DCLK3 0 genome.wustl.edu 37 3 36778861 36778861 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 36778861 36778861 G A SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known silent c.1290 p.I430 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 46 0 0 184 10 5.15464 MYRIP 0 genome.wustl.edu 37 3 40085715 40085715 + Nonsense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 40085715 40085715 C G SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known nonsense c.285 p.Y95* 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 46 0 0 146 13 8.1761 ZNF852 0 genome.wustl.edu 37 3 44541168 44541168 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 44541168 44541168 G A SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known silent c.1101 p.I367 0.052 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 ZNF852 HGNC ENSG00000178917 20 0 0 115 10 8 PDHB 0 genome.wustl.edu 37 3 58414150 58414150 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 58414150 58414150 G A SNP PDHB ENST00000474765 human ensembl 74_37 -1 putative silent c.930 p.I310 0.000 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 26 0 0 97 11 10.1852 GRM7 0 genome.wustl.edu 37 3 7620685 7620685 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 7620685 7620685 A G SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.2092 p.S698G 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 11 0 0 112 11 8.94309 ROBO1 0 genome.wustl.edu 37 3 78700930 78700930 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 78700930 78700930 G A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.2764 p.R922C 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 25 0 0 158 17 9.71429 HTR1F 0 genome.wustl.edu 37 3 88039930 88039930 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 88039930 88039930 T G SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known missense c.31 p.L11V 1.000 prints_5HT1F_rcpt 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 61 0 0 287 68 19.1549 HTR1F 0 genome.wustl.edu 37 3 88040909 88040909 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 88040909 88040909 A C SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known missense c.1010 p.Y337S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,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 14 0 0 149 14 8.58896 CRELD1 0 genome.wustl.edu 37 3 9985701 9985701 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 9985701 9985701 C G SNP CRELD1 ENST00000326434 human ensembl 74_37 +1 known missense c.1164 p.F388L 0.016 NULL pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 51 0 0 215 16 6.92641 NDNF 0 genome.wustl.edu 37 4 121958019 121958019 + Silent SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 121958019 121958019 A T SNP NDNF ENST00000379692 human ensembl 74_37 -1 known silent c.1107 p.S369 0.937 pfam_DUF2369 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 44 0 0 284 20 6.57895 FAT4 0 genome.wustl.edu 37 4 126372719 126372719 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 126372719 126372719 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10548 p.E3516D 0.996 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin 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 57 0 0 372 30 7.46269 FAT4 0 genome.wustl.edu 37 4 126411303 126411303 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 126411303 126411303 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13326 p.E4442D 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom 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 52 0 0 196 42 17.6471 OTUD4 0 genome.wustl.edu 37 4 146067479 146067479 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 146067479 146067479 T G SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.1362 p.E454D 0.999 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 27 0 0 199 16 7.44186 NPY2R 0 genome.wustl.edu 37 4 156135632 156135632 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 156135632 156135632 A C SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.541 p.S181R 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 33 0 0 182 19 9.45274 CD38 0 genome.wustl.edu 37 4 15839770 15839770 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 15839770 15839770 A T SNP CD38 ENST00000226279 human ensembl 74_37 +1 known missense c.641 p.K214I 0.002 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 13 0 0 68 6 8.10811 TMEM192 0 genome.wustl.edu 37 4 166000876 166000876 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 166000876 166000876 C T SNP TMEM192 ENST00000306480 human ensembl 74_37 -1 known silent c.750 p.A250 0.008 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 17 0 0 87 9 9.375 TLL1 0 genome.wustl.edu 37 4 166935691 166935691 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 166935691 166935691 A G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1021 p.R341G 1.000 pfam_Peptidase_M12A,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 75 0 0 376 33 8.06846 KIAA1211 0 genome.wustl.edu 37 4 57182545 57182545 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 57182545 57182545 A T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.2877 p.Q959H 0.512 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 19 0 0 65 8 10.9589 TMPRSS11F 0 genome.wustl.edu 37 4 68956353 68956353 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 68956353 68956353 T G SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known missense c.170 p.K57T 0.404 pirsf_Pept_S1A_HAT/DESC1,pfam_SEA_dom,pfscan_SEA_dom pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 14 0 0 143 12 7.74194 ACSL6 0 genome.wustl.edu 37 5 131324527 131324527 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 131324527 131324527 G A SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.623 p.P208L 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 92 0 0 289 35 10.8025 DNAH5 0 genome.wustl.edu 37 5 13736033 13736033 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 13736033 13736033 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11464 p.R3822W 0.948 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 35 0 0 212 14 6.19469 PCDHGA2 0 genome.wustl.edu 37 5 140720706 140720706 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 140720706 140720706 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.2168 p.R723H 0.027 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 94 0 0 360 29 7.45501 FAT2 0 genome.wustl.edu 37 5 150908750 150908750 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 150908750 150908750 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10015 p.V3339I 0.018 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 24 0 0 141 9 6 DOCK2 0 genome.wustl.edu 37 5 169483732 169483732 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 169483732 169483732 C G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4340 p.P1447R 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 22 0 0 92 9 8.91089 STC2 0 genome.wustl.edu 37 5 172750412 172750412 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 172750412 172750412 C T SNP STC2 ENST00000265087 human ensembl 74_37 -1 known missense c.316 p.A106T 0.994 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 9 0 0 43 5 10.4167 FAF2 0 genome.wustl.edu 37 5 175916030 175916030 + Splice_Site SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 175916030 175916030 T G SNP FAF2 ENST00000261942 human ensembl 74_37 +1 known splice_site c.344+2 e4+2 1.000 - - - no_errors FAF2 HGNC ENSG00000113194 10 0 0 85 17 16.6667 RXFP3 0 genome.wustl.edu 37 5 33937122 33937122 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 33937122 33937122 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.277 p.A93T 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 31 0 0 123 27 18 CMYA5 0 genome.wustl.edu 37 5 79034410 79034410 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 79034410 79034410 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.9822 p.Q3274H 0.938 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 43 0 0 165 19 10.3261 SEMA5A 0 genome.wustl.edu 37 5 9108375 9108375 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 9108375 9108375 A G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.1950 p.C650 0.999 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 27 0 0 88 23 20.7207 LAMA2 0 genome.wustl.edu 37 6 129511389 129511389 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 129511389 129511389 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.1507 p.G503S 0.999 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 16 0 0 138 8 5.47945 GFOD1 0 genome.wustl.edu 37 6 13365511 13365511 + Nonsense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 13365511 13365511 G A SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known nonsense c.637 p.R213* 1.000 NULL pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 56 0 0 172 12 6.52174 SYNE1 0 genome.wustl.edu 37 6 152671448 152671448 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 152671448 152671448 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11756 p.A3919V 0.104 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 37 0 0 172 40 18.8679 SYNE1 0 genome.wustl.edu 37 6 152718078 152718078 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 152718078 152718078 A T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.7388 p.L2463H 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 35 0 0 236 15 5.9761 PLG 0 genome.wustl.edu 37 6 161158022 161158022 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 161158022 161158022 A G SNP PLG ENST00000308192 human ensembl 74_37 +1 known silent c.1785 p.Q595 0.837 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 25 0 0 152 10 6.17284 QKI 0 genome.wustl.edu 37 6 163984719 163984719 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 163984719 163984719 T G SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.902 p.L301R 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 38 0 0 219 13 5.60345 ZNF311 0 genome.wustl.edu 37 6 28963505 28963505 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 28963505 28963505 C T SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known missense c.1274 p.S425N 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF311 HGNC ENSG00000197935 28 0 0 160 33 17.0984 HLA-A 0 genome.wustl.edu 37 6 29910607 29910607 + Silent SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 29910607 29910607 G C SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known silent c.147 p.V49 0.021 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 24 0 0 84 5 5.61798 PTCHD4 0 genome.wustl.edu 37 6 47847330 47847330 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 47847330 47847330 C T SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.1250 p.R417H 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 25 0 0 126 21 14.2857 DST 0 genome.wustl.edu 37 6 56474064 56474064 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 6 56474064 56474064 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.5263 p.L1755F 1.000 superfamily_ABC1_TM_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 94 0 0 464 64 12.1212 RELN 0 genome.wustl.edu 37 7 103207203 103207203 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 103207203 103207203 A C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.4592 p.L1531R 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 28 0 0 188 20 9.61538 RELN 0 genome.wustl.edu 37 7 103275919 103275919 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 103275919 103275919 A G SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.2418 p.T806 0.982 pfam_BNR_rpt,superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 29 0 0 218 31 12.4498 GPR85 0 genome.wustl.edu 37 7 112724143 112724143 + Nonsense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 112724143 112724143 G A SNP GPR85 ENST00000297146 human ensembl 74_37 -1 known nonsense c.634 p.R212* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR85 HGNC ENSG00000164604 34 0 0 175 23 11.6162 PTPRZ1 0 genome.wustl.edu 37 7 121652018 121652018 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 121652018 121652018 A C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.2918 p.K973T 0.894 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 52 0 0 296 18 5.73248 AASS 0 genome.wustl.edu 37 7 121717962 121717962 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 121717962 121717962 G A SNP AASS ENST00000393376 human ensembl 74_37 -1 known silent c.2592 p.I864 0.907 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 149 0 0 723 80 9.96264 TAS2R16 0 genome.wustl.edu 37 7 122635196 122635196 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 122635196 122635196 T C SNP TAS2R16 ENST00000249284 human ensembl 74_37 -1 known missense c.493 p.T165A 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 28 0 0 254 15 5.57621 CHRM2 0 genome.wustl.edu 37 7 136700570 136700570 + Missense_Mutation SNP T T A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 136700570 136700570 T A SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.958 p.S320T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 65 0 0 216 30 12.1951 CNTNAP2 0 genome.wustl.edu 37 7 146741127 146741127 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 146741127 146741127 A C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.531 p.E177D 0.884 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,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,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 59 0 0 287 40 12.2324 CNTNAP2 0 genome.wustl.edu 37 7 146997356 146997356 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 146997356 146997356 A C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1472 p.K491T 0.918 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 32 0 0 191 32 14.3498 CHPF2 0 genome.wustl.edu 37 7 150932222 150932222 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 150932222 150932222 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.352 p.V118M 1.000 NULL pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 57 0 0 225 17 7.02479 UBE3C 0 genome.wustl.edu 37 7 157060400 157060400 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 157060400 157060400 G A SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.3203 p.S1068N 0.999 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 55 0 0 232 18 7.2 DNAH11 0 genome.wustl.edu 37 7 21760426 21760426 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 21760426 21760426 T G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.7239 p.F2413L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 16 0 0 41 9 18 CARD11 0 genome.wustl.edu 37 7 2946340 2946340 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 2946340 2946340 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.3397 p.R1133C 0.978 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 52 0 0 203 16 7.30594 SFRP4 0 genome.wustl.edu 37 7 37955820 37955820 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 37955820 37955820 T C SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known missense c.320 p.D107G 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 37 0 0 101 7 6.48148 GLI3 0 genome.wustl.edu 37 7 42116369 42116369 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 42116369 42116369 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.455 p.P152L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 26 0 0 150 16 9.63855 ADCY1 0 genome.wustl.edu 37 7 45753498 45753498 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 45753498 45753498 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.3264 p.P1088 0.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 50 0 0 194 12 5.82524 IKZF1 0 genome.wustl.edu 37 7 50459470 50459470 + Silent SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 50459470 50459470 G T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.759 p.L253 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 19 0 0 127 17 11.8056 WBSCR17 0 genome.wustl.edu 37 7 70800597 70800597 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 70800597 70800597 G A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.300 p.P100 0.658 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 27 0 0 137 33 19.4118 WBSCR17 0 genome.wustl.edu 37 7 71175770 71175770 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 71175770 71175770 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1525 p.F509V 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 55 0 0 187 15 7.42574 HGF 0 genome.wustl.edu 37 7 81355304 81355304 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 81355304 81355304 G T SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.1070 p.P357Q 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 37 0 0 263 22 7.7193 PCLO 0 genome.wustl.edu 37 7 82585193 82585193 + Nonsense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 82585193 82585193 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.5076 p.Y1692* 0.995 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 22 0 0 131 24 15.4839 GRM3 0 genome.wustl.edu 37 7 86468784 86468784 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 86468784 86468784 T G SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.1954 p.F652V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 85 0 0 378 28 6.89655 ABCB1 0 genome.wustl.edu 37 7 87196226 87196226 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 87196226 87196226 A C SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.405 p.F135L 0.997 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 24 0 0 165 10 5.71429 TFPI2 0 genome.wustl.edu 37 7 93519622 93519622 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 93519622 93519622 G A SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.98 p.A33V 0.001 pirsf_Prot_inhib_I2_TFPI,superfamily_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 41 0 0 131 13 9.02778 ZKSCAN1 0 genome.wustl.edu 37 7 99631029 99631029 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 7 99631029 99631029 T G SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known missense c.901 p.F301V 0.096 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 26 0 0 118 8 6.34921 PABPC1 0 genome.wustl.edu 37 8 101719121 101719121 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 101719121 101719121 G A SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.1441 p.R481C 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 29 0 0 178 20 10.101 UBR5 0 genome.wustl.edu 37 8 103327016 103327016 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 103327016 103327016 C T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.1850 p.C617Y 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 24 0 0 120 10 7.69231 ANGPT1 0 genome.wustl.edu 37 8 108334268 108334268 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 108334268 108334268 A G SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.664 p.L222 0.933 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 24 0 0 204 16 7.27273 SCRIB 0 genome.wustl.edu 37 8 144891180 144891180 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 144891180 144891180 C A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.1714 p.A572S 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 31 0 0 170 9 5.02793 BMP1 0 genome.wustl.edu 37 8 22064885 22064885 + Nonsense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 22064885 22064885 C T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known nonsense c.2431 p.R811* 0.879 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 79 0 0 294 87 22.8346 CSMD1 0 genome.wustl.edu 37 8 2806830 2806830 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 2806830 2806830 C G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.10396 p.E3466Q 0.906 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 22 0 0 86 5 5.49451 ANK1 0 genome.wustl.edu 37 8 41530411 41530411 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 41530411 41530411 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.4557 p.D1519 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 9 0 0 74 5 6.32911 KAT6A 0 genome.wustl.edu 37 8 41836209 41836209 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 41836209 41836209 T C SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.994 p.T332A 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 102 0 0 818 57 6.51429 SNTG1 0 genome.wustl.edu 37 8 51465669 51465669 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 51465669 51465669 T G SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.740 p.L247R 1.000 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 29 0 0 174 19 9.84456 PREX2 0 genome.wustl.edu 37 8 69005938 69005938 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 69005938 69005938 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.2349 p.A783 0.989 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 30 0 0 333 18 5.12821 CPQ 0 genome.wustl.edu 37 8 97797433 97797433 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 97797433 97797433 T G SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.308 p.V103G 0.979 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 27 0 0 165 14 7.82123 PTBP3 0 genome.wustl.edu 37 9 114997138 114997138 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 114997138 114997138 G A SNP PTBP3 ENST00000458258 human ensembl 74_37 -1 known missense c.944 p.A315V 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 21 0 0 85 9 9.57447 TLR4 0 genome.wustl.edu 37 9 120475898 120475898 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 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 24 0 0 155 30 16.2162 BRINP1 0 genome.wustl.edu 37 9 122075621 122075621 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 122075621 122075621 A C SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.13 p.F5V 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 26 0 0 105 12 10.2564 PRRC2B 0 genome.wustl.edu 37 9 134305594 134305594 + Silent SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 134305594 134305594 C G SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known silent c.63 p.L21 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 9 0 0 34 12 26.087 C9orf9 0 genome.wustl.edu 37 9 135762799 135762799 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 135762799 135762799 G A SNP C9orf9 ENST00000356311 human ensembl 74_37 +1 known missense c.188 p.R63Q 1.000 NULL NULL - no_errors C9orf9 HGNC ENSG00000165698 103 0 0 302 121 28.6052 CARD9 0 genome.wustl.edu 37 9 139265018 139265018 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 139265018 139265018 C T SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known missense c.763 p.A255T 0.523 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 14 0 0 34 17 33.3333 IFNB1 0 genome.wustl.edu 37 9 21077392 21077392 + Nonsense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 21077392 21077392 G C SNP IFNB1 ENST00000380232 human ensembl 74_37 -1 known nonsense c.477 p.Y159* 0.955 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNB1 HGNC ENSG00000171855 58 0 0 384 29 7.02179 TAF1L 0 genome.wustl.edu 37 9 32633779 32633779 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 32633779 32633779 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.1799 p.R600Q 0.996 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 106 0 0 352 164 31.7829 RORB 0 genome.wustl.edu 37 9 77300519 77300519 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 77300519 77300519 C T SNP RORB ENST00000396204 human ensembl 74_37 +1 known silent c.1398 p.A466 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 50 0 0 222 20 8.26446 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117582 117582 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc GL000205.1 117582 117582 C T SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known silent c.213 p.A71 NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 18 0 0 48 17 26.1538 GPRASP2 0 genome.wustl.edu 37 X 101970603 101970603 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 101970603 101970603 G C SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.806 p.R269T 0.563 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 53 0 0 216 57 20.8791 SERPINA7 0 genome.wustl.edu 37 X 105281009 105281009 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 105281009 105281009 A C SNP SERPINA7 ENST00000327674 human ensembl 74_37 -1 known missense c.41 p.L14R 0.584 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA7 HGNC ENSG00000123561 25 0 0 200 18 8.25688 RGAG1 0 genome.wustl.edu 37 X 109696914 109696914 + Silent SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 109696914 109696914 T G SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.3069 p.A1023 0.116 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 61 0 0 331 31 8.56354 ACTRT1 0 genome.wustl.edu 37 X 127185305 127185305 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 127185305 127185305 A C SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.881 p.L294R 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 53 0 0 239 18 7.00389 PQBP1 0 genome.wustl.edu 37 X 48759272 48759272 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 48759272 48759272 A G SNP PQBP1 ENST00000218224 human ensembl 74_37 +1 known missense c.245 p.N82S 0.966 superfamily_WW_dom pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PQBP1 HGNC ENSG00000102103 26 0 0 109 7 6.03448 GSPT2 0 genome.wustl.edu 37 X 51487269 51487269 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 51487269 51487269 A G SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known missense c.547 p.K183E 0.999 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 9 0 0 48 5 9.43396 MAGEE2 0 genome.wustl.edu 37 X 75004270 75004270 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 75004270 75004270 A G SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.617 p.V206A 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 19 0 0 116 22 15.942 KLHL4 0 genome.wustl.edu 37 X 86877393 86877393 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 86877393 86877393 T C SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known silent c.1107 p.S369 0.979 pfam_BACK,smart_BACK 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 24 0 0 141 54 27.6923 FADS3 0 genome.wustl.edu 37 11 61643385 61643386 + In_Frame_Ins INS - - CACAGC TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 11 61643385 61643386 - CACAGC INS FADS3 ENST00000278829 human ensembl 74_37 -1 known in_frame_ins c.1224_1223 p.408in_frame_insWL 0.933:1.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS3 HGNC ENSG00000221968 71 0 0 157 10 5.98802 DCT 0 genome.wustl.edu 37 13 95121039 95121040 + Frame_Shift_Ins INS - - A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 13 95121039 95121040 - A INS DCT ENST00000446125 human ensembl 74_37 -1 known frame_shift_ins c.556_555 p.V185fs 1.000:0.999 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 75 0 0 277 42 13.1661 NARG2 0 genome.wustl.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 15 60745782 60745782 A - DEL NARG2 ENST00000561114 human ensembl 74_37 -1 putative frame_shift_del c.1145 p.F382fs 0.000 NULL NULL - no_errors NARG2 HGNC ENSG00000128915 20 0 0 127 9 6.61765 CHD9 0 genome.wustl.edu 37 16 53243482 53243483 + Frame_Shift_Ins INS - - A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 16 53243482 53243483 - A INS CHD9 ENST00000398510 human ensembl 74_37 +1 known frame_shift_ins c.1541_1542 p.V517fs 1.000:1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 27 0 0 105 23 17.9688 UBBP4 0 genome.wustl.edu 37 17 21731261 21731261 + Frame_Shift_Del DEL T T - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 17 21731261 21731261 T - DEL UBBP4 ENST00000584755 human ensembl 74_37 +1 novel frame_shift_del c.563 p.I188fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 37 0 0 190 25 11.6279 DPP10 0 genome.wustl.edu 37 2 116485480 116485480 + Frame_Shift_Del DEL T T - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 116485480 116485480 T - DEL DPP10 ENST00000393147 human ensembl 74_37 +1 known frame_shift_del c.677 p.F227fs 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 12 0 0 77 11 12.5 TNS1 0 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 2 218712887 218712889 GCT - DEL TNS1 ENST00000171887 human ensembl 74_37 -1 known in_frame_del c.1978_1976 p.Q659in_frame_del 1.000:1.000:0.994 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 23 0 0 72 7 8.86076 IMPG2 0 genome.wustl.edu 37 3 100963460 100963462 + In_Frame_Del DEL AAG AAG - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 100963460 100963462 AAG - DEL IMPG2 ENST00000193391 human ensembl 74_37 -1 known in_frame_del c.1715_1713 p.L572in_frame_del 0.013:0.011:0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 60 0 0 394 30 7.07547 XPC 0 genome.wustl.edu 37 3 14219966 14219968 + In_Frame_Del DEL CCT CCT - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 3 14219966 14219968 CCT - DEL XPC ENST00000285021 human ensembl 74_37 -1 known in_frame_del c.103_101 p.E34in_frame_del 0.927:0.902:0.864 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 33 0 0 102 8 7.27273 DCHS2 0 genome.wustl.edu 37 4 155157044 155157064 + In_Frame_Del DEL TCCAAGGGAGTAAAGAATGAC TCCAAGGGAGTAAAGAATGAC - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 TCCAAGGGAGTAAAGAATGAC TCCAAGGGAGTAAAGAATGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 155157044 155157064 TCCAAGGGAGTAAAGAATGAC - DEL DCHS2 ENST00000357232 human ensembl 74_37 -1 known in_frame_del c.7395_7375 p.VILYSLG2459in_frame_del 0.000:0.000:0.000:0.000:0.995:0.996:0.986:1.000:1.000:0.998:1.000:1.000:0.985:0.988:0.988:0.916:0.926:0.047:0.000:0.025:0.013 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 57 0 0 239 15 5.90551 KLF3 0 genome.wustl.edu 37 4 38691387 38691388 + Frame_Shift_Ins INS - - A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 38691387 38691388 - A INS KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_ins c.582_583 p.I196fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 30 0 0 169 39 18.75 AASDH 0 genome.wustl.edu 37 4 57220269 57220269 + Frame_Shift_Del DEL A A - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 57220269 57220269 A - DEL AASDH ENST00000205214 human ensembl 74_37 -1 known frame_shift_del c.1319 p.L440fs 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 28 0 0 143 12 7.74194 PTPN13 0 genome.wustl.edu 37 4 87622606 87622607 + Frame_Shift_Ins INS - - A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 4 87622606 87622607 - A INS PTPN13 ENST00000436978 human ensembl 74_37 +1 known frame_shift_ins c.847_848 p.P286fs 0.932:0.941 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 16 0 0 93 6 6.06061 AP3S1 0 genome.wustl.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 5 115202418 115202421 AAGA - DEL AP3S1 ENST00000316788 human ensembl 74_37 +1 known frame_shift_del c.121_124 p.K41fs 1.000:1.000:1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 21 0 0 132 7 5.03597 RIMS2 0 genome.wustl.edu 37 8 105263942 105263942 + Frame_Shift_Del DEL T T - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 8 105263942 105263942 T - DEL RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_del c.3944 p.F1316fs 1.000 superfamily_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 89 0 0 534 60 10.101 TMC1 0 genome.wustl.edu 37 9 75450910 75450910 + RNA DEL A A - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 9 75450910 75450910 A - DEL TMC1 ENST00000486417 human ensembl 74_37 +1 known rna NULL NULL 0.859 - - - no_errors TMC1 HGNC ENSG00000165091 16 0 0 110 36 24.6575 MAMLD1 0 genome.wustl.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 149639325 149639327 CAG - DEL MAMLD1 ENST00000432680 human ensembl 74_37 +1 known in_frame_del c.1405_1407 p.Q472in_frame_del 0.006:0.000:0.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 11 0 0 129 8 5.83942 ARR3 0 genome.wustl.edu 37 X 69497636 69497637 + Frame_Shift_Ins INS - - C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc X 69497636 69497637 - C INS ARR3 ENST00000307959 human ensembl 74_37 +1 known frame_shift_ins c.680_681 p.K227fs 0.997:0.998 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 8 0 0 48 8 14.2857