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 TRMT13 0 genome.wustl.edu 37 1 100613741 100613741 + Nonsense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 100613741 100613741 G A SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known nonsense c.1109 p.W370* 1.000 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 173 0 0 63 27 30 FNDC7 0 genome.wustl.edu 37 1 109275933 109275933 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 109275933 109275933 G A SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.1922 p.G641D 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 328 0 0 157 41 20.7071 TARDBP 0 genome.wustl.edu 37 1 11073960 11073960 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 11073960 11073960 G A SNP TARDBP ENST00000240185 human ensembl 74_37 +1 known missense c.176 p.G59E 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC ENSG00000120948 164 0 0 67 21 23.8636 KCND3 0 genome.wustl.edu 37 1 112329676 112329676 + Missense_Mutation SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 112329676 112329676 A G SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.1159 p.C387R 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 109 0 0 46 15 24.5902 AMPD1 0 genome.wustl.edu 37 1 115218621 115218621 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 115218621 115218621 A C SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1491 p.D497E 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 208 0 0 75 21 21.875 IGSF3 0 genome.wustl.edu 37 1 117156429 117156429 + Silent SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 117156429 117156429 G T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.790 p.R264 0.995 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 86 0 0 59 4 6.34921 PRAMEF12 0 genome.wustl.edu 37 1 12837238 12837238 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 12837238 12837238 G A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known silent c.948 p.P316 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 288 0 0 143 46 24.3386 PPIAL4A 0 genome.wustl.edu 37 1 147955256 147955256 + Missense_Mutation SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 147955256 147955256 A G SNP PPIAL4A ENST00000539781 human ensembl 74_37 -1 known missense c.89 p.L30P 0.972 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4A HGNC ENSG00000255963 46 0 0 23 3 11.5385 HRNR 0 genome.wustl.edu 37 1 152188847 152188847 + Missense_Mutation SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 152188847 152188847 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5258 p.V1753A 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 34 0 0 54 8 12.9032 FLG2 0 genome.wustl.edu 37 1 152323428 152323428 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 152323428 152323428 T G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.6834 p.Q2278H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 518 0 0 222 50 18.3824 LAMB3 0 genome.wustl.edu 37 1 209801395 209801395 + Missense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 209801395 209801395 G T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.1273 p.P425T 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 21 0 0 13 2 13.3333 ESRRG 0 genome.wustl.edu 37 1 216680423 216680423 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 216680423 216680423 C T SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.1235 p.R412H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 126 0 0 60 14 18.9189 WDR26 0 genome.wustl.edu 37 1 224588663 224588663 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 224588663 224588663 A C SNP WDR26 ENST00000414423 human ensembl 74_37 -1 known missense c.1408 p.F470V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 67 0 0 40 11 21.5686 LYST 0 genome.wustl.edu 37 1 235916455 235916455 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 235916455 235916455 A C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.7349 p.L2450R 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 144 0 0 42 11 20.7547 PLD5 0 genome.wustl.edu 37 1 242383296 242383296 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 242383296 242383296 C T SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known silent c.729 p.L243 0.991 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 86 0 0 46 7 13.2075 OR2T2 0 genome.wustl.edu 37 1 248616883 248616883 + Missense_Mutation SNP T T A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 248616883 248616883 T A SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.785 p.L262Q 0.339 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 OR2T2 HGNC ENSG00000196240 23 0 0 12 3 20 TP73 0 genome.wustl.edu 37 1 3649564 3649564 + Missense_Mutation SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 3649564 3649564 A G SNP TP73 ENST00000378295 human ensembl 74_37 +1 known missense c.1832 p.D611G 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 20 0 0 7 3 30 MACF1 0 genome.wustl.edu 37 1 39801200 39801200 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 39801200 39801200 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative silent c.9051 p.V3017 0.013 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_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 MACF1 HGNC ENSG00000127603 136 0 0 47 10 17.5439 NASP 0 genome.wustl.edu 37 1 46083181 46083181 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 46083181 46083181 C T SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.2210 p.A737V 1.000 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 105 1 0.943396 56 18 24.3243 IL23R 0 genome.wustl.edu 37 1 67666558 67666558 + Silent SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 67666558 67666558 G T SNP IL23R ENST00000347310 human ensembl 74_37 +1 known silent c.630 p.L210 0.283 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 171 0 0 74 13 14.9425 PLEKHN1 0 genome.wustl.edu 37 1 908657 908657 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 908657 908657 G A SNP PLEKHN1 ENST00000379409 human ensembl 74_37 +1 known missense c.1400 p.R467Q 0.000 NULL smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 9 0 0 7 5 41.6667 EVI5 0 genome.wustl.edu 37 1 93073222 93073222 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 93073222 93073222 T G SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known missense c.1875 p.K625N 0.991 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 61 0 0 17 9 34.6154 MLLT10 0 genome.wustl.edu 37 10 21827857 21827857 + RNA SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 21827857 21827857 C T SNP MLLT10 ENST00000471315 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors MLLT10 HGNC ENSG00000078403 92 0 0 34 9 20.9302 THNSL1 0 genome.wustl.edu 37 10 25313384 25313384 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 25313384 25313384 G C SNP THNSL1 ENST00000376356 human ensembl 74_37 +1 known missense c.1232 p.G411A 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like - no_errors THNSL1 HGNC ENSG00000185875 209 0 0 70 20 22.2222 OR13A1 0 genome.wustl.edu 37 10 45799788 45799788 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 45799788 45799788 G A SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known missense c.83 p.T28I 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 157 0 0 61 16 20.7792 ZWINT 0 genome.wustl.edu 37 10 58119894 58119894 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 58119894 58119894 C G SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.141 p.Q47H 0.787 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 72 0 0 36 14 28 HERC4 0 genome.wustl.edu 37 10 69682805 69682805 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 69682805 69682805 G A SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known silent c.3057 p.L1019 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 359 1 0.277778 140 38 21.3483 CDH23 0 genome.wustl.edu 37 10 73559288 73559288 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 73559288 73559288 C G SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known missense c.544 p.L182V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 266 0 0 140 35 20 GATA3 0 genome.wustl.edu 37 10 8115837 8115837 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 8115837 8115837 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.1186 p.A396T 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 241 1 0.413223 126 31 19.7452 TUBB8 0 genome.wustl.edu 37 10 94004 94004 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 94004 94004 C T SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.328 p.A110T 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 52 0 0 45 8 15.0943 R3HCC1L 0 genome.wustl.edu 37 10 99969588 99969588 + Missense_Mutation SNP A A T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 99969588 99969588 A T SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known missense c.1717 p.I573F 0.000 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 228 0 0 92 25 21.3675 SLC35F2 0 genome.wustl.edu 37 11 107663450 107663450 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 107663450 107663450 G A SNP SLC35F2 ENST00000429869 human ensembl 74_37 -1 known missense c.1016 p.T339M 0.694 pfam_SLC35_F1/F2/F6 pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35F2 HGNC ENSG00000110660 72 0 0 45 6 11.7647 NPAT 0 genome.wustl.edu 37 11 108043025 108043025 + Missense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 108043025 108043025 G T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.2686 p.P896T 0.244 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 264 0 0 116 8 6.45161 KMT2A 0 genome.wustl.edu 37 11 118363776 118363776 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 118363776 118363776 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.5000 p.A1667V 1.000 smart_Bromodomain,pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 261 1 0.381679 88 21 19.2661 TOLLIP 0 genome.wustl.edu 37 11 1311591 1311591 + Nonsense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 1311591 1311591 G A SNP TOLLIP ENST00000317204 human ensembl 74_37 -1 known nonsense c.232 p.R78* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE - no_errors TOLLIP HGNC ENSG00000078902 80 0 0 45 15 25 PHLDA2 0 genome.wustl.edu 37 11 2950325 2950325 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 2950325 2950325 C A SNP PHLDA2 ENST00000314222 human ensembl 74_37 -1 known missense c.270 p.W90C 1.000 smart_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology - no_errors PHLDA2 HGNC ENSG00000181649 71 0 0 40 9 18.3673 ALX4 0 genome.wustl.edu 37 11 44331170 44331170 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 44331170 44331170 G A SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known missense c.443 p.A148V 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 26 0 0 16 3 15.7895 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5624742 5624742 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 5624742 5624742 A C SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.284 p.N95T 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 132 0 0 57 9 13.6364 OR52E4 0 genome.wustl.edu 37 11 5905586 5905586 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 5905586 5905586 C A SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known missense c.64 p.L22M 0.774 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 286 0 0 130 22 14.4737 EHD1 0 genome.wustl.edu 37 11 64622309 64622309 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 64622309 64622309 G A SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known silent c.1101 p.D367 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 482 0 0 308 42 12 SPTBN2 0 genome.wustl.edu 37 11 66457754 66457754 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 66457754 66457754 C A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5566 p.V1856F 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 35 0 0 31 2 6.06061 ADRBK1 0 genome.wustl.edu 37 11 67046685 67046685 + Nonsense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 11 67046685 67046685 C T SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known nonsense c.205 p.R69* 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 103 0 0 43 11 20.3704 STAB2 0 genome.wustl.edu 37 12 104106194 104106194 + Missense_Mutation SNP T T A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 12 104106194 104106194 T A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.4384 p.F1462I 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 162 0 0 84 18 17.6471 SLC15A4 0 genome.wustl.edu 37 12 129293454 129293454 + Silent SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 12 129293454 129293454 C A SNP SLC15A4 ENST00000266771 human ensembl 74_37 -1 known silent c.1137 p.L379 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC ENSG00000139370 194 0 0 109 16 12.8 CACNB3 0 genome.wustl.edu 37 12 49220834 49220834 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 12 49220834 49220834 C T SNP CACNB3 ENST00000301050 human ensembl 74_37 +1 known silent c.1068 p.Y356 1.000 superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 341 0 0 161 43 21.0784 PFDN5 0 genome.wustl.edu 37 12 53689386 53689386 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 12 53689386 53689386 T G SNP PFDN5 ENST00000551018 human ensembl 74_37 +1 known missense c.35 p.L12R 1.000 superfamily_Prefoldin,tigrfam_PFD_alpha pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha - no_errors PFDN5 HGNC ENSG00000123349 240 0 0 124 35 22.0126 COPZ1 0 genome.wustl.edu 37 12 54741794 54741794 + Nonsense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 12 54741794 54741794 G T SNP COPZ1 ENST00000262061 human ensembl 74_37 +1 known nonsense c.406 p.E136* 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_AP_mu_sigma_su,superfamily_Longin-like_dom - no_errors COPZ1 HGNC ENSG00000111481 114 0 0 52 13 20 IKZF4 0 genome.wustl.edu 37 12 56415240 56415240 + RNA SNP T T A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 12 56415240 56415240 T A SNP IKZF4 ENST00000547668 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors IKZF4 HGNC ENSG00000123411 13 0 0 7 5 41.6667 COPS7A 0 genome.wustl.edu 37 12 6839863 6839863 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 12 6839863 6839863 T G SNP COPS7A ENST00000229251 human ensembl 74_37 +1 known missense c.665 p.V222G 0.993 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS7A HGNC ENSG00000111652 116 1 0.854701 55 23 29.4872 C12orf55 0 genome.wustl.edu 37 12 97045414 97045414 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 12 97045414 97045414 C T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4921 p.R1641W 0.993 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 177 0 0 56 13 18.8406 TUBA3C 0 genome.wustl.edu 37 13 19753576 19753576 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 13 19753576 19753576 C A SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.131 p.G44V 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 235 0 0 115 25 17.8571 SLC7A1 0 genome.wustl.edu 37 13 30096542 30096542 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 13 30096542 30096542 C A SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known missense c.1101 p.E367D 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 236 0 0 132 7 5.03597 NBEA 0 genome.wustl.edu 37 13 35756602 35756602 + Missense_Mutation SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 13 35756602 35756602 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4768 p.T1590A 0.758 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 126 0 0 48 5 9.43396 FREM2 0 genome.wustl.edu 37 13 39265503 39265503 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 13 39265503 39265503 A C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.4022 p.Y1341S 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 112 0 0 39 16 29.0909 TNFSF11 0 genome.wustl.edu 37 13 43181028 43181028 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 13 43181028 43181028 G A SNP TNFSF11 ENST00000239849 human ensembl 74_37 +1 known missense c.928 p.A310T 1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF11 HGNC ENSG00000120659 197 0 0 68 19 21.8391 RCBTB1 0 genome.wustl.edu 37 13 50141342 50141342 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 13 50141342 50141342 C T SNP RCBTB1 ENST00000258646 human ensembl 74_37 -1 known missense c.74 p.C25Y 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 85 0 0 51 10 16.3934 AHNAK2 0 genome.wustl.edu 37 14 105414259 105414259 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 14 105414259 105414259 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7529 p.A2510V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 555 2 0.359066 297 85 22.2513 ENSG00000244306 0 genome.wustl.edu 37 14 19856759 19856759 + RNA SNP A A T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 14 19856759 19856759 A T SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 10 0 0 5 3 37.5 FOXG1 0 genome.wustl.edu 37 14 29237469 29237469 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 14 29237469 29237469 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known silent c.984 p.N328 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 360 0 0 210 51 19.5402 NIN 0 genome.wustl.edu 37 14 51237170 51237170 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 14 51237170 51237170 T C SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.1370 p.Q457R 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 118 0 0 53 13 19.697 BMP4 0 genome.wustl.edu 37 14 54418777 54418777 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 14 54418777 54418777 C T SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known missense c.164 p.R55Q 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 150 0 0 85 32 27.3504 KTN1 0 genome.wustl.edu 37 14 56079048 56079048 + Silent SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 14 56079048 56079048 T C SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known silent c.282 p.D94 0.989 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 177 0 0 55 15 21.4286 ACOT2 0 genome.wustl.edu 37 14 74036520 74036520 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 14 74036520 74036520 C T SNP ACOT2 ENST00000238651 human ensembl 74_37 +1 known silent c.576 p.L192 0.301 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 14 0 0 26 8 23.5294 ENSG00000258654 0 genome.wustl.edu 37 15 20554706 20554706 + Splice_Site SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 15 20554706 20554706 T C SNP ENSG00000258654 ENST00000554815 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.015 - - - no_errors RP11-509A17.3 Clone_based_vega_gene ENSG00000258654 8 0 0 2 4 66.6667 OR4N4 0 genome.wustl.edu 37 15 22382738 22382738 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 15 22382738 22382738 A C SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.266 p.K89T 0.944 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 240 0 0 96 14 12.7273 NIPA2 0 genome.wustl.edu 37 15 23006656 23006656 + Silent SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 15 23006656 23006656 G T SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known silent c.648 p.P216 0.311 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 235 0 0 78 19 19.5876 RPUSD2 0 genome.wustl.edu 37 15 40864085 40864085 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 15 40864085 40864085 G A SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.889 p.V297I 1.000 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 164 0 0 83 8 8.79121 TYRO3 0 genome.wustl.edu 37 15 41870130 41870130 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 15 41870130 41870130 C G SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.2329 p.P777A 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 109 0 0 44 14 24.1379 SMAD3 0 genome.wustl.edu 37 15 67473722 67473722 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 15 67473722 67473722 C T SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.802 p.R268C 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 119 0 0 51 34 40 RHBDF1 0 genome.wustl.edu 37 16 112539 112539 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 112539 112539 A C SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.950 p.M317R 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 232 0 0 168 11 6.14525 C1QTNF8 0 genome.wustl.edu 37 16 1144784 1144784 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 1144784 1144784 G A SNP C1QTNF8 ENST00000328449 human ensembl 74_37 -1 known silent c.139 p.L47 0.016 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF8 HGNC ENSG00000184471 102 0 0 58 12 17.1429 TPSD1 0 genome.wustl.edu 37 16 1306981 1306981 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 1306981 1306981 G A SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known silent c.438 p.T146 0.534 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 85 0 0 55 11 16.6667 MYH11 0 genome.wustl.edu 37 16 15835704 15835704 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 15835704 15835704 C G SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.2586 p.Q862H 0.997 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 216 0 0 129 34 20.8589 SRCAP 0 genome.wustl.edu 37 16 30750475 30750475 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 30750475 30750475 G C SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.9114 p.L3038F 0.510 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 120 0 0 52 17 24.6377 ZNF646 0 genome.wustl.edu 37 16 31091735 31091735 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 31091735 31091735 G C SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.4090 p.V1364L 0.387 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 140 0 0 90 23 20.354 TSNAXIP1 0 genome.wustl.edu 37 16 67859121 67859121 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 67859121 67859121 G C SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.598 p.D200H 0.991 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 140 0 0 77 14 15.3846 AP1G1 0 genome.wustl.edu 37 16 71823368 71823368 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 71823368 71823368 G A SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known silent c.84 p.I28 1.000 pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 110 0 0 62 17 21.519 TUBB3 0 genome.wustl.edu 37 16 90001646 90001646 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 16 90001646 90001646 C G SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.787 p.L263V 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 135 0 0 100 20 16.6667 SERPINF2 0 genome.wustl.edu 37 17 1650662 1650662 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 1650662 1650662 G A SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known missense c.571 p.V191M 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 88 0 0 41 18 30.5085 OR3A3 0 genome.wustl.edu 37 17 3324390 3324390 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 3324390 3324390 T G SNP OR3A3 ENST00000291231 human ensembl 74_37 +1 known missense c.529 p.F177V 0.884 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 OR3A3 HGNC ENSG00000159961 258 0 0 126 26 17.1053 KRTAP4-3 0 genome.wustl.edu 37 17 39323897 39323897 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 39323897 39323897 C T SNP KRTAP4-3 ENST00000391356 human ensembl 74_37 -1 known silent c.528 p.P176 0.001 NULL pfam_Keratin-assoc - no_errors KRTAP4-3 HGNC ENSG00000196156 80 0 0 47 10 17.5439 MPP2 0 genome.wustl.edu 37 17 41959741 41959741 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 41959741 41959741 G A SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.664 p.R222C 0.739 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 133 0 0 72 24 25 MRC2 0 genome.wustl.edu 37 17 60758196 60758196 + Missense_Mutation SNP T T A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 60758196 60758196 T A SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.2509 p.Y837N 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 67 0 0 25 11 30.5556 SDK2 0 genome.wustl.edu 37 17 71391442 71391442 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 71391442 71391442 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.3444 p.L1148 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 118 0 0 54 12 18.1818 SPHK1 0 genome.wustl.edu 37 17 74382950 74382950 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 74382950 74382950 G A SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known silent c.696 p.L232 0.010 smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 228 0 0 107 27 20.1493 EIF4A1 0 genome.wustl.edu 37 17 7481767 7481767 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 7481767 7481767 T C SNP EIF4A1 ENST00000293831 human ensembl 74_37 +1 known missense c.1184 p.I395T 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A1 HGNC ENSG00000161960 147 0 0 57 20 25.974 NPTX1 0 genome.wustl.edu 37 17 78449909 78449909 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 17 78449909 78449909 G A SNP NPTX1 ENST00000306773 human ensembl 74_37 -1 known missense c.338 p.S113L 0.993 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 80 0 0 59 23 28.0488 CHST9 0 genome.wustl.edu 37 18 24496429 24496429 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 18 24496429 24496429 C A SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.1126 p.D376Y 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 198 1 0.502513 73 24 24.7423 FHOD3 0 genome.wustl.edu 37 18 34297852 34297852 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 18 34297852 34297852 T C SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.2066 p.L689P 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 173 0 0 80 15 15.7895 SMAD4 0 genome.wustl.edu 37 18 48591940 48591940 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 18 48591940 48591940 C G SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1103 p.S368C 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 105 0 0 32 12 27.2727 ARHGAP28 0 genome.wustl.edu 37 18 6882152 6882152 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 18 6882152 6882152 T C SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1307 p.L436P 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 160 0 0 39 11 22 RALBP1 0 genome.wustl.edu 37 18 9530858 9530858 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 18 9530858 9530858 G A SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known silent c.1374 p.E458 0.997 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 108 0 0 38 5 11.6279 PPP4R1 0 genome.wustl.edu 37 18 9550157 9550157 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 18 9550157 9550157 C T SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known missense c.2440 p.A814T 0.028 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 82 0 0 38 19 33.3333 MYO9B 0 genome.wustl.edu 37 19 17298761 17298761 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 17298761 17298761 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.2595 p.D865 0.994 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 22 0 0 6 3 33.3333 ZNF729 0 genome.wustl.edu 37 19 22498125 22498125 + Missense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 22498125 22498125 G T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1906 p.A636S 0.063 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 ZNF729 HGNC ENSG00000196350 70 0 0 23 5 17.8571 ZBTB7A 0 genome.wustl.edu 37 19 4054833 4054833 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 4054833 4054833 G A SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.398 p.A133V 0.927 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 17 0 0 20 8 28.5714 DMRTC2 0 genome.wustl.edu 37 19 42355654 42355654 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 42355654 42355654 C G SNP DMRTC2 ENST00000269945 human ensembl 74_37 +1 known missense c.994 p.P332A 0.998 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 73 0 0 31 25 44.6429 EHD2 0 genome.wustl.edu 37 19 48220033 48220033 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 48220033 48220033 T G SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.164 p.F55C 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 81 0 0 53 43 44.7917 BCAT2 0 genome.wustl.edu 37 19 49303355 49303355 + Missense_Mutation SNP A A T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 49303355 49303355 A T SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.414 p.S138R 0.069 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 140 0 0 107 9 7.75862 PRMT1 0 genome.wustl.edu 37 19 50191446 50191446 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 50191446 50191446 G C SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known missense c.1060 p.D354H 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 316 1 0.315457 149 103 40.873 LRRC4B 0 genome.wustl.edu 37 19 51021627 51021627 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 51021627 51021627 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1343 p.S448L 0.986 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 103 0 0 86 57 39.8601 NLRP12 0 genome.wustl.edu 37 19 54304558 54304558 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 54304558 54304558 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known silent c.2679 p.L893 0.002 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 100 0 0 57 26 31.3253 C3 0 genome.wustl.edu 37 19 6712323 6712323 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 6712323 6712323 C A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1214 p.G405V 0.996 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 108 0 0 59 4 6.34921 ADAMTS10 0 genome.wustl.edu 37 19 8668647 8668647 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 8668647 8668647 C T SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.557 p.R186H 0.997 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 61 0 0 37 10 21.2766 MUC16 0 genome.wustl.edu 37 19 9048395 9048395 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 19 9048395 9048395 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.33236 p.A11079V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 198 0 0 72 21 22.5806 MAP4K4 0 genome.wustl.edu 37 2 102480317 102480317 + Missense_Mutation SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 102480317 102480317 A G SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.1901 p.N634S 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 489 0 0 219 49 18.2836 MYO7B 0 genome.wustl.edu 37 2 128388868 128388868 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 128388868 128388868 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known silent c.4947 p.L1649 0.963 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 68 0 0 43 20 31.746 LRP1B 0 genome.wustl.edu 37 2 141533778 141533778 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 141533778 141533778 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5389 p.L1797V 1.000 smart_LDLR_classB_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 55 0 0 25 4 13.7931 LRP1B 0 genome.wustl.edu 37 2 141598583 141598583 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 141598583 141598583 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5018 p.T1673M 1.000 smart_LDLR_classB_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 137 0 0 49 10 16.9492 MARCH7 0 genome.wustl.edu 37 2 160602345 160602345 + Silent SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 160602345 160602345 A C SNP MARCH7 ENST00000259050 human ensembl 74_37 +1 known silent c.411 p.T137 0.954 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 59 0 0 21 4 16 SCN3A 0 genome.wustl.edu 37 2 166019183 166019183 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 166019183 166019183 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.850 p.D284N 0.963 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 136 0 0 53 10 15.873 TTN 0 genome.wustl.edu 37 2 179433673 179433673 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 179433673 179433673 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.69482 p.K23161T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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 277 0 0 116 18 13.4328 TTN 0 genome.wustl.edu 37 2 179437148 179437148 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 179437148 179437148 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.66007 p.T22003P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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 81 0 0 34 7 17.0732 TTN 0 genome.wustl.edu 37 2 179457585 179457585 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 179457585 179457585 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.51557 p.K17186T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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 334 0 0 127 24 15.894 MAP2 0 genome.wustl.edu 37 2 210560638 210560638 + Silent SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 210560638 210560638 G T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.3744 p.L1248 0.903 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 112 0 0 57 18 24 ERBB4 0 genome.wustl.edu 37 2 212488720 212488720 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 212488720 212488720 A C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2129 p.L710R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 103 0 0 40 13 24.5283 ABCB6 0 genome.wustl.edu 37 2 220075736 220075736 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 220075736 220075736 C T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.2063 p.R688H 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 116 0 0 54 17 23.9437 ASIC4 0 genome.wustl.edu 37 2 220397112 220397112 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 220397112 220397112 T G SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known missense c.1312 p.S438A 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 77 0 0 61 14 18.6667 BIRC6 0 genome.wustl.edu 37 2 32673903 32673903 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 32673903 32673903 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.4525 p.D1509N 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 119 0 0 27 8 22.8571 LHCGR 0 genome.wustl.edu 37 2 48915121 48915121 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 48915121 48915121 T G SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1815 p.K605N 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 226 0 0 76 20 20.8333 SMYD5 0 genome.wustl.edu 37 2 73453032 73453032 + Missense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 73453032 73453032 G T SNP SMYD5 ENST00000389501 human ensembl 74_37 +1 known missense c.1215 p.E405D 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 95 0 0 34 11 24.4444 SEMA4F 0 genome.wustl.edu 37 2 74907203 74907203 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 74907203 74907203 C T SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.2180 p.P727L 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 152 0 0 61 6 8.95522 LYG1 0 genome.wustl.edu 37 2 99901213 99901213 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 99901213 99901213 G C SNP LYG1 ENST00000308528 human ensembl 74_37 -1 known missense c.404 p.T135S 0.005 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 125 0 0 52 21 28.7671 SNORA71A 0 genome.wustl.edu 37 20 37056007 37056007 + RNA SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 20 37056007 37056007 C A SNP SNORA71A ENST00000364729 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SNORA71A HGNC ENSG00000225091 259 0 0 140 41 22.6519 SNX21 0 genome.wustl.edu 37 20 44469462 44469462 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 20 44469462 44469462 G A SNP SNX21 ENST00000491381 human ensembl 74_37 +1 known missense c.632 p.R211H 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX21 HGNC ENSG00000124104 231 0 0 138 37 21.1429 CASS4 0 genome.wustl.edu 37 20 55027211 55027211 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 20 55027211 55027211 G A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.979 p.V327I 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 130 0 0 63 8 11.2676 GNAS 0 genome.wustl.edu 37 20 57429490 57429490 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 20 57429490 57429490 C T SNP GNAS ENST00000306120 human ensembl 74_37 +1 putative missense c.980 p.P327L 0.003 NULL NULL - no_errors GNAS HGNC ENSG00000087460 18 0 0 12 4 25 UCKL1 0 genome.wustl.edu 37 20 62577488 62577488 + RNA SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 20 62577488 62577488 C T SNP UCKL1 ENST00000492660 human ensembl 74_37 -1 known rna NULL NULL 0.118 - - - no_errors UCKL1 HGNC ENSG00000198276 39 0 0 26 13 33.3333 ANKRD20A11P 0 genome.wustl.edu 37 21 15342375 15342375 + RNA SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 21 15342375 15342375 A C SNP ANKRD20A11P ENST00000429521 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 233 0 0 72 20 21.7391 KRTAP10-4 0 genome.wustl.edu 37 21 45993856 45993856 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 21 45993856 45993856 C G SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known missense c.221 p.P74R 0.124 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 213 0 0 150 34 18.4783 TEKT4P2 0 genome.wustl.edu 37 21 9907198 9907198 + RNA SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 21 9907198 9907198 C T SNP TEKT4P2 ENST00000416067 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors TEKT4P2 HGNC ENSG00000188681 19 0 0 16 4 20 CSF2RB 0 genome.wustl.edu 37 22 37334402 37334402 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 22 37334402 37334402 T C SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.2570 p.L857P 0.000 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 489 0 0 243 80 24.7678 SREBF2 0 genome.wustl.edu 37 22 42264622 42264622 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 22 42264622 42264622 G A SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known silent c.546 p.Q182 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 127 0 0 75 22 22.6804 TUBGCP6 0 genome.wustl.edu 37 22 50659280 50659280 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 22 50659280 50659280 T C SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.3508 p.S1170G 0.580 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 163 1 0.609756 107 36 25.1748 BOC 0 genome.wustl.edu 37 3 112969655 112969655 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 112969655 112969655 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known silent c.351 p.S117 0.865 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 89 0 0 64 12 15.7895 ZBTB20 0 genome.wustl.edu 37 3 114069258 114069258 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 114069258 114069258 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1667 p.A556V 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 177 0 0 167 29 14.7959 ALG1L2 0 genome.wustl.edu 37 3 129810113 129810113 + RNA SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 129810113 129810113 C T SNP ALG1L2 ENST00000503500 human ensembl 74_37 +1 known rna NULL NULL 0.366 - - - no_errors ALG1L2 HGNC ENSG00000251287 55 0 0 45 4 8.16327 CLRN1 0 genome.wustl.edu 37 3 150690403 150690403 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 150690403 150690403 C T SNP CLRN1 ENST00000328863 human ensembl 74_37 -1 known silent c.93 p.P31 0.048 NULL NULL - no_errors CLRN1 HGNC ENSG00000163646 184 0 0 81 25 23.5849 LEPREL1 0 genome.wustl.edu 37 3 189675736 189675736 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 189675736 189675736 G C SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.2092 p.H698D 0.250 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 130 0 0 55 6 9.83607 RPL15 0 genome.wustl.edu 37 3 23960861 23960861 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 23960861 23960861 C T SNP RPL15 ENST00000307839 human ensembl 74_37 +1 known missense c.484 p.R162C 1.000 pfam_Ribosomal_L15e,superfamily_Ribosomal_L23/L15e_core_dom pfam_Ribosomal_L15e,superfamily_Ribosomal_L23/L15e_core_dom - no_errors RPL15 HGNC ENSG00000174748 72 0 0 33 18 35.2941 DLEC1 0 genome.wustl.edu 37 3 38138170 38138170 + Missense_Mutation SNP A A T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 38138170 38138170 A T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.2282 p.Y761F 0.644 superfamily_PapD-like superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 281 0 0 129 21 14 KIF9 0 genome.wustl.edu 37 3 47282462 47282462 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 47282462 47282462 T C SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.1753 p.K585E 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 251 0 0 91 19 17.2727 RNF123 0 genome.wustl.edu 37 3 49757993 49757993 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 49757993 49757993 C T SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.3550 p.R1184C 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 119 0 0 67 18 21.1765 IL17RB 0 genome.wustl.edu 37 3 53898872 53898872 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 53898872 53898872 G C SNP IL17RB ENST00000288167 human ensembl 74_37 +1 known missense c.1046 p.C349S 0.023 pfam_SEFIR pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 160 0 0 49 14 22.2222 PPP3CA 0 genome.wustl.edu 37 4 102004362 102004362 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 102004362 102004362 G A SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known missense c.841 p.H281Y 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 687 0 0 259 75 22.4551 NDNF 0 genome.wustl.edu 37 4 121957812 121957812 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 121957812 121957812 C G SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.1314 p.R438S 0.967 pfam_DUF2369 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 322 0 0 111 13 10.4839 KLHL2 0 genome.wustl.edu 37 4 166218834 166218834 + Missense_Mutation SNP A A T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 166218834 166218834 A T SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known missense c.728 p.E243V 1.000 pfam_BACK,smart_BACK,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 KLHL2 HGNC ENSG00000109466 122 0 0 47 11 18.9655 CCDC110 0 genome.wustl.edu 37 4 186380716 186380716 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 186380716 186380716 T G SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.1025 p.K342T 0.513 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 82 0 0 42 9 17.6471 ZNF876P 0 genome.wustl.edu 37 4 247449 247449 + RNA SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 247449 247449 G A SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.699 - - - no_errors ZNF876P HGNC ENSG00000198155 64 0 0 17 7 29.1667 GRXCR1 0 genome.wustl.edu 37 4 42895566 42895566 + Missense_Mutation SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 42895566 42895566 A G SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.283 p.R95G 0.966 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 234 0 0 85 19 18.2692 YTHDC1 0 genome.wustl.edu 37 4 69202973 69202973 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 69202973 69202973 C A SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.655 p.A219S 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 36 0 0 16 2 11.1111 IGJ 0 genome.wustl.edu 37 4 71522133 71522133 + Nonsense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 71522133 71522133 G T SNP IGJ ENST00000543780 human ensembl 74_37 -1 known nonsense c.441 p.C147* 0.998 NULL NULL - no_errors IGJ HGNC ENSG00000132465 118 0 0 37 8 17.7778 C4orf36 0 genome.wustl.edu 37 4 87808972 87808972 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 87808972 87808972 T C SNP C4orf36 ENST00000295898 human ensembl 74_37 -1 known missense c.295 p.I99V 0.002 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 109 0 0 30 8 21.0526 BMPR1B 0 genome.wustl.edu 37 4 96075778 96075778 + Missense_Mutation SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 4 96075778 96075778 A G SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.1553 p.K518R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 129 0 0 40 13 24.5283 PCDHB13 0 genome.wustl.edu 37 5 140594608 140594608 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 5 140594608 140594608 A C SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.913 p.K305Q 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 292 0 0 72 32 30.7692 TBC1D9B 0 genome.wustl.edu 37 5 179290573 179290573 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 5 179290573 179290573 C T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.3628 p.E1210K 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 104 0 0 50 14 21.875 RASGEF1C 0 genome.wustl.edu 37 5 179548126 179548126 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 5 179548126 179548126 G C SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.738 p.S246R 0.929 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 120 0 0 41 18 30.5085 CDH9 0 genome.wustl.edu 37 5 26903894 26903894 + Missense_Mutation SNP C C A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 5 26903894 26903894 C A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.851 p.G284V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 196 0 0 56 17 23.2877 GDNF 0 genome.wustl.edu 37 5 37816105 37816105 + Missense_Mutation SNP G G C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 5 37816105 37816105 G C SNP GDNF ENST00000326524 human ensembl 74_37 -1 known missense c.284 p.A95G 0.228 pirsf_GDNF pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF - no_errors GDNF HGNC ENSG00000168621 208 0 0 73 24 24.7423 MRPS30 0 genome.wustl.edu 37 5 44809568 44809568 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 5 44809568 44809568 G A SNP MRPS30 ENST00000507110 human ensembl 74_37 +1 known silent c.504 p.E168 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 101 0 0 48 14 22.5806 RASA1 0 genome.wustl.edu 37 5 86645051 86645051 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 5 86645051 86645051 C G SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1123 p.L375V 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 188 0 0 58 4 6.45161 GRIK2 0 genome.wustl.edu 37 6 102372513 102372513 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 102372513 102372513 A C SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.1786 p.N596H 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 136 0 0 40 12 23.0769 GPRC6A 0 genome.wustl.edu 37 6 117127751 117127751 + Missense_Mutation SNP T T A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 117127751 117127751 T A SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.1117 p.S373C 0.843 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 111 0 0 33 10 23.2558 STL 0 genome.wustl.edu 37 6 125232053 125232053 + RNA SNP A A T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 125232053 125232053 A T SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 127 0 0 41 12 22.6415 STX7 0 genome.wustl.edu 37 6 132796769 132796769 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 132796769 132796769 C T SNP STX7 ENST00000367941 human ensembl 74_37 -1 known missense c.118 p.G40R 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX7 HGNC ENSG00000079950 35 0 0 12 2 14.2857 CCDC28A 0 genome.wustl.edu 37 6 139097404 139097404 + Silent SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 139097404 139097404 A G SNP CCDC28A ENST00000332797 human ensembl 74_37 +1 known silent c.417 p.P139 1.000 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 130 0 0 50 11 18.0328 NMBR 0 genome.wustl.edu 37 6 142409567 142409567 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 142409567 142409567 C T SNP NMBR ENST00000258042 human ensembl 74_37 -1 known missense c.229 p.V77I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NMBR HGNC ENSG00000135577 76 0 0 40 18 31.0345 UTRN 0 genome.wustl.edu 37 6 145114972 145114972 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 145114972 145114972 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.8923 p.L2975F 1.000 pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 204 0 0 53 29 35.3659 ULBP1 0 genome.wustl.edu 37 6 150290350 150290350 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 150290350 150290350 C T SNP ULBP1 ENST00000229708 human ensembl 74_37 +1 known missense c.479 p.A160V 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 144 0 0 74 20 21.2766 FNDC1 0 genome.wustl.edu 37 6 159692384 159692384 + Missense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 159692384 159692384 G T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.5595 p.E1865D 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 39 0 0 12 6 33.3333 SAPCD1 0 genome.wustl.edu 37 6 31731858 31731858 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 31731858 31731858 A C SNP SAPCD1 ENST00000415669 human ensembl 74_37 +1 known missense c.273 p.L91F 0.008 pfam_APC_dom pfam_APC_dom - no_errors SAPCD1 HGNC ENSG00000228727 131 0 0 24 24 50 TUBB2B 0 genome.wustl.edu 37 6 3226001 3226001 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 3226001 3226001 C G SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known missense c.322 p.E108Q 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 40 0 0 18 13 41.9355 LRFN2 0 genome.wustl.edu 37 6 40360102 40360102 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 40360102 40360102 C T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known silent c.1950 p.K650 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 29 0 0 18 6 25 PKHD1 0 genome.wustl.edu 37 6 51609229 51609229 + Silent SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 51609229 51609229 T C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.10110 p.V3370 0.997 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 252 0 0 86 26 23.2143 TTK 0 genome.wustl.edu 37 6 80750377 80750377 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 6 80750377 80750377 T G SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2447 p.L816R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 133 0 0 45 14 23.7288 MET 0 genome.wustl.edu 37 7 116339156 116339156 + Silent SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 116339156 116339156 G T SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.18 p.V6 0.854 pirsf_Tyr_kinase_HGF/MSP_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 111 0 0 72 8 10 TMEM209 0 genome.wustl.edu 37 7 129841736 129841736 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 129841736 129841736 G A SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known missense c.527 p.S176F 0.829 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 63 0 0 38 6 13.6364 PLXNA4 0 genome.wustl.edu 37 7 132192789 132192789 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 132192789 132192789 A C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.664 p.F222V 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 185 1 0.537634 84 48 36.3636 NOBOX 0 genome.wustl.edu 37 7 144098486 144098486 + Missense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 144098486 144098486 G T SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known missense c.497 p.A166D 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 69 0 0 29 13 30.9524 ZNF767 0 genome.wustl.edu 37 7 149318238 149318238 + RNA SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 149318238 149318238 G A SNP ZNF767 ENST00000472212 human ensembl 74_37 -1 known rna NULL NULL 0.958 - - - no_errors ZNF767 HGNC ENSG00000133624 142 0 0 84 16 16 ITGB8 0 genome.wustl.edu 37 7 20438596 20438596 + Silent SNP A A G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 20438596 20438596 A G SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known silent c.1260 p.R420 0.703 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 86 0 0 38 10 20.8333 ELMO1 0 genome.wustl.edu 37 7 37172752 37172752 + Missense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 37172752 37172752 G T SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1174 p.Q392K 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 115 0 0 38 24 38.7097 ZNF733P 0 genome.wustl.edu 37 7 62752525 62752525 + RNA SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 62752525 62752525 C G SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 33 0 0 23 4 14.8148 PMS2P4 0 genome.wustl.edu 37 7 66764301 66764301 + RNA SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 66764301 66764301 T C SNP PMS2P4 ENST00000414507 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PMS2P4 HGNC ENSG00000067601 666 0 0 336 51 13.1783 RSBN1L 0 genome.wustl.edu 37 7 77326150 77326150 + Nonsense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 77326150 77326150 C T SNP RSBN1L ENST00000334955 human ensembl 74_37 +1 known nonsense c.364 p.Q122* 0.995 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 67 0 0 52 19 26.7606 KIAA1324L 0 genome.wustl.edu 37 7 86570669 86570669 + Missense_Mutation SNP T T A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 86570669 86570669 T A SNP KIAA1324L ENST00000297222 human ensembl 74_37 -1 known missense c.20 p.Q7L 0.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 95 0 0 39 6 13.3333 SLC25A13 0 genome.wustl.edu 37 7 95813719 95813719 + Silent SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 95813719 95813719 G A SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known silent c.1050 p.I350 0.773 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 78 0 0 26 13 33.3333 DCAF13 0 genome.wustl.edu 37 8 104427493 104427493 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 104427493 104427493 C G SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.275 p.A92G 0.000 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 312 0 0 192 51 20.9877 CSMD3 0 genome.wustl.edu 37 8 113650972 113650972 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 113650972 113650972 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.3479 p.I1160S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 84 0 0 38 5 11.6279 COL14A1 0 genome.wustl.edu 37 8 121216104 121216104 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 121216104 121216104 T G SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.1034 p.I345S 1.000 NULL pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 79 0 0 38 25 39.6825 KLHL38 0 genome.wustl.edu 37 8 124664818 124664818 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 124664818 124664818 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known missense c.349 p.P117S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 64 0 0 59 13 18.0556 MFSD3 0 genome.wustl.edu 37 8 145736098 145736098 + Missense_Mutation SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 145736098 145736098 C G SNP MFSD3 ENST00000301327 human ensembl 74_37 +1 known missense c.948 p.I316M 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD3 HGNC ENSG00000167700 107 0 0 110 28 20.2899 NEFL 0 genome.wustl.edu 37 8 24813352 24813352 + RNA SNP C C G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 24813352 24813352 C G SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 68 0 0 23 6 20.6897 CSMD1 0 genome.wustl.edu 37 8 2807833 2807833 + Missense_Mutation SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 2807833 2807833 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.10237 p.L3413M 0.972 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 260 0 0 45 17 27.4194 BRF2 0 genome.wustl.edu 37 8 37704431 37704431 + Silent SNP G G T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 37704431 37704431 G T SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known silent c.477 p.L159 0.831 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 536 0 0 289 95 24.7396 SLCO5A1 0 genome.wustl.edu 37 8 70674086 70674086 + Missense_Mutation SNP A A C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 70674086 70674086 A C SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.932 p.L311R 0.998 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 150 0 0 51 16 23.8806 MMP16 0 genome.wustl.edu 37 8 89058908 89058908 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 8 89058908 89058908 T G SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1478 p.H493P 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 84 0 0 44 8 15.3846 ADAMTS13 0 genome.wustl.edu 37 9 136319694 136319694 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 9 136319694 136319694 C T SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.3202 p.L1068F 0.349 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 58 0 0 37 19 33.9286 KCNT1 0 genome.wustl.edu 37 9 138671281 138671281 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 9 138671281 138671281 G A SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.2806 p.D936N 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 307 0 0 163 56 25.5708 IFNA10 0 genome.wustl.edu 37 9 21206707 21206707 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 9 21206707 21206707 T G SNP IFNA10 ENST00000357374 human ensembl 74_37 -1 known missense c.390 p.E130D 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC ENSG00000186803 231 0 0 97 30 23.622 SPATA31D3 0 genome.wustl.edu 37 9 84562837 84562837 + RNA SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 9 84562837 84562837 C T SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D3 HGNC ENSG00000186788 35 0 0 20 3 13.0435 MT-CO1 0 genome.wustl.edu 37 MT 6382 6382 + Missense_Mutation SNP G G A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 MT 6382 6382 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.479 p.G160E NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 10 0 0 77 5 6.09756 TBC1D8B 0 genome.wustl.edu 37 X 106110048 106110048 + Missense_Mutation SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 X 106110048 106110048 T C SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.2684 p.F895S 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 100 0 0 23 14 37.8378 TRPC5 0 genome.wustl.edu 37 X 111155847 111155847 + Missense_Mutation SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 X 111155847 111155847 C T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.572 p.R191H 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 105 0 0 55 31 36.0465 DMD 0 genome.wustl.edu 37 X 32867866 32867866 + Missense_Mutation SNP T T A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 X 32867866 32867866 T A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.165 p.E55D 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 73 0 0 22 16 42.1053 ACRC 0 genome.wustl.edu 37 X 70823607 70823607 + Silent SNP C C T TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 X 70823607 70823607 C T SNP ACRC ENST00000373695 human ensembl 74_37 +1 known silent c.480 p.D160 0.358 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 316 0 0 153 14 8.38323 ZCCHC5 0 genome.wustl.edu 37 X 77913793 77913793 + Missense_Mutation SNP T T G TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 X 77913793 77913793 T G SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.125 p.K42T 0.512 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 35 0 0 3 5 62.5 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037835 10037835 + RNA SNP T T C TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 Y 10037835 10037835 T C SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 45 0 0 19 4 17.3913 CFHR2 0 genome.wustl.edu 37 1 196927133 196927146 + Frame_Shift_Del DEL GTATCAACTTGAGG GTATCAACTTGAGG - TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 GTATCAACTTGAGG GTATCAACTTGAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 1 196927133 196927146 GTATCAACTTGAGG - DEL CFHR2 ENST00000367415 human ensembl 74_37 +1 known frame_shift_del c.543_556 p.Y182fs 0.000:0.006:0.006:0.001:0.000:0.000:0.018:0.140:0.136:0.007:0.004:0.120:0.139:0.220 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 256 0 0 88 11 11.1111 MBL1P 0 genome.wustl.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 10 81680656 81680656 A - DEL MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MBL1P HGNC ENSG00000242600 23 0 0 16 5 23.8095 C15orf27 0 genome.wustl.edu 37 15 76494574 76494600 + In_Frame_Del DEL CATCAGTCAGTATTACAATGGGCCCAG CATCAGTCAGTATTACAATGGGCCCAG - TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 CATCAGTCAGTATTACAATGGGCCCAG CATCAGTCAGTATTACAATGGGCCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 15 76494574 76494600 CATCAGTCAGTATTACAATGGGCCCAG - DEL C15orf27 ENST00000388942 human ensembl 74_37 +1 known in_frame_del c.990_1016 p.ISQYYNGPS331in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:0.938:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.991:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 113 0 0 37 6 13.9535 KYNU 0 genome.wustl.edu 37 2 143798029 143798030 + Frame_Shift_Ins INS - - A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 2 143798029 143798030 - A INS KYNU ENST00000264170 human ensembl 74_37 +1 known frame_shift_ins c.1074_1075 p.S360fs 0.924:1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 142 0 0 34 4 10.5263 ALDH1L1 0 genome.wustl.edu 37 3 125850299 125850312 + Frame_Shift_Del DEL CAGCGTGTAGACGG CAGCGTGTAGACGG - TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 CAGCGTGTAGACGG CAGCGTGTAGACGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 3 125850299 125850312 CAGCGTGTAGACGG - DEL ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known frame_shift_del c.1551_1538 p.A513fs 1.000:1.000:0.974:0.022:0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.971:0.490:0.998 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 188 0 0 128 21 14.094 RELN 0 genome.wustl.edu 37 7 103629803 103629804 + In_Frame_Ins INS - - GCCGCC TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 103629803 103629804 - GCCGCC INS RELN ENST00000424685 human ensembl 74_37 -1 known in_frame_ins c.1_2 p.0in_frame_insGG 1.000:1.000 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 12 0 0 14 5 26.3158 PMS2P4 0 genome.wustl.edu 37 7 66764300 66764300 + RNA DEL G G - TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 7 66764300 66764300 G - DEL PMS2P4 ENST00000414507 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PMS2P4 HGNC ENSG00000067601 783 0 0 403 49 10.8407 MT-ND5 0 genome.wustl.edu 37 MT 12417 12418 + Frame_Shift_Ins INS - - A TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 MT 12417 12418 - A INS MT-ND5 ENST00000361567 human ensembl 74_37 +1 known frame_shift_ins c.81_82 p.N29fs NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 12 0 0 85 27 24.1071 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-BR-7958-01A-21D-2340-08 TCGA-BR-7958-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e8458b60-539c-4108-a0ca-142592ed3a0a d3d47851-0b03-4653-a7c0-79a26d9aae84 Y 10037863 10037863 C - DEL RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 51 0 0 31 4 11.4286