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 KIF1B 0 genome.wustl.edu 37 1 10363932 10363932 + Nonsense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 10363932 10363932 G T SNP KIF1B ENST00000377083 human ensembl 74_37 +1 known nonsense c.2689 p.E897* 0.923 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 52 0 0 39 3 7.14286 SDF4 0 genome.wustl.edu 37 1 1153081 1153081 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 1153081 1153081 G A SNP SDF4 ENST00000263741 human ensembl 74_37 -1 known missense c.1016 p.P339L 0.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 103 0 0 39 5 11.3636 CERS2 0 genome.wustl.edu 37 1 150940919 150940919 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 150940919 150940919 G A SNP CERS2 ENST00000271688 human ensembl 74_37 -1 known silent c.243 p.N81 0.999 superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeobox_dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS2 HGNC ENSG00000143418 48 0 0 33 10 23.2558 IQGAP3 0 genome.wustl.edu 37 1 156524092 156524092 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 156524092 156524092 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known silent c.1383 p.G461 0.878 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 63 0 0 76 7 8.43373 SPTA1 0 genome.wustl.edu 37 1 158595998 158595998 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 158595998 158595998 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5848 p.S1950R 0.837 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 41 0 0 34 11 24.4444 SPTA1 0 genome.wustl.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 158606546 158606546 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5195 p.K1732T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 118 0 0 98 31 24.031 LMX1A 0 genome.wustl.edu 37 1 165182992 165182992 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 165182992 165182992 A G SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known silent c.555 p.T185 0.000 superfamily_Homeodomain-like pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 196 0 0 159 9 5.35714 ASPM 0 genome.wustl.edu 37 1 197111713 197111713 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 197111713 197111713 T A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.1669 p.S557C 0.000 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 65 0 0 92 9 8.91089 PTPRC 0 genome.wustl.edu 37 1 198711490 198711490 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 198711490 198711490 A C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2691 p.Q897H 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 76 0 0 80 6 6.97674 MYBPH 0 genome.wustl.edu 37 1 203144565 203144565 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 203144565 203144565 A G SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known missense c.230 p.L77P 0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 101 0 0 98 6 5.76923 ESRRG 0 genome.wustl.edu 37 1 216692701 216692701 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 216692701 216692701 A C SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.925 p.L309V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 41 0 0 36 5 12.1951 ZP4 0 genome.wustl.edu 37 1 238048098 238048098 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 238048098 238048098 G T SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.1361 p.S454Y 0.799 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 14 0 0 19 3 13.6364 LPHN2 0 genome.wustl.edu 37 1 82421583 82421583 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 82421583 82421583 A T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.1844 p.N615I 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 76 0 0 88 10 10.2041 PKN2 0 genome.wustl.edu 37 1 89273385 89273385 + Nonsense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 1 89273385 89273385 A T SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known nonsense c.2029 p.K677* 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_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 78 0 0 81 6 6.89655 CPN1 0 genome.wustl.edu 37 10 101824989 101824989 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 10 101824989 101824989 G A SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.715 p.R239C 0.684 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 107 0 0 83 7 7.77778 CUBN 0 genome.wustl.edu 37 10 16918918 16918918 + Missense_Mutation SNP G G C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 10 16918918 16918918 G C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9084 p.F3028L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 62 0 0 68 11 13.9241 MYO3A 0 genome.wustl.edu 37 10 26463375 26463375 + Nonsense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 10 26463375 26463375 T A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known nonsense c.4182 p.Y1394* 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 105 0 0 116 11 8.66142 STOX1 0 genome.wustl.edu 37 10 70644504 70644504 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 10 70644504 70644504 C T SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.952 p.R318C 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 93 0 0 115 7 5.7377 SORBS1 0 genome.wustl.edu 37 10 97141493 97141493 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 10 97141493 97141493 G A SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known silent c.969 p.S323 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 88 0 0 71 13 15.4762 PGR 0 genome.wustl.edu 37 11 100999184 100999184 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 100999184 100999184 G A SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.618 p.S206 0.373 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 32 0 0 18 6 25 DSCAML1 0 genome.wustl.edu 37 11 117310022 117310022 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 117310022 117310022 A G SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.4284 p.T1428 0.131 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 79 0 0 58 5 7.93651 OR10G7 0 genome.wustl.edu 37 11 123908818 123908818 + Silent SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 123908818 123908818 A C SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known silent c.891 p.A297 0.975 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 49 0 0 36 9 20 BTBD10 0 genome.wustl.edu 37 11 13441177 13441177 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 13441177 13441177 A C SNP BTBD10 ENST00000278174 human ensembl 74_37 -1 known missense c.414 p.S138R 1.000 NULL superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC ENSG00000148925 197 0 0 209 17 7.52212 TRAF6 0 genome.wustl.edu 37 11 36512115 36512115 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 36512115 36512115 C T SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known missense c.842 p.S281N 0.044 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 111 0 0 106 14 11.6667 HSD17B12 0 genome.wustl.edu 37 11 43876699 43876699 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 43876699 43876699 G A SNP HSD17B12 ENST00000278353 human ensembl 74_37 +1 known silent c.840 p.S280 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 54 0 0 81 11 11.9565 OR51D1 0 genome.wustl.edu 37 11 4661157 4661157 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 4661157 4661157 T G SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known missense c.137 p.F46C 0.043 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 63 0 0 76 6 7.31707 OR4P4 0 genome.wustl.edu 37 11 55405859 55405859 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 55405859 55405859 T C SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.26 p.L9S 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 120 0 0 114 12 9.52381 OR8U1 0 genome.wustl.edu 37 11 56143498 56143498 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 56143498 56143498 G T SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.399 p.M133I 0.000 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 OR8U1 HGNC ENSG00000172199 123 1 0.806452 114 7 5.78512 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5624861 5624861 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 5624861 5624861 T C SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.403 p.F135L 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 96 0 0 52 5 8.77193 OR52N1 0 genome.wustl.edu 37 11 5809592 5809592 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 5809592 5809592 A G SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.455 p.L152P 0.011 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 OR52N1 HGNC ENSG00000181001 67 0 0 48 4 7.69231 PCNXL3 0 genome.wustl.edu 37 11 65387008 65387008 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 65387008 65387008 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.1706 p.A569V 0.798 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 29 0 0 15 5 25 OR2AG2 0 genome.wustl.edu 37 11 6789842 6789842 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 6789842 6789842 G A SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known missense c.347 p.A116V 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 65 0 0 43 8 15.6863 SYT9 0 genome.wustl.edu 37 11 7439317 7439317 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 7439317 7439317 T C SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known missense c.1295 p.I432T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 79 0 0 60 8 11.7647 LRRC32 0 genome.wustl.edu 37 11 76371306 76371306 + Missense_Mutation SNP G G C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 76371306 76371306 G C SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1331 p.S444C 0.984 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 18 0 0 25 4 13.7931 CCDC89 0 genome.wustl.edu 37 11 85396349 85396349 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 11 85396349 85396349 C A SNP CCDC89 ENST00000316398 human ensembl 74_37 -1 known missense c.825 p.L275F 1.000 NULL NULL - no_errors CCDC89 HGNC ENSG00000179071 92 0 0 92 6 6.12245 TAS2R43 0 genome.wustl.edu 37 12 11244194 11244194 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 11244194 11244194 T C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known missense c.635 p.H212R 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 15 0 0 22 4 15.3846 OAS1 0 genome.wustl.edu 37 12 113346553 113346553 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 113346553 113346553 G A SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known silent c.393 p.A131 0.657 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 80 0 0 56 11 16.4179 TMEM132D 0 genome.wustl.edu 37 12 130184611 130184611 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 130184611 130184611 C A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.712 p.D238Y 0.979 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 67 0 0 55 5 8.33333 SP1 0 genome.wustl.edu 37 12 53777235 53777235 + Missense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 53777235 53777235 C G SNP SP1 ENST00000327443 human ensembl 74_37 +1 known missense c.1504 p.L502V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 97 0 0 83 6 6.74157 CAND1 0 genome.wustl.edu 37 12 67700348 67700348 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 67700348 67700348 T G SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.2900 p.L967R 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 56 0 0 49 9 15.5172 CD163 0 genome.wustl.edu 37 12 7639263 7639263 + Nonsense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 7639263 7639263 C A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known nonsense c.2290 p.E764* 0.110 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 205 0 0 143 22 13.3333 OTOGL 0 genome.wustl.edu 37 12 80733021 80733021 + Nonsense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 80733021 80733021 C G SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known nonsense c.5000 p.S1667* 0.371 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 211 0 0 165 19 10.3261 MYF6 0 genome.wustl.edu 37 12 81101535 81101535 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 81101535 81101535 T G SNP MYF6 ENST00000228641 human ensembl 74_37 +1 known missense c.37 p.F13V 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 80 0 0 61 8 11.5942 A2ML1 0 genome.wustl.edu 37 12 9004550 9004550 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 12 9004550 9004550 G A SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.2405 p.R802H 1.000 pfam_Macroglobln_a2,pfam_SV_autoAg pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 153 0 0 114 11 8.8 NALCN 0 genome.wustl.edu 37 13 101717784 101717784 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 13 101717784 101717784 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4576 p.G1526S 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 117 0 0 60 26 30.2326 NALCN 0 genome.wustl.edu 37 13 101747941 101747941 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 13 101747941 101747941 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.3253 p.W1085R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 33 0 0 47 19 28.7879 GAS6 0 genome.wustl.edu 37 13 114535746 114535746 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 13 114535746 114535746 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.943 p.R315C 0.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 73 0 0 40 3 6.97674 SPERT 0 genome.wustl.edu 37 13 46287451 46287451 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 13 46287451 46287451 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known silent c.291 p.S97 0.002 NULL NULL - no_errors SPERT HGNC ENSG00000174015 114 0 0 73 4 5.19481 POU4F1 0 genome.wustl.edu 37 13 79175862 79175862 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 13 79175862 79175862 C T SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.948 p.T316 0.997 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 34 0 0 16 3 15.7895 ECRP 0 genome.wustl.edu 37 14 21388364 21388364 + RNA SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 14 21388364 21388364 G A SNP ECRP ENST00000555624 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-84C10.2 Clone_based_vega_gene ENSG00000136315 68 0 0 54 7 11.4754 SOS2 0 genome.wustl.edu 37 14 50666574 50666574 + Splice_Site SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 14 50666574 50666574 C T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known splice_site c.346-1 e4-1 1.000 - - - no_errors SOS2 HGNC ENSG00000100485 70 0 0 65 18 21.6867 ACOT4 0 genome.wustl.edu 37 14 74060458 74060458 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 14 74060458 74060458 C T SNP ACOT4 ENST00000326303 human ensembl 74_37 +1 known silent c.510 p.L170 0.157 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT4 HGNC ENSG00000177465 64 0 0 47 31 39.7436 FLRT2 0 genome.wustl.edu 37 14 86089626 86089626 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 14 86089626 86089626 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1768 p.E590K 1.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 148 0 0 109 21 16.1538 UNC79 0 genome.wustl.edu 37 14 94088470 94088470 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 14 94088470 94088470 T G SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.4957 p.S1653A 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 92 0 0 73 17 18.8889 SERPINA5 0 genome.wustl.edu 37 14 95058443 95058443 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 14 95058443 95058443 C T SNP SERPINA5 ENST00000329597 human ensembl 74_37 +1 known missense c.1088 p.A363V 0.376 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA5 HGNC ENSG00000188488 324 0 0 223 12 5.10638 MKRN3 0 genome.wustl.edu 37 15 23811873 23811873 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 15 23811873 23811873 T C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.944 p.M315T 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 44 0 0 36 16 30.7692 BAHD1 0 genome.wustl.edu 37 15 40754422 40754422 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 15 40754422 40754422 C T SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.1744 p.R582C 0.170 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 153 0 0 98 9 8.41121 PKM 0 genome.wustl.edu 37 15 72511293 72511293 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 15 72511293 72511293 C T SNP PKM ENST00000319622 human ensembl 74_37 -1 known missense c.146 p.C49Y 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 26 0 0 19 3 13.6364 BBS4 0 genome.wustl.edu 37 15 73023934 73023934 + Silent SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 15 73023934 73023934 C G SNP BBS4 ENST00000395205 human ensembl 74_37 +1 known silent c.927 p.P309 0.443 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors BBS4 HGNC ENSG00000140463 98 0 0 90 27 23.0769 ACAN 0 genome.wustl.edu 37 15 89398570 89398570 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 15 89398570 89398570 A G SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.2754 p.L918 0.003 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 45 0 0 32 3 8.57143 HAPLN3 0 genome.wustl.edu 37 15 89421211 89421211 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 15 89421211 89421211 C T SNP HAPLN3 ENST00000359595 human ensembl 74_37 -1 known missense c.1073 p.R358H 0.145 superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 43 0 0 21 6 22.2222 NOMO1 0 genome.wustl.edu 37 16 14946401 14946401 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 14946401 14946401 G A SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.697 p.V233M 1.000 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 20 0 0 17 6 26.087 TRAF7 0 genome.wustl.edu 37 16 2223996 2223996 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 2223996 2223996 G A SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known missense c.1210 p.V404I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 160 0 0 103 24 18.8976 SULT1A2 0 genome.wustl.edu 37 16 28606764 28606764 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 28606764 28606764 G T SNP SULT1A2 ENST00000335715 human ensembl 74_37 -1 known missense c.296 p.T99K 0.014 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 82 0 0 73 14 16.092 KIF22 0 genome.wustl.edu 37 16 29810471 29810471 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 29810471 29810471 G A SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.725 p.R242H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 30 0 0 26 19 42.2222 ENSG00000259966 0 genome.wustl.edu 37 16 32616275 32616275 + RNA SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 32616275 32616275 C G SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 24 0 0 39 3 7.14286 SALL1 0 genome.wustl.edu 37 16 51173596 51173596 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 51173596 51173596 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2537 p.A846V 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 121 0 0 105 25 19.2308 IRX6 0 genome.wustl.edu 37 16 55363013 55363013 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 55363013 55363013 A C SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1123 p.S375R 0.968 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 70 0 0 61 6 8.95522 KARS 0 genome.wustl.edu 37 16 75665710 75665710 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 75665710 75665710 C T SNP KARS ENST00000319410 human ensembl 74_37 -1 known missense c.1043 p.R348H 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II - no_errors KARS HGNC ENSG00000065427 182 0 0 118 8 6.34921 CNTNAP4 0 genome.wustl.edu 37 16 76569647 76569647 + Silent SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 16 76569647 76569647 T G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.2958 p.T986 0.034 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 30 0 0 19 4 17.3913 MYH1 0 genome.wustl.edu 37 17 10399568 10399568 + Missense_Mutation SNP G G C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 17 10399568 10399568 G C SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.4955 p.A1652G 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 114 0 0 107 7 6.14035 SMG6 0 genome.wustl.edu 37 17 2202841 2202841 + Silent SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 17 2202841 2202841 C A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known silent c.1206 p.R402 0.996 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 61 0 0 73 7 8.75 SSH2 0 genome.wustl.edu 37 17 27999110 27999110 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 17 27999110 27999110 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.571 p.A191T 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 58 0 0 52 5 8.77193 THRA 0 genome.wustl.edu 37 17 38244651 38244651 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 17 38244651 38244651 G A SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.880 p.V294I 0.951 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 109 0 0 98 7 6.66667 C17orf104 0 genome.wustl.edu 37 17 42744530 42744530 + Silent SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 17 42744530 42744530 C A SNP C17orf104 ENST00000409122 human ensembl 74_37 +1 known silent c.1251 p.G417 1.000 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 89 0 0 85 6 6.59341 RECQL5 0 genome.wustl.edu 37 17 73627585 73627585 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 17 73627585 73627585 C A SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.1393 p.G465C 0.930 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 72 0 0 62 4 6.06061 TP53 0 genome.wustl.edu 37 17 7573994 7573994 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 17 7573994 7573994 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.1033 p.N345D 0.995 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 12 0 0 14 8 36.3636 DSG3 0 genome.wustl.edu 37 18 29038417 29038417 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 29038417 29038417 G A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.226 p.D76N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 68 0 0 64 5 7.24638 DSG3 0 genome.wustl.edu 37 18 29038422 29038422 + Nonsense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 29038422 29038422 C A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known nonsense c.231 p.Y77* 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 70 0 0 64 7 9.85915 CCDC178 0 genome.wustl.edu 37 18 30847187 30847187 + Silent SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 30847187 30847187 T A SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known silent c.1251 p.A417 0.001 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 45 0 0 73 9 10.9756 ASXL3 0 genome.wustl.edu 37 18 31324793 31324793 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 31324793 31324793 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.4981 p.V1661I 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 49 0 0 49 11 18.3333 COLEC12 0 genome.wustl.edu 37 18 321787 321787 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 321787 321787 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.2084 p.P695L 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 139 0 0 130 32 19.7531 DLGAP1 0 genome.wustl.edu 37 18 3879582 3879582 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 3879582 3879582 C T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.487 p.V163I 0.993 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 129 0 0 99 11 10 SYT4 0 genome.wustl.edu 37 18 40851770 40851770 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 40851770 40851770 T C SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.877 p.I293V 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 95 0 0 92 5 5.15464 MBD1 0 genome.wustl.edu 37 18 47800630 47800630 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 47800630 47800630 C T SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.1225 p.D409N 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 75 0 0 60 4 6.25 CDH7 0 genome.wustl.edu 37 18 63511174 63511174 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 63511174 63511174 G T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1108 p.D370Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 94 0 0 85 8 8.60215 CDH7 0 genome.wustl.edu 37 18 63547907 63547907 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 18 63547907 63547907 G T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.2135 p.W712L 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 95 0 0 131 8 5.7554 LOC100289333 0 genome.wustl.edu 37 19 12318169 12318169 + RNA SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 12318169 12318169 T C SNP LOC100289333 ENST00000415793 human ensembl 74_37 +1 known rna NULL NULL 0.566 - - - no_errors CTD-2666L21.1 Clone_based_vega_gene ENSG00000234773 86 0 0 82 7 7.86517 MEF2B 0 genome.wustl.edu 37 19 19258640 19258640 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 19258640 19258640 G A SNP MEF2B ENST00000162023 human ensembl 74_37 -1 known missense c.260 p.T87M 1.000 superfamily_TF_MADSbox pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 35 0 0 25 3 10.7143 ZNF208 0 genome.wustl.edu 37 19 22155381 22155381 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 22155381 22155381 T A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2455 p.T819S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 67 0 0 89 11 11 NPHS1 0 genome.wustl.edu 37 19 36330422 36330422 + Missense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 36330422 36330422 C G SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.2903 p.G968A 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 97 0 0 72 14 16.2791 HKR1 0 genome.wustl.edu 37 19 37853775 37853775 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 37853775 37853775 A G SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known missense c.1078 p.K360E 0.027 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 HKR1 HGNC ENSG00000181666 107 0 0 87 17 16.3462 DAPK3 0 genome.wustl.edu 37 19 3969700 3969700 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 3969700 3969700 G A SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known missense c.34 p.H12Y 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 58 0 0 48 5 9.43396 CARD8 0 genome.wustl.edu 37 19 48733886 48733886 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 48733886 48733886 C A SNP CARD8 ENST00000391898 human ensembl 74_37 -1 known missense c.844 p.A282S 0.055 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 140 0 0 113 22 16.2963 PTOV1 0 genome.wustl.edu 37 19 50360274 50360274 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 50360274 50360274 C T SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known missense c.601 p.R201C 1.000 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 176 0 0 125 13 9.42029 ZNF534 0 genome.wustl.edu 37 19 52937331 52937331 + Missense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 52937331 52937331 C G SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known missense c.139 p.L47V 0.829 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF534 HGNC ENSG00000198633 82 0 0 67 12 15.1899 NLRP7 0 genome.wustl.edu 37 19 55449462 55449462 + Silent SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 55449462 55449462 C A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.2163 p.R721 0.764 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 286 0 0 233 26 10.0386 USP29 0 genome.wustl.edu 37 19 57641627 57641627 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 57641627 57641627 A G SNP USP29 ENST00000254181 human ensembl 74_37 +1 known silent c.1584 p.Q528 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 144 0 0 153 19 11.0465 ZNF814 0 genome.wustl.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 58385546 58385546 G T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1212 p.D404E 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 20 0 0 15 3 16.6667 ZNF135 0 genome.wustl.edu 37 19 58578607 58578607 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 58578607 58578607 G A SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.827 p.R276Q 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF135 HGNC ENSG00000176293 137 1 0.724638 100 23 18.6992 A1BG 0 genome.wustl.edu 37 19 58862776 58862776 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 58862776 58862776 G A SNP A1BG ENST00000263100 human ensembl 74_37 -1 known silent c.891 p.V297 0.002 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors A1BG HGNC ENSG00000121410 115 0 0 92 9 8.91089 DPP10 0 genome.wustl.edu 37 2 116503686 116503686 + Nonsense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 116503686 116503686 A T SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known nonsense c.889 p.K297* 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 29 0 0 47 5 9.61538 LRP1B 0 genome.wustl.edu 37 2 140995737 140995737 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 140995737 140995737 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13544 p.M4515R 0.991 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 76 0 0 90 9 9.09091 LRP1B 0 genome.wustl.edu 37 2 141093238 141093238 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 141093238 141093238 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12062 p.L4021P 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 73 0 0 103 8 7.20721 SCN3A 0 genome.wustl.edu 37 2 166003271 166003271 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 166003271 166003271 T C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.1649 p.K550R 0.962 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 102 0 0 110 16 12.6984 HOXD10 0 genome.wustl.edu 37 2 176981726 176981726 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 176981726 176981726 G A SNP HOXD10 ENST00000249501 human ensembl 74_37 +1 known silent c.165 p.P55 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 74 0 0 113 8 6.61157 TTN 0 genome.wustl.edu 37 2 179424681 179424681 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 179424681 179424681 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.78474 p.K26158N 0.992 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 70 0 0 77 6 7.22892 TTN 0 genome.wustl.edu 37 2 179439187 179439187 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 179439187 179439187 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63968 p.L21323P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 314 0 0 344 25 6.77507 TTN 0 genome.wustl.edu 37 2 179600580 179600580 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 179600580 179600580 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10861 p.Y3621H 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-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 48 0 0 63 11 14.8649 ZDBF2 0 genome.wustl.edu 37 2 207172843 207172843 + Silent SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 207172843 207172843 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.3591 p.S1197 0.999 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 56 0 0 57 7 10.9375 ALK 0 genome.wustl.edu 37 2 29416759 29416759 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 29416759 29416759 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known silent c.4194 p.P1398 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 59 0 0 40 5 11.1111 SLC1A4 0 genome.wustl.edu 37 2 65217089 65217089 + Silent SNP G G C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 65217089 65217089 G C SNP SLC1A4 ENST00000234256 human ensembl 74_37 +1 known silent c.312 p.S104 0.992 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC ENSG00000115902 9 0 0 5 4 44.4444 PCBP1 0 genome.wustl.edu 37 2 70315122 70315122 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 2 70315122 70315122 A T SNP PCBP1 ENST00000303577 human ensembl 74_37 +1 known missense c.247 p.I83F 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP1 HGNC ENSG00000169564 139 0 0 115 10 8 DNMT3B 0 genome.wustl.edu 37 20 31387101 31387101 + Nonsense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 20 31387101 31387101 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known nonsense c.1726 p.R576* 0.995 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 24 0 0 19 3 13.6364 E2F1 0 genome.wustl.edu 37 20 32268147 32268147 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 20 32268147 32268147 G A SNP E2F1 ENST00000343380 human ensembl 74_37 -1 known missense c.337 p.R113C 1.000 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 26 0 0 29 2 6.45161 DLGAP4 0 genome.wustl.edu 37 20 35125434 35125434 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 20 35125434 35125434 G T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1975 p.A659S 0.876 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 42 0 0 41 4 8.88889 ZHX3 0 genome.wustl.edu 37 20 39830759 39830759 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 20 39830759 39830759 C T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.2798 p.R933H 0.080 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 86 0 0 89 14 13.5922 BCAS1 0 genome.wustl.edu 37 20 52674669 52674669 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 20 52674669 52674669 C A SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known missense c.97 p.V33F 0.000 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 20 0 0 27 5 15.625 PROKR2 0 genome.wustl.edu 37 20 5294674 5294674 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 20 5294674 5294674 G A SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known silent c.342 p.Y114 0.886 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_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 69 0 0 51 7 12.069 EVA1C 0 genome.wustl.edu 37 21 33887131 33887131 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 21 33887131 33887131 G A SNP EVA1C ENST00000300255 human ensembl 74_37 +1 known silent c.957 p.P319 0.015 NULL pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom - no_errors EVA1C HGNC ENSG00000166979 54 0 0 44 3 6.38298 SUMO3 0 genome.wustl.edu 37 21 46233836 46233836 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 21 46233836 46233836 C A SNP SUMO3 ENST00000411651 human ensembl 74_37 -1 known missense c.205 p.V69F 0.000 NULL pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors SUMO3 HGNC ENSG00000184900 33 0 0 33 3 8.33333 BMS1P20 0 genome.wustl.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 22 22664606 22664606 A G SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors BMS1P20 HGNC ENSG00000236850 16 0 0 24 3 11.1111 MYH9 0 genome.wustl.edu 37 22 36696948 36696948 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 22 36696948 36696948 C A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.2787 p.E929D 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 109 0 0 76 10 11.6279 NAGA 0 genome.wustl.edu 37 22 42458989 42458989 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 22 42458989 42458989 G A SNP NAGA ENST00000396398 human ensembl 74_37 -1 known missense c.799 p.R267W 0.223 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors NAGA HGNC ENSG00000198951 44 0 0 35 4 10.2564 AMOTL2 0 genome.wustl.edu 37 3 134080535 134080535 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 134080535 134080535 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.1394 p.A465V 0.995 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 32 0 0 24 4 14.2857 ATR 0 genome.wustl.edu 37 3 142254976 142254976 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 142254976 142254976 T G SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.3793 p.K1265Q 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 50 0 0 58 4 6.45161 OXNAD1 0 genome.wustl.edu 37 3 16336421 16336421 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 16336421 16336421 C A SNP OXNAD1 ENST00000544043 human ensembl 74_37 +1 known missense c.403 p.P135T 1.000 superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 97 0 0 88 5 5.37634 PLD1 0 genome.wustl.edu 37 3 171330103 171330103 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 171330103 171330103 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.2848 p.R950W 0.006 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 68 0 0 49 5 9.25926 SCN5A 0 genome.wustl.edu 37 3 38591931 38591931 + Missense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 38591931 38591931 C G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5932 p.D1978H 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 58 0 0 30 3 9.09091 DAG1 0 genome.wustl.edu 37 3 49568587 49568587 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 49568587 49568587 C T SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.643 p.R215W 0.991 superfamily_Alpha-dystroglycan_domain_2 pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 57 0 0 45 5 10 LRTM1 0 genome.wustl.edu 37 3 54958847 54958847 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 54958847 54958847 T C SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.403 p.S135G 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 54 0 0 56 12 17.6471 FLNB 0 genome.wustl.edu 37 3 58109299 58109299 + Nonsense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 58109299 58109299 C G SNP FLNB ENST00000295956 human ensembl 74_37 +1 known nonsense c.3606 p.Y1202* 0.998 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 69 0 0 60 7 10.4478 OR5H14 0 genome.wustl.edu 37 3 97868494 97868494 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 3 97868494 97868494 A G SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.265 p.S89G 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 212 0 0 219 34 13.4387 NDNF 0 genome.wustl.edu 37 4 121961132 121961132 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 121961132 121961132 T A SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.266 p.K89M 1.000 NULL pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 57 0 0 41 4 8.88889 EDNRA 0 genome.wustl.edu 37 4 148407147 148407147 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 148407147 148407147 T G SNP EDNRA ENST00000324300 human ensembl 74_37 +1 known missense c.314 p.I105S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 125 0 0 124 17 12.0567 DCHS2 0 genome.wustl.edu 37 4 155254538 155254538 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 155254538 155254538 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1325 p.E442G 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 82 0 0 37 5 11.9048 GLRB 0 genome.wustl.edu 37 4 158041808 158041808 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 158041808 158041808 T G SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.223 p.F75V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 67 0 0 35 4 10.2564 RAPGEF2 0 genome.wustl.edu 37 4 160251157 160251157 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 160251157 160251157 A T SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.814 p.I272F 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 77 0 0 89 7 7.29167 WDR17 0 genome.wustl.edu 37 4 177052829 177052829 + Missense_Mutation SNP G G C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 177052829 177052829 G C SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1110 p.L370F 1.000 superfamily_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 WDR17 HGNC ENSG00000150627 204 0 0 178 17 8.71795 AGA 0 genome.wustl.edu 37 4 178355641 178355641 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 178355641 178355641 C T SNP AGA ENST00000264595 human ensembl 74_37 -1 known missense c.701 p.R234H 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 82 0 0 61 9 12.8571 ING2 0 genome.wustl.edu 37 4 184431507 184431507 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 184431507 184431507 T C SNP ING2 ENST00000302327 human ensembl 74_37 +1 known missense c.245 p.L82P 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING2 HGNC ENSG00000168556 161 0 0 119 8 6.29921 SLIT2 0 genome.wustl.edu 37 4 20493407 20493407 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 20493407 20493407 T G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.799 p.S267A 0.996 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 102 0 0 81 5 5.81395 PCDH7 0 genome.wustl.edu 37 4 30724803 30724803 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 30724803 30724803 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1759 p.D587N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 43 0 0 35 7 16.6667 LOC401127 0 genome.wustl.edu 37 4 39483039 39483039 + RNA SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 39483039 39483039 G A SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 50 0 0 47 8 14.5455 ABCA11P 0 genome.wustl.edu 37 4 419995 419995 + RNA SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 419995 419995 C G SNP ABCA11P ENST00000451020 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ABCA11P HGNC ENSG00000251595 21 0 0 21 3 12.5 GRXCR1 0 genome.wustl.edu 37 4 42895621 42895621 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 42895621 42895621 T C SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.338 p.V113A 1.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 125 0 0 115 12 9.44882 TMPRSS11A 0 genome.wustl.edu 37 4 68795684 68795684 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 68795684 68795684 C A SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known missense c.404 p.R135I 0.010 pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 65 0 0 65 4 5.7971 TADA2B 0 genome.wustl.edu 37 4 7056285 7056285 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 7056285 7056285 G A SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.767 p.R256H 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 59 0 0 43 4 8.51064 CXCL9 0 genome.wustl.edu 37 4 76925962 76925962 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 76925962 76925962 C A SNP CXCL9 ENST00000264888 human ensembl 74_37 -1 known missense c.276 p.Q92H 1.000 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL9 HGNC ENSG00000138755 56 0 0 49 7 12.5 GAK 0 genome.wustl.edu 37 4 861053 861053 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 861053 861053 C T SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.2563 p.G855R 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 132 0 0 77 10 11.4943 GRID2 0 genome.wustl.edu 37 4 94137982 94137982 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 4 94137982 94137982 A C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.883 p.S295R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 131 0 0 110 16 12.6984 SLCO4C1 0 genome.wustl.edu 37 5 101593707 101593707 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 101593707 101593707 A C SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.1213 p.L405V 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 44 0 0 59 5 7.8125 CTNND2 0 genome.wustl.edu 37 5 11022936 11022936 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 11022936 11022936 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.2944 p.R982W 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 71 0 0 50 9 15.2542 CAMK4 0 genome.wustl.edu 37 5 110712565 110712565 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 110712565 110712565 T G SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known missense c.311 p.L104R 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 CAMK4 HGNC ENSG00000152495 90 0 0 83 14 14.433 CEP120 0 genome.wustl.edu 37 5 122751739 122751739 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 122751739 122751739 C A SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.286 p.V96F 1.000 pfam_DUF3668,superfamily_C2_dom pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 25 0 0 28 2 6.66667 MATR3 0 genome.wustl.edu 37 5 138658622 138658622 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 138658622 138658622 G A SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known missense c.2114 p.S705N 0.140 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 39 0 0 51 6 10.5263 PSD2 0 genome.wustl.edu 37 5 139189337 139189337 + Silent SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 139189337 139189337 G T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known silent c.312 p.L104 0.838 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 117 0 0 82 9 9.89011 PCDHA13 0 genome.wustl.edu 37 5 140263637 140263637 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 140263637 140263637 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1784 p.R595H 0.203 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 133 0 0 97 14 12.6126 PCDHB3 0 genome.wustl.edu 37 5 140480968 140480968 + Silent SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 140480968 140480968 G T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.735 p.P245 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 72 0 0 77 8 9.41176 PCDHB16 0 genome.wustl.edu 37 5 140563160 140563160 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 140563160 140563160 C A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1026 p.D342E 0.904 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 82 0 0 70 4 5.40541 PCDHB11 0 genome.wustl.edu 37 5 140579789 140579789 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 140579789 140579789 G A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.442 p.V148I 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 163 0 0 132 20 13.1579 JAKMIP2 0 genome.wustl.edu 37 5 147016608 147016608 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 147016608 147016608 G T SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1534 p.Q512K 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 126 0 0 106 10 8.62069 PLEKHG4B 0 genome.wustl.edu 37 5 156286 156286 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 156286 156286 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.1241 p.A414V 0.990 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 53 0 0 37 7 15.9091 RANBP17 0 genome.wustl.edu 37 5 170722912 170722912 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 170722912 170722912 A C SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.3064 p.S1022R 0.382 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 80 0 0 61 5 7.57576 UGT3A1 0 genome.wustl.edu 37 5 35965825 35965825 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 35965825 35965825 G T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.506 p.T169K 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 81 0 0 66 5 7.04225 ADCY2 0 genome.wustl.edu 37 5 7789859 7789859 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 7789859 7789859 C T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.2574 p.N858 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 45 0 0 43 9 17.3077 ADCY2 0 genome.wustl.edu 37 5 7820795 7820795 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 7820795 7820795 A G SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.3116 p.K1039R 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 46 0 0 49 7 12.5 JMY 0 genome.wustl.edu 37 5 78533384 78533384 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 78533384 78533384 T A SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.911 p.I304N 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 84 0 0 95 7 6.86275 VCAN 0 genome.wustl.edu 37 5 82836238 82836238 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 82836238 82836238 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.7416 p.P2472 0.013 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 89 0 0 73 8 9.87654 HAPLN1 0 genome.wustl.edu 37 5 82937440 82937440 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 5 82937440 82937440 C T SNP HAPLN1 ENST00000274341 human ensembl 74_37 -1 known missense c.940 p.V314I 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 141 0 0 131 8 5.7554 BEND3 0 genome.wustl.edu 37 6 107390253 107390253 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 6 107390253 107390253 C T SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.2142 p.P714 0.978 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 115 0 0 62 5 7.46269 LAMA2 0 genome.wustl.edu 37 6 129823886 129823886 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 6 129823886 129823886 T C SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.8327 p.I2776T 0.998 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 31 0 0 40 3 6.97674 ULBP1 0 genome.wustl.edu 37 6 150290418 150290418 + Missense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 6 150290418 150290418 C G SNP ULBP1 ENST00000229708 human ensembl 74_37 +1 known missense c.547 p.Q183E 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 111 0 0 93 6 6.06061 PLG 0 genome.wustl.edu 37 6 161143543 161143543 + Silent SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 6 161143543 161143543 T C SNP PLG ENST00000308192 human ensembl 74_37 +1 known silent c.1200 p.S400 0.995 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 118 0 0 98 16 14.0351 BTN1A1 0 genome.wustl.edu 37 6 26508948 26508948 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 6 26508948 26508948 G T SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.1127 p.R376M 0.879 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 158 0 0 117 13 10 HLA-G 0 genome.wustl.edu 37 6 29795657 29795657 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 6 29795657 29795657 G A SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known silent c.51 p.L17 0.015 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-G HGNC ENSG00000204632 52 0 0 29 2 6.45161 RARS2 0 genome.wustl.edu 37 6 88224725 88224725 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 6 88224725 88224725 C T SNP RARS2 ENST00000369536 human ensembl 74_37 -1 known missense c.1600 p.V534M 0.963 pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 68 0 0 59 6 9.23077 ACHE 0 genome.wustl.edu 37 7 100491202 100491202 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 100491202 100491202 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.652 p.V218M 0.606 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 77 0 0 61 12 16.4384 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 102760123 102760123 A G SNP NAPEPLD ENST00000455523 human ensembl 74_37 -1 known missense c.1061 p.F354S 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 96 0 0 65 6 8.4507 AGK 0 genome.wustl.edu 37 7 141336807 141336807 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 141336807 141336807 G A SNP AGK ENST00000355413 human ensembl 74_37 +1 known missense c.716 p.S239N 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 29 0 0 22 6 21.4286 FOXK1 0 genome.wustl.edu 37 7 4800738 4800738 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 4800738 4800738 G A SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known silent c.1740 p.A580 0.004 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 125 0 0 84 9 9.67742 ZPBP 0 genome.wustl.edu 37 7 50057879 50057879 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 50057879 50057879 C A SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.740 p.R247L 0.998 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 48 0 0 49 6 10.9091 RNF216 0 genome.wustl.edu 37 7 5780920 5780920 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 5780920 5780920 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.728 p.R243H 0.000 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 96 0 0 105 6 5.40541 EIF2AK1 0 genome.wustl.edu 37 7 6082613 6082613 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 6082613 6082613 C T SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known missense c.742 p.A248T 0.002 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 EIF2AK1 HGNC ENSG00000086232 32 0 0 34 5 12.8205 VKORC1L1 0 genome.wustl.edu 37 7 65419336 65419336 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 65419336 65419336 T G SNP VKORC1L1 ENST00000434382 human ensembl 74_37 +1 novel missense c.470 p.F157C 1.000 NULL pfam_VKOR - no_errors VKORC1L1 HGNC ENSG00000196715 13 0 0 15 4 21.0526 ZNF12 0 genome.wustl.edu 37 7 6731622 6731622 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 6731622 6731622 T G SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known missense c.951 p.R317S 0.168 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 ZNF12 HGNC ENSG00000164631 67 0 0 57 9 13.6364 NPTX2 0 genome.wustl.edu 37 7 98257796 98257796 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 98257796 98257796 G A SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.1151 p.R384H 0.003 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 15 0 0 13 3 18.75 RGS22 0 genome.wustl.edu 37 8 100999827 100999827 + Silent SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 100999827 100999827 G T SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known silent c.3039 p.I1013 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 34 0 0 43 4 8.51064 DCAF13 0 genome.wustl.edu 37 8 104427572 104427572 + Silent SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 104427572 104427572 T C SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known silent c.354 p.T118 0.984 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 77 0 0 52 15 22.3881 DPYS 0 genome.wustl.edu 37 8 105393408 105393408 + RNA SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 105393408 105393408 T A SNP DPYS ENST00000521372 human ensembl 74_37 -1 putative rna NULL NULL 0.965 - - - no_errors DPYS HGNC ENSG00000147647 46 0 0 45 7 13.4615 CSMD3 0 genome.wustl.edu 37 8 113421186 113421186 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 113421186 113421186 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5471 p.Q1824R 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 145 0 0 146 10 6.41026 CSMD3 0 genome.wustl.edu 37 8 113599416 113599416 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 113599416 113599416 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.3764 p.P1255L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 83 0 0 128 7 5.18519 NOV 0 genome.wustl.edu 37 8 120429131 120429131 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 120429131 120429131 C T SNP NOV ENST00000259526 human ensembl 74_37 +1 known silent c.232 p.L78 0.000 pfam_IGFBP-like,smart_IGFBP-like,pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors NOV HGNC ENSG00000136999 31 0 0 29 3 9.375 CSMD1 0 genome.wustl.edu 37 8 2832041 2832041 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 2832041 2832041 A T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8675 p.L2892H 0.978 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 21 0 0 15 4 21.0526 CPA6 0 genome.wustl.edu 37 8 68419089 68419089 + Missense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 68419089 68419089 C G SNP CPA6 ENST00000297770 human ensembl 74_37 -1 known missense c.569 p.W190S 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 51 0 0 59 13 18.0556 PREX2 0 genome.wustl.edu 37 8 68995528 68995528 + Silent SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 68995528 68995528 T A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.1932 p.V644 1.000 superfamily_PDZ,smart_PDZ 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 48 0 0 81 6 6.89655 C8orf34 0 genome.wustl.edu 37 8 69445301 69445301 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 69445301 69445301 A G SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.1022 p.D341G 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 97 0 0 116 8 6.45161 CRISPLD1 0 genome.wustl.edu 37 8 75937820 75937820 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 75937820 75937820 T A SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.1284 p.H428Q 0.991 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 41 0 0 73 5 6.41026 IL7 0 genome.wustl.edu 37 8 79650848 79650848 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 8 79650848 79650848 G T SNP IL7 ENST00000263851 human ensembl 74_37 -1 known missense c.251 p.A84D 1.000 pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7 pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7 - no_errors IL7 HGNC ENSG00000104432 50 0 0 66 6 8.33333 OR13F1 0 genome.wustl.edu 37 9 107267259 107267259 + Nonsense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 9 107267259 107267259 C A SNP OR13F1 ENST00000334726 human ensembl 74_37 +1 known nonsense c.716 p.S239* 1.000 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 OR13F1 HGNC ENSG00000186881 136 0 0 112 13 10.4 DBH 0 genome.wustl.edu 37 9 136507403 136507403 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 9 136507403 136507403 C T SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.561 p.G187 0.010 smart_DOMON_domain pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 48 0 0 32 5 13.5135 PPP1R26 0 genome.wustl.edu 37 9 138378506 138378506 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 9 138378506 138378506 C T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.2150 p.A717V 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 15 0 0 20 3 13.0435 ABCA2 0 genome.wustl.edu 37 9 139911417 139911417 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 9 139911417 139911417 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.2713 p.V905M 0.007 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 64 0 0 66 6 8.33333 FRMPD1 0 genome.wustl.edu 37 9 37746329 37746329 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 9 37746329 37746329 G T SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.4300 p.D1434Y 0.697 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 20 0 0 27 4 12.9032 TCEAL6 0 genome.wustl.edu 37 X 101395818 101395818 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 101395818 101395818 A G SNP TCEAL6 ENST00000372773 human ensembl 74_37 -1 known silent c.486 p.F162 0.003 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 94 0 0 68 9 11.6883 RAB40A 0 genome.wustl.edu 37 X 102755054 102755054 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 102755054 102755054 T C SNP RAB40A ENST00000304236 human ensembl 74_37 -1 known missense c.631 p.K211E 1.000 pfam_SOCS_C,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 133 0 0 72 16 18.1818 TRPC5 0 genome.wustl.edu 37 X 111155645 111155645 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 111155645 111155645 T G SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.774 p.Q258H 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 186 0 0 138 12 8 RBMX 0 genome.wustl.edu 37 X 135960230 135960230 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 135960230 135960230 C T SNP RBMX ENST00000320676 human ensembl 74_37 -1 known missense c.232 p.A78T 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 24 0 0 21 5 19.2308 SLITRK4 0 genome.wustl.edu 37 X 142716880 142716880 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 142716880 142716880 C A SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.2045 p.S682I 0.944 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 203 0 0 159 25 13.587 FMR1NB 0 genome.wustl.edu 37 X 147088343 147088343 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 147088343 147088343 T G SNP FMR1NB ENST00000370467 human ensembl 74_37 +1 known missense c.519 p.C173W 0.003 superfamily_P_trefoil superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 106 0 0 97 13 11.8182 MAMLD1 0 genome.wustl.edu 37 X 149638240 149638240 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 149638240 149638240 A T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.320 p.E107V 0.730 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 127 0 0 98 6 5.76923 CNGA2 0 genome.wustl.edu 37 X 150912264 150912264 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 150912264 150912264 A G SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.1289 p.K430R 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 62 0 0 51 15 22.7273 OPN1MW2 0 genome.wustl.edu 37 X 153490663 153490663 + Silent SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 153490663 153490663 C G SNP OPN1MW2 ENST00000369929 human ensembl 74_37 +1 known silent c.399 p.V133 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW2 HGNC ENSG00000166160 139 0 0 87 5 5.43478 MAP3K15 0 genome.wustl.edu 37 X 19410172 19410172 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 19410172 19410172 A C SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.2379 p.F793L 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,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 34 0 0 29 3 9.375 ARSD 0 genome.wustl.edu 37 X 2826865 2826865 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 2826865 2826865 G A SNP ARSD ENST00000381154 human ensembl 74_37 -1 known silent c.1317 p.S439 0.992 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 32 0 0 33 6 15.3846 ARSD 0 genome.wustl.edu 37 X 2826866 2826866 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 2826866 2826866 C T SNP ARSD ENST00000381154 human ensembl 74_37 -1 known missense c.1316 p.S439N 0.933 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 32 0 0 33 6 15.3846 PPP2R3B 0 genome.wustl.edu 37 X 295132 295132 + Silent SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 295132 295132 T C SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1698 p.A566 0.264 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 29 0 0 27 2 6.89655 DMD 0 genome.wustl.edu 37 X 31515045 31515045 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 31515045 31515045 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8407 p.S2803G 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 29 0 0 17 4 19.0476 FAM47A 0 genome.wustl.edu 37 X 34149532 34149532 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 34149532 34149532 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.864 p.D288 0.016 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 35 0 0 32 4 11.1111 CXorf67 0 genome.wustl.edu 37 X 51150192 51150192 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 51150192 51150192 A C SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.324 p.E108D 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 28 0 0 13 3 18.75 ALAS2 0 genome.wustl.edu 37 X 55052271 55052271 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 X 55052271 55052271 C T SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.163 p.A55T 0.774 pfam_5aminolev_synth_preseq pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 71 0 0 63 7 10 FRMD4A 0 genome.wustl.edu 37 10 13696451 13696452 + Frame_Shift_Ins INS - - G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 10 13696451 13696452 - G INS FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_ins c.3015_3014 p.S1006fs 0.992:1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 103 0 0 75 7 8.53659 BLM 0 genome.wustl.edu 37 15 91303325 91303326 + Frame_Shift_Ins INS - - T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 15 91303325 91303326 - T INS BLM ENST00000559724 human ensembl 74_37 +1 known frame_shift_ins c.1202_1203 p.F405fs 0.000:0.021 NULL NULL - no_errors BLM HGNC ENSG00000197299 10 0 0 15 5 25 ZIM3 0 genome.wustl.edu 37 19 57647033 57647033 + Frame_Shift_Del DEL T T - TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 19 57647033 57647033 T - DEL ZIM3 ENST00000269834 human ensembl 74_37 -1 known frame_shift_del c.672 p.K224fs 0.046 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 ZIM3 HGNC ENSG00000141946 153 0 0 172 12 6.52174 TRPV5 0 genome.wustl.edu 37 7 142630549 142630549 + Frame_Shift_Del DEL C C - TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 7 142630549 142630549 C - DEL TRPV5 ENST00000265310 human ensembl 74_37 -1 known frame_shift_del c.8 p.G3fs 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 98 0 0 101 19 15.8333