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 SORT1 0 genome.wustl.edu 37 1 109883434 109883434 + Silent SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 109883434 109883434 T C SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known silent c.1176 p.R392 0.998 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 58 0 0 50 5 9.09091 KCND3 0 genome.wustl.edu 37 1 112524597 112524597 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 112524597 112524597 C T SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.752 p.R251H 1.000 pfam_Ion_trans_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 48 0 0 46 7 13.2075 PDE4DIP 0 genome.wustl.edu 37 1 144855852 144855852 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 144855852 144855852 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.6701 p.R2234Q 0.686 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 58 0 0 43 5 10.4167 SPRR1B 0 genome.wustl.edu 37 1 153004879 153004879 + Nonsense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 153004879 153004879 C T SNP SPRR1B ENST00000307098 human ensembl 74_37 +1 known nonsense c.58 p.Q20* 0.998 pfam_Cornifin pfam_Cornifin - no_errors SPRR1B HGNC ENSG00000169469 195 0 0 182 30 14.1509 BCAN 0 genome.wustl.edu 37 1 156617863 156617863 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 156617863 156617863 G T SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.730 p.D244Y 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 152 1 0.653595 137 15 9.86842 SPTA1 0 genome.wustl.edu 37 1 158596641 158596641 + Nonsense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 158596641 158596641 C A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known nonsense c.5821 p.E1941* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 95 0 0 102 9 8.10811 VSIG8 0 genome.wustl.edu 37 1 159828666 159828666 + Missense_Mutation SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 159828666 159828666 T C SNP VSIG8 ENST00000368100 human ensembl 74_37 -1 known missense c.86 p.Q29R 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG8 HGNC ENSG00000243284 58 0 0 51 7 12.069 ADAMTS4 0 genome.wustl.edu 37 1 161165406 161165406 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 161165406 161165406 G A SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known silent c.1110 p.L370 0.879 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 107 0 0 92 12 11.5385 STX6 0 genome.wustl.edu 37 1 180959171 180959171 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 180959171 180959171 C T SNP STX6 ENST00000258301 human ensembl 74_37 -1 known silent c.438 p.E146 1.000 NULL pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 78 0 0 74 8 9.7561 KDM5B 0 genome.wustl.edu 37 1 202733219 202733219 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 202733219 202733219 G C SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.874 p.L292V 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 47 0 0 43 4 8.51064 USH2A 0 genome.wustl.edu 37 1 215799151 215799151 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 215799151 215799151 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.15653 p.R5218H 1.000 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 78 0 0 78 13 14.2857 USH2A 0 genome.wustl.edu 37 1 215821986 215821986 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 215821986 215821986 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.14466 p.L4822 0.849 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 47 0 0 46 9 16.3636 EPHA8 0 genome.wustl.edu 37 1 22903373 22903373 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 22903373 22903373 G C SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.823 p.A275P 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 29 0 0 19 4 17.3913 OR2AK2 0 genome.wustl.edu 37 1 248129528 248129528 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 248129528 248129528 C G SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.895 p.L299V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 58 0 0 70 7 9.09091 MACF1 0 genome.wustl.edu 37 1 39753193 39753193 + Nonsense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 39753193 39753193 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.1759 p.R587* 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 156 0 0 138 23 14.2857 MACF1 0 genome.wustl.edu 37 1 39788669 39788669 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 39788669 39788669 G C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.4240 p.E1414Q 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 107 0 0 106 13 10.9244 PPT1 0 genome.wustl.edu 37 1 40558102 40558102 + Silent SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 40558102 40558102 A G SNP PPT1 ENST00000433473 human ensembl 74_37 -1 known silent c.202 p.L68 0.999 pfam_Palm_thioest,prints_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC ENSG00000131238 122 0 0 79 13 14.1304 SLFNL1 0 genome.wustl.edu 37 1 41485930 41485930 + Missense_Mutation SNP T T G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 41485930 41485930 T G SNP SLFNL1 ENST00000302946 human ensembl 74_37 -1 known missense c.403 p.S135R 0.949 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 63 0 0 56 5 8.19672 USP24 0 genome.wustl.edu 37 1 55566627 55566627 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 55566627 55566627 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.4676 p.S1559L 1.000 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 69 0 0 74 6 7.5 USP24 0 genome.wustl.edu 37 1 55567345 55567345 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 55567345 55567345 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.4577 p.S1526L 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 17 0 0 25 2 7.40741 USP24 0 genome.wustl.edu 37 1 55599811 55599811 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 55599811 55599811 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known silent c.2833 p.L945 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 18 0 0 25 5 16.6667 USP24 0 genome.wustl.edu 37 1 55599812 55599812 + Silent SNP A A T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 55599812 55599812 A T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known silent c.2832 p.L944 0.999 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 18 0 0 25 5 16.6667 USP24 0 genome.wustl.edu 37 1 55603343 55603343 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 55603343 55603343 G T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.2566 p.Q856K 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 14 0 0 14 3 17.6471 BARHL2 0 genome.wustl.edu 37 1 91182644 91182644 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 91182644 91182644 C T SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known missense c.109 p.E37K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 150 0 0 126 21 14.2857 DNMBP 0 genome.wustl.edu 37 10 101657908 101657908 + Missense_Mutation SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 10 101657908 101657908 T A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.2855 p.N952I 0.001 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 112 0 0 82 23 21.9048 NFKB2 0 genome.wustl.edu 37 10 104157099 104157099 + Missense_Mutation SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 10 104157099 104157099 A G SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known missense c.436 p.M146V 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 109 0 0 67 54 44.6281 AFAP1L2 0 genome.wustl.edu 37 10 116064682 116064682 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 10 116064682 116064682 C T SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known silent c.1239 p.L413 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 57 0 0 68 16 19.0476 SEPHS1 0 genome.wustl.edu 37 10 13361306 13361306 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 10 13361306 13361306 C G SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known missense c.1015 p.E339Q 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 351 0 0 443 55 11.0442 COMMD3 0 genome.wustl.edu 37 10 22607894 22607894 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 10 22607894 22607894 G A SNP COMMD3 ENST00000376836 human ensembl 74_37 +1 known missense c.475 p.D159N 0.991 pfam_HCaRG pfam_HCaRG - no_errors COMMD3 HGNC ENSG00000148444 82 0 0 79 7 8.13953 ABI1 0 genome.wustl.edu 37 10 27037669 27037669 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 10 27037669 27037669 C G SNP ABI1 ENST00000355394 human ensembl 74_37 -1 known missense c.1360 p.A454P 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 17 0 0 17 4 19.0476 LOC441666 0 genome.wustl.edu 37 10 42832147 42832147 + RNA SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 10 42832147 42832147 G T SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.972 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 18 0 0 17 4 19.0476 NUTM2D 0 genome.wustl.edu 37 10 89120863 89120863 + Nonsense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 10 89120863 89120863 G A SNP NUTM2D ENST00000381697 human ensembl 74_37 +1 known nonsense c.792 p.W264* 0.034 NULL NULL - no_errors NUTM2D HGNC ENSG00000214562 153 0 0 105 24 18.6047 MMP27 0 genome.wustl.edu 37 11 102573751 102573751 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 102573751 102573751 G A SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known missense c.440 p.T147I 0.947 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 121 0 0 107 14 11.5702 OR8B4 0 genome.wustl.edu 37 11 124294641 124294641 + Missense_Mutation SNP A A C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 124294641 124294641 A C SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known missense c.127 p.L43V 0.039 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 59 0 0 65 6 8.4507 ARHGAP32 0 genome.wustl.edu 37 11 128839750 128839750 + Silent SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 128839750 128839750 T C SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.5316 p.Q1772 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 100 0 0 71 8 10.1266 OPCML 0 genome.wustl.edu 37 11 132307151 132307151 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 132307151 132307151 G A SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.629 p.A210V 0.974 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 91 0 0 81 12 12.9032 LRP4 0 genome.wustl.edu 37 11 46886049 46886049 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 46886049 46886049 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.5193 p.L1731 1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 103 0 0 75 12 13.7931 KBTBD4 0 genome.wustl.edu 37 11 47594886 47594886 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 47594886 47594886 C A SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known missense c.1201 p.G401W 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 139 0 0 89 27 23.2759 OR51B6 0 genome.wustl.edu 37 11 5373170 5373170 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 5373170 5373170 G T SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.433 p.R145W 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 71 0 0 51 12 19.0476 OR4C11 0 genome.wustl.edu 37 11 55371302 55371302 + Missense_Mutation SNP A A C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 55371302 55371302 A C SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.548 p.L183W 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 84 0 0 68 6 8.10811 OR4S2 0 genome.wustl.edu 37 11 55419079 55419079 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 55419079 55419079 G T SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.700 p.A234S 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 81 0 0 74 8 9.7561 VWCE 0 genome.wustl.edu 37 11 61058812 61058812 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 61058812 61058812 G A SNP VWCE ENST00000535599 human ensembl 74_37 -1 known missense c.347 p.S116L 0.998 NULL NULL - no_errors VWCE HGNC ENSG00000167992 35 0 0 19 5 20.8333 ARHGEF17 0 genome.wustl.edu 37 11 73021058 73021058 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 73021058 73021058 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1375 p.R459W 0.935 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 51 0 0 34 11 24.4444 FAT3 0 genome.wustl.edu 37 11 92539570 92539570 + Missense_Mutation SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 92539570 92539570 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.9136 p.K3046E 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 19 0 0 9 5 35.7143 ANKRD49 0 genome.wustl.edu 37 11 94231264 94231264 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 94231264 94231264 G A SNP ANKRD49 ENST00000302755 human ensembl 74_37 +1 known missense c.286 p.E96K 0.680 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD49 HGNC ENSG00000168876 39 0 0 33 7 17.5 NAA25 0 genome.wustl.edu 37 12 112478294 112478294 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 112478294 112478294 G T SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.2529 p.F843L 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 38 0 0 37 7 15.9091 NAA25 0 genome.wustl.edu 37 12 112481431 112481431 + Nonsense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 112481431 112481431 G A SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known nonsense c.2248 p.Q750* 0.998 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 80 0 0 91 5 5.20833 ZCCHC8 0 genome.wustl.edu 37 12 122958310 122958310 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 122958310 122958310 C T SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.1858 p.E620K 0.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 131 1 0.757576 124 11 8.14815 SLCO1B3 0 genome.wustl.edu 37 12 21011427 21011427 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 21011427 21011427 C A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.281 p.P94Q 1.000 pfam_OA_transporter,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 SLCO1B3 HGNC ENSG00000111700 64 0 0 53 10 15.873 SLCO1B3 0 genome.wustl.edu 37 12 21242987 21242987 + Missense_Mutation SNP T T G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 21242987 21242987 T G SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.2194 p.L732V 0.018 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 18 0 0 15 7 31.8182 KANSL2 0 genome.wustl.edu 37 12 49047906 49047906 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 49047906 49047906 G A SNP KANSL2 ENST00000420613 human ensembl 74_37 -1 known missense c.1400 p.S467F 0.867 NULL NULL - no_errors KANSL2 HGNC ENSG00000139620 15 0 0 9 2 18.1818 KRT73 0 genome.wustl.edu 37 12 53002163 53002163 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 53002163 53002163 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known silent c.1440 p.Y480 0.907 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 32 0 0 13 15 53.5714 VWF 0 genome.wustl.edu 37 12 6120874 6120874 + Silent SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 6120874 6120874 G T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.5751 p.V1917 1.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 29 0 0 27 3 10 SRGAP1 0 genome.wustl.edu 37 12 64458981 64458981 + Silent SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 64458981 64458981 C G SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known silent c.1107 p.L369 0.997 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 33 0 0 35 10 22.2222 CHD4 0 genome.wustl.edu 37 12 6690489 6690489 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 6690489 6690489 C A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.4831 p.V1611F 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 149 0 0 104 10 8.77193 CD163L1 0 genome.wustl.edu 37 12 7531888 7531888 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 7531888 7531888 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2057 p.S686L 0.010 superfamily_Srcr_rcpt-rel pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 27 0 0 32 3 8.57143 CD163 0 genome.wustl.edu 37 12 7647956 7647956 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 7647956 7647956 G A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1141 p.R381C 0.572 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 85 0 0 63 14 18.1818 PPFIA2 0 genome.wustl.edu 37 12 81762526 81762526 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 81762526 81762526 C G SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.1460 p.R487T 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 114 0 0 125 8 6.01504 PPFIA2 0 genome.wustl.edu 37 12 81762535 81762535 + Missense_Mutation SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 12 81762535 81762535 A G SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.1451 p.L484S 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 106 0 0 122 7 5.42636 ENOX1 0 genome.wustl.edu 37 13 43987028 43987028 + Missense_Mutation SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 13 43987028 43987028 T C SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.23 p.E8G 0.937 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 61 0 0 52 8 13.3333 MYCBP2 0 genome.wustl.edu 37 13 77725076 77725076 + Silent SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 13 77725076 77725076 C A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.6924 p.V2308 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 66 0 0 50 6 10.7143 GPC5 0 genome.wustl.edu 37 13 92560227 92560227 + Silent SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 13 92560227 92560227 C A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known silent c.1317 p.A439 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 52 0 0 35 6 14.6341 HSP90AA1 0 genome.wustl.edu 37 14 102552368 102552368 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 14 102552368 102552368 C A SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.622 p.D208Y 1.000 pirsf_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 85 0 0 93 7 7 AHNAK2 0 genome.wustl.edu 37 14 105411904 105411904 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 14 105411904 105411904 G C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9884 p.S3295C 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 261 0 0 185 23 11.0577 AHNAK2 0 genome.wustl.edu 37 14 105412399 105412399 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 14 105412399 105412399 G C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9389 p.S3130C 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 262 0 0 150 10 6.25 GPHN 0 genome.wustl.edu 37 14 67431953 67431953 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 14 67431953 67431953 G C SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.874 p.D292H 1.000 NULL pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 97 0 0 66 4 5.71429 VTI1B 0 genome.wustl.edu 37 14 68118125 68118125 + Missense_Mutation SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 14 68118125 68118125 A G SNP VTI1B ENST00000554659 human ensembl 74_37 -1 known missense c.676 p.Y226H 1.000 NULL pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1B HGNC ENSG00000100568 66 0 0 51 7 12.069 ADAM20 0 genome.wustl.edu 37 14 70990515 70990515 + Silent SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 14 70990515 70990515 A G SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known silent c.1110 p.P370 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 78 0 0 50 8 13.7931 SPTLC2 0 genome.wustl.edu 37 14 78043230 78043230 + Missense_Mutation SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 14 78043230 78043230 T C SNP SPTLC2 ENST00000216484 human ensembl 74_37 -1 known missense c.511 p.I171V 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC2 HGNC ENSG00000100596 224 0 0 128 56 30.4348 PSMC1 0 genome.wustl.edu 37 14 90736591 90736591 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 14 90736591 90736591 G C SNP PSMC1 ENST00000261303 human ensembl 74_37 +1 known missense c.1083 p.K361N 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 54 0 0 32 5 13.5135 SNAP23 0 genome.wustl.edu 37 15 42823658 42823658 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 15 42823658 42823658 G A SNP SNAP23 ENST00000564153 human ensembl 74_37 +1 putative missense c.314 p.R105K 1.000 NULL smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP23 HGNC ENSG00000092531 127 0 0 93 13 12.2642 TLN2 0 genome.wustl.edu 37 15 62939637 62939637 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 15 62939637 62939637 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.128 p.T43I 0.994 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 154 0 0 133 12 8.27586 AKAP13 0 genome.wustl.edu 37 15 86287028 86287028 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 15 86287028 86287028 G C SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.8376 p.K2792N 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 41 0 0 27 5 15.625 CDIPT 0 genome.wustl.edu 37 16 29871964 29871964 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 29871964 29871964 C G SNP CDIPT ENST00000219789 human ensembl 74_37 -1 known missense c.352 p.E118Q 0.997 pirsf_CDP_diag_ino_3_P_euk pfam_CDP-OH_P_trans,pirsf_CDP_diag_ino_3_P_euk - no_errors CDIPT HGNC ENSG00000103502 27 0 0 36 4 10 HERC2P4 0 genome.wustl.edu 37 16 32191963 32191963 + RNA SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 32191963 32191963 T A SNP HERC2P4 ENST00000566591 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors HERC2P4 HGNC ENSG00000230267 12 0 0 7 3 30 MEFV 0 genome.wustl.edu 37 16 3293246 3293246 + Silent SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 3293246 3293246 A G SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.2241 p.S747 0.005 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 84 0 0 58 10 14.7059 ZNF75A 0 genome.wustl.edu 37 16 3367641 3367641 + Nonsense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 3367641 3367641 G A SNP ZNF75A ENST00000574298 human ensembl 74_37 +1 known nonsense c.663 p.W221* 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 ZNF75A HGNC ENSG00000162086 55 0 0 36 8 18.1818 RANBP10 0 genome.wustl.edu 37 16 67762443 67762443 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 67762443 67762443 G T SNP RANBP10 ENST00000411657 human ensembl 74_37 -1 known missense c.1063 p.P355T 0.004 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 60 0 0 45 8 15.0943 SF3B3 0 genome.wustl.edu 37 16 70578362 70578362 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 70578362 70578362 G A SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.1255 p.D419N 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 107 0 0 132 13 8.96552 PMFBP1 0 genome.wustl.edu 37 16 72158686 72158686 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 72158686 72158686 G T SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known missense c.2584 p.L862I 0.987 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 81 0 0 82 12 12.766 PMM2 0 genome.wustl.edu 37 16 8941596 8941596 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 8941596 8941596 G C SNP PMM2 ENST00000268261 human ensembl 74_37 +1 known missense c.655 p.E219Q 1.000 pfam_PMM,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM2 HGNC ENSG00000140650 85 0 0 83 23 21.6981 VPS9D1 0 genome.wustl.edu 37 16 89779059 89779059 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 89779059 89779059 C T SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.497 p.R166Q 0.995 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 58 0 0 71 5 6.57895 USP7 0 genome.wustl.edu 37 16 8987952 8987952 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 8987952 8987952 G A SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.3212 p.S1071F 1.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 90 0 0 131 23 14.9351 USP7 0 genome.wustl.edu 37 16 9009127 9009127 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 9009127 9009127 G C SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.1062 p.I354M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 63 0 0 75 18 19.3548 USP7 0 genome.wustl.edu 37 16 9017104 9017104 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 16 9017104 9017104 G T SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.351 p.F117L 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 139 0 0 151 31 17.033 RAI1 0 genome.wustl.edu 37 17 17696366 17696366 + Missense_Mutation SNP A A T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 17 17696366 17696366 A T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.104 p.Q35L 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 44 0 0 42 6 12.5 CYB5D2 0 genome.wustl.edu 37 17 4058071 4058071 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 17 4058071 4058071 G A SNP CYB5D2 ENST00000301391 human ensembl 74_37 +1 known silent c.495 p.Q165 0.000 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors CYB5D2 HGNC ENSG00000167740 40 0 0 26 17 39.5349 CACNA1G 0 genome.wustl.edu 37 17 48676957 48676957 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 17 48676957 48676957 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.3427 p.E1143K 0.999 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 14 0 0 12 3 20 CAMTA2 0 genome.wustl.edu 37 17 4875791 4875791 + Silent SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 17 4875791 4875791 G T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.2613 p.G871 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 15 0 0 9 5 35.7143 HELZ 0 genome.wustl.edu 37 17 65147323 65147323 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 17 65147323 65147323 C T SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.2195 p.R732H 1.000 superfamily_P-loop_NTPase pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 78 0 0 68 23 25.2747 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 22 0 0 11 7 38.8889 ZNF521 0 genome.wustl.edu 37 18 22806993 22806993 + Missense_Mutation SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 18 22806993 22806993 T A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.889 p.M297L 0.283 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 68 0 0 48 5 9.43396 NOL4 0 genome.wustl.edu 37 18 31537439 31537439 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 18 31537439 31537439 C T SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.1279 p.V427I 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 29 0 0 24 4 14.2857 CETN1 0 genome.wustl.edu 37 18 580813 580813 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 18 580813 580813 G A SNP CETN1 ENST00000327228 human ensembl 74_37 +1 known silent c.405 p.E135 0.993 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN1 HGNC ENSG00000177143 63 0 0 63 12 16 PTPRM 0 genome.wustl.edu 37 18 8394510 8394510 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 18 8394510 8394510 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known silent c.4248 p.I1416 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 41 0 0 32 7 17.9487 DNMT1 0 genome.wustl.edu 37 19 10270586 10270586 + Missense_Mutation SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 10270586 10270586 T C SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.1102 p.K368E 0.243 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 193 0 0 79 43 35.2459 ZNF492 0 genome.wustl.edu 37 19 22847879 22847879 + Missense_Mutation SNP A A T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 22847879 22847879 A T SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.1408 p.I470F 0.201 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 95 0 0 54 10 15.625 ZNF599 0 genome.wustl.edu 37 19 35251301 35251301 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 35251301 35251301 C G SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.405 p.L135F 0.081 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 ZNF599 HGNC ENSG00000153896 129 0 0 160 12 6.97674 LSR 0 genome.wustl.edu 37 19 35741220 35741220 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 35741220 35741220 C T SNP LSR ENST00000361790 human ensembl 74_37 +1 known missense c.256 p.P86S 0.102 pfscan_Ig-like_dom pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 418 1 0.238663 485 39 7.44275 TMEM147 0 genome.wustl.edu 37 19 36037609 36037609 + Silent SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 36037609 36037609 G T SNP TMEM147 ENST00000222284 human ensembl 74_37 +1 known silent c.243 p.L81 0.992 pfam_DUF2053_membrane pfam_DUF2053_membrane - no_errors TMEM147 HGNC ENSG00000105677 111 0 0 127 15 10.5634 ERF 0 genome.wustl.edu 37 19 42753761 42753761 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 42753761 42753761 G A SNP ERF ENST00000222329 human ensembl 74_37 -1 known missense c.503 p.S168F 0.474 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 71 0 0 96 8 7.69231 MEGF8 0 genome.wustl.edu 37 19 42860252 42860252 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 42860252 42860252 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.4410 p.I1470 1.000 smart_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 16 0 0 13 4 23.5294 PLAUR 0 genome.wustl.edu 37 19 44174251 44174251 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 44174251 44174251 G A SNP PLAUR ENST00000340093 human ensembl 74_37 -1 known missense c.22 p.P8S 0.113 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PLAUR HGNC ENSG00000011422 70 0 0 76 7 8.43373 SMG9 0 genome.wustl.edu 37 19 44242339 44242339 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 44242339 44242339 G C SNP SMG9 ENST00000270066 human ensembl 74_37 -1 known missense c.844 p.L282V 1.000 pfam_Smg8/Smg9,superfamily_P-loop_NTPase pfam_Smg8/Smg9,superfamily_P-loop_NTPase - no_errors SMG9 HGNC ENSG00000105771 92 0 0 120 7 5.51181 ZNF225 0 genome.wustl.edu 37 19 44635941 44635941 + Nonsense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 44635941 44635941 C T SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known nonsense c.1174 p.R392* 0.007 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 ZNF225 HGNC ENSG00000256294 77 0 0 104 11 9.56522 ZNF229 0 genome.wustl.edu 37 19 44933034 44933034 + Nonsense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 44933034 44933034 G C SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known nonsense c.1922 p.S641* 0.004 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 ZNF229 HGNC ENSG00000167383 97 0 0 119 13 9.84848 SULT2A1 0 genome.wustl.edu 37 19 48374741 48374741 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 48374741 48374741 G A SNP SULT2A1 ENST00000222002 human ensembl 74_37 -1 known missense c.829 p.L277F 0.019 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT2A1 HGNC ENSG00000105398 84 0 0 97 15 13.3929 ZNF841 0 genome.wustl.edu 37 19 52569233 52569233 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 52569233 52569233 G A SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known silent c.1902 p.F634 0.003 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 ZNF841 HGNC ENSG00000197608 117 0 0 172 16 8.51064 VN1R4 0 genome.wustl.edu 37 19 53770092 53770092 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 53770092 53770092 C A SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known missense c.827 p.C276F 0.043 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 68 0 0 74 8 9.7561 PRKCG 0 genome.wustl.edu 37 19 54403920 54403920 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 54403920 54403920 G A SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.1492 p.D498N 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_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 307 0 0 391 39 9.06977 NLRP7 0 genome.wustl.edu 37 19 55449557 55449557 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 55449557 55449557 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.2068 p.R690C 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 79 0 0 114 7 5.78512 DUXA 0 genome.wustl.edu 37 19 57666681 57666681 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 57666681 57666681 C T SNP DUXA ENST00000554048 human ensembl 74_37 -1 known silent c.498 p.A166 0.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors DUXA HGNC ENSG00000258873 45 0 0 46 5 9.80392 MUC16 0 genome.wustl.edu 37 19 9061107 9061107 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 19 9061107 9061107 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.26339 p.T8780K 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 84 0 0 60 15 20 AFF3 0 genome.wustl.edu 37 2 100360598 100360598 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 100360598 100360598 G C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.1082 p.S361C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 54 0 0 76 4 5 SLC9A2 0 genome.wustl.edu 37 2 103318933 103318933 + Nonsense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 103318933 103318933 C G SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known nonsense c.1817 p.S606* 1.000 prints_Na/H_exchanger_2,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 75 0 0 45 7 13.4615 TTC21B 0 genome.wustl.edu 37 2 166770142 166770142 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 166770142 166770142 C G SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.2153 p.R718T 0.993 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 64 0 0 61 7 10.2941 SCRN3 0 genome.wustl.edu 37 2 175269040 175269040 + Missense_Mutation SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 175269040 175269040 A G SNP SCRN3 ENST00000272732 human ensembl 74_37 +1 known missense c.751 p.K251E 1.000 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN3 HGNC ENSG00000144306 36 0 0 29 3 9.375 TTN 0 genome.wustl.edu 37 2 179647145 179647145 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 179647145 179647145 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3174 p.E1058D 0.498 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 39 0 0 38 5 11.6279 NIF3L1 0 genome.wustl.edu 37 2 201768269 201768269 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 201768269 201768269 C T SNP NIF3L1 ENST00000409020 human ensembl 74_37 +1 known silent c.1002 p.V334 0.998 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC ENSG00000196290 117 0 0 96 16 14.2857 NIF3L1 0 genome.wustl.edu 37 2 201768371 201768371 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 201768371 201768371 G C SNP NIF3L1 ENST00000409020 human ensembl 74_37 +1 known missense c.1104 p.E368D 0.568 superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC ENSG00000196290 68 0 0 62 5 7.46269 NIF3L1 0 genome.wustl.edu 37 2 201768375 201768375 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 201768375 201768375 G T SNP NIF3L1 ENST00000409020 human ensembl 74_37 +1 known missense c.1108 p.D370Y 1.000 superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC ENSG00000196290 67 0 0 60 5 7.69231 STRADB 0 genome.wustl.edu 37 2 202340424 202340424 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 202340424 202340424 G A SNP STRADB ENST00000194530 human ensembl 74_37 +1 known silent c.507 p.V169 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADB HGNC ENSG00000082146 192 0 0 147 23 13.5294 AGAP1 0 genome.wustl.edu 37 2 236839529 236839529 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 236839529 236839529 G C SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1445 p.S482T 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 52 0 0 35 9 20.4545 SLC4A1AP 0 genome.wustl.edu 37 2 27887235 27887235 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 27887235 27887235 G A SNP SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known missense c.616 p.V206M 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 30 0 0 35 7 16.6667 TRMT61B 0 genome.wustl.edu 37 2 29093101 29093101 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 29093101 29093101 G C SNP TRMT61B ENST00000306108 human ensembl 74_37 -1 known missense c.43 p.R15G 0.000 NULL pfam_tRNA_MeTrfase_GCD14,pfam_PCMT - no_errors TRMT61B HGNC ENSG00000171103 25 0 0 17 2 10.5263 CLIP4 0 genome.wustl.edu 37 2 29379298 29379298 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 29379298 29379298 C T SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.1244 p.T415I 0.056 NULL pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 45 0 0 43 4 8.51064 GPR75-ASB3 0 genome.wustl.edu 37 2 53992553 53992553 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 53992553 53992553 G A SNP GPR75-ASB3 ENST00000352846 human ensembl 74_37 -1 known missense c.271 p.H91Y 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors GPR75-ASB3 HGNC ENSG00000115239 188 0 0 161 30 15.7068 SIRPA 0 genome.wustl.edu 37 20 1918035 1918035 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 20 1918035 1918035 G A SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.1348 p.E450K 0.587 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 72 0 0 63 5 7.35294 RALGAPA2 0 genome.wustl.edu 37 20 20621418 20621418 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 20 20621418 20621418 G A SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known silent c.477 p.F159 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 47 0 0 45 6 11.7647 FAM182B 0 genome.wustl.edu 37 20 25848660 25848660 + RNA SNP T T G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 20 25848660 25848660 T G SNP FAM182B ENST00000424021 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors FAM182B HGNC ENSG00000175170 11 0 0 12 4 25 TPX2 0 genome.wustl.edu 37 20 30363673 30363673 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 20 30363673 30363673 G T SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.612 p.Q204H 0.993 NULL pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 27 0 0 29 3 9.375 BPIFB6 0 genome.wustl.edu 37 20 31627211 31627211 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 20 31627211 31627211 C T SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.959 p.P320L 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 94 0 0 81 8 8.98876 CHD6 0 genome.wustl.edu 37 20 40122221 40122221 + Missense_Mutation SNP T T G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 20 40122221 40122221 T G SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.1271 p.K424T 1.000 pfam_Chromo_domain,superfamily_P-loop_NTPase,smart_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 111 0 0 91 17 15.7407 SLC13A3 0 genome.wustl.edu 37 20 45242254 45242254 + Silent SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 20 45242254 45242254 G T SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known silent c.222 p.G74 0.272 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 13 0 0 25 3 10.7143 TRMT6 0 genome.wustl.edu 37 20 5924624 5924624 + Missense_Mutation SNP A A T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 20 5924624 5924624 A T SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known missense c.512 p.M171K 1.000 pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 34 0 0 36 12 25 TMPRSS15 0 genome.wustl.edu 37 21 19642429 19642429 + Nonsense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 21 19642429 19642429 C A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known nonsense c.2917 p.G973* 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 157 0 0 119 29 19.5946 NCAM2 0 genome.wustl.edu 37 21 22746243 22746243 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 21 22746243 22746243 G C SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.1105 p.D369H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 88 0 0 59 11 15.7143 GGA1 0 genome.wustl.edu 37 22 38021940 38021940 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 22 38021940 38021940 C G SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known missense c.1077 p.D359E 0.996 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 93 0 0 56 6 9.67742 FAM83F 0 genome.wustl.edu 37 22 40417545 40417545 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 22 40417545 40417545 C T SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known missense c.1031 p.A344V 0.990 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 30 0 0 15 6 28.5714 POLQ 0 genome.wustl.edu 37 3 121251880 121251880 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 121251880 121251880 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.917 p.S306L 1.000 superfamily_P-loop_NTPase pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 68 0 0 60 6 9.09091 MRPL3 0 genome.wustl.edu 37 3 131220467 131220467 + Missense_Mutation SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 131220467 131220467 T A SNP MRPL3 ENST00000264995 human ensembl 74_37 -1 known missense c.185 p.K62M 0.995 superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type - no_errors MRPL3 HGNC ENSG00000114686 247 0 0 179 31 14.7619 P2RY12 0 genome.wustl.edu 37 3 151056202 151056202 + Silent SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 151056202 151056202 G C SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known silent c.432 p.L144 0.963 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 79 0 0 108 6 5.26316 VEPH1 0 genome.wustl.edu 37 3 157188178 157188178 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 157188178 157188178 G C SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.279 p.N93K 0.996 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 71 0 0 50 10 16.6667 SLC7A14 0 genome.wustl.edu 37 3 170201172 170201172 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 170201172 170201172 C A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1046 p.S349I 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 99 0 0 94 10 9.61538 NKTR 0 genome.wustl.edu 37 3 42662965 42662965 + Missense_Mutation SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 42662965 42662965 A G SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.331 p.M111V 1.000 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 NKTR HGNC ENSG00000114857 41 0 0 37 2 5.12821 HTR1F 0 genome.wustl.edu 37 3 88040875 88040875 + Nonsense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 88040875 88040875 G T SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known nonsense c.976 p.E326* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 33 0 0 26 4 13.3333 EPHA6 0 genome.wustl.edu 37 3 96706657 96706657 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 96706657 96706657 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.934 p.P312S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 183 0 0 179 26 12.6829 OR5K3 0 genome.wustl.edu 37 3 98110025 98110025 + Missense_Mutation SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 3 98110025 98110025 T A SNP OR5K3 ENST00000383695 human ensembl 74_37 +1 known missense c.516 p.H172Q 0.044 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 OR5K3 HGNC ENSG00000206536 82 0 0 68 23 25.2747 PRMT10 0 genome.wustl.edu 37 4 148575442 148575442 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 4 148575442 148575442 C A SNP PRMT10 ENST00000322396 human ensembl 74_37 -1 known missense c.1606 p.G536C 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 97 0 0 61 19 23.75 EXOC1 0 genome.wustl.edu 37 4 56755095 56755095 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 4 56755095 56755095 G C SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.1372 p.E458Q 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 65 0 0 49 10 16.9492 PDLIM5 0 genome.wustl.edu 37 4 95578606 95578606 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 4 95578606 95578606 G C SNP PDLIM5 ENST00000317968 human ensembl 74_37 +1 known missense c.1493 p.W498S 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 44 0 0 48 5 9.43396 MCC 0 genome.wustl.edu 37 5 112379318 112379318 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 112379318 112379318 C G SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.2095 p.D699H 0.775 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 44 0 0 36 3 7.69231 CLPTM1L 0 genome.wustl.edu 37 5 1324909 1324909 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 1324909 1324909 G A SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known missense c.1166 p.S389F 0.973 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 110 1 0.900901 192 11 5.41872 FCHSD1 0 genome.wustl.edu 37 5 141019969 141019969 + RNA SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 141019969 141019969 T C SNP FCHSD1 ENST00000523856 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors FCHSD1 HGNC ENSG00000197948 91 0 0 41 17 29.3103 GABRG2 0 genome.wustl.edu 37 5 161569308 161569308 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 161569308 161569308 C A SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.908 p.A303D 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 66 0 0 48 14 22.5806 C5orf45 0 genome.wustl.edu 37 5 179264517 179264517 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 179264517 179264517 C A SNP C5orf45 ENST00000292586 human ensembl 74_37 -1 known missense c.906 p.K302N 0.001 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 132 0 0 79 26 24.7619 BTNL8 0 genome.wustl.edu 37 5 180377062 180377062 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 180377062 180377062 C T SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known missense c.1021 p.H341Y 0.901 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 60 0 0 41 32 43.8356 GNB2L1 0 genome.wustl.edu 37 5 180664713 180664713 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 180664713 180664713 C G SNP GNB2L1 ENST00000512805 human ensembl 74_37 -1 known missense c.784 p.E262Q 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GNB2L1 HGNC ENSG00000204628 82 0 0 67 11 14.1026 PLEKHG4B 0 genome.wustl.edu 37 5 182371 182371 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 182371 182371 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.3749 p.T1250M 0.020 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 29 0 0 20 14 41.1765 PDE8B 0 genome.wustl.edu 37 5 76621533 76621533 + Missense_Mutation SNP T T G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 76621533 76621533 T G SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.569 p.F190C 1.000 pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 58 0 0 43 11 20.3704 RASGRF2 0 genome.wustl.edu 37 5 80419490 80419490 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 5 80419490 80419490 G A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.2500 p.A834T 0.849 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 65 0 0 37 5 11.9048 RFX6 0 genome.wustl.edu 37 6 117246699 117246699 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 6 117246699 117246699 G A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.1762 p.A588T 0.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 92 0 0 71 4 5.33333 TMEM200A 0 genome.wustl.edu 37 6 130761934 130761934 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 6 130761934 130761934 G A SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.367 p.D123N 0.999 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 64 0 0 47 7 12.963 EYA4 0 genome.wustl.edu 37 6 133833864 133833864 + Missense_Mutation SNP T T G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 6 133833864 133833864 T G SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.1287 p.C429W 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 140 0 0 90 17 15.8879 C6orf118 0 genome.wustl.edu 37 6 165712986 165712986 + Silent SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 6 165712986 165712986 T C SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known silent c.882 p.E294 1.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 36 0 0 15 3 16.6667 TCP10L2 0 genome.wustl.edu 37 6 167585758 167585758 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 6 167585758 167585758 C T SNP TCP10L2 ENST00000283507 human ensembl 74_37 +1 known silent c.126 p.S42 0.000 NULL NULL - no_errors TCP10L2 HGNC ENSG00000166984 57 0 0 41 5 10.8696 TDRD6 0 genome.wustl.edu 37 6 46658843 46658843 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 6 46658843 46658843 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.2978 p.T993M 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 39 0 0 26 6 18.75 PKHD1 0 genome.wustl.edu 37 6 51907859 51907859 + Silent SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 6 51907859 51907859 T A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.2895 p.T965 0.008 pfam_IPT,superfamily_Ig_E-set pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 78 0 0 45 7 13.4615 KMT2E 0 genome.wustl.edu 37 7 104742409 104742409 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 104742409 104742409 C G SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.1964 p.S655C 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 72 0 0 60 8 11.7647 ANKRD7 0 genome.wustl.edu 37 7 117876182 117876182 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 117876182 117876182 G T SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known missense c.616 p.A206S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 83 0 0 81 7 7.95455 CPA2 0 genome.wustl.edu 37 7 129919480 129919480 + Missense_Mutation SNP A A C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 129919480 129919480 A C SNP CPA2 ENST00000222481 human ensembl 74_37 +1 known missense c.965 p.K322T 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA2 HGNC ENSG00000158516 53 0 0 46 16 25.8065 HTR5A 0 genome.wustl.edu 37 7 154863188 154863188 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 154863188 154863188 G T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known missense c.579 p.Q193H 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 39 0 0 30 7 18.9189 VIPR2 0 genome.wustl.edu 37 7 158824743 158824743 + Silent SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 158824743 158824743 G T SNP VIPR2 ENST00000262178 human ensembl 74_37 -1 known silent c.987 p.S329 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 41 0 0 44 7 13.7255 AGR2 0 genome.wustl.edu 37 7 16841346 16841346 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 16841346 16841346 G A SNP AGR2 ENST00000419572 human ensembl 74_37 -1 known silent c.135 p.V45 0.996 NULL superfamily_Thioredoxin-like_fold - no_errors AGR2 HGNC ENSG00000106541 76 0 0 108 12 10 ABCB5 0 genome.wustl.edu 37 7 20793071 20793071 + Missense_Mutation SNP A A C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 20793071 20793071 A C SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.2183 p.K728T 0.988 pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 60 0 0 59 7 10.6061 SNX8 0 genome.wustl.edu 37 7 2317745 2317745 + Missense_Mutation SNP A A C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 2317745 2317745 A C SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known missense c.290 p.V97G 0.999 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 97 0 0 103 16 13.4454 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 48 0 0 51 5 8.92857 C7orf26 0 genome.wustl.edu 37 7 6629948 6629948 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 6629948 6629948 G A SNP C7orf26 ENST00000344417 human ensembl 74_37 +1 known missense c.34 p.D12N 1.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 22 0 0 16 3 15.7895 SAMD9 0 genome.wustl.edu 37 7 92733964 92733964 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 92733964 92733964 G C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.1447 p.L483V 0.993 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 71 0 0 58 6 9.375 NPTX2 0 genome.wustl.edu 37 7 98256591 98256591 + Missense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 7 98256591 98256591 G T SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.1003 p.G335W 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 59 0 0 50 9 15.2542 ZFPM2 0 genome.wustl.edu 37 8 106815454 106815454 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 8 106815454 106815454 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.3144 p.L1048 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 22 0 0 24 6 20 TRPS1 0 genome.wustl.edu 37 8 116599425 116599425 + Nonsense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 8 116599425 116599425 C A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known nonsense c.2503 p.E835* 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 92 0 0 70 55 44 BMP1 0 genome.wustl.edu 37 8 22051982 22051982 + Missense_Mutation SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 8 22051982 22051982 A G SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known missense c.1322 p.K441R 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 53 0 0 44 3 6.38298 SOX17 0 genome.wustl.edu 37 8 55371726 55371726 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 8 55371726 55371726 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.416 p.P139L 1.000 superfamily_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 33 0 0 20 8 28.5714 PREX2 0 genome.wustl.edu 37 8 69012077 69012077 + Missense_Mutation SNP A A C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 8 69012077 69012077 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2714 p.K905T 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 38 0 0 57 8 12.3077 KIAA0368 0 genome.wustl.edu 37 9 114135651 114135651 + Missense_Mutation SNP C C A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 9 114135651 114135651 C A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.4747 p.D1583Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 113 0 0 84 14 14.2857 C9orf84 0 genome.wustl.edu 37 9 114464486 114464486 + Silent SNP A A G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 9 114464486 114464486 A G SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known silent c.2796 p.Y932 0.984 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 36 0 0 22 4 15.3846 DFNB31 0 genome.wustl.edu 37 9 117266506 117266506 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 9 117266506 117266506 G A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known silent c.576 p.N192 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 111 0 0 87 23 20.9091 OR1Q1 0 genome.wustl.edu 37 9 125377550 125377550 + Missense_Mutation SNP C C G TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 9 125377550 125377550 C G SNP OR1Q1 ENST00000297913 human ensembl 74_37 +1 known missense c.534 p.F178L 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 117 0 0 77 12 13.4831 MLLT3 0 genome.wustl.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 9 20414379 20414379 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.465 p.S155 0.991 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 20 0 0 6 3 33.3333 KIAA2026 0 genome.wustl.edu 37 9 5922408 5922408 + Missense_Mutation SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 9 5922408 5922408 T A SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.3588 p.L1196F 0.604 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 76 0 0 48 13 21.3115 TRPM6 0 genome.wustl.edu 37 9 77415356 77415356 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 9 77415356 77415356 G C SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.2052 p.F684L 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 67 0 0 56 9 13.8462 VPS13A 0 genome.wustl.edu 37 9 79933226 79933226 + Nonsense_Mutation SNP G G T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 9 79933226 79933226 G T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known nonsense c.5032 p.E1678* 0.702 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 54 0 0 42 11 20.7547 PAK3 0 genome.wustl.edu 37 X 110435772 110435772 + Missense_Mutation SNP G G C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 110435772 110435772 G C SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known missense c.1026 p.K342N 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_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 57 0 0 36 3 7.69231 ARHGAP36 0 genome.wustl.edu 37 X 130218985 130218985 + Missense_Mutation SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 130218985 130218985 T A SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.902 p.M301K 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 ARHGAP36 HGNC ENSG00000147256 161 0 0 130 29 18.239 TFDP3 0 genome.wustl.edu 37 X 132351694 132351694 + Silent SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 132351694 132351694 C T SNP TFDP3 ENST00000310125 human ensembl 74_37 -1 known silent c.594 p.Q198 0.999 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP3 HGNC ENSG00000183434 65 0 0 48 7 12.7273 FMR1 0 genome.wustl.edu 37 X 147024689 147024689 + Silent SNP T T C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 147024689 147024689 T C SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known silent c.1314 p.D438 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 163 0 0 119 26 17.931 PASD1 0 genome.wustl.edu 37 X 150828296 150828296 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 150828296 150828296 C T SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.829 p.P277S 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 83 0 0 54 43 44.3299 L1CAM 0 genome.wustl.edu 37 X 153137610 153137610 + Missense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 153137610 153137610 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.403 p.E135K 0.999 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 51 0 0 39 5 11.3636 NHS 0 genome.wustl.edu 37 X 17750507 17750507 + Nonsense_Mutation SNP C C T TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 17750507 17750507 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known nonsense c.4816 p.Q1606* 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 104 0 0 78 20 20.4082 MAGEE1 0 genome.wustl.edu 37 X 75650042 75650042 + Missense_Mutation SNP A A C TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 75650042 75650042 A C SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1719 p.E573D 0.153 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 16 0 0 8 4 33.3333 P2RY10 0 genome.wustl.edu 37 X 78216055 78216055 + Missense_Mutation SNP T T A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 78216055 78216055 T A SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.38 p.M13K 0.996 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 78 0 0 65 18 21.6867 POU3F4 0 genome.wustl.edu 37 X 82764197 82764197 + Missense_Mutation SNP G G A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 X 82764197 82764197 G A SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.865 p.V289I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 30 0 0 25 12 32.4324 BCL10 0 genome.wustl.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 1 85736511 85736511 T - DEL BCL10 ENST00000370580 human ensembl 74_37 -1 known frame_shift_del c.136 p.I46fs 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 77 0 0 71 6 7.79221 AMBRA1 0 genome.wustl.edu 37 11 46568608 46568609 + RNA INS - - A TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 11 46568608 46568609 - A INS AMBRA1 ENST00000524783 human ensembl 74_37 -1 known rna NULL NULL 0.032:0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 24 0 0 19 5 20.8333 ZFP36L2 0 genome.wustl.edu 37 2 43452520 43452522 + In_Frame_Del DEL CTG CTG - TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 2 43452520 43452522 CTG - DEL ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known in_frame_del c.423_421 p.Q141in_frame_del 1.000:1.000:1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 36 0 0 25 2 7.40741 OTUD4 0 genome.wustl.edu 37 4 146071793 146071793 + Frame_Shift_Del DEL T T - TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 4 146071793 146071793 T - DEL OTUD4 ENST00000447906 human ensembl 74_37 -1 known frame_shift_del c.1131 p.P378fs 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 85 0 0 44 26 37.1429 MAP3K7 0 genome.wustl.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-BR-7716-01A-21D-2053-08 TCGA-BR-7716-10A-01D-2053-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27905ee2-3613-4023-b996-6fd0640a9e24 e489d5ac-5dca-4378-8c94-e65dbd5ef207 6 91296568 91296570 GAG - DEL MAP3K7 ENST00000369329 human ensembl 74_37 -1 known in_frame_del c.35_33 p.S14in_frame_del 1.000:1.000:1.000 pirsf_MAPKKK7,superfamily_Kinase-like_dom pirsf_MAPKKK7,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 33 0 0 42 3 6.66667