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 UBAP2L 0 genome.wustl.edu 37 1 154233469 154233469 + Nonsense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 1 154233469 154233469 C T SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known nonsense c.2680 p.Q894* 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 213 0 0 116 54 31.7647 CFH 0 genome.wustl.edu 37 1 196642297 196642297 + RNA SNP A A G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 1 196642297 196642297 A G SNP CFH ENST00000496761 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CFH HGNC ENSG00000000971 134 0 0 33 32 49.2308 NEK7 0 genome.wustl.edu 37 1 198247156 198247156 + Silent SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 1 198247156 198247156 C T SNP NEK7 ENST00000367385 human ensembl 74_37 +1 known silent c.438 p.C146 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 190 0 0 70 28 28.5714 OR13G1 0 genome.wustl.edu 37 1 247835548 247835548 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 1 247835548 247835548 C T SNP OR13G1 ENST00000359688 human ensembl 74_37 -1 known missense c.796 p.E266K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR13G1 HGNC ENSG00000197437 163 0 0 73 39 34.8214 CSF3R 0 genome.wustl.edu 37 1 36939177 36939177 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 1 36939177 36939177 C T SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.532 p.V178M 0.792 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 92 0 0 51 42 45.1613 CHUK 0 genome.wustl.edu 37 10 101978784 101978784 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 10 101978784 101978784 G C SNP CHUK ENST00000370397 human ensembl 74_37 -1 known missense c.670 p.H224D 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 167 1 0.595238 84 6 6.66667 GBF1 0 genome.wustl.edu 37 10 104119979 104119979 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 10 104119979 104119979 G A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.1216 p.E406K 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 764 0 0 491 31 5.9387 ACADSB 0 genome.wustl.edu 37 10 124794014 124794014 + Missense_Mutation SNP T T C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 10 124794014 124794014 T C SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.185 p.M62T 0.712 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 96 0 0 46 10 17.8571 CDH23 0 genome.wustl.edu 37 10 73437319 73437319 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 10 73437319 73437319 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.1636 p.E546K 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 37 0 0 13 14 51.8519 CASP5 0 genome.wustl.edu 37 11 104872902 104872902 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 104872902 104872902 G C SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.609 p.D203E 0.008 smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 150 0 0 91 14 13.3333 SLC35F2 0 genome.wustl.edu 37 11 107675446 107675446 + Missense_Mutation SNP A A T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 107675446 107675446 A T SNP SLC35F2 ENST00000429869 human ensembl 74_37 -1 known missense c.782 p.I261N 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35F2 HGNC ENSG00000110660 160 0 0 50 29 36.7089 CTR9 0 genome.wustl.edu 37 11 10795681 10795681 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 10795681 10795681 G A SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known silent c.2850 p.E950 0.846 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 112 0 0 47 7 12.963 MCAM 0 genome.wustl.edu 37 11 119183094 119183094 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 119183094 119183094 G A SNP MCAM ENST00000264036 human ensembl 74_37 -1 known silent c.906 p.N302 0.003 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 92 0 0 55 33 37.5 PDE3B 0 genome.wustl.edu 37 11 14810696 14810696 + Missense_Mutation SNP C C G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 14810696 14810696 C G SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.1323 p.S441R 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 118 0 0 60 8 11.7647 DCHS1 0 genome.wustl.edu 37 11 6651061 6651061 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 6651061 6651061 G C SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.4877 p.S1626C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 118 0 0 88 18 16.9811 INTS4 0 genome.wustl.edu 37 11 77632475 77632475 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 77632475 77632475 G C SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.1675 p.P559A 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 159 0 0 65 13 16.6667 TENM4 0 genome.wustl.edu 37 11 78380749 78380749 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 78380749 78380749 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6641 p.R2214H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 197 0 0 135 25 15.625 CCDC83 0 genome.wustl.edu 37 11 85593611 85593611 + Missense_Mutation SNP T T C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 85593611 85593611 T C SNP CCDC83 ENST00000280245 human ensembl 74_37 +1 known missense c.236 p.L79P 0.932 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 193 0 0 92 13 12.381 TRIM49C 0 genome.wustl.edu 37 11 89774338 89774338 + Missense_Mutation SNP A A C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 11 89774338 89774338 A C SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.979 p.S327R 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 59 0 0 40 9 18.3673 PRB2 0 genome.wustl.edu 37 12 11545916 11545916 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 12 11545916 11545916 G A SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known missense c.1096 p.P366S 0.003 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 551 0 0 430 23 5.07726 TMEM132D 0 genome.wustl.edu 37 12 129569152 129569152 + Missense_Mutation SNP G G T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 12 129569152 129569152 G T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1539 p.S513R 0.004 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 75 0 0 84 16 16 ATF7IP 0 genome.wustl.edu 37 12 14589055 14589055 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 12 14589055 14589055 G A SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.1661 p.R554Q 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 59 0 0 37 6 13.9535 ATF7IP 0 genome.wustl.edu 37 12 14614026 14614026 + Nonsense_Mutation SNP C C A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 12 14614026 14614026 C A SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known nonsense c.2756 p.S919* 0.994 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 99 0 0 41 39 48.75 IRAK4 0 genome.wustl.edu 37 12 44161981 44161981 + Missense_Mutation SNP T T A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 12 44161981 44161981 T A SNP IRAK4 ENST00000448290 human ensembl 74_37 +1 known missense c.67 p.S23T 1.000 pirsf_IL-1_rcpt-assoc_kin4,superfamily_DEATH-like_dom pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IRAK4 HGNC ENSG00000198001 38 0 0 29 4 12.1212 COL2A1 0 genome.wustl.edu 37 12 48387591 48387591 + Splice_Site SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 12 48387591 48387591 C T SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known splice_site c.924+1 e14+1 1.000 - - - no_errors COL2A1 HGNC ENSG00000139219 82 0 0 27 25 48.0769 ITGA7 0 genome.wustl.edu 37 12 56082736 56082736 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 12 56082736 56082736 G A SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known silent c.2982 p.C994 0.044 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 86 0 0 69 9 11.5385 NAV3 0 genome.wustl.edu 37 12 78574822 78574822 + Missense_Mutation SNP T T A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 12 78574822 78574822 T A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5689 p.S1897T 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 125 0 0 60 58 49.1525 MYO16 0 genome.wustl.edu 37 13 109379795 109379795 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 13 109379795 109379795 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.305 p.R102Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 120 0 0 54 18 25 MTUS2 0 genome.wustl.edu 37 13 29933476 29933476 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 13 29933476 29933476 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3013 p.R1005W 0.994 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 38 0 0 28 8 22.2222 SUPT20H 0 genome.wustl.edu 37 13 37622737 37622737 + Splice_Site SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 13 37622737 37622737 C T SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known splice_site c.4-1 e2-1 1.000 - - - no_errors SUPT20H HGNC ENSG00000102710 88 0 0 31 8 20.5128 LCP1 0 genome.wustl.edu 37 13 46717504 46717504 + Missense_Mutation SNP T T C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 13 46717504 46717504 T C SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known missense c.1289 p.Y430C 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 93 0 0 29 17 36.9565 OR4M1 0 genome.wustl.edu 37 14 20249366 20249366 + Missense_Mutation SNP A A C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 14 20249366 20249366 A C SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.885 p.E295D 0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 149 0 0 75 12 13.7931 OR4M1 0 genome.wustl.edu 37 14 20249373 20249373 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 14 20249373 20249373 G A SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.892 p.A298T 0.469 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 139 0 0 70 11 13.5802 SLC24A4 0 genome.wustl.edu 37 14 92915526 92915526 + Silent SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 14 92915526 92915526 C T SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known silent c.846 p.S282 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 76 0 0 38 20 34.4828 DNM1P47 0 genome.wustl.edu 37 15 102292770 102292770 + RNA SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 15 102292770 102292770 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 51 0 0 49 8 14.0351 ARL6IP1 0 genome.wustl.edu 37 16 18809256 18809256 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 16 18809256 18809256 G C SNP ARL6IP1 ENST00000304414 human ensembl 74_37 -1 known missense c.281 p.S94C 1.000 pfam_Reticulon pfam_Reticulon - no_errors ARL6IP1 HGNC ENSG00000170540 215 0 0 90 8 8.16327 ARL6IP1 0 genome.wustl.edu 37 16 18809334 18809334 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 16 18809334 18809334 G C SNP ARL6IP1 ENST00000304414 human ensembl 74_37 -1 known missense c.203 p.S68C 1.000 pfam_Reticulon pfam_Reticulon - no_errors ARL6IP1 HGNC ENSG00000170540 94 0 0 54 4 6.89655 ARL6IP1 0 genome.wustl.edu 37 16 18809360 18809360 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 16 18809360 18809360 G C SNP ARL6IP1 ENST00000304414 human ensembl 74_37 -1 known missense c.177 p.I59M 1.000 pfam_Reticulon pfam_Reticulon - no_errors ARL6IP1 HGNC ENSG00000170540 71 0 0 38 4 9.52381 ARL6IP1 0 genome.wustl.edu 37 16 18810035 18810035 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 16 18810035 18810035 G C SNP ARL6IP1 ENST00000304414 human ensembl 74_37 -1 known missense c.158 p.S53C 1.000 pfam_Reticulon pfam_Reticulon - no_errors ARL6IP1 HGNC ENSG00000170540 194 0 0 81 15 15.625 ZNF423 0 genome.wustl.edu 37 16 49670955 49670955 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 16 49670955 49670955 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2108 p.S703L 0.962 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 128 0 0 48 37 43.5294 HYDIN 0 genome.wustl.edu 37 16 70902554 70902554 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 16 70902554 70902554 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.11229 p.P3743 0.055 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 69 0 0 22 19 46.3415 KRT40 0 genome.wustl.edu 37 17 39134527 39134527 + Silent SNP C C G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 17 39134527 39134527 C G SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known silent c.1218 p.S406 0.001 NULL pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 159 0 0 112 80 41.6667 EVPL 0 genome.wustl.edu 37 17 74003289 74003289 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 17 74003289 74003289 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.5997 p.R1999 0.996 smart_Plectin_repeat pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 203 0 0 82 64 43.8356 RNF213 0 genome.wustl.edu 37 17 78350178 78350178 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 17 78350178 78350178 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.13263 p.S4421 0.026 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 214 0 0 59 39 39.7959 CNTROB 0 genome.wustl.edu 37 17 7846798 7846798 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 17 7846798 7846798 G A SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known silent c.1401 p.Q467 0.999 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 84 0 0 51 16 23.8806 DHRS7C 0 genome.wustl.edu 37 17 9694507 9694507 + Missense_Mutation SNP T T G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 17 9694507 9694507 T G SNP DHRS7C ENST00000330255 human ensembl 74_37 -1 known missense c.95 p.K32T 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7C HGNC ENSG00000184544 53 0 0 18 10 35.7143 MAN2B1 0 genome.wustl.edu 37 19 12774255 12774255 + Missense_Mutation SNP T T C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 12774255 12774255 T C SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.785 p.N262S 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 90 0 0 71 30 29.703 ABHD8 0 genome.wustl.edu 37 19 17412071 17412071 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 17412071 17412071 C T SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known missense c.355 p.V119M 0.998 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 58 0 0 49 5 9.25926 ZNF253 0 genome.wustl.edu 37 19 20002700 20002700 + Missense_Mutation SNP T T G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 20002700 20002700 T G SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known missense c.644 p.L215R 0.003 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 ZNF253 HGNC ENSG00000256771 109 0 0 70 4 5.40541 ZNF91 0 genome.wustl.edu 37 19 23542674 23542674 + Missense_Mutation SNP T T G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 23542674 23542674 T G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.3107 p.K1036T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 100 0 0 71 20 21.978 POP4 0 genome.wustl.edu 37 19 30101381 30101381 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 30101381 30101381 G A SNP POP4 ENST00000585603 human ensembl 74_37 +1 known missense c.126 p.M42I 0.537 pirsf_RNase_P/MRP_p29-subunit pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit - no_errors POP4 HGNC ENSG00000105171 21 0 0 22 8 26.6667 ZNF382 0 genome.wustl.edu 37 19 37118304 37118304 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 37118304 37118304 G C SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.1505 p.S502T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ENSG00000161298 146 0 0 55 15 21.4286 ZNF780A 0 genome.wustl.edu 37 19 40581166 40581166 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 40581166 40581166 C T SNP ZNF780A ENST00000455521 human ensembl 74_37 -1 known missense c.1186 p.G396R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780A HGNC ENSG00000197782 355 0 0 198 17 7.90698 PRKCG 0 genome.wustl.edu 37 19 54394999 54394999 + Missense_Mutation SNP A A T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 54394999 54394999 A T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.601 p.I201F 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 251 0 0 132 37 21.8935 HSD11B1L 0 genome.wustl.edu 37 19 5686455 5686455 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 5686455 5686455 C T SNP HSD11B1L ENST00000423665 human ensembl 74_37 +1 known missense c.233 p.A78V 0.946 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1L HGNC ENSG00000167733 15 0 0 10 5 33.3333 CATSPERD 0 genome.wustl.edu 37 19 5749138 5749138 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 5749138 5749138 C T SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known missense c.931 p.R311W 0.000 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 95 0 0 42 21 33.3333 ZNF134 0 genome.wustl.edu 37 19 58132516 58132516 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 58132516 58132516 G A SNP ZNF134 ENST00000396161 human ensembl 74_37 +1 known silent c.1029 p.P343 0.777 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 345 1 0.289017 211 30 12.4481 MAP2K7 0 genome.wustl.edu 37 19 7977200 7977200 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 7977200 7977200 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1270 p.R424C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 101 0 0 59 28 32.1839 MYO1F 0 genome.wustl.edu 37 19 8618058 8618058 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 8618058 8618058 C T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.469 p.A157T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 256 1 0.389105 155 61 28.2407 MUC16 0 genome.wustl.edu 37 19 9086511 9086511 + Missense_Mutation SNP A A C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 19 9086511 9086511 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5304 p.F1768L 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 113 0 0 51 19 27.1429 ENSG00000273471 0 genome.wustl.edu 37 2 111144370 111144370 + RNA SNP T T C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 111144370 111144370 T C SNP ENSG00000273471 ENST00000488671 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors RP13-1039J1.4 Clone_based_vega_gene ENSG00000273471 10 0 0 9 7 43.75 THSD7B 0 genome.wustl.edu 37 2 137852589 137852589 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 137852589 137852589 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1097 p.R366Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 101 0 0 46 9 16.3636 LRP1B 0 genome.wustl.edu 37 2 141607766 141607766 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 141607766 141607766 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4844 p.A1615V 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 157 0 0 50 14 21.875 SCN2A 0 genome.wustl.edu 37 2 166172057 166172057 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 166172057 166172057 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1460 p.S487F 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 116 0 0 60 17 22.0779 KLHL23 0 genome.wustl.edu 37 2 170598014 170598014 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 170598014 170598014 G A SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known missense c.1333 p.E445K 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 131 0 0 55 30 35.2941 GTF3C3 0 genome.wustl.edu 37 2 197657761 197657761 + Silent SNP T T C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 197657761 197657761 T C SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known silent c.330 p.E110 0.995 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 49 0 0 26 11 29.7297 OBSL1 0 genome.wustl.edu 37 2 220432115 220432115 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 220432115 220432115 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1717 p.G573R 0.567 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 37 0 0 34 4 10.5263 GIGYF2 0 genome.wustl.edu 37 2 233712181 233712181 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 233712181 233712181 G A SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known missense c.3650 p.R1217H 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 70 0 0 43 16 27.1186 ZNF512 0 genome.wustl.edu 37 2 27830727 27830727 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 27830727 27830727 G A SNP ZNF512 ENST00000355467 human ensembl 74_37 +1 known missense c.952 p.E318K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 73 0 0 51 11 17.7419 HAAO 0 genome.wustl.edu 37 2 42994786 42994786 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 42994786 42994786 C T SNP HAAO ENST00000294973 human ensembl 74_37 -1 known missense c.731 p.R244Q 0.004 superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC ENSG00000162882 8 0 0 6 3 33.3333 MSH6 0 genome.wustl.edu 37 2 48025928 48025928 + Missense_Mutation SNP C C G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 48025928 48025928 C G SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.806 p.T269S 0.011 pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 411 0 0 267 29 9.7973 ETAA1 0 genome.wustl.edu 37 2 67631007 67631007 + Missense_Mutation SNP A A G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 2 67631007 67631007 A G SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.1193 p.D398G 0.021 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 190 0 0 51 32 38.5542 SLC24A3 0 genome.wustl.edu 37 20 19677542 19677542 + Silent SNP T T C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 20 19677542 19677542 T C SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known silent c.1593 p.I531 0.014 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 67 0 0 30 32 51.6129 TGM3 0 genome.wustl.edu 37 20 2312665 2312665 + Nonsense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 20 2312665 2312665 C T SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known nonsense c.1351 p.Q451* 0.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 173 0 0 90 79 46.7456 ZNF343 0 genome.wustl.edu 37 20 2464884 2464884 + Silent SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 20 2464884 2464884 G A SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known silent c.723 p.I241 0.051 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF343 HGNC ENSG00000088876 144 1 0.689655 58 57 49.5652 ID1 0 genome.wustl.edu 37 20 30193528 30193528 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 20 30193528 30193528 C T SNP ID1 ENST00000376112 human ensembl 74_37 +1 known missense c.338 p.S113F 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ID1 HGNC ENSG00000125968 28 0 0 29 8 21.6216 ARFGEF2 0 genome.wustl.edu 37 20 47587742 47587742 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 20 47587742 47587742 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1276 p.E426K 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 227 0 0 117 55 31.9767 KCNG1 0 genome.wustl.edu 37 20 49626833 49626833 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 20 49626833 49626833 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.43 p.A15T 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 87 0 0 62 47 43.1193 NCAM2 0 genome.wustl.edu 37 21 22906924 22906924 + Missense_Mutation SNP A A C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 21 22906924 22906924 A C SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2349 p.E783D 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 66 0 0 31 7 18.4211 UMODL1 0 genome.wustl.edu 37 21 43531396 43531396 + Silent SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 21 43531396 43531396 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.2064 p.P688 0.000 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 23 0 0 15 3 16.6667 BMS1P20 0 genome.wustl.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 22 22664115 22664115 A T SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors BMS1P20 HGNC ENSG00000236850 174 0 0 94 16 14.5455 ELFN2 0 genome.wustl.edu 37 22 37771510 37771510 + Missense_Mutation SNP G G C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 22 37771510 37771510 G C SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.65 p.A22G 0.166 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 23 0 0 20 9 31.0345 MAPK8IP2 0 genome.wustl.edu 37 22 51045178 51045178 + Silent SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 22 51045178 51045178 C T SNP MAPK8IP2 ENST00000329492 human ensembl 74_37 +1 known silent c.2214 p.S738 0.876 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP2 HGNC ENSG00000008735 20 0 0 14 3 17.6471 ZNF35 0 genome.wustl.edu 37 3 44700257 44700257 + Missense_Mutation SNP A A C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 3 44700257 44700257 A C SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known missense c.402 p.K134N 0.578 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 128 0 0 40 27 40.2985 GLYCTK 0 genome.wustl.edu 37 3 52327139 52327139 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 3 52327139 52327139 G A SNP GLYCTK ENST00000305690 human ensembl 74_37 +1 known missense c.1093 p.V365M 0.404 NULL NULL - no_errors GLYCTK HGNC ENSG00000168237 59 0 0 38 5 11.6279 FRYL 0 genome.wustl.edu 37 4 48611819 48611819 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 4 48611819 48611819 C T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.433 p.D145N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 29 0 0 10 4 28.5714 EVC 0 genome.wustl.edu 37 4 5754776 5754776 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 4 5754776 5754776 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1312 p.R438W 0.488 NULL NULL - no_errors EVC HGNC ENSG00000072840 24 0 0 6 6 50 TMPRSS11A 0 genome.wustl.edu 37 4 68780427 68780427 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 4 68780427 68780427 C T SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known missense c.983 p.R328Q 0.991 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 183 0 0 49 26 34.6667 STPG2 0 genome.wustl.edu 37 4 98893457 98893457 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 4 98893457 98893457 C T SNP STPG2 ENST00000295268 human ensembl 74_37 -1 known missense c.907 p.A303T 0.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 157 0 0 55 34 38.2022 PCDHB18 0 genome.wustl.edu 37 5 140615744 140615744 + RNA SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 5 140615744 140615744 G A SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.810 - - - no_errors PCDHB18 HGNC ENSG00000146001 184 0 0 108 72 40 PCDHB15 0 genome.wustl.edu 37 5 140625810 140625810 + Nonsense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 5 140625810 140625810 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known nonsense c.664 p.R222* 0.003 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 PCDHB15 HGNC ENSG00000113248 63 0 0 30 21 41.1765 TRIO 0 genome.wustl.edu 37 5 14387669 14387669 + Missense_Mutation SNP C C A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 5 14387669 14387669 C A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.3693 p.F1231L 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 257 0 0 77 25 24.5098 FNDC1 0 genome.wustl.edu 37 6 159653034 159653034 + Missense_Mutation SNP C C A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 6 159653034 159653034 C A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.1490 p.P497H 0.001 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 74 0 0 52 4 7.14286 LRFN2 0 genome.wustl.edu 37 6 40400252 40400252 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 6 40400252 40400252 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.601 p.R201C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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 122 0 0 55 51 48.1132 MDN1 0 genome.wustl.edu 37 6 90368581 90368581 + Silent SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 6 90368581 90368581 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.14769 p.E4923 0.956 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 199 0 0 94 26 21.6667 MOGAT3 0 genome.wustl.edu 37 7 100839531 100839531 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 7 100839531 100839531 G A SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known missense c.808 p.R270C 0.033 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 21 0 0 20 6 23.0769 ZC3HC1 0 genome.wustl.edu 37 7 129663367 129663367 + Missense_Mutation SNP C C G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 7 129663367 129663367 C G SNP ZC3HC1 ENST00000358303 human ensembl 74_37 -1 known missense c.1217 p.C406S 1.000 NULL pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ENSG00000091732 172 0 0 139 9 6.08108 ATP6V0E2 0 genome.wustl.edu 37 7 149576436 149576436 + Silent SNP C C G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 7 149576436 149576436 C G SNP ATP6V0E2 ENST00000421974 human ensembl 74_37 +1 known silent c.312 p.L104 0.001 NULL pfam_ATPase_V0-cplx_e1/e2_su - no_errors ATP6V0E2 HGNC ENSG00000171130 31 0 0 17 3 15 POM121L12 0 genome.wustl.edu 37 7 53103739 53103739 + Nonsense_Mutation SNP T T A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 7 53103739 53103739 T A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known nonsense c.375 p.C125* 0.009 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 112 0 0 72 17 19.1011 BUD31 0 genome.wustl.edu 37 7 99013872 99013872 + Missense_Mutation SNP C C G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 7 99013872 99013872 C G SNP BUD31 ENST00000222969 human ensembl 74_37 +1 known missense c.206 p.A69G 1.000 pfam_G10,prints_G10 pfam_G10,prints_G10 - no_errors BUD31 HGNC ENSG00000106245 201 0 0 88 18 16.9811 RIMS2 0 genome.wustl.edu 37 8 104940099 104940099 + Silent SNP T T G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 104940099 104940099 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.2226 p.P742 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 24 0 0 9 9 50 OXR1 0 genome.wustl.edu 37 8 107715309 107715309 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 107715309 107715309 C T SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.854 p.S285F 0.987 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 74 0 0 23 9 28.125 POU5F1B 0 genome.wustl.edu 37 8 128428407 128428407 + Missense_Mutation SNP C C G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 128428407 128428407 C G SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known missense c.296 p.A99G 0.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 55 0 0 135 21 13.4615 COL22A1 0 genome.wustl.edu 37 8 139697494 139697494 + Missense_Mutation SNP G G T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 139697494 139697494 G T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.2924 p.P975H 0.258 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 117 0 0 62 26 29.5455 OPLAH 0 genome.wustl.edu 37 8 145111978 145111978 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 145111978 145111978 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.1579 p.V527M 1.000 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 25 0 0 11 9 45 MSR1 0 genome.wustl.edu 37 8 15978102 15978102 + Missense_Mutation SNP T T G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 15978102 15978102 T G SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.1047 p.K349N 0.036 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 116 0 0 76 13 14.6067 SFRP1 0 genome.wustl.edu 37 8 41161050 41161050 + Silent SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 41161050 41161050 C T SNP SFRP1 ENST00000220772 human ensembl 74_37 -1 known silent c.552 p.T184 0.000 superfamily_TIMP-like_OB-fold pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 82 0 0 32 7 17.9487 ANK1 0 genome.wustl.edu 37 8 41547824 41547824 + Missense_Mutation SNP A A G TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 41547824 41547824 A G SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.4025 p.F1342S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 158 0 0 88 27 23.4783 MATN2 0 genome.wustl.edu 37 8 98973669 98973669 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 98973669 98973669 G A SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.869 p.C290Y 0.988 pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 287 0 0 160 101 38.6973 PAPPA 0 genome.wustl.edu 37 9 118950379 118950379 + Silent SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 9 118950379 118950379 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.1362 p.N454 0.749 smart_Notch_dom pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 96 0 0 70 13 15.6627 ZBTB34 0 genome.wustl.edu 37 9 129641763 129641763 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 9 129641763 129641763 C T SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known missense c.85 p.L29F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold 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 ZBTB34 HGNC ENSG00000177125 232 0 0 243 27 10 EHMT1 0 genome.wustl.edu 37 9 140728948 140728948 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 9 140728948 140728948 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.3688 p.R1230C 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 132 0 0 155 15 8.82353 NOL6 0 genome.wustl.edu 37 9 33469280 33469280 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 9 33469280 33469280 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.787 p.R263C 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 212 1 0.469484 171 35 16.9903 KIF27 0 genome.wustl.edu 37 9 86498933 86498933 + Missense_Mutation SNP C C A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 9 86498933 86498933 C A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.2240 p.G747V 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 171 0 0 74 10 11.9048 C9orf3 0 genome.wustl.edu 37 9 97718206 97718206 + Missense_Mutation SNP G G A TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 9 97718206 97718206 G A SNP C9orf3 ENST00000375315 human ensembl 74_37 +1 known missense c.1781 p.R594Q 0.999 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 219 0 0 110 21 16.0305 CTSV 0 genome.wustl.edu 37 9 99800225 99800225 + Missense_Mutation SNP G G T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 9 99800225 99800225 G T SNP CTSV ENST00000259470 human ensembl 74_37 -1 known missense c.101 p.A34E 0.538 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSV HGNC ENSG00000136943 159 0 0 107 11 9.32203 ARMCX1 0 genome.wustl.edu 37 X 100808144 100808144 + Missense_Mutation SNP G G T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa X 100808144 100808144 G T SNP ARMCX1 ENST00000372829 human ensembl 74_37 +1 known missense c.231 p.K77N 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 35 0 0 18 16 47.0588 OTUD6A 0 genome.wustl.edu 37 X 69282672 69282672 + Nonsense_Mutation SNP A A T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa X 69282672 69282672 A T SNP OTUD6A ENST00000338352 human ensembl 74_37 +1 known nonsense c.298 p.R100* 0.001 NULL pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 22 0 0 8 15 65.2174 PHKA1 0 genome.wustl.edu 37 X 71800871 71800871 + Missense_Mutation SNP C C T TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa X 71800871 71800871 C T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.3704 p.S1235N 0.997 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 25 0 0 23 9 28.125 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037835 10037835 + RNA SNP T T C TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 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 44 0 0 29 3 9.375 LOC148709 0 genome.wustl.edu 37 1 202842868 202842870 + RNA DEL ATC ATC - TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 1 202842868 202842870 ATC - DEL LOC148709 ENST00000456105 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors RP11-480I12.7 Clone_based_vega_gene ENSG00000234996 71 0 0 88 7 7.36842 VCPIP1 0 genome.wustl.edu 37 8 67547081 67547081 + Frame_Shift_Del DEL T T - TCGA-BR-7959-01A-11D-2340-08 TCGA-BR-7959-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f888475-e0fc-48d3-acf3-2aa88cf67228 b003743c-2b6c-4797-938b-63116e82b7fa 8 67547081 67547081 T - DEL VCPIP1 ENST00000310421 human ensembl 74_37 -1 known frame_shift_del c.3324 p.K1108fs 0.991 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 202 0 0 112 19 14.5038